start-ver=1.4
cd-journal=joma
no-vol=16
cd-vols=
no-issue=1
article-no=
start-page=30805
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2026
dt-pub=20260704
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Cinnamyl alcohol dehydrogenase (CAD) underlies the orange lemma trait and lignin reduction in barley
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Barley (Hordeum vulgare L.) is one of the world’s major cereal crops and is widely used for feed, brewing, and food. Reducing lignin content in barley grain and straw is beneficial for improving forage digestibility and enhancing the efficiency of bioethanol production. The orange lemma mutation?characterized by orange pigmentation of husks and nodes?has long been associated with altered lignin metabolism; however, its genetic basis has remained unclear. We show that Cinnamyl Alcohol Dehydrogenase (CAD) is the causal gene underlying the orange lemma phenotype in barley. Genetic mapping using a ‘Haruna Nijo’?×?‘L053’ F? population and the Barley 50 K SNP array defined a candidate region on chromosome 6H containing the CAD gene. Sequence analysis revealed that all orange lemma mutants, including both naturally occurring and EMS-induced lines, carried nucleotide changes in the CAD gene, resulting in amino acid substitutions or premature stop codons. Furthermore, CRISPR/Cas9-mediated knockout of CAD in the cultivar ‘Golden Promise’ reproduced the orange lemma phenotype, providing functional validation. The knockout plants also showed significantly lower lignin content than wild-type plants. These findings resolve a long-standing question regarding the genetic basis of the orange lemma trait and demonstrate that disruption of CAD alters lignin accumulation in barley. This work provides a valuable genetic resource for breeding barley cultivars with improved biomass utilization for feed and bioenergy applications.
en-copyright=
kn-copyright=

en-aut-name=SatoKazuhiro
en-aut-sei=Sato
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=MoritaMaho
en-aut-sei=Morita
en-aut-mei=Maho
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=YamajiNami
en-aut-sei=Yamaji
en-aut-mei=Nami
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=KakoRinka
en-aut-sei=Kako
en-aut-mei=Rinka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=UshijimaTomokazu
en-aut-sei=Ushijima
en-aut-mei=Tomokazu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=HisanoHiroshi
en-aut-sei=Hisano
en-aut-mei=Hiroshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

affil-num=1
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=2
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=3
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=4
en-affil=Graduate School of Agricultural Science, Setsunan University
kn-affil=

affil-num=5
en-affil=Graduate School of Agricultural Science, Setsunan University
kn-affil=

affil-num=6
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=
en-keyword=Cinnamyl Alcohol Dehydrogenase (CAD)
kn-keyword=Cinnamyl Alcohol Dehydrogenase (CAD)
en-keyword=Barley
kn-keyword=Barley
en-keyword=Orange lemma
kn-keyword=Orange lemma
en-keyword=Lignin
kn-keyword=Lignin
en-keyword=Genome editing
kn-keyword=Genome editing
END

start-ver=1.4
cd-journal=joma
no-vol=
cd-vols=
no-issue=
article-no=
start-page=1
end-page=15
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2026
dt-pub=20260828
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=MIT/TFE family transcription factors, Mitf and Tfec, redundantly promote pigment cell differentiation and retinal epithelium pigmentation in teleosts
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background: Transcription factors of the MIT/TFE family?mitfa, mitfb, and tfec?play essential roles in specifying pigment cells derived from neural crest cells in vertebrates. In teleosts, which possess multiple pigment cell types, these factors exhibit partially redundant but largely distinct functions across different pigment lineages. We previously reported that the combined loss of mitfa and mitfb leads to a complete absence of melanophores, xanthophores, and leucophores in medaka.<br>
Results: Here, we describe newly generated hypomorphic alleles of mitfa and mitfb, which result in delayed melanophore development. Using these hypomorphic mutants in combination with a newly generated null allele of tfec, we show that Tfec can partially compensate for the loss of Mitfa and Mitfb in melanophore, xanthophore, and leucophore differentiation. Consistent with previous findings in zebrafish, loss of tfec alone results in the complete absence of iridophores. Importantly, simultaneous null mutations in all three genes cause a complete loss of all four chromatophore types and lead to defective pigmentation of the retinal pigmented epithelium (RPE), which is not derived from the neural crest in both Oryzias species and in zebrafish. Using an RPE-specific marker, we further show that the RPE is specified and structurally intact but fails to melanize.<br>
Conclusions: These findings indicate that the redundant functions of Mitfa, Mitfb, and Tfec are not only essential for the specification of diverse pigment cell types but also critical for RPE pigmentation.
en-copyright=
kn-copyright=

en-aut-name=ListerJames
en-aut-sei=Lister
en-aut-mei=James
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=SugiwakaKeisuke
en-aut-sei=Sugiwaka
en-aut-mei=Keisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=KimuraTetsuaki
en-aut-sei=Kimura
en-aut-mei=Tetsuaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=TanakaRieko
en-aut-sei=Tanaka
en-aut-mei=Rieko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=GodaMakoto
en-aut-sei=Goda
en-aut-mei=Makoto
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=KobayashiHikaru
en-aut-sei=Kobayashi
en-aut-mei=Hikaru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=InoueChikako
en-aut-sei=Inoue
en-aut-mei=Chikako
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=MasengiKawilarang W. A.
en-aut-sei=Masengi
en-aut-mei=Kawilarang W. A.
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=YamahiraKazunori
en-aut-sei=Yamahira
en-aut-mei=Kazunori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=NaruseKiyoshi
en-aut-sei=Naruse
en-aut-mei=Kiyoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=AnsaiSatoshi
en-aut-sei=Ansai
en-aut-mei=Satoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=KelshRobert N.
en-aut-sei=Kelsh
en-aut-mei=Robert N.
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

en-aut-name=HibiMasahiko
en-aut-sei=Hibi
en-aut-mei=Masahiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=

en-aut-name=HashimotoHisashi
en-aut-sei=Hashimoto
en-aut-mei=Hisashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=14
ORCID=

affil-num=1
en-affil=Department of Human and Molecular Genetics and Massey Cancer Center, Virginia Commonwealth University School of Medicine
kn-affil=

affil-num=2
en-affil=Department of Biological Science, Division of Natural Science, Graduate School of Science, Nagoya University
kn-affil=

affil-num=3
en-affil=Department of Basic Biology, School of Life Science, Graduate University of Advanced Studies (SOKENDAI) & Laboratory of Bioresources, National Institute for Basic Biology
kn-affil=

affil-num=4
en-affil=World Medaka Aquarium, Nagoya Higashiyama Zoo and Botanical Gardens
kn-affil=

affil-num=5
en-affil=Institute of Photonics Medicine, Hamamatsu University School of Medicine
kn-affil=

affil-num=6
en-affil=Department of Biological Science, Division of Natural Science, Graduate School of Science, Nagoya University
kn-affil=

affil-num=7
en-affil=R&D Fish Breeding Group, Regional Fish Institute, Ltd.
kn-affil=

affil-num=8
en-affil=Faculty of Fisheries and Marine Science, Sam Ratulangi University
kn-affil=

affil-num=9
en-affil=Tropical Biosphere Research Center, University of the Ryukyus
kn-affil=

affil-num=10
en-affil=Department of Basic Biology, School of Life Science, Graduate University of Advanced Studies (SOKENDAI) & Laboratory of Bioresources, National Institute for Basic Biology
kn-affil=

affil-num=11
en-affil=Ushimado Marine Institute, Graduate School of Natural Science and Technology, Okayama University
kn-affil=

affil-num=12
en-affil=Department of Life Sciences, University of Bath
kn-affil=

affil-num=13
en-affil=Department of Biological Science, Division of Natural Science, Graduate School of Science, Nagoya University
kn-affil=

affil-num=14
en-affil=Department of Biological Science, Division of Natural Science, Graduate School of Science, Nagoya University
kn-affil=
en-keyword=compound mutants
kn-keyword=compound mutants
en-keyword=melanization
kn-keyword=melanization
en-keyword=neural crest
kn-keyword=neural crest
en-keyword=retina
kn-keyword=retina
en-keyword=RPE
kn-keyword=RPE
END

start-ver=1.4
cd-journal=joma
no-vol=
cd-vols=
no-issue=
article-no=
start-page=
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2026
dt-pub=20260908
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Biological Resectability in Colorectal Liver Metastases: A Nomogram‐Based Continuous Risk Model to Define Borderline Disease
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background: Resectability in colorectal liver metastases (CRLM) is traditionally defined by technical feasibility; however, a biologically based definition of borderline resectable disease has not been established. We evaluated the prognostic impact of KRAS mutation and developed a model for biological risk stratification.<br>
Methods: This multi-institutional retrospective study included 584 patients undergoing initial hepatectomy for CRLM. The impact of KRAS mutation was assessed according to primary tumor sidedness and tumor burden score (TBS). A nomogram predicting overall survival (OS) was constructed using independent prognostic factors and compared with established clinical risk scores.<br>
Results: KRAS mutation was identified in 36.8% of patients and was associated with worse OS (median survival: 47.3 vs. 70.6?months, p?=?0.0006) and recurrence-free survival. This adverse impact was observed in left-sided tumors but not in right-sided tumors. TBS stratified prognosis in KRAS wild-type but not in mutant cases, suggesting that tumor biology may outweigh morphology. A nomogram incorporating KRAS status, TBS, CA19-9, primary nodal status, and extrahepatic disease demonstrated improved discriminatory ability compared with conventional models and stratified recurrence patterns, including extrahepatic recurrence.<br>
Conclusions: The prognostic impact of KRAS mutation depends on tumor sidedness and is independent of tumor morphology. Our nomogram provides a continuous biological risk assessment and may facilitate biological risk stratification and support future refinement of the concept of biologically borderline resectable CRLM.
en-copyright=
kn-copyright=

en-aut-name=UmedaYuzo
en-aut-sei=Umeda
en-aut-mei=Yuzo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=MitsuhashiToshiharu
en-aut-sei=Mitsuhashi
en-aut-mei=Toshiharu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=FujiTomokazu
en-aut-sei=Fuji
en-aut-mei=Tomokazu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=KojimaToru
en-aut-sei=Kojima
en-aut-mei=Toru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=KoujimaTakeshi
en-aut-sei=Koujima
en-aut-mei=Takeshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MatsudaTatsuo
en-aut-sei=Matsuda
en-aut-mei=Tatsuo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=SatohDaisuke
en-aut-sei=Satoh
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=InagakiMasaru
en-aut-sei=Inagaki
en-aut-mei=Masaru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=TakagiKosei
en-aut-sei=Takagi
en-aut-mei=Kosei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=FujiwaraToshiyoshi
en-aut-sei=Fujiwara
en-aut-mei=Toshiyoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

affil-num=1
en-affil=Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Center for Innovative Clinical Medicine, Medical Development Field, Okayama University
kn-affil=

affil-num=3
en-affil=Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Surgery, Okayama Saiseikai General Hospital
kn-affil=

affil-num=5
en-affil=Department of Surgery, Himeji Red Cross Hospital
kn-affil=

affil-num=6
en-affil=Department of Surgery, Tenwakai Matsuda Hospital
kn-affil=

affil-num=7
en-affil=Department of Surgery, Hiroshima Citizens Hospital
kn-affil=

affil-num=8
en-affil=Department of Surgery, National Hospital Organization Fukuyama Medical Center
kn-affil=

affil-num=9
en-affil=Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=10
en-affil=Department of Gastroenterological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=biology
kn-keyword=biology
en-keyword=borderline resectable
kn-keyword=borderline resectable
en-keyword=colorectal liver metastases
kn-keyword=colorectal liver metastases
en-keyword=genetic profile
kn-keyword=genetic profile
en-keyword=KRAS
kn-keyword=KRAS
en-keyword=morphology
kn-keyword=morphology
END

start-ver=1.4
cd-journal=joma
no-vol=14
cd-vols=
no-issue=9
article-no=
start-page=e0086926
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2026
dt-pub=20260901
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Combinations of long terminal repeat and tax protein substitutions influence bovine leukemia virus transmission through altered viral productivity
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Bovine leukemia virus (BLV) infection imposes a substantial economic burden on the global cattle industry. Although proviral load (PVL) in blood influences transmission, the effects of viral genetic variations, including the high viral production-associated long terminal repeat (LTR) substitution at nucleotide position 175 (LTR175), on herd-level dynamics remain unclear. This study investigated the effects of specific substitutions on the regulation of viral productivity and transmission. Longitudinal monitoring of a single farm (herd size: 50?68 cows; 438 samples collected) over a 7-year period revealed that viral strains carrying cytosine at LTR175 (LTR175C) significantly increased in frequency, becoming dominant over wild-type strains carrying thymidine. In contrast, amino acid substitutions in the Tax protein at positions 69 (Tax69) and 73 (Tax73) modified viral transactivation independent of LTR175. Structural modeling via AlphaFold2 predicted that Tax69 and Tax73 mutations alter protein properties, suggesting modulation of transactivation activity. Consistent with this prediction, in vitro assays confirmed that the substitutions modified viral production by regulating transactivation independent of LTR175. Moreover, high viral-productivity haplotypes containing LTR175C and Tax73Q (glutamine at amino acid residue 73) exhibited a transmission advantage within the herd, even when host PVL levels were not significantly elevated. These findings suggest that cellular-level viral productivity is one of the key determinants of transmission fitness. Overall, this study revealed a regulatory interaction between the LTR and Tax protein that optimizes viral spread and highlights the need for control strategies that account for viral genetic substitutions.
en-copyright=
kn-copyright=

en-aut-name=MurakamiHironobu
en-aut-sei=Murakami
en-aut-mei=Hironobu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=SatoReiichiro
en-aut-sei=Sato
en-aut-mei=Reiichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=UchiyamaJumpei
en-aut-sei=Uchiyama
en-aut-mei=Jumpei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=SogawaKazuyuki
en-aut-sei=Sogawa
en-aut-mei=Kazuyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=IshidaHiroho
en-aut-sei=Ishida
en-aut-mei=Hiroho
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=NagaiMakoto
en-aut-sei=Nagai
en-aut-mei=Makoto
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

affil-num=1
en-affil=School of Veterinary Medicine, Azabu University
kn-affil=

affil-num=2
en-affil=Graduate School of Medicine and Veterinary Medicine, University of Miyazaki
kn-affil=

affil-num=3
en-affil=Department of Infectious Diseases, Graduate School of Medicine Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=4
en-affil=School of Life and EnvironmentaScience, Azabu University
kn-affil=

affil-num=5
en-affil=School of Veterinary Medicine, Azabu University
kn-affil=

affil-num=6
en-affil=School of Veterinary Medicine, Azabu University
kn-affil=
en-keyword=bovine leukemia virus
kn-keyword=bovine leukemia virus
en-keyword=substitution
kn-keyword=substitution
en-keyword=transmission
kn-keyword=transmission
en-keyword=haplotype
kn-keyword=haplotype
en-keyword=molecular clone
kn-keyword=molecular clone
en-keyword=proviral load
kn-keyword=proviral load
en-keyword=reverse genetics
kn-keyword=reverse genetics
END

start-ver=1.4
cd-journal=joma
no-vol=69
cd-vols=
no-issue=1
article-no=
start-page=e01108-24
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=20250131
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Genomic epidemiology and genetic characteristics of clinical Campylobacter species cocirculating in West Bengal, India, 2019, using whole genome analysis
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Campylobacter species are the most common pathogens responsible for foodborne gastroenteritis worldwide. India is a region with frequent diarrheal infections and a high level of Campylobacter infection incidence, but the detailed genomic information is limited. This study aimed to characterize 112 isolates of Campylobacter from diarrhea patients at two hospitals in Kolkata, West Bengal, by whole genome analysis. The Campylobacter isolates consisted of 90 C. jejuni, 20 C. coli, and 2 C. lari isolates. Multilocus sequence typing analysis revealed that the largest sequence type (ST) populations were ST-2131 in C. jejuni and ST-830 in C. coli and seven novel STs were found in C. jejuni and one in C. coli. Notably, ST-2131, which is rarely seen elsewhere, was positive for a sialylated LOS-related gene (wlaN +neuA + cstIII) associated with Guillain-Barr? syndrome. Antibiotic resistance factors predicted from the genome sequence included blaOXA variants (58.9%), tet(O) (54.5%), tet(W) (0.9%), ant(6)-Ia (0.9%), mutation in GyrA (T86I, T86I+D90N, T86I+P104S, T86I+D90N+P104S) (79.5%), and mutation in 23S rRNA (A2075G) (12.5%). In addition to the high drug resistance of Campylobacter in Kolkata, Campylobacter pathogens were circulating that may be associated with Guillain-Barr? syndrome. This study indicates the importance of genomic analysis in the surveillance of pathogens, which provides genomic information on genetic diversity, virulence mechanisms, and determinants of antimicrobial resistance.
en-copyright=
kn-copyright=

en-aut-name=MoritaDaichi
en-aut-sei=Morita
en-aut-mei=Daichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=MukhopadhyayAsish Kumar
en-aut-sei=Mukhopadhyay
en-aut-mei=Asish Kumar
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=ChowdhuryGoutam
en-aut-sei=Chowdhury
en-aut-mei=Goutam
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=MaruyamaFumito
en-aut-sei=Maruyama
en-aut-mei=Fumito
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=KandaMiyuki
en-aut-sei=Kanda
en-aut-mei=Miyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=YamamotoYuki
en-aut-sei=Yamamoto
en-aut-mei=Yuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=TaharaHidetoshi
en-aut-sei=Tahara
en-aut-mei=Hidetoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=MukherjeePiyali
en-aut-sei=Mukherjee
en-aut-mei=Piyali
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=BardhanMainak
en-aut-sei=Bardhan
en-aut-mei=Mainak
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=KumagaiTakanori
en-aut-sei=Kumagai
en-aut-mei=Takanori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=KitaharaKei
en-aut-sei=Kitahara
en-aut-mei=Kei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=MiyoshiShin-Ichi
en-aut-sei=Miyoshi
en-aut-mei=Shin-Ichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

en-aut-name=DuttaShanta
en-aut-sei=Dutta
en-aut-mei=Shanta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=

en-aut-name=KurodaTeruo
en-aut-sei=Kuroda
en-aut-mei=Teruo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=14
ORCID=

affil-num=1
en-affil=Department of Microbiology, Graduate School of Biomedical and Health Sciences, Hiroshima University
kn-affil=

affil-num=2
en-affil=Division of Bacteriology, ICMR - National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=3
en-affil=Division of Bacteriology, ICMR - National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=4
en-affil=Section of Microbial Genomics and Ecology, The IDEC Institute, Hiroshima University
kn-affil=

affil-num=5
en-affil=Department of Cellular and Molecular Biology, Graduate School of Biomedical and Health Sciences, Hiroshima University
kn-affil=

affil-num=6
en-affil=Department of Cellular and Molecular Biology, Graduate School of Biomedical and Health Sciences, Hiroshima University
kn-affil=

affil-num=7
en-affil=Department of Cellular and Molecular Biology, Graduate School of Biomedical and Health Sciences, Hiroshima University
kn-affil=

affil-num=8
en-affil=Division of Bacteriology, ICMR - National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=9
en-affil=Division of Bacteriology, ICMR - National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=10
en-affil=Department of Microbiology, Graduate School of Biomedical and Health Sciences, Hiroshima University
kn-affil=

affil-num=11
en-affil=Collaborative Research Centre of Okayama University for Infectious Diseases at ICMR-NICED
kn-affil=

affil-num=12
en-affil=Collaborative Research Centre of Okayama University for Infectious Diseases at ICMR-NICED
kn-affil=

affil-num=13
en-affil=Division of Bacteriology, ICMR - National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=14
en-affil=Department of Microbiology, Graduate School of Biomedical and Health Sciences, Hiroshima University
kn-affil=
en-keyword=Campylobacter jejuni/coli
kn-keyword=Campylobacter jejuni/coli
en-keyword=whole genome sequencing
kn-keyword=whole genome sequencing
en-keyword=phylogenetic analysis
kn-keyword=phylogenetic analysis
en-keyword=plasmid structure
kn-keyword=plasmid structure
END

start-ver=1.4
cd-journal=joma
no-vol=80
cd-vols=
no-issue=1
article-no=
start-page=47
end-page=54
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2026
dt-pub=202602
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Time Course of the Development and Loss of Delta-9-tetrahydrocannabinol Tolerance: Effects on Hypothermia and Spontaneous Locomotor Activity in Mice
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Deregulation of cannabis use is gradually expanding in Europe and the United States. However, the biological processes driving tolerance to delta-9-tetrahydrocannabinol (Δ9-THC), the main psychoactive component of cannabis, remain unclear. Thus, this study aimed to investigate the mechanisms and time course of tolerance development and loss to Δ9-THC in mice. Male ICR mice (7 weeks old) were administered Δ9-THC once daily for 3 days and then divided into three groups according to the washout period (3-, 10-, and 17-day washout groups). After each washout, changes in body temperature and locomotor activity were measured following re-exposure to Δ9-THC. Furthermore, the mRNA expression levels of CB1 and CB2 receptors in the brain were evaluated using real-time PCR. On day 1, significant hypothermia and reduced spontaneous locomotor activity were observed in the Δ9-THC-treated mice compared with the vehicle-treated mice. Tolerance to the hypothermic and locomotor-suppressing effects of Δ9-THC developed on days 2 and 3, respectively, and dissipated after 3 and 11 days of washout, respectively. These differences in the rates of tolerance development and recovery may reflect distinct underlying mechanisms. No significant changes in receptor mRNA expression were observed. These findings highlight the complexity of Δ9-THC tolerance and its potential implications for long-term cannabis use.
en-copyright=
kn-copyright=

en-aut-name=EguchiYukiomi
en-aut-sei=Eguchi
en-aut-mei=Yukiomi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=UshioSoichiro
en-aut-sei=Ushio
en-aut-mei=Soichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=IrieKeiichi
en-aut-sei=Irie
en-aut-mei=Keiichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=YamashitaYuta
en-aut-sei=Yamashita
en-aut-mei=Yuta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=EguchiMiyu
en-aut-sei=Eguchi
en-aut-mei=Miyu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=NakanoTakafumi
en-aut-sei=Nakano
en-aut-mei=Takafumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MishimaKenichi
en-aut-sei=Mishima
en-aut-mei=Kenichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

affil-num=1
en-affil=Department of Physiology and Pharmacology, Faculty of Pharmaceutical Sciences, Fukuoka University
kn-affil=

affil-num=2
en-affil=Department of Emergency and Disaster Medical Pharmacy, Faculty of Pharmaceutical Sciences, Fukuoka University
kn-affil=

affil-num=3
en-affil=Department of Physiology and Pharmacology, Faculty of Pharmaceutical Sciences, Fukuoka University
kn-affil=

affil-num=4
en-affil=Department of Physiology and Pharmacology, Faculty of Pharmaceutical Sciences, Fukuoka University
kn-affil=

affil-num=5
en-affil=Department of Emergency and Disaster Medical Pharmacy, Faculty of Pharmaceutical Sciences, Fukuoka University
kn-affil=

affil-num=6
en-affil=Department of Oncology and Infectious Disease Pharmacy, Faculty of Pharmaceutical Sciences, Fukuoka University
kn-affil=

affil-num=7
en-affil=Department of Physiology and Pharmacology, Faculty of Pharmaceutical Sciences, Fukuoka University
kn-affil=
en-keyword=delta-9-tetrahydrocannabinol
kn-keyword=delta-9-tetrahydrocannabinol
en-keyword=cannabis
kn-keyword=cannabis
en-keyword=tolerance
kn-keyword=tolerance
en-keyword=locomotor
kn-keyword=locomotor
en-keyword=hypothermic
kn-keyword=hypothermic
END

start-ver=1.4
cd-journal=joma
no-vol=14
cd-vols=
no-issue=
article-no=
start-page=100511
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=202503
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Genetic variability in Neisseria meningitidis strains isolated in a Japanese hospital
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Objectives: Neisseria meningitidis is a significant pathogen causing invasive meningococcal disease, posing clinical and public health concerns worldwide. This study aimed to investigate the genetic characteristics of N. meningitidis clinical isolates at Okayama University Hospital in Japan.<br>
Methods: Between 2018 and 2023, five clinical strains were isolated, of which three were subjected to the antimicrobial susceptibility testing and whole genetic analysis using MiSeq platform (Illumina, San Diego, CA, USA).<br>
Results: One non-groupable isolate, belonging to sequence types (STs)-11026 (ST-32 complex), exhibited non-susceptibility to penicillin G, with a five-mutation pattern (F504L, A510V, I515V, H541N, and I566V) in the penA amino acid sequence and additional mutations (XXXIV and N513Y) characteristic of a mosaic penA gene. The other two isolates, ST-1655 (ST-23 complex) with serogroup Y and ST-2057 with serogroup B, were susceptible to penicillin G, neither of which contained the five-mutation pattern. Levofloxacin resistance was observed in two isolates carrying the T91I mutation in the gyrA protein.<br>
Conclusion: Our findings suggest the presence of antimicrobial-resistant N. meningitidis in Japan, underscoring the necessity for continuous local surveillance. Additional research is crucial for clarifying the ongoing spread of resistance mechanisms and for establishing effective countermeasures to reduce the clinical burden of invasive meningococcal disease.
en-copyright=
kn-copyright=

en-aut-name=GotohKazuyoshi
en-aut-sei=Gotoh
en-aut-mei=Kazuyoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=FukushimaShinnosuke
en-aut-sei=Fukushima
en-aut-mei=Shinnosuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=HagiyaHideharu
en-aut-sei=Hagiya
en-aut-mei=Hideharu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=TsujiShuma
en-aut-sei=Tsuji
en-aut-mei=Shuma
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=IioKoji
en-aut-sei=Iio
en-aut-mei=Koji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MatsushitaOsamu
en-aut-sei=Matsushita
en-aut-mei=Osamu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

affil-num=1
en-affil=Department of Medical Laboratory Science, Okayama University Graduate School of Health Sciences
kn-affil=

affil-num=2
en-affil=Department of Bacteriology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=3
en-affil=Department of Infectious Diseases, Okayama University Hospital
kn-affil=

affil-num=4
en-affil=Department of Medical Laboratory Science, Okayama University Graduate School of Health Sciences
kn-affil=

affil-num=5
en-affil=Microbiology Division, Clinical Laboratory, Okayama University Hospital
kn-affil=

affil-num=6
en-affil=Department of Bacteriology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=Antimicrobial resistance
kn-keyword=Antimicrobial resistance
en-keyword=Invasive meningococcal disease
kn-keyword=Invasive meningococcal disease
en-keyword=Drug-resistant gene
kn-keyword=Drug-resistant gene
en-keyword=Genome sequence
kn-keyword=Genome sequence
END

start-ver=1.4
cd-journal=joma
no-vol=55
cd-vols=
no-issue=4
article-no=
start-page=313
end-page=326
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=20250203
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Current management of neurotrophic receptor tyrosine kinase fusion-positive sarcoma: an updated review
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=In recent years, pembrolizumab has demonstrated significant efficacy in treating tumors characterized by a high tumor mutational burden and high microsatellite instability. Tropomyosin receptor kinase (TRK) inhibitors have shown considerable efficacy against tumors harboring neurotrophic receptor tyrosine kinase (NTRK) fusion genes, highlighting the growing importance of personalized medicine in cancer treatment. Advanced sequencing technologies enable the rapid analysis of numerous genetic abnormalities in tumors, facilitating the identification of patients with positive biomarkers. These advances have increased the likelihood of providing effective, tailored treatments. NTRK fusion genes are present in various cancer types, including sarcomas, and the TRK inhibitors larotrectinib and entrectinib have been effectively used for these malignancies. Consequently, the treatment outcomes for NTRK fusion-positive tumors have improved significantly, reflecting a shift toward more personalized therapeutic approaches. This review focuses on NTRK fusion-positive sarcomas and comprehensively evaluates their epidemiology, clinical features, and radiological and histological characteristics. We also investigated the treatment landscape, including the latest methodologies involving TRK inhibitors, and discussed the long-term efficacy of these inhibitors, and their optimal order of use. Notably, larotrectinib has demonstrated a high response rate in infantile fibrosarcoma, and its efficacy has been confirmed even in advanced cases. However, further research is warranted to optimize treatment duration and subsequent management strategies. The accumulation of clinical cases worldwide will play a pivotal role in refining the treatment approaches for tumors associated with NTRK fusion genes.
en-copyright=
kn-copyright=

en-aut-name=KubotaYuta
en-aut-sei=Kubota
en-aut-mei=Yuta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=KawanoMasanori
en-aut-sei=Kawano
en-aut-mei=Masanori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=IwasakiTatsuya
en-aut-sei=Iwasaki
en-aut-mei=Tatsuya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=ItonagaIchiro
en-aut-sei=Itonaga
en-aut-mei=Ichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=KakuNobuhiro
en-aut-sei=Kaku
en-aut-mei=Nobuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=OzakiToshifumi
en-aut-sei=Ozaki
en-aut-mei=Toshifumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=TanakaKazuhiro
en-aut-sei=Tanaka
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

affil-num=1
en-affil=Department of Orthopaedic Surgery, Faculty of Medicine, Oita University
kn-affil=

affil-num=2
en-affil=Department of Orthopaedic Surgery, Faculty of Medicine, Oita University
kn-affil=

affil-num=3
en-affil=Department of Orthopaedic Surgery, Faculty of Medicine, Oita University
kn-affil=

affil-num=4
en-affil=Department of Orthopaedic Surgery, Faculty of Medicine, Oita University
kn-affil=

affil-num=5
en-affil=Department of Orthopaedic Surgery, Faculty of Medicine, Oita University
kn-affil=

affil-num=6
en-affil=Department of Orthopaedic Surgery , Science of Functional Recovery and Reconstruction, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=7
en-affil=Department of Orthopaedic Surgery, Faculty of Medicine, Oita University
kn-affil=
en-keyword=NTRK fusion-positive sarcoma
kn-keyword=NTRK fusion-positive sarcoma
en-keyword=larotrectinib
kn-keyword=larotrectinib
en-keyword=entrectinib
kn-keyword=entrectinib
en-keyword=infantile fibrosarcoma
kn-keyword=infantile fibrosarcoma
en-keyword=NTRK-rearranged spindle cell neoplasms
kn-keyword=NTRK-rearranged spindle cell neoplasms
END

start-ver=1.4
cd-journal=joma
no-vol=26
cd-vols=
no-issue=11
article-no=
start-page=e70168
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=202511
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Comparative Genomic Analysis Identifies FleQ and GcbB as Virulence-Associated Factors in Pseudomonas syringae pv. tabaci Strains
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Pseudomonas syringae pv. tabaci (Pta) is an important plant pathogen, which causes wildfire disease in Nicotiana species. However, the genetic basis underlying strain-level differences in virulence remains largely unresolved. To address this, we performed a comparative genomic analysis between a highly virulent strain Pta6605 and a less virulent strain Pta7375. Despite high overall genome similarity, we identified key single-nucleotide polymorphisms, including premature stop-codon mutations in seven open reading frames in Pta7375. Notably, point mutations in two regulatory genes, such as fleQ, which encodes a transcription factor essential for flagellar biogenesis and biofilm formation, and gcbB, which encodes a GGDEF domain-containing diguanylate cyclase responsible for cyclic dimeric guanosine monophosphate (c-di-GMP) synthesis, were implicated in virulence disparity. Functional analyses using deletion and locus replacement mutants in the Pta6605 background revealed that the disruption of fleQ markedly reduced motility, flagellin production, c-di-GMP accumulation, biofilm formation and virulence level mirroring the Pta7375 phenotype. The gcbB replacement mutant showed reduced disease symptom development, although c-di-GMP levels remained comparable to the Pta6605 wild type. Locus replacement between strains confirmed that a point mutation in fleQ was the primary driver of reduced motility and flagellin expression in Pta7375. These findings indicate that the reduced virulence of Pta7375 is associated with impaired regulation of flagella-related genes and disruption of the FleQ-mediated c-di-GMP signalling, underscoring the value of comparative genomics in disentangling the complex regulatory networks that govern virulence in plant pathogens.
en-copyright=
kn-copyright=

en-aut-name=HidayatMuhammad Taufiq
en-aut-sei=Hidayat
en-aut-mei=Muhammad Taufiq
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=YoshiokaKei
en-aut-sei=Yoshioka
en-aut-mei=Kei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=NishimuraTakafumi
en-aut-sei=Nishimura
en-aut-mei=Takafumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=AsaiShuta
en-aut-sei=Asai
en-aut-mei=Shuta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MasudaSachiko
en-aut-sei=Masuda
en-aut-mei=Sachiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=ShirasuKen
en-aut-sei=Shirasu
en-aut-mei=Ken
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=SakataNanami
en-aut-sei=Sakata
en-aut-mei=Nanami
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=YamamotoMikihiro
en-aut-sei=Yamamoto
en-aut-mei=Mikihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=NoutoshiYoshiteru
en-aut-sei=Noutoshi
en-aut-mei=Yoshiteru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=ToyodaKazuhiro
en-aut-sei=Toyoda
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=IchinoseYuki
en-aut-sei=Ichinose
en-aut-mei=Yuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=MatsuiHidenori
en-aut-sei=Matsui
en-aut-mei=Hidenori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

affil-num=1
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=2
en-affil=Faculty of Agriculture, Okayama University
kn-affil=

affil-num=3
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=4
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=5
en-affil=Center for Sustainable Resource Science, RIKEN-TRIP
kn-affil=

affil-num=6
en-affil=Center for Sustainable Resource Science, RIKEN-TRIP
kn-affil=

affil-num=7
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=8
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=9
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=10
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=11
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=

affil-num=12
en-affil=Graduate School of Environmental, Life, Natural Science and Technology, Okayama University
kn-affil=
en-keyword=comparative genomics
kn-keyword=comparative genomics
en-keyword=cyclic-di- GMP
kn-keyword=cyclic-di- GMP
en-keyword=fleQ
kn-keyword=fleQ
en-keyword=gcbB
kn-keyword=gcbB
en-keyword=Pseudomonas syringae
kn-keyword=Pseudomonas syringae
END

start-ver=1.4
cd-journal=joma
no-vol=52
cd-vols=
no-issue=10
article-no=
start-page=1483
end-page=1493
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=202509
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Biologics and Small‐Molecule Therapies in Netherton Syndrome: A Comprehensive Review
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Netherton syndrome (NS) is a rare congenital ichthyosis caused by loss-of-function mutations in the SPINK5 gene, leading to defective expression of the serine protease inhibitor LEKTI. Dysregulated epidermal protease activity results in impaired skin barrier function and chronic inflammation, accompanied by complex immune profiles. NS patients commonly show activation of the inflammatory axis, centered on IL-17 and IL-36, in the skin and blood, and show a psoriasis-like shift to Th17. Conversely, the immune profile differs depending on the clinical type, with ichthyosis linearis circumflexa type characterized by complement activation and Th2-type allergic responses, and scaly erythroderma type characterized by a type I IFN signature and Th9-type allergic responses. While symptomatic treatments such as emollients and topical corticosteroids have been the mainstay of care, recent advances have opened new therapeutic avenues involving biologic agents and oral small-molecule immunomodulators. This review provides a comprehensive overview of the current clinical landscape and future directions of biologics (e.g., dupilumab, secukinumab, ustekinumab) and small-molecule therapies (e.g., JAK inhibitors such as tofacitinib, baricitinib, and upadacitinib) in the treatment of NS. Though evidence remains limited to case reports and small series, preliminary data suggest that cytokine-targeted interventions?particularly those inhibiting IL-4, IL-13, IL-17, IL-36, and JAK pathways?may offer tangible clinical benefits. Well-designed clinical trials and mechanistic investigations are crucial to establishing their place in NS management.
en-copyright=
kn-copyright=

en-aut-name=MorizaneShin
en-aut-sei=Morizane
en-aut-mei=Shin
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=MukaiTomoyuki
en-aut-sei=Mukai
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=SunagawaKo
en-aut-sei=Sunagawa
en-aut-mei=Ko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=HasuiKen‐ichi
en-aut-sei=Hasui
en-aut-mei=Ken‐ichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MoritaAnri
en-aut-sei=Morita
en-aut-mei=Anri
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=NomuraHayato
en-aut-sei=Nomura
en-aut-mei=Hayato
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

affil-num=1
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Immunology and Molecular Genetics, Kawasaki Medical School
kn-affil=

affil-num=3
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=5
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=6
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=7
en-affil=Department of Molecular Oncology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
END

start-ver=1.4
cd-journal=joma
no-vol=1869
cd-vols=
no-issue=12
article-no=
start-page=130860
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=20250913
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=The F54L mutation of Thioredoxin shows protein instability and increased fluctuations of the catalytic center
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Thioredoxin is a ubiquitous redox protein that acts as an electron donor via its conserved dithiol motif (C32GPC35), catalyzing dithiol?disulfide exchange to regulate the redox state of target proteins. It supports antioxidant defense via peroxiredoxins, facilitates DNA synthesis by donating electrons to ribonucleotide reductase, and regulates redox-sensitive signaling pathways, including those controlling transcription and apoptosis. Neuronal degeneration and chronic kidney disease have been observed in Txn-F54L mutant rats; however, the details of why the Txn mutation causes these phenomena remain unknown. The present study aimed to elucidate the functional and structural changes caused by the F54L mutation. The Thioredoxin-F54L showed less insulin-reducing activity and more thermosensitivity to denaturation in the body temperature range compared to the wild type. The crystal structure revealed that F54 forms hydrophobic interactions with the surrounding hydrophobic amino acids. In addition, molecular dynamics simulation predicts increased fluctuations around the F54L mutation and a tendency for the distance between residues C32 and C35 at the catalytic center to be widened. The increased distance between residues C32 and C35 of the catalytic center may affect the reducing activity of the enzyme on the substrate. The finding that Thioredoxin-F54L is prone to denaturation at normal body temperature may reduce the normally functioning Thioredoxin. These molecular characteristics of Thioredoxin-F54L may be related to brain and kidney disease development in the Txn-F54L rats.
en-copyright=
kn-copyright=

en-aut-name=BabaTakumi
en-aut-sei=Baba
en-aut-mei=Takumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=UenoGo
en-aut-sei=Ueno
en-aut-mei=Go
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=OheChika
en-aut-sei=Ohe
en-aut-mei=Chika
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=SajiShuku
en-aut-sei=Saji
en-aut-mei=Shuku
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=YamamotoSachiko
en-aut-sei=Yamamoto
en-aut-mei=Sachiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=YamamotoMasaki
en-aut-sei=Yamamoto
en-aut-mei=Masaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=NakagawaHiroshi
en-aut-sei=Nakagawa
en-aut-mei=Hiroshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=OkazakiNobuo
en-aut-sei=Okazaki
en-aut-mei=Nobuo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=Kawasaki-OhmoriIori
en-aut-sei=Kawasaki-Ohmori
en-aut-mei=Iori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=TakeshitaKohei
en-aut-sei=Takeshita
en-aut-mei=Kohei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

affil-num=1
en-affil=Life Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 Center
kn-affil=

affil-num=2
en-affil=Life Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 Center
kn-affil=

affil-num=3
en-affil=Life Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 Center
kn-affil=

affil-num=4
en-affil=Structural Biology Division, Japan Synchrotron Radiation Research Institute
kn-affil=

affil-num=5
en-affil=Structural Biology Division, Japan Synchrotron Radiation Research Institute
kn-affil=

affil-num=6
en-affil=Life Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 Center
kn-affil=

affil-num=7
en-affil=Materials Sciences Research Center, Japan Atomic Energy Agency
kn-affil=

affil-num=8
en-affil=Neutron Science and Technology Center, Comprehensive Research Organization for Science and Society (CROSS)
kn-affil=

affil-num=9
en-affil=Department of Molecular Oncology, Faculty of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=10
en-affil=Section of Developmental Physiology and Pathology, Faculty of Education, Okayama University
kn-affil=

affil-num=11
en-affil=Life Science Research Infrastructure Group, Advanced Photon Technology Division, RIKEN SPring-8 Center
kn-affil=
en-keyword=Txn
kn-keyword=Txn
en-keyword=Thioredoxin
kn-keyword=Thioredoxin
en-keyword=Protein instability
kn-keyword=Protein instability
en-keyword=Thermosensitivity
kn-keyword=Thermosensitivity
en-keyword=Crystal structure
kn-keyword=Crystal structure
en-keyword=Molecular dynamics simulation
kn-keyword=Molecular dynamics simulation
END

start-ver=1.4
cd-journal=joma
no-vol=16
cd-vols=
no-issue=1
article-no=
start-page=
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2025
dt-pub=20250225
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Age-related behavioural abnormalities in C57BL/6.KOR?Apoe shl mice
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Spontaneously hyperlipidaemic (Apoeshl) mice were discovered in 1999 as mice lacking apolipoprotein E (ApoE) owing to a mutation in the Apoe gene. However, age-related behavioural changes in commercially available Apoeshl mice have not yet been clarified. The behavioural abnormalities of ApoE-deficient mice, which are genetically modified mice artificially deficient in ApoE, have been investigated in detail, and it has been reported that they can serve as a model of Alzheimer’s disease (AD). To understand whether Apoeshl mice can also serve as a murine model of AD, it is necessary to investigate age-related behavioural abnormalities in Apoeshl mice. In this study, we conducted a series of behavioural experiments on 7- and 11-month-old Apoeshl mice to investigate the behavioural abnormalities associated with ageing in Apoeshl mice. In this study, 7-month-old Apoeshl mice showed decreased body weight and grip strength compared to age-matched wild-type mice. In the open field test, 7-month-old Apoeshl mice showed increased anxiety-like behaviour compared to wild-type mice, whereas 11-month-old Apoeshl mice showed decreased anxiety-like behaviour. Moreover, Apoeshl mice aged 7 and 11 months had increased serum cholesterol levels. These results indicate that the behaviour of Apoeshl mice changes with age. However, 11-month-old Apoeshl mice did not show a decline in cognitive function or memory ability similar to murine models of AD. Our findings indicate that Apoeshl mice can be used to investigate the function of ApoE in the central nervous system.
en-copyright=
kn-copyright=

en-aut-name=UenoHiroshi
en-aut-sei=Ueno
en-aut-mei=Hiroshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=TakahashiYu
en-aut-sei=Takahashi
en-aut-mei=Yu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=MoriSachiko
en-aut-sei=Mori
en-aut-mei=Sachiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=KitanoEriko
en-aut-sei=Kitano
en-aut-mei=Eriko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MurakamiShinji
en-aut-sei=Murakami
en-aut-mei=Shinji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=WaniKenta
en-aut-sei=Wani
en-aut-mei=Kenta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MiyazakiTetsuji
en-aut-sei=Miyazaki
en-aut-mei=Tetsuji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=MatsumotoYosuke
en-aut-sei=Matsumoto
en-aut-mei=Yosuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=OkamotoMotoi
en-aut-sei=Okamoto
en-aut-mei=Motoi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=IshiharaTakeshi
en-aut-sei=Ishihara
en-aut-mei=Takeshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

affil-num=1
en-affil=Department of Medical Technology, Kawasaki University of Medical Welfare
kn-affil=

affil-num=2
en-affil=Department of Psychiatry, Kawasaki Medical School
kn-affil=

affil-num=3
en-affil=Department of Psychiatry, Kawasaki Medical School
kn-affil=

affil-num=4
en-affil=Department of Psychiatry, Kawasaki Medical School
kn-affil=

affil-num=5
en-affil=Department of Psychiatry, Kawasaki Medical School
kn-affil=

affil-num=6
en-affil=Department of Psychiatry, Kawasaki Medical School
kn-affil=

affil-num=7
en-affil=Department of Psychiatry, Kawasaki Medical School
kn-affil=

affil-num=8
en-affil=Department of Neuropsychiatry, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=9
en-affil=Department of Medical Technology, Graduate School of Health Sciences, Okayama University
kn-affil=

affil-num=10
en-affil=Department of Psychiatry, Kawasaki Medical School
kn-affil=
en-keyword=age
kn-keyword=age
en-keyword=apolipoprotein
kn-keyword=apolipoprotein
en-keyword=behavioural test
kn-keyword=behavioural test
en-keyword=central nervous system
kn-keyword=central nervous system
en-keyword=mouse
kn-keyword=mouse
END

start-ver=1.4
cd-journal=joma
no-vol=137
cd-vols=
no-issue=9
article-no=
start-page=212
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2024
dt-pub=20240831
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Mutations in starch BRANCHING ENZYME 2a suppress the traits caused by the loss of ISOAMYLASE1 in barley
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=The genetic interactions among starch biosynthesis genes can be exploited to alter starch properties, but they remain poorly understood due to the various combinations of mutations to be tested. Here, we isolated two novel barley mutants defective in starch BRANCHING ENZYME 2a (hvbe2a-1 and hvbe2a-2) based on the starch granule (SG) morphology. Both hvbe2a mutants showed elongated SGs in the endosperm and increased resistant starch content. hvbe2a-1 had a base change in HvBE2a gene, substituting the amino acid essential for its enzyme activity, while hvbe2a-2 is completely missing HvBE2a due to a chromosomal deletion. Further genetic crosses with barley isoamylase1 mutants (hvisa1) revealed that both hvbe2a mutations could suppress defects in endosperm caused by hvisa1, such as reduction in starch, increase in phytoglycogen, and changes in the glucan chain length distribution. Remarkably, hvbe2a mutations also transformed the endosperm SG morphology from the compound SG caused by hvisa1 to bimodal simple SGs, resembling that of wild-type barley. The suppressive impact was in competition with floury endosperm 6 mutation (hvflo6), which could enhance the phenotype of hvisa1 in the endosperm. In contrast, the compound SG formation induced by the hvflo6 hvisa1 mutation in pollen was not suppressed by hvbe2a mutations. Our findings provide new insights into genetic interactions in the starch biosynthetic pathway, demonstrating how specific genetic alterations can influence starch properties and SG morphology, with potential applications in cereal breeding for desired starch properties.
en-copyright=
kn-copyright=

en-aut-name=MatsushimaRyo
en-aut-sei=Matsushima
en-aut-mei=Ryo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=HisanoHiroshi
en-aut-sei=Hisano
en-aut-mei=Hiroshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=KimJune-Sik
en-aut-sei=Kim
en-aut-mei=June-Sik
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=McNellyRose
en-aut-sei=McNelly
en-aut-mei=Rose
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=OitomeNaoko F.
en-aut-sei=Oitome
en-aut-mei=Naoko F.
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=SeungDavid
en-aut-sei=Seung
en-aut-mei=David
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=FujitaNaoko
en-aut-sei=Fujita
en-aut-mei=Naoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=SatoKazuhiro
en-aut-sei=Sato
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

affil-num=1
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=2
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=3
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=4
en-affil=John Innes Centre, Norwich Research Park
kn-affil=

affil-num=5
en-affil=Department of Biological Production, Akita Prefectural University
kn-affil=

affil-num=6
en-affil=John Innes Centre, Norwich Research Park
kn-affil=

affil-num=7
en-affil=Department of Biological Production, Akita Prefectural University
kn-affil=

affil-num=8
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=
END

start-ver=1.4
cd-journal=joma
no-vol=167
cd-vols=
no-issue=1
article-no=
start-page=201
end-page=210
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2024
dt-pub=20240301
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Midline invasion predicts poor prognosis in diffuse hemispheric glioma, H3 G34-mutant: an individual participant data review
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Introduction Diffuse hemispheric glioma, H3 G34-mutant (DHGs), is a newly categorized tumor in pediatric-type diffuse high-grade gliomas, World Health Organization grade 4, with a poor prognosis. Although prognostic factors associated with genetic abnormalities have been reported, few reports have examined the clinical presentation of DHGs, especially from the viewpoint of imaging findings. In this study, we investigated the relationship between clinical factors, including imaging findings, and prognosis in patients with DHGs.<br>
Methods We searched Medline through the PubMed database using two search terms: “G34” and “glioma”, between 1 April 2012 and 1 July 2023. We retrieved articles that described imaging findings and overall survival (OS), and added one DHG case from our institution. We defined midline invasion (MI) as invasion to the contralateral cerebrum, brainstem, corpus callosum, thalamus, and basal ganglia on magnetic resonance imaging. The primary outcome was 12-month survival, estimated using Kaplan?Meier curves and logistic regression.<br>
Results A total of 96 patients were included in this study. The median age was 22 years, and the proportion of male patients was 48.4%. Lesions were most frequently located in the frontal lobe (52.6%). MI was positive in 39.6% of all patients. The median OS was 14.4 months. Univariate logistic regression analysis revealed that OS was significantly worse in the MI-positive group compared with the MI-negative group. Multivariate logistic regression analysis revealed that MI was an independent prognostic factor in DHGs.<br>
Conclusions In this study, MI-positive cases had a worse prognosis compared with MI-negative cases.
en-copyright=
kn-copyright=

en-aut-name=KegoyaYasuhito
en-aut-sei=Kegoya
en-aut-mei=Yasuhito
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=OtaniYoshihiro
en-aut-sei=Otani
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=InoueYohei
en-aut-sei=Inoue
en-aut-mei=Yohei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=MizutaRyo
en-aut-sei=Mizuta
en-aut-mei=Ryo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=HigakiFumiyo
en-aut-sei=Higaki
en-aut-mei=Fumiyo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=WashioKana
en-aut-sei=Washio
en-aut-mei=Kana
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=KoizumiShinichiro
en-aut-sei=Koizumi
en-aut-mei=Shinichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=KurozumiKazuhiko
en-aut-sei=Kurozumi
en-aut-mei=Kazuhiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=IshidaJoji
en-aut-sei=Ishida
en-aut-mei=Joji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=FujiiKentaro
en-aut-sei=Fujii
en-aut-mei=Kentaro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=YamamotoNorio
en-aut-sei=Yamamoto
en-aut-mei=Norio
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=TanakaYoshihiro
en-aut-sei=Tanaka
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

en-aut-name=DateIsao
en-aut-sei=Date
en-aut-mei=Isao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=

affil-num=1
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=3
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=5
en-affil=Department of Radiology, Okayama University Faculty of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=6
en-affil=Department of Pediatrics, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=7
en-affil=Department of Neurosurgery, Hamamatsu University School of Medicine
kn-affil=

affil-num=8
en-affil=Department of Neurosurgery, Hamamatsu University School of Medicine
kn-affil=

affil-num=9
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=10
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=11
en-affil=Department of Epidemiology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=12
en-affil=Division of Epidemiology, Graduate School of Public Health, Shizuoka Graduate University of Public Health
kn-affil=

affil-num=13
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=
en-keyword=Diffuse hemispheric gliomas, H3 G34-mutation
kn-keyword=Diffuse hemispheric gliomas, H3 G34-mutation
en-keyword=Midline invasion
kn-keyword=Midline invasion
en-keyword=Frontal lobe
kn-keyword=Frontal lobe
en-keyword=Gross total resection
kn-keyword=Gross total resection
END

start-ver=1.4
cd-journal=joma
no-vol=64
cd-vols=
no-issue=1
article-no=
start-page=1
end-page=9
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2024
dt-pub=2024
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Analysis of Notch1 protein expression in methotrexate-associated lymphoproliferative disorders
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Methotrexate (MTX)-associated lymphoproliferative disorder (MTX-LPD) is a lymphoproliferative disorder in patients treated with MTX. The mechanism of pathogenesis is still elusive, but it is thought to be a complex interplay of factors, such as underlying autoimmune disease activity, MTX use, Epstein-Barr virus infection, and aging. The NOTCH genes encode receptors for a signaling pathway that regulates various fundamental cellular processes, such as proliferation and differentiation during embryonic development. Mutations of NOTCH1 have been reported in B-cell tumors, including chronic lymphocytic leukemia/ lymphoma, mantle cell lymphoma, and diffuse large B-cell lymphoma (DLBCL). Recently, it has also been reported that NOTCH1 mutations are found in post-transplant lymphoproliferative disorders, and in CD20-positive cells in angioimmunoblastic T-cell lymphoma, which might be associated with lymphomagenesis in immunodeficiency. In this study, to investigate the association of NOTCH1 in the pathogenesis of MTX-LPD, we evaluated protein expression of Notch1 in nuclei immunohistochemically in MTX-LPD cases [histologically DLBCL-type (n = 24) and classical Hodgkin lymphoma (CHL)-type (n = 24)] and de novo lymphoma cases [DLBCL (n = 19) and CHL (n = 15)]. The results showed that among MTX-LPD cases, the expression of Notch1 protein was significantly higher in the DLBCL type than in the CHL type (P < 0.001). In addition, among DLBCL morphology cases, expression of Notch1 tended to be higher in MTX-LPD than in the de novo group; however this difference was not significant (P = 0.0605). The results showed that NOTCH1 may be involved in the proliferation and tumorigenesis of B cells under the use of MTX. Further research, including genetic studies, is necessary.
en-copyright=
kn-copyright=

en-aut-name=OkataniTakeshi
en-aut-sei=Okatani
en-aut-mei=Takeshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=NishimuraMidori Filiz
en-aut-sei=Nishimura
en-aut-mei=Midori Filiz
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=EgusaYuria
en-aut-sei=Egusa
en-aut-mei=Yuria
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=YoshidaSayako
en-aut-sei=Yoshida
en-aut-mei=Sayako
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=NishimuraYoshito
en-aut-sei=Nishimura
en-aut-mei=Yoshito
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=NishikoriAsami
en-aut-sei=Nishikori
en-aut-mei=Asami
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=YoshinoTadashi
en-aut-sei=Yoshino
en-aut-mei=Tadashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=YamamotoHidetaka
en-aut-sei=Yamamoto
en-aut-mei=Hidetaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=SatoYasuharu
en-aut-sei=Sato
en-aut-mei=Yasuharu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

affil-num=1
en-affil=Department of Pathology and Oncology, Okayama University  Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Molecular Hematopathology, Okayama University Graduate School of  Health Sciences
kn-affil=

affil-num=3
en-affil=Department of Molecular Hematopathology, Okayama University Graduate School of  Health Sciences
kn-affil=

affil-num=4
en-affil=Department of Molecular Hematopathology, Okayama University Graduate School of  Health Sciences
kn-affil=

affil-num=5
en-affil=Department of General Medicine, Okayama University Graduate School  of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=6
en-affil=Department of Molecular Hematopathology, Okayama University Graduate School of  Health Sciences
kn-affil=

affil-num=7
en-affil=Department of Pathology and Oncology, Okayama University  Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=8
en-affil=Department of Pathology and Oncology, Okayama University  Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences
kn-affil=

affil-num=9
en-affil=Department of Molecular Hematopathology, Okayama University Graduate School of  Health Sciences
kn-affil=
en-keyword=methotrexate-associated lymphoproliferative disorders
kn-keyword=methotrexate-associated lymphoproliferative disorders
en-keyword=other iatrogenic immunodeficiency-associated lymphoproliferative disorders
kn-keyword=other iatrogenic immunodeficiency-associated lymphoproliferative disorders
en-keyword=lymphoproliferative disorders arising in immune deficiency/dysregulation
kn-keyword=lymphoproliferative disorders arising in immune deficiency/dysregulation
en-keyword=NOTCH1
kn-keyword=NOTCH1
END

start-ver=1.4
cd-journal=joma
no-vol=63
cd-vols=
no-issue=7
article-no=
start-page=e80
end-page=e85
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2022
dt-pub=20220528
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Novel animal model of combined generalized and focal epilepsy
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Thioredoxin, encoded by Txn1, is a critical antioxidant that protects against oxidative damage by regulating the dithiol/disulfide balance of interacting proteins. We recently discovered the Adem rat, an epileptic rat harboring the Txn1-F54L mutation, characterized by wild running and vacuolar degeneration in the midbrain. This study aimed to characterize the classification of epilepsy in Adem rats. We performed simultaneous video-electroencephalographic recordings, magnetic resonance imaging, neurotransmitter measurements using gas chromatography?mass spectrometry (GC-MS), and immunohistochemistry. Adem rats exhibited absence, tonic, and focal seizures. The type of epilepsy was classified as combined generalized and focal epilepsy. Neurotransmitters in the midbrain and cortex were measured at 3 weeks of age, when neuronal cell death occurs in the midbrain. The results of GC-MS ruled out the dominance of the excitatory system in the midbrain and cortex of Adem rats. Activation of astrocytes and microglia was more pronounced at 5 weeks of age, at which time epileptic seizures occurred frequently. The underlying pathology in Adem rats remains unknown. However, glial cell activation and inflammation may play a significant role in the occurrence of epilepsy.
en-copyright=
kn-copyright=

en-aut-name=OhmoriIori
en-aut-sei=Ohmori
en-aut-mei=Iori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=ShinoharaMasakazu
en-aut-sei=Shinohara
en-aut-mei=Masakazu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=KobayashiKiyoka
en-aut-sei=Kobayashi
en-aut-mei=Kiyoka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=IshidaSaeko
en-aut-sei=Ishida
en-aut-mei=Saeko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MashimoTomoji
en-aut-sei=Mashimo
en-aut-mei=Tomoji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

affil-num=1
en-affil=Section of Developmental Physiology and Pathology, Faculty of Education, Okayama University
kn-affil=

affil-num=2
en-affil=Department of Molecular Oncology, Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=3
en-affil=Division of Epidemiology, Kobe University Graduate School of Medicine
kn-affil=

affil-num=4
en-affil=Otsuka Pharmaceutical
kn-affil=

affil-num=5
en-affil=Division of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, University of Tokyo
kn-affil=

affil-num=6
en-affil=Division of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, University of Tokyo
kn-affil=
en-keyword=animal model
kn-keyword=animal model
en-keyword=combined generalized and focal epilepsy
kn-keyword=combined generalized and focal epilepsy
en-keyword=oxidative stress
kn-keyword=oxidative stress
en-keyword=thioredoxin
kn-keyword=thioredoxin
END

start-ver=1.4
cd-journal=joma
no-vol=77
cd-vols=
no-issue=3
article-no=
start-page=323
end-page=330
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2023
dt-pub=202306
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Utility of Comprehensive Genomic Profiling for Precise Diagnosis of Pediatric-Type Diffuse High-Grade Glioma
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=In the current World Health Organization classification of central nervous system tumors, comprehensive genetic and epigenetic analyses are considered essential for precise diagnosis. A 14-year-old male patient who presented with a cerebellar tumor was initially diagnosed with glioblastoma and treated with radiation and concomitant temozolomide chemotherapy after resection. During maintenance temozolomide therapy, a new contrast-enhanced lesion developed in the bottom of the cavity formed by the resection. A second surgery was performed, but the histological findings in specimens from the second surgery were different from those of the first surgery. Although genome-wide DNA methylation profiling was conducted using frozen tissue for a precise diagnosis, the proportion of tumor cells was insufficient and only normal cerebellum was observed. We then performed comprehensive genetic analysis using formalin-fixed paraffin-embedded sections, which revealed MYCN amplification without alteration of IDH1, IDH2, or Histone H3. Finally, the patient was diagnosed with pediatric-type diffuse high-grade glioma, H3-wildtype and IDH-wildtype. In conclusion, comprehensive genetic and epigenetic analysis should be considered in pediatric brain tumor cases.
en-copyright=
kn-copyright=

en-aut-name=MakinoKeigo
en-aut-sei=Makino
en-aut-mei=Keigo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=OtaniYoshihiro
en-aut-sei=Otani
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=FujiiKentaro
en-aut-sei=Fujii
en-aut-mei=Kentaro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=IshidaJoji
en-aut-sei=Ishida
en-aut-mei=Joji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=HiranoShuichiro 
en-aut-sei=Hirano
en-aut-mei=Shuichiro 
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=SurugaYasuki
en-aut-sei=Suruga
en-aut-mei=Yasuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=WashioKana
en-aut-sei=Washio
en-aut-mei=Kana
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=NishidaKenji
en-aut-sei=Nishida
en-aut-mei=Kenji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=YanaiHiroyuki
en-aut-sei=Yanai
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=TomidaShuta
en-aut-sei=Tomida
en-aut-mei=Shuta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=EnnishiDaisuke
en-aut-sei=Ennishi
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=DateIsao
en-aut-sei=Date
en-aut-mei=Isao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

affil-num=1
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=3
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=5
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=6
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=7
en-affil=Departments of Pediatrics, Okayama University Hospital
kn-affil=

affil-num=8
en-affil=Departments of Pathology, Okayama University Hospital
kn-affil=

affil-num=9
en-affil=Departments of Pathology, Okayama University Hospital
kn-affil=

affil-num=10
en-affil=Center for Comprehensive Genomic Medicine, Okayama University Hospital
kn-affil=

affil-num=11
en-affil=Center for Comprehensive Genomic Medicine, Okayama University Hospital
kn-affil=

affil-num=12
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=comprehensive genomic profiling
kn-keyword=comprehensive genomic profiling
en-keyword=pediatric brain tumor
kn-keyword=pediatric brain tumor
en-keyword=genome-wide DNA methylation
kn-keyword=genome-wide DNA methylation
en-keyword=MYCN
kn-keyword=MYCN
END

start-ver=1.4
cd-journal=joma
no-vol=175
cd-vols=
no-issue=
article-no=
start-page=105921
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2022
dt-pub=202212
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Thioredoxin deficiency increases oxidative stress and causes bilateral symmetrical degeneration in rat midbrain
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Thioredoxin, encoded by Txn1, acts as a critical antioxidant in the defense against oxidative stress by regulating the dithiol/disulfide balance of interacting proteins. The role of thioredoxin in the central nervous system (CNS) is largely unknown. A phenotype-driven study of N-ethyl-N-nitrosourea-mutated rats with wild-running seizures revealed the importance of Txn1 mutations in CNS degeneration. Genetic mapping identified Txn1-F54L in the epileptic rats. The insulin-reducing activity of Txn1-F54L was approximately one-third of that of the wild-type (WT). Bilateral symmetrical vacuolar degeneration in the midbrain, mainly in the thalamus and the inferior colliculus, was observed in the Txn1-F54L rats. The lesions displayed neuronal and oligodendrocytic cell death. Neurons in Txn1-F54L rats showed morphological changes in the mitochondria. Vacuolar degeneration peaked at five weeks of age, and spontaneous repair began at seven weeks. The TUNEL assay showed that fibroblasts derived from homozygotes were susceptible to cell death under oxidative stress. In five-week-old WT rats, energy metabolism in the thalamus was significantly higher than that in the cerebral cortex. In conclusion, in juvenile rats, Txn1 seems to play an essential role in reducing oxidative stress in the midbrains with high energy metabolism.
en-copyright=
kn-copyright=

en-aut-name=OhmoriIori
en-aut-sei=Ohmori
en-aut-mei=Iori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=ImaiHirohiko
en-aut-sei=Imai
en-aut-mei=Hirohiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=IshidaSaeko
en-aut-sei=Ishida
en-aut-mei=Saeko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=ToyokuniShinya
en-aut-sei=Toyokuni
en-aut-mei=Shinya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MashimoTomoji
en-aut-sei=Mashimo
en-aut-mei=Tomoji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

affil-num=1
en-affil=Section of Developmental Physiology and Pathology, Faculty of Education, Okayama University
kn-affil=

affil-num=2
en-affil=Department of Molecular Oncology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=3
en-affil=Department of Systems Science, Kyoto University Graduate School of Informatics
kn-affil=

affil-num=4
en-affil=Division of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, The University of Tokyo
kn-affil=

affil-num=5
en-affil=Department of Pathology and Biological Responses, Nagoya University Graduate School of Medicine
kn-affil=

affil-num=6
en-affil=Division of Animal Genetics, Laboratory Animal Research Center, Institute of Medical Science, The University of Tokyo
kn-affil=
en-keyword=Txn1
kn-keyword=Txn1
en-keyword=Thioredoxin
kn-keyword=Thioredoxin
en-keyword=Mitochondria
kn-keyword=Mitochondria
en-keyword=Vacuolar degeneration
kn-keyword=Vacuolar degeneration
en-keyword=Epilepsy
kn-keyword=Epilepsy
en-keyword=Oxidative stress
kn-keyword=Oxidative stress
END

start-ver=1.4
cd-journal=joma
no-vol=76
cd-vols=
no-issue=4
article-no=
start-page=473
end-page=477
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2022
dt-pub=202208
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Genomic Profiling of a Case of Glioneuronal Tumor with Neuropil-like Islands
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Glioneuronal tumor with neuropil-like islands (GNTNI) is a very rare subtype of glioneuronal tumor. We present a case of a 62-year-old man with GNTNI. Two adjacent lesions in the left parietal lobe were removed by left parietal craniotomy. The histological findings were glial cell proliferation and scattered rosettes consisting of synaptophysin-positive and NeuN-positive cells, leading to the diagnosis of GNTNI. Target sequencing revealed a genetic alteration similar to glioblastoma, IDH-wild type, which suggested adjuvant therapies. There are few previous reports on the treatment of this disease, and the patient should be followed carefully.
en-copyright=
kn-copyright=

en-aut-name=TsuboiNobushige
en-aut-sei=Tsuboi
en-aut-mei=Nobushige
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=IshidaJoji
en-aut-sei=Ishida
en-aut-mei=Joji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=ShimazuYosuke
en-aut-sei=Shimazu
en-aut-mei=Yosuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=EdakiHisanori
en-aut-sei=Edaki
en-aut-mei=Hisanori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=UnedaAtsuhito
en-aut-sei=Uneda
en-aut-mei=Atsuhito
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=OtaniYoshihiro
en-aut-sei=Otani
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=FujiiKentaro
en-aut-sei=Fujii
en-aut-mei=Kentaro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=KurozumiKazuhiko
en-aut-sei=Kurozumi
en-aut-mei=Kazuhiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=EnnishiDaisuke
en-aut-sei=Ennishi
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=YanaiHiroyuki
en-aut-sei=Yanai
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=DateIsao
en-aut-sei=Date
en-aut-mei=Isao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

affil-num=1
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=3
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=5
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=6
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=7
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=8
en-affil=Department of Neurosurgery, Hamamatsu University School of Medicine
kn-affil=

affil-num=9
en-affil=Center for Comprehensive Genomic Medicine, Okayama University Hospital
kn-affil=

affil-num=10
en-affil=Department of Pathology, Okayama University Hospital
kn-affil=

affil-num=11
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=glioneuronal tumor with neuropil-like islands
kn-keyword=glioneuronal tumor with neuropil-like islands
en-keyword= genomic profiling
kn-keyword= genomic profiling
END

start-ver=1.4
cd-journal=joma
no-vol=75
cd-vols=
no-issue=6
article-no=
start-page=759
end-page=762
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2021
dt-pub=202112
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Pulmonary Enteric Adenocarcinoma Harboring a BRAF G469V Mutation
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Pulmonary enteric adenocarcinoma (PEAC) is a rare subtype of lung cancer that should be differentiated from colorectal cancer metastasis. Little is known about its genetic background. An 84-year-old male with adenocarcinoma of the lung underwent left upper lobectomy. The histology of the surgical specimen was suggestive of PEAC. Gastrointestinal and colorectal fiberscopy revealed no evidence of colorectal cancer. Next-generation sequencing of the tumor identified a G469V substitution in serine/threonine-protein kinase B-raf (BRAF). Based on the higher prevalence of the G469 substitution in BRAF-mutant lung adenocarcinoma than in BRAFmutant colorectal cancer, the tumor likely originated from the lung. Identification of mutational genotype may be of some help in distinguishing PEAC from the lung metastasis of colorectal cancer.
en-copyright=
kn-copyright=

en-aut-name=ShimizuDai
en-aut-sei=Shimizu
en-aut-mei=Dai
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=YamamotoHiromasa
en-aut-sei=Yamamoto
en-aut-mei=Hiromasa
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=ShienKazuhiko
en-aut-sei=Shien
en-aut-mei=Kazuhiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=TaniguchiKohei
en-aut-sei=Taniguchi
en-aut-mei=Kohei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MiyoshiKentaroh
en-aut-sei=Miyoshi
en-aut-mei=Kentaroh
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=NambaKei
en-aut-sei=Namba
en-aut-mei=Kei
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MesakiKumi
en-aut-sei=Mesaki
en-aut-mei=Kumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=SugimotoSeiichiro
en-aut-sei=Sugimoto
en-aut-mei=Seiichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=SohJunichi
en-aut-sei=Soh
en-aut-mei=Junichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=YamaneMasaomi
en-aut-sei=Yamane
en-aut-mei=Masaomi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=ToyookaShinichi
en-aut-sei=Toyooka
en-aut-mei=Shinichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

affil-num=1
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=2
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=3
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=4
en-affil=Department of Diagnostic Pathology, Okayama University Hospital
kn-affil=

affil-num=5
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=6
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=7
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=8
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=9
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=10
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=

affil-num=11
en-affil=Department of Thoracic Surgery, Okayama University Hospital
kn-affil=
en-keyword=non-small cell lung cancer
kn-keyword=non-small cell lung cancer
en-keyword=somatic mutations
kn-keyword=somatic mutations
en-keyword=pulmonary adenocarcinoma with enteric differentiation
kn-keyword=pulmonary adenocarcinoma with enteric differentiation
en-keyword=non-V600E BRAF mutation
kn-keyword=non-V600E BRAF mutation
en-keyword=next-generation sequencing
kn-keyword=next-generation sequencing
END

start-ver=1.4
cd-journal=joma
no-vol=75
cd-vols=
no-issue=4
article-no=
start-page=471
end-page=477
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2021
dt-pub=202108
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Two Types of Polyp Shape Observed in the Stomach of Patients with Peutz-Jeghers Syndrome
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=The characteristics of gastric polyps in patients with Peutz-Jeghers (PJ) syndrome (PJS) have not been fully investigated. The objective of this study was to reveal the endoscopic and pathologic findings of gastric polyps in patients with PJS. We reviewed 11 patients with PJS treated at 6 institutions, and summarized the endo-scopic and pathologic features of their gastric polyps. The polyps were mainly classified into 2 types: (i) soli-tary or sporadic polyps > 5 mm, reddish in color with a sessile or semi-pedunculated morphology (n = 9); and (ii) multiple sessile polyps ? 5 mm with the same color tone as the peripheral mucosa (n = 9). Patients who underwent endoscopic mucosal resection for polyps > 5 mm were diagnosed with PJ polyps (n = 2), whereas those who underwent biopsy were diagnosed with hyperplastic polyps. Polyps ? 5 mm were pathologically diagnosed as fundic gland polyps or hyperplastic polyps. This study revealed that patients with PJS present with 2 types of polyps in the stomach. Endoscopic mucosal resection of polyps > 5 mm seems necessary for the pathologic diagnosis of PJ polyps.
en-copyright=
kn-copyright=

en-aut-name=IwamuroMasaya
en-aut-sei=Iwamuro
en-aut-mei=Masaya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=ToyokawaTatsuya
en-aut-sei=Toyokawa
en-aut-mei=Tatsuya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=MatsuedaKazuhiro
en-aut-sei=Matsueda
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=HoriShinichiro
en-aut-sei=Hori
en-aut-mei=Shinichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=YoshiokaMasao
en-aut-sei=Yoshioka
en-aut-mei=Masao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MoritouYuki
en-aut-sei=Moritou
en-aut-mei=Yuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=TanakaTakehiro
en-aut-sei=Tanaka
en-aut-mei=Takehiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=MizunoMotowo
en-aut-sei=Mizuno
en-aut-mei=Motowo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=OkadaHiroyuki
en-aut-sei=Okada
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

affil-num=1
en-affil=Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Gastroenterology, Fukuyama Medical Center
kn-affil=

affil-num=3
en-affil=Department of Gastroenterology and Hepatology, Kurashiki Central Hospital
kn-affil=

affil-num=4
en-affil=Department of Endoscopy, Shikoku Cancer Center
kn-affil=

affil-num=5
en-affil=Department of Internal Medicine, Okayama Saiseikai General Hospital
kn-affil=

affil-num=6
en-affil=Department of Internal Medicine, Hiroshima City Hiroshima Citizens Hospital
kn-affil=

affil-num=7
en-affil=Department of Pathology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=8
en-affil=Department of Gastroenterology and Hepatology, Kurashiki Central Hospital
kn-affil=

affil-num=9
en-affil=Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=Peutz-Jeghers syndrome
kn-keyword=Peutz-Jeghers syndrome
en-keyword= esophagogastroduodenoscopy
kn-keyword= esophagogastroduodenoscopy
en-keyword=gastric polyps
kn-keyword=gastric polyps
END

start-ver=1.4
cd-journal=joma
no-vol=28
cd-vols=
no-issue=3
article-no=
start-page=dsab008
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2021
dt-pub=2021712
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Chromosome-scale genome assembly of the transformation-amenable common wheat cultivar ‘Fielder’
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=We have established a high-quality, chromosome-level genome assembly for the hexaploid common wheat cultivar ‘Fielder’, an American, soft, white, pastry-type wheat released in 1974 and known for its amenability to Agrobacterium tumefaciens-mediated transformation and genome editing. Accurate, long-read sequences were obtained using PacBio circular consensus sequencing with the HiFi approach. Sequence reads from 16 SMRT cells assembled using the hifiasm assembler produced assemblies with N50 greater than 20?Mb. We used the Omni-C chromosome conformation capture technique to order contigs into chromosome-level assemblies, resulting in 21 pseudomolecules with a cumulative size of 14.7 and 0.3?Gb of unanchored contigs. Mapping of published short reads from a transgenic wheat plant with an edited seed-dormancy gene, TaQsd1, identified four positions of transgene insertion into wheat chromosomes. Detection of guide RNA sequences in pseudomolecules provided candidates for off-target mutation induction. These results demonstrate the efficiency of chromosome-scale assembly using PacBio HiFi reads and their application in wheat genome-editing studies.
en-copyright=
kn-copyright=

en-aut-name=SatoKazuhiro
en-aut-sei=Sato
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=AbeFumitaka
en-aut-sei=Abe
en-aut-mei=Fumitaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=MascherMartin
en-aut-sei=Mascher
en-aut-mei=Martin
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=HabererGeorg
en-aut-sei=Haberer
en-aut-mei=Georg
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=GundlachHeidrun
en-aut-sei=Gundlach
en-aut-mei=Heidrun
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=SpannaglManuel
en-aut-sei=Spannagl
en-aut-mei=Manuel
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=ShirasawaKenta
en-aut-sei=Shirasawa
en-aut-mei=Kenta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=IsobeSachiko
en-aut-sei=Isobe
en-aut-mei=Sachiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

affil-num=1
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=2
en-affil=Institute of Crop Science, NARO
kn-affil=

affil-num=3
en-affil=Leibniz Institute of Plant Genetics and Crop Plant Research (IPK) Gatersleben
kn-affil=

affil-num=4
en-affil=Plant Genome and Systems Biology (PGSB), Helmholtz Center Munich, German Research Center for Environmental Health
kn-affil=

affil-num=5
en-affil=Plant Genome and Systems Biology (PGSB), Helmholtz Center Munich, German Research Center for Environmental Health
kn-affil=

affil-num=6
en-affil=Plant Genome and Systems Biology (PGSB), Helmholtz Center Munich, German Research Center for Environmental Health
kn-affil=

affil-num=7
en-affil=Kazusa DNA Research Institute
kn-affil=

affil-num=8
en-affil=Kazusa DNA Research Institute
kn-affil=
en-keyword=Triticum aestivum
kn-keyword=Triticum aestivum
en-keyword=circular consensus sequencing
kn-keyword=circular consensus sequencing
en-keyword=genome assembly
kn-keyword=genome assembly
en-keyword= pseudomolecules
kn-keyword= pseudomolecules
en-keyword=genome editing
kn-keyword=genome editing
END

start-ver=1.4
cd-journal=joma
no-vol=62
cd-vols=
no-issue=3
article-no=
start-page=447
end-page=457
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2021
dt-pub=2021113
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Mutations in a?Golden2-Like?Gene Cause Reduced Seed Weight in?Barley?albino lemma 1?Mutants
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=The albino lemma 1 (alm1) mutants of barley (Hordeum vulgare L.) exhibit obvious chlorophyll-deficient hulls. Hulls are seed-enclosing tissues on the spike, consisting of the lemma and palea. The alm1 phenotype is also expressed in the pericarp, culm nodes and basal leaf sheaths, but leaf blades and awns are normal green. A single recessive nuclear gene controls tissue-specific alm1 phenotypic expression. Positional cloning revealed that the ALM1 gene encodes a Golden 2-like (GLK) transcription factor, HvGLK2, belonging to the GARP subfamily of Myb transcription factors. This finding was validated by genetic evidence indicating that all 10 alm1 mutants studied had a lesion in functionally important regions of HvGLK2, including the three alpha-helix domains, an AREAEAA motif and the GCT box. Transmission electron microscopy revealed that, in lemmas of the alm1.g mutant, the chloroplasts lacked thylakoid membranes, instead of stacked thylakoid grana in wild-type chloroplasts. Compared with wild type, alm1.g plants showed similar levels of leaf photosynthesis but reduced spike photosynthesis by 34%. The alm1.g mutant and the alm1.a mutant showed a reduction in 100-grain weight by 15.8% and 23.1%, respectively. As in other plants, barley has HvGLK2 and a paralog, HvGLK1. In flag leaves and awns, HvGLK2 and HvGLK1 are expressed at moderate levels, but in hulls, HvGLK1 expression was barely detectable compared with HvGLK2. Barley alm1/Hvglk2 mutants exhibit more severe phenotypes than glk2 mutants of other plant species reported to date. The severe alm1 phenotypic expression in multiple tissues indicates that HvGLK2 plays some roles that are nonredundant with HvGLK1.
en-copyright=
kn-copyright=

en-aut-name=TaketaShin
en-aut-sei=Taketa
en-aut-mei=Shin
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=HattoriMomoko
en-aut-sei=Hattori
en-aut-mei=Momoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=TakamiTsuneaki
en-aut-sei=Takami
en-aut-mei=Tsuneaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=HimiEiko
en-aut-sei=Himi
en-aut-mei=Eiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=SakamotoWataru
en-aut-sei=Sakamoto
en-aut-mei=Wataru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

affil-num=1
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=2
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=3
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=4
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=5
en-affil=IInstitute of Plant Science and Resources, Okayama University
kn-affil=
en-keyword=chloroplast
kn-keyword=chloroplast
en-keyword=GLK2
kn-keyword=GLK2
en-keyword=Hordeum vulgare
kn-keyword=Hordeum vulgare
en-keyword=photosynthesis
kn-keyword=photosynthesis
en-keyword=spike
kn-keyword=spike
en-keyword=thylakoid
kn-keyword=thylakoid
END

start-ver=1.4
cd-journal=joma
no-vol=16
cd-vols=
no-issue=4
article-no=
start-page=e0249909
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2021
dt-pub=20210413
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Lack of collagen alpha 6(IV) chain in mice does not cause severe-to-profound hearing loss or cochlear malformation, a distinct phenotype from nonsyndromic hearing loss with COL4A6 missense mutation
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Congenital hearing loss affects 1 in every 1000 births, with genetic mutations contributing to more than 50% of all cases. X-linked nonsyndromic hereditary hearing loss is associated with six loci (DFNX1-6) and five genes. Recently, the missense mutation (c.1771G>A, p.Gly591Ser) in COL4A6, encoding the basement membrane (BM) collagen alpha 6(IV) chain, was shown to be associated with X-linked congenital nonsyndromic hearing loss with cochlear malformation. However, the mechanism by which the COL4A6 mutation impacts hereditary hearing loss has not yet been elucidated. Herein, we investigated Col4a6 knockout (KO) effects on hearing function and cochlear formation in mice. Immunohistochemistry showed that the collagen alpha 6(IV) chain was distributed throughout the mouse cochlea within subepithelial BMs underlying the interdental cells, inner sulcus cells, basilar membrane, outer sulcus cells, root cells, Reissner's membrane, and perivascular BMs in the spiral limbus, spiral ligament, and stria vascularis. However, the click-evoked auditory brainstem response analysis did not show significant changes in the hearing threshold of Col4a6 KO mice compared with wild-type (WT) mice with the same genetic background. In addition, the cochlear structures of Col4a6 KO mice did not exhibit morphological alterations, according to the results of high-resolution micro-computed tomography and histology. Hence, loss of Col4a6 gene expression in mice showed normal click ABR thresholds and normal cochlear formation, which differs from humans with the COL4A6 missense mutation c.1771G>A, p.Gly591Ser. Therefore, the deleterious effects in the auditory system caused by the missense mutation in COL4A6 are likely due to the dominant-negative effects of the alpha 6(IV) chain and/or alpha 5 alpha 6 alpha 5(IV) heterotrimer with an aberrant structure that would not occur in cases with loss of gene expression.
en-copyright=
kn-copyright=

en-aut-name=TangShaoying
en-aut-sei=Tang
en-aut-mei=Shaoying
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=YonezawaTomoko
en-aut-sei=Yonezawa
en-aut-mei=Tomoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=MaedaYukihide
en-aut-sei=Maeda
en-aut-mei=Yukihide
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=OnoMitsuaki
en-aut-sei=Ono
en-aut-mei=Mitsuaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MaebaTakahiro
en-aut-sei=Maeba
en-aut-mei=Takahiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MiyoshiToru
en-aut-sei=Miyoshi
en-aut-mei=Toru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MomotaRyusuke
en-aut-sei=Momota
en-aut-mei=Ryusuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=TomonoYasuko
en-aut-sei=Tomono
en-aut-mei=Yasuko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=OohashiToshitaka
en-aut-sei=Oohashi
en-aut-mei=Toshitaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

affil-num=1
en-affil=Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=3
en-affil=Department of Otolaryngology-Head and Neck Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=5
en-affil=Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=6
en-affil=Department of Cardiovascular Medicine, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=7
en-affil=Department of Human Morphology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=8
en-affil=Division of Molecular and Cell Biology, Shigei Medical Research Institute
kn-affil=

affil-num=9
en-affil=Department of Molecular Biology and Biochemistry, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
END

start-ver=1.4
cd-journal=joma
no-vol=13
cd-vols=
no-issue=5
article-no=
start-page=46
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=202011
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Panel?based next?generation sequencing facilitates the characterization of childhood acute myeloid leukemia in clinical settings
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Acute myeloid leukemia (AML) accounts for ~20% of pediatric leukemia cases. The prognosis of pediatric AML has been improved in recent decades, but it trails that of most other types of pediatric cancer, with mortality rates of 30?40%. Consequently, newer more targeted drugs are required for incorporation into treatment plans. These newer drugs selectively target AML cells with specific gene alterations. However, there are significant differences in genetic alterations between adult and pediatric patients with AML. In the present study, inexpensive and rapid next?generation sequencing (NGS) of >150 cancer?related genes was performed for matched diagnostic, remission and relapse (if any) samples from 27 pediatric patients with AML. In this analysis, seven genes were recurrently mutated. KRAS was mutated in seven patients, NRAS was mutated in three patients, and KIT, GATA1, WT1, PTPN11, JAK3 and FLT3 were each mutated in two patients. Among patients with relapsed AML, six harbored KRAS mutations at diagnosis; however, four of these patients lost these mutations at relapse. Additionally, two genetic alterations (FLT3?ITD and TP53 alterations) were detected among patients who eventually relapsed, and these mutations are reported to be adverse prognostic factors for adult patients with AML. This panel?based, targeted sequencing approach may be useful in determining the genetic background of pediatric AML and improving the prediction of treatment response and detection of potentially targetable gene alterations. RAS pathway mutations were highly unstable at relapse; therefore, these mutations should be chosen as a target with caution. Incorporating this panel?based NGS approach into the clinical setting may allow for a patient?oriented strategy of precision treatment for childhood AML.
en-copyright=
kn-copyright=

en-aut-name=IshidaHisashi
en-aut-sei=Ishida
en-aut-mei=Hisashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=IguchiAkihiro
en-aut-sei=Iguchi
en-aut-mei=Akihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=AoeMichinori
en-aut-sei=Aoe
en-aut-mei=Michinori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=NishiuchiRitsuo
en-aut-sei=Nishiuchi
en-aut-mei=Ritsuo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MatsubaraTakehiro
en-aut-sei=Matsubara
en-aut-mei=Takehiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=KeinoDai
en-aut-sei=Keino
en-aut-mei=Dai
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=SanadaMasashi
en-aut-sei=Sanada
en-aut-mei=Masashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=ShimadaAkira
en-aut-sei=Shimada
en-aut-mei=Akira
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

affil-num=1
en-affil=Department of Pediatrics/Pediatric Hematology and Oncology, Okayama University Hospital
kn-affil=

affil-num=2
en-affil=Department of Pediatrics, Hokkaido University Hospital
kn-affil=

affil-num=3
en-affil=Division of Medical Support, Okayama University Hospital
kn-affil=

affil-num=4
en-affil=Department of Pediatrics, Kochi Health Sciences Center
kn-affil=

affil-num=5
en-affil=Division of Biobank, Center for Comprehensive Genomic Medicine,   Okayama University Hospital
kn-affil=

affil-num=6
en-affil=Department of Pediatrics,   St. Marianna University School of Medicine Hospital
kn-affil=

affil-num=7
en-affil=Clinical Research Center, National Hospital Organization Nagoya Medical Center
kn-affil=

affil-num=8
en-affil=Department of Pediatrics/Pediatric Hematology and Oncology, Okayama University Hospital
kn-affil=
en-keyword=leukemia
kn-keyword=leukemia
en-keyword=pediatric
kn-keyword=pediatric
en-keyword=acute myeloid leukemia
kn-keyword=acute myeloid leukemia
en-keyword=molecular genetics
kn-keyword=molecular genetics
en-keyword=precision medicine
kn-keyword=precision medicine
END

start-ver=1.4
cd-journal=joma
no-vol=465
cd-vols=
no-issue=
article-no=
start-page=012001
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=2020
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Animal Biotechnology Roles in Livestock Production
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Currently, meat and milk productions are significantly increasing especially in Asia. The supply of these products is vital to people's health and well-being, whereas the efficiency of beef production appears to be still lower than other meat productions. Improvements in the quality and functionality of their livestock products, as well as their production efficiency, are required for further production. Animal biotechnologies have contributed to genetic improvement, genetic diversity maintenance of domestic animals, etc. Basic animal biotechnologies, such as artificial insemination and embryo transfer, have been well established and applied as powerful tools for genetic improvement of livestock. In the applications of artificial insemination techniques, the use of sexed semen has been now widely spread, and also efforts are also made in the development of the technology using a small amount of sperm. For embryo transfer, several types of vitrification technologies have been applied to improve pregnancy rates and contributed to the international/domestic supply of livestock embryos. Conventional animal biotechnologies, such as in vitro fertilization and intracellular sperm injection, have been applied to not only livestock production and also human-assisted reproductive medicine. For in-vitro production of embryos in domestic animals, currently, oocytes have been collected from medium or large follicles (3-6 mm or larger in diameter) of ovaries. Although the oocytes derived from small follicles (less than 3 mm in diameter) exist more on the surface of ovaries, the developmental competence of the oocytes has been known to be significantly lower than those from medium follicles. If we could improve the competence of oocytes derived from small follicles significantly, we may be able to increase the number of female gamete resources for in vitro embryo production. Also, the development of techniques for producing transgenic and cloned animals has greatly contributed to the creation of pharmaceuticals and organs for xenotransplantation. Recently, furthermore, genome editing technologies, such as combined use of CRISPR/Cas9 and PiggyBac, have been developed and have made it possible to correct specific parts of the genome and introduce mutations by homologous recombination. In this review, I would like to discuss the application and progress of the above biotechnologies, including our recent research results.
en-copyright=
kn-copyright=

en-aut-name=FunahashiHiroaki
en-aut-sei=Funahashi
en-aut-mei=Hiroaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

affil-num=1
en-affil=Department of Animal Science, Graduate School of Environmental and Life Science, Okayama University
kn-affil=
END

start-ver=1.4
cd-journal=joma
no-vol=74
cd-vols=
no-issue=4
article-no=
start-page=335
end-page=343
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=202008
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Recurrence of Solitary Fibrous Tumor/Hemangiopericytoma Could Be Predicted by Ki-67 Regardless of Its Origin
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Since the discovery of the NAB2-STAT6 gene fusion in 2013, solitary fibrous tumor (SFT) and hemangiopericytoma (HPC) have been considered the same disease. STAT6 nuclear stain is approved as a highly sensitive and specific marker to diagnose SFT/HPC from other tumors with similar histology. As the next step, detection of fusion variants that may predict clinical malignancy of SFT/HPC has been attempted. However, no fusion variants with a clear relation to malignancy have been identified. In this study, the clinical and histological backgrounds of 23 Japanese patients diagnosed with SFT/HPC from 2000 to 2019 at Kochi University Hospital were examined to identify factors potentially related to recurrence. A significant relationship to recurrence was detected for mitosis ? 1/10 HPF (400×), necrosis, and Ki-67>5%. These findings indicate that a deliberate investigation of histological features such as mitosis and necrosis is crucial for the clinical observation of SFT/ HPC patients. In addition, Ki-67 was revealed to be a useful parameter to predict recurrence in SFT/HPC patients.
en-copyright=
kn-copyright=

en-aut-name=YamamotoYumiko
en-aut-sei=Yamamoto
en-aut-mei=Yumiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=HayashiYoshihiro
en-aut-sei=Hayashi
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=MurakamiIchiro
en-aut-sei=Murakami
en-aut-mei=Ichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

affil-num=1
en-affil=Department of Diagnostic Pathology, Kochi University
kn-affil=

affil-num=2
en-affil=Department of Equipment of Support Planning Office, Kochi University
kn-affil=

affil-num=3
en-affil=Department of Diagnostic Pathology, Kochi University
kn-affil=
en-keyword=solitary fibrous tumor
kn-keyword=solitary fibrous tumor
en-keyword=hemangiopericytoma
kn-keyword=hemangiopericytoma
en-keyword=Ki-67
kn-keyword=Ki-67
en-keyword=NAB2-STAT6
kn-keyword=NAB2-STAT6
en-keyword=WHO classification
kn-keyword=WHO classification
en-keyword=WHO grading criteria
kn-keyword=WHO grading criteria
en-keyword=Marseille Grading System
kn-keyword=Marseille Grading System
END

start-ver=1.4
cd-journal=joma
no-vol=8
cd-vols=
no-issue=6
article-no=
start-page=822
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=20200530
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Lanthanide-Dependent Methanol and Formaldehyde Oxidation inMethylobacterium aquaticumStrain 22A
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Lanthanides (Ln) are an essential cofactor for XoxF-type methanol dehydrogenases (MDHs) in Gram-negative methylotrophs. The Ln(3+)dependency of XoxF has expanded knowledge and raised new questions in methylotrophy, including the differences in characteristics of XoxF-type MDHs, their regulation, and the methylotrophic metabolism including formaldehyde oxidation. In this study, we genetically identified one set of Ln(3+)- and Ca2+-dependent MDHs (XoxF1 and MxaFI), that are involved in methylotrophy, and an ExaF-type Ln(3+)-dependent ethanol dehydrogenase, among six MDH-like genes inMethylobacterium aquaticumstrain 22A. We also identified the causative mutations in MxbD, a sensor kinase necessary formxaFexpression andxoxF1repression, for suppressive phenotypes inxoxF1mutants defective in methanol growth even in the absence of Ln(3+). Furthermore, we examined the phenotypes of a series of formaldehyde oxidation-pathway mutants (fae1,fae2,mchin the tetrahydromethanopterin (H4MPT) pathway andhgdin the glutathione-dependent formaldehyde dehydrogenase (GSH) pathway). We found that MxaF produces formaldehyde to a toxic level in the absence of the formaldehyde oxidation pathways and that either XoxF1 or ExaF can oxidize formaldehyde to alleviate formaldehyde toxicity in vivo. Furthermore, the GSH pathway has a supportive role for the net formaldehyde oxidation in addition to the H4MPT pathway that has primary importance. Studies on methylotrophy inMethylobacteriumspecies have a long history, and this study provides further insights into genetic and physiological diversity and the differences in methylotrophy within the plant-colonizing methylotrophs.
en-copyright=
kn-copyright=

en-aut-name=YanpiratPatcha
en-aut-sei=Yanpirat
en-aut-mei=Patcha
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=NakatsujiYukari
en-aut-sei=Nakatsuji
en-aut-mei=Yukari
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=HiragaShota
en-aut-sei=Hiraga
en-aut-mei=Shota
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=FujitaniYoshiko
en-aut-sei=Fujitani
en-aut-mei=Yoshiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=IzumiTerumi
en-aut-sei=Izumi
en-aut-mei=Terumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MasudaSachiko
en-aut-sei=Masuda
en-aut-mei=Sachiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MitsuiRyoji
en-aut-sei=Mitsui
en-aut-mei=Ryoji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=NakagawaTomoyuki
en-aut-sei=Nakagawa
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=TaniAkio
en-aut-sei=Tani
en-aut-mei=Akio
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

affil-num=1
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=2
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=3
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=4
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=5
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=6
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=7
en-affil=Department of Biochemistry, Faculty of Science, Okayama University of Science
kn-affil=

affil-num=8
en-affil=The United Graduate School of Agricultural Science, Gifu University
kn-affil=

affil-num=9
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=
en-keyword=lanthanide
kn-keyword=lanthanide
en-keyword=methylotroph
kn-keyword=methylotroph
en-keyword=XoxF
kn-keyword=XoxF
en-keyword=methanol dehydrogenase
kn-keyword=methanol dehydrogenase
en-keyword=Methylobacteriumspecies
kn-keyword=Methylobacteriumspecies
END

start-ver=1.4
cd-journal=joma
no-vol=64
cd-vols=
no-issue=6
article-no=
start-page=435
end-page=444
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=20200328
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Genomic characterization of antibiotic resistance‐encoding genes in clinical isolates of Vibrio cholerae non‐O1/non‐O139 strains from Kolkata, India: generation of novel types of genomic islands containing plural antibiotic resistance genes
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Non‐O1/non‐O139 nontoxigenic Vibrio cholerae associated with cholera‐like diarrhea has been reported in Kolkata, India. However, the property involved in the pathogenicity of these strains has remained unclear. The character of 25 non‐O1/non‐O139 nontoxigenic V. cholerae isolated during 8 years from 2007 to 2014 in Kolkata was examined. Determination of the serogroup showed that the serogroups O6, O10, O35, O36, O39, and O70 were represented by two strains in each serogroup, and the remaining isolates belonged to different serogroups. To clarify the character of antibiotic resistance of these isolates, an antibiotic resistance test and the gene analysis were performed. According to antimicrobial drug susceptibility testing, 13 strains were classified as drug resistant. Among them, 10 strains were quinolone resistant and 6 of the 13 strains were resistant to more than three antibiotics. To define the genetic background of the antibiotic character of these strains, whole‐genome sequences of these strains were determined. From the analysis of these sequences, it becomes clear that all quinolone resistance isolates have mutations in quinolone resistance‐determining regions. Further research on the genome sequence showed that four strains possess Class 1 integrons in their genomes, and that three of the four integrons are found to be located in their genomic islands. These genomic islands are novel types. This indicates that various integrons containing drug resistance genes are spreading among V. cholerae non‐O1/non‐O139 strains through the action of newly generated genomic islands.
en-copyright=
kn-copyright=

en-aut-name=MoritaDaichi
en-aut-sei=Morita
en-aut-mei=Daichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=TakahashiEizo
en-aut-sei=Takahashi
en-aut-mei=Eizo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=MoritaMasatomo
en-aut-sei=Morita
en-aut-mei=Masatomo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=OhnishiMakoto
en-aut-sei=Ohnishi
en-aut-mei=Makoto
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=MizunoTamaki
en-aut-sei=Mizuno
en-aut-mei=Tamaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=Miyoshi Shin‐ichi
en-aut-sei=Miyoshi
en-aut-mei= Shin‐ichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=DuttaDevarati
en-aut-sei=Dutta
en-aut-mei=Devarati
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=RamamurthyThandavarayan
en-aut-sei=Ramamurthy
en-aut-mei=Thandavarayan
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=ChowdhuryGoutam
en-aut-sei=Chowdhury
en-aut-mei=Goutam
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=Mukhopadhyay Asish K.
en-aut-sei=Mukhopadhyay
en-aut-mei= Asish K.
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=OkamotoKeinosuke
en-aut-sei=Okamoto
en-aut-mei=Keinosuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

affil-num=1
en-affil=Collaborative Research Center of Okayama University for Infectious Diseases in India, Okayama University
kn-affil=

affil-num=2
en-affil=Collaborative Research Center of Okayama University for Infectious Diseases in India, Okayama University
kn-affil=

affil-num=3
en-affil=Department of Bacteriology I, National Institute of Infectious Diseases
kn-affil=

affil-num=4
en-affil=Department of Bacteriology I, National Institute of Infectious Diseases
kn-affil=

affil-num=5
en-affil=Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=6
en-affil=Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=7
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=8
en-affil=Center for Human Microbial Ecology, Translational Health Science and Technology Institute
kn-affil=

affil-num=9
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=10
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=11
en-affil=Collaborative Research Center of Okayama University for Infectious Diseases in India, Okayama University
kn-affil=
en-keyword=antibiotic resistance
kn-keyword=antibiotic resistance
en-keyword=diarrhea
kn-keyword=diarrhea
en-keyword=genome sequence
kn-keyword=genome sequence
en-keyword=genomic island
kn-keyword=genomic island
en-keyword=integron
kn-keyword=integron
en-keyword=Vibrio cholerae
kn-keyword=Vibrio cholerae
END

start-ver=1.4
cd-journal=joma
no-vol=74
cd-vols=
no-issue=2
article-no=
start-page=165
end-page=169
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2020
dt-pub=202004
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Identification of a Novel ACVRL1 Gene Mutation (c.100T>A, p.Cys34Ser) in a Japanese Patient with Possible Hereditary Hemorrhagic Telangiectasia (Osler-Weber-Rendu Disease)
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Hereditary hemorrhagic telangiectasia (HHT; also known as Osler-Weber-Rendu disease) is an autosomal dominant genetic disorder that causes frequent epistaxis, mucocutaneous telangiectasia, and visceral arteriovenous malformations. Four genes (ENG, ACVRL1, SMAD4, and GDF2) have been identified as pathogenic in HHT. We describe the case of a 50-year-old Japanese man highly suspected of having HHT due to recurrent epistaxis, mucocutaneous telangiectasia, and a family history. Genomic analysis revealed a novel missense mutation of c.100T>A, p.Cys34Ser in the patient’s ACVRL1 gene. We used 6 freeware programs to perform an in silico analysis of this mutation. The results demonstrated the mutation’s high pathogenicity.
en-copyright=
kn-copyright=

en-aut-name=UmemuraHiroshi
en-aut-sei=Umemura
en-aut-mei=Hiroshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=MiuraKatsuhiro 
en-aut-sei=Miura
en-aut-mei=Katsuhiro 
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=NaruseHiromu
en-aut-sei=Naruse
en-aut-mei=Hiromu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=HattaYoshihiro
en-aut-sei=Hatta
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=TakeiMasami
en-aut-sei=Takei
en-aut-mei=Masami
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=NakayamaTomohiro
en-aut-sei=Nakayama
en-aut-mei=Tomohiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

affil-num=1
en-affil=Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine
kn-affil=

affil-num=2
en-affil=Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine
kn-affil=

affil-num=3
en-affil=Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine
kn-affil=

affil-num=4
en-affil=Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine
kn-affil=

affil-num=5
en-affil=Division of Hematology and Rheumatology, Department of Medicine, Nihon University School of Medicine
kn-affil=

affil-num=6
en-affil=Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine
kn-affil=
en-keyword=ACVRL1
kn-keyword=ACVRL1
en-keyword=hereditary hemorrhagic telangiectasia
kn-keyword=hereditary hemorrhagic telangiectasia
en-keyword=in silico analysis
kn-keyword=in silico analysis
en-keyword=missense mutation
kn-keyword=missense mutation
en-keyword=Osler-Weber- Rendu disease
kn-keyword=Osler-Weber- Rendu disease
END

start-ver=1.4
cd-journal=joma
no-vol=21
cd-vols=
no-issue=
article-no=
start-page=100515
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2019
dt-pub=20191231
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Clinical and genetic aspects of mild hypophosphatasia in Japanese patients
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background: Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from a dysfunctional tissue non-specific alkaline phosphatase enzyme (TNSALP). Although genotype-phenotype correlations have been described in HPP patients, only sparse information is currently available on the genetics of mild type HPP.<br/>
Methods: We investigated 5 Japanese patients from 3 families with mild HPP (patients 1 and 2 are siblings; patient 4 is a daughter of patient 5) who were referred to Fujita Health University due to the premature loss of deciduous teeth. Physical and dental examinations, and blood, urine and bone density tests were conducted. Genetic analysis of the ALPL gene was performed in all patients with their informed consent.<br/>
Results: After a detailed interview and examination, we found characteristic symptoms of HPP in some of the study cases. Mobile teeth or the loss of permanent teeth were observed in 2 patients, and 3 out of 5 patients had a history of asthma. The serum ALP levels of all patients were 30% below the lower limit of the age equivalent normal range. ALPL gene analysis revealed compound heterozygous mutations, including Ile395Val and Leu520Argfs in family 1, Val95Met and Gly491Arg in family 2, and a dominant missense mutation (Gly456Arg) in family 3. The 3D-modeling of human TNSALP revealed three mutations (Val95Met, Ile395Val and Gly456Arg) at the homodimer interface. Severe collisions between the side chains were predicted for the Gly456Arg variant.<br/>
Discussion: One of the characteristic findings of this present study was a high prevalence of coexisting asthma and a high level serum IgE level. These characteristics may account for the fragility of tracheal tissues and a predisposition to asthma in patients with mild HPP. The genotypes of the five mild HPP patients in our present study series included 1) compound heterozygous for severe and hypomorphic mutations, and 2) dominant-negative mutations. All of these mutations were at the homodimer interface, but only the dominant-negative mutation was predicted to cause a severe collision effect between the side chains. This may account for varying mechanisms leading to different effects on TNSALP function.
en-copyright=
kn-copyright=

en-aut-name=YokoiKatsuyuki
en-aut-sei=Yokoi
en-aut-mei=Katsuyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=NakajimaYoko
en-aut-sei=Nakajima
en-aut-mei=Yoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=ShinkaiYasuko
en-aut-sei=Shinkai
en-aut-mei=Yasuko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=SanoYoshimi
en-aut-sei=Sano
en-aut-mei=Yoshimi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=ImamuraMototaka
en-aut-sei=Imamura
en-aut-mei=Mototaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=AkiyamaTomoyuki
en-aut-sei=Akiyama
en-aut-mei=Tomoyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=YoshikawaTetsushi
en-aut-sei=Yoshikawa
en-aut-mei=Tetsushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=ItoTetsuya
en-aut-sei=Ito
en-aut-mei=Tetsuya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=KurahashiHiroki
en-aut-sei=Kurahashi
en-aut-mei=Hiroki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

affil-num=1
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=

affil-num=2
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=

affil-num=3
en-affil=Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University
kn-affil=

affil-num=4
en-affil=Department of Plastic Surgery, Division of Pediatric Dentistry & Orthodontics, Fujita Health University of Medicine
kn-affil=

affil-num=5
en-affil=Department of Plastic Surgery, Division of Pediatric Dentistry & Orthodontics, Fujita Health University of Medicine
kn-affil=

affil-num=6
en-affil=Department of Child Neurology, Okayama University Hospital
kn-affil=

affil-num=7
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=

affil-num=8
en-affil=Department of Pediatrics, Fujita Health University School of Medicine
kn-affil=

affil-num=9
en-affil=Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University
kn-affil=
en-keyword=ALPL
kn-keyword=ALPL
en-keyword=Dominant-negative mutations
kn-keyword=Dominant-negative mutations
en-keyword=Hypophosphatasia
kn-keyword=Hypophosphatasia
en-keyword=Premature loss of deciduous
kn-keyword=Premature loss of deciduous
END

start-ver=1.4
cd-journal=joma
no-vol=49
cd-vols=
no-issue=3
article-no=
start-page=521
end-page=526
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2007
dt-pub=20071121
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Rasmussen encephalitis associated with SCN1A mutation
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Mutations in the SCN 1 A gene, encoding the neuronal voltage-gated sodium channel alpha1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN 1 A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN 1 A and then heterologously expressed in HEK293 cells along with the human beta1 and beta2 sodium channel accessory subunits. Whole-cell patch-clamp recording was used to define biophysical properties. The R1575C channels exhibited increased channel availability and an increased persistent sodium current in comparison to the wild-type. These defects of electrophysiological properties can result in neuronal hyperexitability. The seizure susceptibility allele may influence the pathogenesis of Rasmussen encephalitis in this case.
en-copyright=
kn-copyright=

en-aut-name=OhmoriIori
en-aut-sei=Ohmori
en-aut-mei=Iori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=JitsumoriYoshimi
en-aut-sei=Jitsumori
en-aut-mei=Yoshimi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=InoueTakushi
en-aut-sei=Inoue
en-aut-mei=Takushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=ShimizuKenji
en-aut-sei=Shimizu
en-aut-mei=Kenji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MatsuiHideki
en-aut-sei=Matsui
en-aut-mei=Hideki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=OhtsukaYoko
en-aut-sei=Ohtsuka
en-aut-mei=Yoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=MaegakiYoshihiro
en-aut-sei=Maegaki
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

affil-num=1
en-affil=Departments of Cellular Physiology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=2
en-affil=Departments of Molecular Genetics, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=3
en-affil=Departments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=4
en-affil=
kn-affil=

affil-num=5
en-affil=Departments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=6
en-affil=Departments of Molecular Genetics, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=7
en-affil=Departments of Cellular Physiology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=8
en-affil=Departments of Child Neurology, Graduate School of Medicine,Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=9
en-affil=Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University
kn-affil=
en-keyword=Rasmussen encephalitis
kn-keyword=Rasmussen encephalitis
en-keyword=SCN1A
kn-keyword=SCN1A
en-keyword=genetic-environmental interaction
kn-keyword=genetic-environmental interaction
END

start-ver=1.4
cd-journal=joma
no-vol=105
cd-vols=
no-issue=1-2
article-no=
start-page=220
end-page=224
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2013
dt-pub=201307
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Inhalation of 10% carbon dioxide rapidly terminates Scn1a mutation-related hyperthermia-induced seizures
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= The aim of this study was to assess the anticonvulsant effect of carbon dioxide (CO2) on Scn1a mutation-related febrile seizures. We examined physiological changes in the blood gas levels after the induction of hyperthermia-induced seizures (HISs), which were associated with the Scn1a missense mutation. We determined the efficacy of inhalation of 5% or 10% CO2 to treat HISs. HISs were evoked in Scn1a mutant and wild-type (WT) rats by hot water baths. To determine the anticonvulsant effect of CO2 inhalation, rats were placed in a chamber filled with air or mixed gas containing 5% CO2 or 10% CO2 for 3 min, immediately after the induction of HISs. We also analyzed the blood gas levels at the end of inhalation of CO2. Hot water bathing induced a significant reduction in the partial pressure of CO2 (pCO2) and respiratory alkalosis in the WT and Scn1a mutant rats. HISs were evoked in 100% of the Scn1a mutant rats within 5 min, but in none of the WT rats. The Scn1a mutant rats demonstrated a higher HISs susceptibility associated with respiratory alkalosis than the WT rats. Inhalation of 10% CO2 shortened the seizure duration from 62.6±12.1 s to 15.5±1.0 s. Blood gas analysis after the inhalation of 10% CO2 demonstrated an elevated pCO2 level and respiratory acidosis. Inhalation of 10% CO2 demonstrated a potent and fast-acting anticonvulsant effect against HISs.
en-copyright=
kn-copyright=

en-aut-name=OhmoriIori
en-aut-sei=Ohmori
en-aut-mei=Iori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=HayashiKeiichiro
en-aut-sei=Hayashi
en-aut-mei=Keiichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=WangHaijiao
en-aut-sei=Wang
en-aut-mei=Haijiao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=FujitaNaohiro
en-aut-sei=Fujita
en-aut-mei=Naohiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=InoueTakushi
en-aut-sei=Inoue
en-aut-mei=Takushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MichiueHiroyuki
en-aut-sei=Michiue
en-aut-mei=Hiroyuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=NishikiTeiichi
en-aut-sei=Nishiki
en-aut-mei=Teiichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=MatsuiHideki
en-aut-sei=Matsui
en-aut-mei=Hideki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

affil-num=1
en-affil=Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=2
en-affil=Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=3
en-affil=Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=4
en-affil=Department of Molecular Genetics, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=5
en-affil=Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=6
en-affil=Department of Child Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=7
en-affil=Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=8
en-affil=Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=

affil-num=9
en-affil=Department of Physiology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
kn-affil=
END

start-ver=1.4
cd-journal=joma
no-vol=28
cd-vols=
no-issue=5
article-no=
start-page=1362
end-page=1369
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2019
dt-pub=20190730
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Genome-Edited Triple-Recessive Mutation AltersSeed Dormancy in Wheat
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=1Common wheat has three sets of sub-genomes, making mutations difficult to observe, especially for traits controlled by recessive genes. Here, we produced hexaploid wheat lines with loss of function of homeoalleles of Qsd1, which controls seed dormancy in barley, by Agrobacterium-mediated CRISPR/Cas9. Of the eight transformed wheat events produced, three independent events carrying multiple mutations in wheat Qsd1 homeoalleles were obtained. Notably, one line had mutations in every homeoallele. We crossed this plant with wild-type cultivar Fielder to generate a transgene-free triple-recessive mutant, as revealed by Mendelian segregation. The mutant showed a significantly longer seed dormancy period than wild-type, which may result in reduced pre-harvest sprouting of grains on spikes. PCR, southern blotting, and whole-genome shotgun sequencing revealed that this segregant lacked transgenes in its genomic sequence. This technique serves as a model for trait improvement in wheat, particularly for genetically recessive traits, based on locus information from diploid barley.
en-copyright=
kn-copyright=

en-aut-name=AbeFumitaka
en-aut-sei=Abe
en-aut-mei=Fumitaka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=HaqueEmdadul
en-aut-sei=Haque
en-aut-mei=Emdadul
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=HisanoHiroshi
en-aut-sei=Hisano
en-aut-mei=Hiroshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=TanakaTsuyoshi
en-aut-sei=Tanaka
en-aut-mei=Tsuyoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=KamiyaYoko
en-aut-sei=Kamiya
en-aut-mei=Yoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MikamiMasafumi
en-aut-sei=Mikami
en-aut-mei=Masafumi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=KawauraKanako
en-aut-sei=Kawaura
en-aut-mei=Kanako
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=EndoMasaki
en-aut-sei=Endo
en-aut-mei=Masaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=OnishiKazumitsu
en-aut-sei=Onishi
en-aut-mei=Kazumitsu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=HayashiTakeshi
en-aut-sei=Hayashi
en-aut-mei=Takeshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=SatoKazuhiro
en-aut-sei=Sato
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

affil-num=1
en-affil=Division of Wheat and Barley Research, Institute of Crop Science, NARO
kn-affil=

affil-num=2
en-affil=Division of Wheat and Barley Research, Institute of Crop Science, NARO
kn-affil=

affil-num=3
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=

affil-num=4
en-affil=Division of Basic Research, Institute of Crop Science, NARO
kn-affil=

affil-num=5
en-affil=Kihara Institute for Biological Research, Yokohama City University
kn-affil=

affil-num=6
en-affil=Graduate School of Nanobioscience, Yokohama City University
kn-affil=

affil-num=7
en-affil=Kihara Institute for Biological Research, Yokohama City University
kn-affil=

affil-num=8
en-affil=Division of Applied Genetics, Institute of Agrobiological Sciences, NARO
kn-affil=

affil-num=9
en-affil=Department of Agro-Environmental Science, Obihiro University of Agriculture and Veterinary Medicine
kn-affil=

affil-num=10
en-affil=Division of Basic Research, Institute of Crop Science, NARO
kn-affil=

affil-num=11
en-affil=Institute of Plant Science and Resources, Okayama University
kn-affil=
en-keyword=CRISPR/Cas9
kn-keyword=CRISPR/Cas9
en-keyword=Qsd1
kn-keyword=Qsd1
en-keyword=multiple mutation
kn-keyword=multiple mutation
en-keyword=seed dormancy
kn-keyword=seed dormancy
en-keyword=wheat
kn-keyword=wheat
END

start-ver=1.4
cd-journal=joma
no-vol=73
cd-vols=
no-issue=4
article-no=
start-page=285
end-page=297
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2019
dt-pub=201908
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Dynamic Reorganization of Microtubule and Glioma Invasion
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Gliomas are characterized as highly diffuse infiltrating tumors, and currently available treatments such as surgery, radiation and chemotherapy are unfeasible or show limited efficacy against these tumors. Recent genetic and epigenetic analyses of glioma have revealed increasing evidence of the role of driver genetic alterations in glioma development and led to the identification of prognostic factors. Despite these findings, the survival rates of glioma patients remain low, and alternative treatments and novel targets are needed. Recent studies identified neural stem cells as the possible origin of gliomas, and some evidence has revealed shared functions and mechanisms between glioma cells and neurons, also supporting their similarity. The cytoskeleton plays important roles in the migration of normal cells as well as cancer cells. Recent reports have described a role for microtubules, a component of the cytoskeleton, in glioma invasion. Notably, several factors that regulate microtubule functions, such as microtubule-associated proteins, plus-end tracking proteins, or motor proteins, are upregulated in glioma tissues compared with normal tissue, and upregulation of these factors is associated with high invasiveness of glioma cells. In this review, we describe the mechanism of microtubules in glioma invasion and discuss the possibility of microtubule-targeted therapy to inhibit glioma invasion.
en-copyright=
kn-copyright=

en-aut-name=OtaniYoshihiro
en-aut-sei=Otani
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=IchikawaTomotsugu
en-aut-sei=Ichikawa
en-aut-mei=Tomotsugu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=KurozumiKazuhiko
en-aut-sei=Kurozumi
en-aut-mei=Kazuhiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=DateIsao
en-aut-sei=Date
en-aut-mei=Isao
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

affil-num=1
en-affil=Department of Neurosurgery, The University of Texas Health Science Center at Houston
kn-affil=

affil-num=2
en-affil=Department of Neurosurgery, Kagawa Prefectural Central Hospital
kn-affil=

affil-num=3
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=glioma
kn-keyword=glioma
en-keyword=cytoskeletons
kn-keyword=cytoskeletons
en-keyword=invasion
kn-keyword=invasion
en-keyword=microtubules
kn-keyword=microtubules
END

start-ver=1.4
cd-journal=joma
no-vol=73
cd-vols=
no-issue=3
article-no=
start-page=255
end-page=262
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2019
dt-pub=201906
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Improvement of Open Bite and Stomatognathic Function in an Axenfeld- Rieger Syndrome Patient by Orthodontic Sectional Arch Mechanics: Clinical Considerations and the Risk of Orthodontic Tooth Movement
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Orthodontists need to understand the orthodontic risks associated with systemic disorders. Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with genetic and morphological variability. The risks of orthodontic treatment in ARS patients have been unclear. Here we describe the correction of an anterior open bite in a 15-year-old Japanese female ARS patient by molar intrusion using sectional archwires with miniscrew implants. An undesirable development of external apical root resorption (EARR) was observed in all intrusive force-applied posterior teeth during the patient’s orthodontic treatment, suggesting that ARS patients have a higher risk of EARR than the general population.
en-copyright=
kn-copyright=

en-aut-name=SekiDaisuke
en-aut-sei=Seki
en-aut-mei=Daisuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=TakeshitaNobuo
en-aut-sei=Takeshita
en-aut-mei=Nobuo
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=SeiryuMasahiro
en-aut-sei=Seiryu
en-aut-mei=Masahiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=DeguchiToru
en-aut-sei=Deguchi
en-aut-mei=Toru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=Takano-YamamotoTeruko
en-aut-sei=Takano-Yamamoto
en-aut-mei=Teruko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

affil-num=1
en-affil=Division of Orthodontics and Dentofacial Orthopedics, Tohoku University Graduate School of Dentistry
kn-affil=

affil-num=2
en-affil=Division of Orthodontics and Dentofacial Orthopedics, Tohoku University Graduate School of Dentistry
kn-affil=

affil-num=3
en-affil=Division of Orthodontics and Dentofacial Orthopedics, Tohoku University Graduate School of Dentistry
kn-affil=

affil-num=4
en-affil=Division of Orthodontics, The Ohio State University College of Dentistry
kn-affil=

affil-num=5
en-affil=Department of Biomaterials and Bioengineering, Faculty of Dental Medicine, Hokkaido University
kn-affil=
en-keyword=Axenfeld-Rieger syndrome
kn-keyword=Axenfeld-Rieger syndrome
en-keyword=external apical root resorption
kn-keyword=external apical root resorption
en-keyword=miniscrew implant
kn-keyword=miniscrew implant
en-keyword=anterior open bite
kn-keyword=anterior open bite
END

start-ver=1.4
cd-journal=joma
no-vol=54
cd-vols=
no-issue=
article-no=
start-page=47
end-page=53
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2017
dt-pub=201710
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Characterization of Vibrio cholerae O1 strains that trace the origin of Haitian-like genetic traits
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Vibrio cholerae O1 is the etiological agent of the severe diarrheal disease cholera. The bacterium has recently been causing outbreaks in Haiti with catastrophic effects. Numerous mutations have been reported in V. cholerae O1 strains associated with the Haitian outbreak. These mutations encompass among other the genes encoding virulence factors such as the pilin subunit of the toxin-co-regulated pilus (tcpA), cholera toxin B subunit (ctxB), repeat in toxins (rtxA), and other genes such as the quinolone resistance-determining region (QRDR) of gyrase A (gyrA), rstB of RS element along with the alteration in the number of repeat sequences at the promoter region of ctxAB. Given the numerous genetic changes in those Haitian isolates, we decided to investigate the possible origins of those variations in the Indian subcontinent. Thus, we determined the genetic traits among V. cholerae O1 strains in Delhi, India. A total of 175 strains isolated from cholera patients during 2004 to 2012 were analysed in the present study. Our results showed that all the tested strains carried Haitian type tcpA (tcpACIRS) and variant gyrA indicating their first appearance before 2004 in Delhi. The Haitian variant rtxA and ctxB7 were first detected in Delhi during 2004 and 2006, respectively. Interestingly, not a single strain with the combination of El Tor rtxA and ctxB7 was detected in this study. The Delhi strains carried four heptad repeats (TTTTGAT) in the CT promoter region whereas Haitian strains carried 5 such repeats. Delhi strains did not have any deletion mutations in the rstB like Haitian strains. Overall, our study demonstrates the sequential accumulation of Haitian-like genetic traits among V. cholerae O1 strains in Delhi at different time points prior to the Haitian cholera outbreak.
en-copyright=
kn-copyright=

en-aut-name=GhoshPriyanka
en-aut-sei=Ghosh
en-aut-mei=Priyanka
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=KumarDhirendra
en-aut-sei=Kumar
en-aut-mei=Dhirendra
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=ChowdhuryGoutam
en-aut-sei=Chowdhury
en-aut-mei=Goutam
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=SinghPuneeta
en-aut-sei=Singh
en-aut-mei=Puneeta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=SamantaProsenjit
en-aut-sei=Samanta
en-aut-mei=Prosenjit
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=DuttaShanta
en-aut-sei=Dutta
en-aut-mei=Shanta
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=RamamurthyT.
en-aut-sei=Ramamurthy
en-aut-mei=T.
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=SharmaN. C.
en-aut-sei=Sharma
en-aut-mei=N. C.
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=SinhaPreety
en-aut-sei=Sinha
en-aut-mei=Preety
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=PrasadYogendra
en-aut-sei=Prasad
en-aut-mei=Yogendra
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=ShinodaSumio
en-aut-sei=Shinoda
en-aut-mei=Sumio
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=MukhopadhyayAsish K.
en-aut-sei=Mukhopadhyay
en-aut-mei=Asish K.
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

affil-num=1
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=2
en-affil=Maharishi Valmiki Infectious Diseases Hospital
kn-affil=

affil-num=3
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=4
en-affil=Maharishi Valmiki Infectious Diseases Hospital
kn-affil=

affil-num=5
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=6
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=7
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=

affil-num=8
en-affil=Maharishi Valmiki Infectious Diseases Hospital
kn-affil=

affil-num=9
en-affil=Department of Zoology, A.N. College
kn-affil=

affil-num=10
en-affil=Department of Animal Science, MJP Rohilkhand University
kn-affil=

affil-num=11
en-affil=Collaborative Research Center of Okayama University for Infectious Diseases at NICED
kn-affil=

affil-num=12
en-affil=Division of Bacteriology, National Institute of Cholera and Enteric Diseases
kn-affil=
en-keyword=Cholera
kn-keyword=Cholera
en-keyword=Vibrio cholerae
kn-keyword=Vibrio cholerae
en-keyword=ctxAB promoter
kn-keyword=ctxAB promoter
en-keyword=ctxB
kn-keyword=ctxB
en-keyword=gyrA
kn-keyword=gyrA
en-keyword=rstB
kn-keyword=rstB
en-keyword=rtxA
kn-keyword=rtxA
en-keyword=tcpA
kn-keyword=tcpA
END

start-ver=1.4
cd-journal=joma
no-vol=73
cd-vols=
no-issue=1
article-no=
start-page=1
end-page=6
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2019
dt-pub=201902
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=The Role of Kallikrein-Related Peptidases in Atopic Dermatitis
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Excessive protease activity is a characteristic abnormality that affects the epidermal barrier in patients with atopic dermatitis (AD). Kallikrein-related peptidases (KLKs) are excessively expressed in AD lesions, and it is suggested that the abnormal action of KLKs is involved in the skin barrier dysfunction in AD. In other words, overexpressed KLKs disrupt the normal barrier function, and due to that breakdown, external substances that can become antigens of AD easily invade the epidermis, resulting in dermatitis, coupled with the induction of Th2 cytokines. Further investigations are required to elucidate the role of KLKs in AD; this knowledge could contribute to the design of new therapeutic and prophylactic drugs for AD.
en-copyright=
kn-copyright=

en-aut-name=MorizaneShin
en-aut-sei=Morizane
en-aut-mei=Shin
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

affil-num=1
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=atopic dermatitis
kn-keyword=atopic dermatitis
en-keyword=kallikrein-related peptidases
kn-keyword=kallikrein-related peptidases
en-keyword=epidermal barrier dysfunction
kn-keyword=epidermal barrier dysfunction
END

start-ver=1.4
cd-journal=joma
no-vol=72
cd-vols=
no-issue=3
article-no=
start-page=275
end-page=282
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2018
dt-pub=201806
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Analysis of All 34 Exons of the SPINK5 Gene in Japanese Atopic Dermatitis Patients
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Lympho-epithelial Kazal-type-related inhibitor (LEKTI) is a large multidomain serine protease inhibitor that is expressed in epidermal keratinocytes. Nonsense mutations of the SPINK5 gene, which codes for LEKTI, cause Netherton syndrome, which is characterized by hair abnormality, ichthyosis, and atopy. A single nucleotide polymorphism (SNP) of SPINK5, p.K420E, is reported to be associated with the pathogenesis of atopic dermatitis (AD). We studied all 34 exons of the SPINK5 gene in Japanese 57 AD patients and 50 normal healthy controls. We detected nine nonsynonymous variants, including p.K420E; these variants had already been registered in the SNP database. Among them, p.R654H (n=1) was found as a heterozygous mutation in the AD patients, but not in the control. No new mutation was detected. We next compared the data of the AD patients with data from the Human Genetic Variation Database provided by Kyoto University; a significant difference was found in the frequency of the p.S368N genotype distribution. PolyPhen-2 and SIFT, two algorithms for predicting the functional effects of amino acid substitutions, showed significant scores for p.R654H. Therefore, R654H might be a risk factor for epidermal barrier dysfunction in some Japanese AD patients.
en-copyright=
kn-copyright=

en-aut-name=MorizaneShin
en-aut-sei=Morizane
en-aut-mei=Shin
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=SunagawaKo
en-aut-sei=Sunagawa
en-aut-mei=Ko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=SugimotoSaeko
en-aut-sei=Sugimoto
en-aut-mei=Saeko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=KobashiMina
en-aut-sei=Kobashi
en-aut-mei=Mina
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=SugiharaSatoru
en-aut-sei=Sugihara
en-aut-mei=Satoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=NomuraHayato
en-aut-sei=Nomura
en-aut-mei=Hayato
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=TsujiKazuhide
en-aut-sei=Tsuji
en-aut-mei=Kazuhide
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=SatoAtsushi
en-aut-sei=Sato
en-aut-mei=Atsushi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=MiuraYoshihiro
en-aut-sei=Miura
en-aut-mei=Yoshihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=HattoriHiroaki
en-aut-sei=Hattori
en-aut-mei=Hiroaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=TadaKotaro
en-aut-sei=Tada
en-aut-mei=Kotaro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

en-aut-name=HuhWook-Kang
en-aut-sei=Huh
en-aut-mei=Wook-Kang
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=

en-aut-name=SenoAkemi
en-aut-sei=Seno
en-aut-mei=Akemi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=14
ORCID=

en-aut-name=IwatsukiKeiji
en-aut-sei=Iwatsuki
en-aut-mei=Keiji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=15
ORCID=

affil-num=1
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=2
en-affil=Department of Molecular Oncology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=3
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=4
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=5
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=6
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=7
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=

affil-num=8
en-affil=Nishigawara Dermatology Clinic
kn-affil=

affil-num=9
en-affil=Sato Dermatology Clinic
kn-affil=

affil-num=10
en-affil=Miura Dermatology Clinic
kn-affil=

affil-num=11
en-affil=Hattori Dermatology and Allergy Clinic
kn-affil=

affil-num=12
en-affil=Tada Dermatology Clinic
kn-affil=

affil-num=13
en-affil=Dr. Huh's Dermatology Clinic
kn-affil=

affil-num=14
en-affil=Department of Dermatology, Mitoyo General Hospital
kn-affil=

affil-num=15
en-affil=Department of Dermatology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
kn-affil=
en-keyword=atopic dermatitis
kn-keyword=atopic dermatitis
en-keyword=SPINK5
kn-keyword=SPINK5
en-keyword=LEKTI
kn-keyword=LEKTI
en-keyword=serine protease inhibitor
kn-keyword=serine protease inhibitor
en-keyword=epidermal barrier dysfunction
kn-keyword=epidermal barrier dysfunction
END

start-ver=1.4
cd-journal=joma
no-vol=293
cd-vols=
no-issue=4
article-no=
start-page=1
end-page=11
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2018
dt-pub=20180316
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=MexEF-OprN multidrug efflux pump transporter negatively controls N-acyl-homoserine lactone accumulation in pseudomonas syringae pv. Tabaci 6605
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract= Our previous studies revealed that flagellar-motility-defective mutants such as ?fliC of Pseudomonas syringae pv. tabaci 6605 (Pta6605) have remarkably reduced production of N-acyl-homoserine lactones (AHL), quorum-sensing molecules. To investigate the reason of loss of AHL production in ?fliC mutant, we carried out transposon mutagenesis. Among approximately 14,000 transconjugants, we found 11 AHL production-recovered (APR) strains. In these APR strains, a transposon was inserted into either mexE or mexF, genes encoding for the multidrug efflux pump transporter MexEF-OprN, and mexT, a gene encoding a putative transcriptional activator for mexEF-oprN. These results suggest that MexEF-OprN is a negative regulator of AHL production. To confirm the negative effect of MexEF-OprN on AHL production, loss- and gain-of-function experiments for mexEF-oprN were carried out. The ?fliC?mexF and ?fliC?mexT double mutant strains recovered AHL production, whereas the mexT overexpressing strain abolished AHL production, although the psyI, a gene encoding AHL synthase, is transcribed as wild type. Introduction of a mexF or mexT mutation into another flagellar-motility- and AHL production-defective mutant strain, ?motCD, also recovered the ability to produce AHL. Furthermore, introduction of the mexF mutation into other AHL production-defective mutant strains such as ?gacA and ?aefR also recovered AHL production but not to the ?psyI mutant. These results indicate that MexEF-OprN is a decisive negative determinant of AHL production and accumulation.
en-copyright=
kn-copyright=

en-aut-name=SawadaTakahiro
en-aut-sei=Sawada
en-aut-mei=Takahiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=EguchiMiho
en-aut-sei=Eguchi
en-aut-mei=Miho
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=AsakiSeiya
en-aut-sei=Asaki
en-aut-mei=Seiya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=KashiwagiRyota
en-aut-sei=Kashiwagi
en-aut-mei=Ryota
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=ShimomuraKousuke
en-aut-sei=Shimomura
en-aut-mei=Kousuke
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=TaguchiFumiko
en-aut-sei=Taguchi
en-aut-mei=Fumiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MatsuiHidenori
en-aut-sei=Matsui
en-aut-mei=Hidenori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=YamamotoMikihiro
en-aut-sei=Yamamoto
en-aut-mei=Mikihiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=NoutoshiYoshiteru
en-aut-sei=Noutoshi
en-aut-mei=Yoshiteru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=ToyodaKazuhiro
en-aut-sei=Toyoda
en-aut-mei=Kazuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=IchinoseYuki
en-aut-sei=Ichinose
en-aut-mei=Yuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

affil-num=1
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=

affil-num=2
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=

affil-num=3
en-affil=Faculty of AgricultureOkayama University
kn-affil=

affil-num=4
en-affil=Faculty of AgricultureOkayama University
kn-affil=

affil-num=5
en-affil=Faculty of AgricultureOkayama University
kn-affil=

affil-num=6
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=

affil-num=7
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=

affil-num=8
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=

affil-num=9
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=

affil-num=10
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=

affil-num=11
en-affil=Graduate School of Environmental and Life ScienceOkayama University
kn-affil=
en-keyword=Flagella motility
kn-keyword=Flagella motility
en-keyword=MexEF-OprN
kn-keyword=MexEF-OprN
en-keyword=Multidrug efflux pump transporter
kn-keyword=Multidrug efflux pump transporter
en-keyword=N-Acyl-homoserine lactone
kn-keyword=N-Acyl-homoserine lactone
en-keyword=Quorum sensing
kn-keyword=Quorum sensing
END

start-ver=1.4
cd-journal=joma
no-vol=129
cd-vols=
no-issue=2
article-no=
start-page=111
end-page=114
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2017
dt-pub=20170801
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Adenocarcinoma in the jejunum 20 years after surgery for familial adenomatous polyposis
kn-title=家族性大腸腺腫症術後20年後に小腸癌を発症した1例
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=A 58-year-old Japanese man visited a local clinic for the evaluation of a stomachache. He was diagnosed with intestinal obstruction. His medical history included a proctocolectomy at the age of 38 years, due to familial adenomatous polyposis (FAP). He was referred to our institution, where he underwent a computed tomography examination and endoscopy of the small intestine. The pathological diagnosis was adenocarcinoma. No invasive or metastatic lesions were observed. Therefore, partial resection of the ileum with lymphadenectomy and reconstruction of the ileostomy were performed. Pathological examination revealed that the tumor was type 2, pT3 (SS) , pN1, pPM0, pDM0, pRM0, INFb, ly1, v1, pEX0, PN0. Twenty-nine days after the surgery, the patient was diagnosed with lung metastasis and he underwent lung radiofrequency ablation. We suggest that long-term follow-up is necessary for patients after surgery for FAP, because of the risk of malignant disease developing in other organs.
en-copyright=
kn-copyright=

en-aut-name=SugiharaYuusaku
en-aut-sei=Sugihara
en-aut-mei=Yuusaku
kn-aut-name=杉原雄策
kn-aut-sei=杉原
kn-aut-mei=雄策
aut-affil-num=1
ORCID=

en-aut-name=KawanoSeiji
en-aut-sei=Kawano
en-aut-mei=Seiji
kn-aut-name=川野誠司
kn-aut-sei=川野
kn-aut-mei=誠司
aut-affil-num=2
ORCID=

en-aut-name=HaradaKeita
en-aut-sei=Harada
en-aut-mei=Keita
kn-aut-name=原田馨太
kn-aut-sei=原田
kn-aut-mei=馨太
aut-affil-num=3
ORCID=

en-aut-name=TakashimaShiho
en-aut-sei=Takashima
en-aut-mei=Shiho
kn-aut-name=高嶋志保
kn-aut-sei=高嶋
kn-aut-mei=志保
aut-affil-num=4
ORCID=

en-aut-name=TakeiDaisuke
en-aut-sei=Takei
en-aut-mei=Daisuke
kn-aut-name=竹井大介
kn-aut-sei=竹井
kn-aut-mei=大介
aut-affil-num=5
ORCID=

en-aut-name=InokuchiToshihiro
en-aut-sei=Inokuchi
en-aut-mei=Toshihiro
kn-aut-name=井口俊博
kn-aut-sei=井口
kn-aut-mei=俊博
aut-affil-num=6
ORCID=

en-aut-name=TakaharaMasahiro
en-aut-sei=Takahara
en-aut-mei=Masahiro
kn-aut-name=高原政宏
kn-aut-sei=高原
kn-aut-mei=政宏
aut-affil-num=7
ORCID=

en-aut-name=HiraokaSakiko
en-aut-sei=Hiraoka
en-aut-mei=Sakiko
kn-aut-name=平岡佐規子
kn-aut-sei=平岡
kn-aut-mei=佐規子
aut-affil-num=8
ORCID=

en-aut-name=MoriYoshiko
en-aut-sei=Mori
en-aut-mei=Yoshiko
kn-aut-name=母里淑子
kn-aut-sei=母里
kn-aut-mei=淑子
aut-affil-num=9
ORCID=

en-aut-name=KishimotoHiroyuki
en-aut-sei=Kishimoto
en-aut-mei=Hiroyuki
kn-aut-name=岸本浩行
kn-aut-sei=岸本
kn-aut-mei=浩行
aut-affil-num=10
ORCID=

en-aut-name=NagasakaTakeshi
en-aut-sei=Nagasaka
en-aut-mei=Takeshi
kn-aut-name=永坂岳司
kn-aut-sei=永坂
kn-aut-mei=岳司
aut-affil-num=11
ORCID=

en-aut-name=OkadaHiroyuki
en-aut-sei=Okada
en-aut-mei=Hiroyuki
kn-aut-name=岡田裕之
kn-aut-sei=岡田
kn-aut-mei=裕之
aut-affil-num=12
ORCID=

affil-num=1
en-affil=Department of Gastroenterology and Hepatology, Okayama University Hospital
kn-affil=岡山大学病院　消化器内科

affil-num=2
en-affil=Department of Gastroenterology and Hepatology, Okayama University Hospital
kn-affil=岡山大学病院　消化器内科

affil-num=3
en-affil=Department of Gastroenterological Surgery, Okayama University Hospital
kn-affil=岡山大学病院　光学医療診療部

affil-num=4
en-affil=Department of Gastroenterology and Hepatology, Okayama University Hospital
kn-affil=岡山大学病院　消化器内科

affil-num=5
en-affil=Department of Gastroenterological Surgery, Okayama University Hospital
kn-affil=岡山大学病院　光学医療診療部

affil-num=6
en-affil=Department of Gastroenterology and Hepatology, Okayama University Hospital
kn-affil=岡山大学病院　消化器内科

affil-num=7
en-affil=Department of Gastroenterology and Hepatology, Okayama University Hospital
kn-affil=岡山大学病院　消化器内科

affil-num=8
en-affil=Department of Gastroenterology and Hepatology, Okayama University Hospital
kn-affil=岡山大学病院　消化器内科

affil-num=9
en-affil=Division of Endoscopy, Okayama University Hospital
kn-affil=岡山大学病院　消化管外科

affil-num=10
en-affil=Division of Endoscopy, Okayama University Hospital
kn-affil=岡山大学病院　消化管外科

affil-num=11
en-affil=Division of Endoscopy, Okayama University Hospital
kn-affil=岡山大学病院　消化管外科

affil-num=12
en-affil=Department of Gastroenterology and Hepatology, Okayama University Hospital
kn-affil=岡山大学病院　消化器内科
en-keyword=家族性大腸腺腫症 (familial adenomatous polyposis)
kn-keyword=家族性大腸腺腫症 (familial adenomatous polyposis)
en-keyword=小腸癌 (jejunal cancer)
kn-keyword=小腸癌 (jejunal cancer)
en-keyword=小腸内視鏡検査 (small intestine endoscope)
kn-keyword=小腸内視鏡検査 (small intestine endoscope)
END

start-ver=1.4
cd-journal=joma
no-vol=127
cd-vols=
no-issue=2
article-no=
start-page=103
end-page=109
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2015
dt-pub=20150803
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Role of COLXV/XV�V gene, Multiplexin, as a basement membrane toolkit
kn-title=基底膜ツールキットとしてのXV/XV�V型コラーゲン遺伝子の機能
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=OohashiToshitaka
en-aut-sei=Oohashi
en-aut-mei=Toshitaka
kn-aut-name=大橋俊孝
kn-aut-sei=大橋
kn-aut-mei=俊孝
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科
en-keyword=基底膜
kn-keyword=基底膜
en-keyword=ツールキット
kn-keyword=ツールキット
en-keyword=XV/XV�V型コラーゲン
kn-keyword=XV/XV�V型コラーゲン
en-keyword=プロテオグリカン
kn-keyword=プロテオグリカン
en-keyword=ミトコンドリア
kn-keyword=ミトコンドリア
END

start-ver=1.4
cd-journal=joma
no-vol=126
cd-vols=
no-issue=3
article-no=
start-page=217
end-page=221
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2014
dt-pub=20141201
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Giant rectal gastrointestinal stromal tumor successfully resected by abdominoperineal resection combined with posterior vaginal wall resection
kn-title=膣後壁合併切除を伴う会陰アプローチが有用であった直腸巨大GISTの１切除例
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=We report a case of giant rectal gastrointestinal stromal tumor (GIST) successfully resected by abdominoperineal resection combined with posterior vaginal wall resection. Our patient was a 79-year-old woman had been diagnosed as having von Recklinghausen disease at the age of 30 years. In 2006, a computed tomography (CT) scan revealed a tumor originating from the posterior wall of the rectum. In June 2010, she was admitted to our hospital with the chief complaint of bloody stool. A CT scan revealed a giant tumor that had increased to 9cm in size. Colonoscopy demonstrated a submucosal tumor, which was subsequently diagnosed by biopsy as a GIST. Due to the patient's continuous bleeding and abdominal pain, an emergent abdominoperineal resection was performed at that time. The tumor, which measured 8×9cm, was immunohistochemically positive for c-kit and CD34. Concomitant resection of the posterior wall of the vagina via the perineal approach provided a wide area to expose the tumor for a safe operation. The patient has been well with no sign of recurrence since the operation. This procedure is recommended as a useful approach for giant rectal GISTs or rectal cancer with invasion of the posterior pelvic wall.
en-copyright=
kn-copyright=

en-aut-name=IwakawaKazuhide
en-aut-sei=Iwakawa
en-aut-mei=Kazuhide
kn-aut-name=岩川和秀
kn-aut-sei=岩川
kn-aut-mei=和秀
aut-affil-num=1
ORCID=

en-aut-name=NishieManabu
en-aut-sei=Nishie
en-aut-mei=Manabu
kn-aut-name=西江学
kn-aut-sei=西江
kn-aut-mei=学
aut-affil-num=2
ORCID=

en-aut-name=TokunagaNaoyuki
en-aut-sei=Tokunaga
en-aut-mei=Naoyuki
kn-aut-name=徳永尚之
kn-aut-sei=徳永
kn-aut-mei=尚之
aut-affil-num=3
ORCID=

en-aut-name=MiyasoHideaki
en-aut-sei=Miyaso
en-aut-mei=Hideaki
kn-aut-name=宮宗秀明
kn-aut-sei=宮宗
kn-aut-mei=秀明
aut-affil-num=4
ORCID=

en-aut-name=IwagakiHiromi
en-aut-sei=Iwagaki
en-aut-mei=Hiromi
kn-aut-name=岩垣博巳
kn-aut-sei=岩垣
kn-aut-mei=博巳
aut-affil-num=5
ORCID=

affil-num=1
en-affil=
kn-affil=国立病院機構福山医療センター　外科

affil-num=2
en-affil=
kn-affil=国立病院機構福山医療センター　外科

affil-num=3
en-affil=
kn-affil=国立病院機構福山医療センター　外科

affil-num=4
en-affil=
kn-affil=国立病院機構福山医療センター　外科

affil-num=5
en-affil=
kn-affil=国立病院機構福山医療センター　外科
en-keyword=巨大直腸GIST（giant rectal GIST）
kn-keyword=巨大直腸GIST（giant rectal GIST）
en-keyword=腹会陰式直腸切断術（abdominoperineal resection）
kn-keyword=腹会陰式直腸切断術（abdominoperineal resection）
END

start-ver=1.4
cd-journal=joma
no-vol=125
cd-vols=
no-issue=1
article-no=
start-page=47
end-page=50
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2013
dt-pub=20130401
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=A case of metastatic cecal cancer with mutation in the BRAF oncogene and poor survival
kn-title=予後不良な経過をたどったBRAF遺伝子変異を伴うStage �W大腸癌の１例
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=　A 79-year-old woman visited a previous hospital with a complaint of general fatigue. The patient was diagnosed with cecal cancer with multiple liver metastases and lymph node metastases on colonoscopy, abdominal ultrasonography and CT scan, and was referred to our division for treatment. Based on the diagnosis of non-curative colonic cancer, we planned to perform systematic chemotherapy after local surgical treatment. We performed an ileocecal resection, and the specimen showed poorly differentiated adenocarcinoma with mutation in the BRAF oncogene. After the surgical treatment, the tumor grew rapidly and the patient died from cancer on the 19th postoperative day without having the opportunity to undergo chemotherapy.
　Multiple genetic and epigenetic alterations in oncogenes and tumor suppressor genes are involved in the process of colorectal carcinogenesis. Some of the alterations have been identified as predictive and prognostic biomarkers. A mutation in the BRAF oncogene was reported to be associated with a very unfavorable prognosis in colorectal cancers. Some of the cases with rapid progression are suggested to have the BRAF oncogene mutation. According to our experience, chemotherapy before surgical treatment might improve the prognosis of cases with the BRAF mutation.
en-copyright=
kn-copyright=

en-aut-name=InadaRyo
en-aut-sei=Inada
en-aut-mei=Ryo
kn-aut-name=稲田涼
kn-aut-sei=稲田
kn-aut-mei=涼
aut-affil-num=1
ORCID=

en-aut-name=NagasakaTakeshi
en-aut-sei=Nagasaka
en-aut-mei=Takeshi
kn-aut-name=永坂岳司
kn-aut-sei=永坂
kn-aut-mei=岳司
aut-affil-num=2
ORCID=

en-aut-name=TakeharaKiyoto
en-aut-sei=Takehara
en-aut-mei=Kiyoto
kn-aut-name=竹原清人
kn-aut-sei=竹原
kn-aut-mei=清人
aut-affil-num=3
ORCID=

en-aut-name=SugiharaMasahiro
en-aut-sei=Sugihara
en-aut-mei=Masahiro
kn-aut-name=杉原正大
kn-aut-sei=杉原
kn-aut-mei=正大
aut-affil-num=4
ORCID=

en-aut-name=MoriYoshiko
en-aut-sei=Mori
en-aut-mei=Yoshiko
kn-aut-name=母里淑子
kn-aut-sei=母里
kn-aut-mei=淑子
aut-affil-num=5
ORCID=

en-aut-name=UmedaYuzo
en-aut-sei=Umeda
en-aut-mei=Yuzo
kn-aut-name=楳田祐三
kn-aut-sei=楳田
kn-aut-mei=祐三
aut-affil-num=6
ORCID=

en-aut-name=KubotaNobuhito
en-aut-sei=Kubota
en-aut-mei=Nobuhito
kn-aut-name=久保田暢人
kn-aut-sei=久保田
kn-aut-mei=暢人
aut-affil-num=7
ORCID=

en-aut-name=MorikawaTatsuya
en-aut-sei=Morikawa
en-aut-mei=Tatsuya
kn-aut-name=森川達也
kn-aut-sei=森川
kn-aut-mei=達也
aut-affil-num=8
ORCID=

en-aut-name=KondoYoshitaka
en-aut-sei=Kondo
en-aut-mei=Yoshitaka
kn-aut-name=近藤喜太
kn-aut-sei=近藤
kn-aut-mei=喜太
aut-affil-num=9
ORCID=

en-aut-name=UnoFutoshi
en-aut-sei=Uno
en-aut-mei=Futoshi
kn-aut-name=宇野太
kn-aut-sei=宇野
kn-aut-mei=太
aut-affil-num=10
ORCID=

en-aut-name=SadamoriYu
en-aut-sei=Sadamori
en-aut-mei=Yu
kn-aut-name=貞森裕
kn-aut-sei=貞森
kn-aut-mei=裕
aut-affil-num=11
ORCID=

en-aut-name=YagiTakahito
en-aut-sei=Yagi
en-aut-mei=Takahito
kn-aut-name=八木孝仁
kn-aut-sei=八木
kn-aut-mei=孝仁
aut-affil-num=12
ORCID=

en-aut-name=FujiwaraToshiyoshi
en-aut-sei=Fujiwara
en-aut-mei=Toshiyoshi
kn-aut-name=藤原俊義
kn-aut-sei=藤原
kn-aut-mei=俊義
aut-affil-num=13
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=2
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=3
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=4
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=5
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=6
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=7
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=8
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=9
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=10
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=11
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=12
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学

affil-num=13
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　消化器外科学
en-keyword=大腸癌（colorectal cancer）
kn-keyword=大腸癌（colorectal cancer）
en-keyword=BRAF変異（BRAF mutation）
kn-keyword=BRAF変異（BRAF mutation）
en-keyword=化学療法（chemotherapy）
kn-keyword=化学療法（chemotherapy）
en-keyword=分子標的薬（molecular target therapy）
kn-keyword=分子標的薬（molecular target therapy）
END

start-ver=1.4
cd-journal=joma
no-vol=67
cd-vols=
no-issue=1
article-no=
start-page=19
end-page=24
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2013
dt-pub=201302
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Silenced Expression of NFKBIA in Lung Adenocarcinoma Patients with a Never-smoking History
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Nuclear factor of κ-light polypeptide gene enhancer in B cells inhibitor α (NFKBIA), which is a tumor suppressor gene, was found to be silenced in lung adenocarcinomas. We examined NFKBIA expression, mutations in the EGFR and K-ras genes, and EML4-ALK fusion in 101 resected lung adenocarcinoma samples from never-smokers. NFKBIA expression was evaluated using immunohistochemistry. NFKBIA expression was negative in 16 of the 101 samples (15.8%). EGFR and K-ras mutations and EML4-ALK fusion were detected in 61 (60.5%), 1 (1.0%), and 2 (2.0%) of the 101 samples, respectively, in a completely mutually exclusive manner. Negative NFKBIA expression was observed significantly more frequently among the tumors with none of the three genetic alterations compared to those with such alterations (p＝0.009). In addition, negative NFKBIA expression was significantly more frequent among the EGFR-wild type samples compared to the EGFR-mutant samples (p＝0.013). In conclusion, NFKBIA expression was silenced in adenocarcinomas without EGFR/K-ras mutations or EML4-ALK fusion, suggesting that the silencing of NFKBIA may play an important role in the carcinogenesis of adenocarcinomas independent of EGFR/K-ras mutations or EML4-ALK fusion.
en-copyright=
kn-copyright=

en-aut-name=FurukawaMasashi
en-aut-sei=Furukawa
en-aut-mei=Masashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=SohJunichi
en-aut-sei=Soh
en-aut-mei=Junichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=YamamotoHiromasa
en-aut-sei=Yamamoto
en-aut-mei=Hiromasa
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=IchimuraKouichi
en-aut-sei=Ichimura
en-aut-mei=Kouichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=ShienKazuhiko
en-aut-sei=Shien
en-aut-mei=Kazuhiko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

en-aut-name=MakiYuho
en-aut-sei=Maki
en-aut-mei=Yuho
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=6
ORCID=

en-aut-name=MuraokaTakayuki
en-aut-sei=Muraoka
en-aut-mei=Takayuki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=7
ORCID=

en-aut-name=TanakaNorimitsu
en-aut-sei=Tanaka
en-aut-mei=Norimitsu
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=8
ORCID=

en-aut-name=UenoTsuyoshi
en-aut-sei=Ueno
en-aut-mei=Tsuyoshi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=9
ORCID=

en-aut-name=AsanoHiroaki
en-aut-sei=Asano
en-aut-mei=Hiroaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=TsukudaKazunori
en-aut-sei=Tsukuda
en-aut-mei=Kazunori
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=11
ORCID=

en-aut-name=ToyookaShinichi
en-aut-sei=Toyooka
en-aut-mei=Shinichi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=12
ORCID=

en-aut-name=MiyoshiShinichiro
en-aut-sei=Miyoshi
en-aut-mei=Shinichiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=13
ORCID=

affil-num=1
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=2
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=3
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=4
en-affil=
kn-affil=Department of Pathology, Okayama University Hospital

affil-num=5
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=6
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=7
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=8
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=9
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=10
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=11
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=12
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital

affil-num=13
en-affil=
kn-affil=Department of Thoracic Surgery, Okayama University Hospital
en-keyword=never-smoker
kn-keyword=never-smoker
en-keyword=lung cancer
kn-keyword=lung cancer
en-keyword=adenocarcinoma
kn-keyword=adenocarcinoma
en-keyword=nuclear factor of κ-light polypeptide gene enhancer in B cells inhibitor α
kn-keyword=nuclear factor of κ-light polypeptide gene enhancer in B cells inhibitor α
en-keyword=epidermal growth factor receptor
kn-keyword=epidermal growth factor receptor
END

start-ver=1.4
cd-journal=joma
no-vol=66
cd-vols=
no-issue=5
article-no=
start-page=369
end-page=376
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2012
dt-pub=201210
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Dravet Syndrome : A Genetic Epileptic Disorder
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Dravet syndrome (DS), or severe myoclonic epilepsy in infancy, is one of the most severe types of genetic epilepsy. It is characterized by the initial occurrence of febrile or afebrile seizures that often evolve into status epilepticus in infants with normal development, and by the subsequent appearance of myoclonic and/or atypical absence seizures as well as complex partial seizures. The key feature that characterizes DS is fever sensitivity, although photosensitivity and pattern-sensitivity are also often seen. The prognosis is unfavorable in most cases. Seizures become drug-resistant and persist, with many patients suffering from motor and cognitive impairment. Mutations of SCN1A, which encodes the voltage-gated sodium channel NaV1.1, are the most frequent genetic cause of this syndrome. SCN1A mutations and/or microchromosomal rearrangements involving SCN1A are detected in about 85% of patients. Mutations of PCDH19 have also been reported in female patients with clinical findings compatible with DS. PCDH19 mutations might account for 5% of overall DS cases. Thirty years after its first description, DS is considered as a model of channelopathy. This survey reviews recent developments in the research literature on DS, focusing on the clinical course, as well as its genetic causes.
en-copyright=
kn-copyright=

en-aut-name=AkiyamaMari
en-aut-sei=Akiyama
en-aut-mei=Mari
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=OhtsukaYoko
en-aut-sei=Ohtsuka
en-aut-mei=Yoko
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

affil-num=1
en-affil=
kn-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital

affil-num=2
en-affil=
kn-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital

affil-num=3
en-affil=
kn-affil=Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, and Okayama University Hospital
en-keyword=Dravet syndrome
kn-keyword=Dravet syndrome
en-keyword=long-term outcome
kn-keyword=long-term outcome
en-keyword=SCN1A
kn-keyword=SCN1A
en-keyword=PCDH19
kn-keyword=PCDH19
END

start-ver=1.4
cd-journal=joma
no-vol=66
cd-vols=
no-issue=2
article-no=
start-page=119
end-page=129
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2012
dt-pub=201204
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Different Responses to 5-fluoraouracil in Mutagenicity and Gene Expression between Two Human Lymphoblastoid Cell Lines with or without TP53 Mutation
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Human lymphoblastoid TK6 and WTK-1 cells are widely used to detect mutagens in vitro. TK6 cells have wild-type TP53 alleles, while WTK-1 cells have one allele of mutated TP53. Both cells were treated with 5-fluorouracil (5-FU), and gene mutation assay and micronucleus assay were performed to clarify the differential response related to the TP53 gene status. The effects of 5-FU on gene expression were assessed by microarray and quantitative RT-PCR analyses. In WTK-1 cells, 5-FU increased the frequency of cells with micronucleus and mutation. In TK6 cells, frequency of cells with micronucleus was increased but the mutation frequency was not. The cytotoxicity induced by 5-FU was more prominent in TK6 cells than in WTK-1 cells. Analysis of gene expression showed that the genes involved in the TP53 pathway were up-regulated in TK6 cells but not in WTK-1 cells. The differential
responses to 5-FU between these cell lines appeared to be due to the difference in the TP53 gene status, thus providing a molecular basis for the bioassays using these cell lines in the toxicology field. Our results indicate that the clinical efficacy of 5-FU chemotherapy may depend on the TP53 genotype.
en-copyright=
kn-copyright=

en-aut-name=OkaHiroaki
en-aut-sei=Oka
en-aut-mei=Hiroaki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=KondoTakuya
en-aut-sei=Kondo
en-aut-mei=Takuya
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

en-aut-name=MoritaFumio
en-aut-sei=Morita
en-aut-mei=Fumio
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=4
ORCID=

en-aut-name=ShimizuKenji
en-aut-sei=Shimizu
en-aut-mei=Kenji
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=5
ORCID=

affil-num=1
en-affil=
kn-affil=Tokushima Research Center, Taiho pharmaceutical Co., Ltd.

affil-num=2
en-affil=
kn-affil=Department of Molecular Genetics, Okayama University Graduate School of Medicine

affil-num=3
en-affil=
kn-affil=Tokushima Research Center, Taiho pharmaceutical Co., Ltd.

affil-num=4
en-affil=
kn-affil=Tokushima Research Center, Taiho pharmaceutical Co., Ltd.

affil-num=5
en-affil=
kn-affil=Department of Molecular Genetics, Okayama University Graduate School of Medicine
en-keyword=5-fluorouracil
kn-keyword=5-fluorouracil
en-keyword=TP53
kn-keyword=TP53
en-keyword=Tk mutation assays
kn-keyword=Tk mutation assays
en-keyword=microarray analysis
kn-keyword=microarray analysis
END

start-ver=1.4
cd-journal=joma
no-vol=124
cd-vols=
no-issue=1
article-no=
start-page=67
end-page=70
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2012
dt-pub=20120401
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Bisphosphonate treatment in osteogenesis imperfecta
kn-title=骨形成不全症の治療
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=TanakaHiroyuki
en-aut-sei=Tanaka
en-aut-mei=Hiroyuki
kn-aut-name=田中弘之
kn-aut-sei=田中
kn-aut-mei=弘之
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山済生会総合病院　小児科
en-keyword=ビスフォスフォネート
kn-keyword=ビスフォスフォネート
en-keyword=パミドロネート
kn-keyword=パミドロネート
en-keyword=ゾレドロネート
kn-keyword=ゾレドロネート
en-keyword=骨折
kn-keyword=骨折
en-keyword=コラーゲン
kn-keyword=コラーゲン
END

start-ver=1.4
cd-journal=joma
no-vol=123
cd-vols=
no-issue=2
article-no=
start-page=91
end-page=95
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2011
dt-pub=20110801
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=A long-term follow-up study of Dravet syndrome up to adulthood
kn-title=成人期に達したDravet症候群の長期経過に関する研究
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=AkiyamaMari
en-aut-sei=Akiyama
en-aut-mei=Mari
kn-aut-name=秋山麻里
kn-aut-sei=秋山
kn-aut-mei=麻里
aut-affil-num=1
ORCID=

en-aut-name=KobayashiKatsuhiro
en-aut-sei=Kobayashi
en-aut-mei=Katsuhiro
kn-aut-name=小林勝弘
kn-aut-sei=小林
kn-aut-mei=勝弘
aut-affil-num=2
ORCID=

en-aut-name=YoshinagaHarumi
en-aut-sei=Yoshinaga
en-aut-mei=Harumi
kn-aut-name=吉永治美
kn-aut-sei=吉永
kn-aut-mei=治美
aut-affil-num=3
ORCID=

en-aut-name=OhtsukaYoko
en-aut-sei=Ohtsuka
en-aut-mei=Yoko
kn-aut-name=大塚頌子
kn-aut-sei=大塚
kn-aut-mei=頌子
aut-affil-num=4
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　発達神経病態学

affil-num=2
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　発達神経病態学

affil-num=3
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　発達神経病態学

affil-num=4
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　発達神経病態学
en-keyword=Dravet症候群
kn-keyword=Dravet症候群
en-keyword=乳児重症ミオクロニーてんかん
kn-keyword=乳児重症ミオクロニーてんかん
en-keyword=予後
kn-keyword=予後
en-keyword=けいれん性てんかん重積状態
kn-keyword=けいれん性てんかん重積状態
END

start-ver=1.4
cd-journal=joma
no-vol=125
cd-vols=
no-issue=16
article-no=
start-page=3133
end-page=3141
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=1998
dt-pub=19988
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=The ich1 gene of the mushroom Coprinus cinereus is essential for pileus formation in fruiting
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=<p>The formation of the pileus in homobasidiomycete fungi is essential for sexual reproduction, because the pileus bears the hymenium, a layer of cells that includes the specialised basidia in which nuclear fusion, meiosis and sporulation occur. The developmental mutant ichijiku of Coprinus cinereus fails to develop a differentiated pileus at the apex of the primordial shaft, which is the basal part of the fruit-body primordia and formed in an early stage of fruit-body differentiation. Genetic analysis indicates that this phenotype is caused by a recessive mutation in a single gene (ich1). The ich1 gene was mapped to chromosome XII using restriction fragment length polymorphism markers and the marker chromosome method, and cloned by complementation using a chromosome-XII-specific cosmid library. The ich1 gene encodes a novel protein of 1,353 amino acids. The Ich1 amino-acid sequence contains nuclear targeting signals, suggesting that the Ich1 protein would function in the nucleus. Northern blot analysis indicates that the ich1 gene is specifically expressed in the pileus of the wild-type fruit-body. No ich1 mRNA was detected in the ichijiku mutant, consistent with loss of the promoter region of ich1 in the mutant genome. These data demonstrate that the ick1 gene product is essential for pileus formation.</p>

en-copyright=
kn-copyright=

en-aut-name=MuraguchiHajime
en-aut-sei=Muraguchi
en-aut-mei=Hajime
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=KamadaTakashi
en-aut-sei=Kamada
en-aut-mei=Takashi
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

affil-num=1
en-affil=
kn-affil=Okayama  University

affil-num=2
en-affil=
kn-affil=Okayama  University 
en-keyword=Developmental mutant
kn-keyword=Developmental mutant
en-keyword=Ich1
kn-keyword=Ich1
en-keyword=Pileus
kn-keyword=Pileus
en-keyword=Fruit-body
kn-keyword=Fruit-body
en-keyword=morphogenesis
kn-keyword=morphogenesis
en-keyword=Basidiomycete
kn-keyword=Basidiomycete
en-keyword=Coprinus
kn-keyword=Coprinus
END

start-ver=1.4
cd-journal=joma
no-vol=62
cd-vols=
no-issue=6
article-no=
start-page=345
end-page=361
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2008
dt-pub=200812
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=Mammalian Acatalasemia: The Perspectives of Bioinformatics and Genetic Toxicology
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=<p>The molecular defects in the catalase gene, levels of m-RNA and properties of the residual catalase studied by scientists are reviewed in human (Japanese, Swiss and Hungarian) and non-human (mouse and beagle dog) acatalasemia with reference to the bioinformatics. Japanese acatalasemia-I, the G to A transition at the fifth position of intron 4 of the catalase gene, limited the correct splicing of the mRNA and synthesized trace catalase with normal properties. Hungarian acatalasemia type C showed a splicing mutation. In the Japanese acatalasemia II and the type A and B of Hungarian acatalasemia, the deletion or insertion of nucleotides was observed in the coding regions, and the frame shift altered downstream amino acid sequences and formed truncated proteins. In the Hungarian acatalasemia D, the substitution of a nucleotide in the exon was found. In mouse and beagle dog acatalasemia, the substitution of nucleotides in the coding regions was also observed. Studies of residual catalase in Swiss, mouse and beagle dog acatalasemia showed that aberrant catalase protein degrades more quickly than normal catalase in cells. The experimental research in genetic toxicology concerning the effect of oxidative stressors (nitrogen monoxide, nitrogen dioxide and so on) on Japanese acatalasemic blood and acatalasemic mice is described. The clinical features of Japanese and Hungarian acatalasemic
subjects are also described.</p>
en-copyright=
kn-copyright=

en-aut-name=OgataMasana
en-aut-sei=Ogata
en-aut-mei=Masana
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=1
ORCID=

en-aut-name=WangDa-Hong
en-aut-sei=Wang
en-aut-mei=Da-Hong
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=2
ORCID=

en-aut-name=OginoKeiki
en-aut-sei=Ogino
en-aut-mei=Keiki
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=3
ORCID=

affil-num=1
en-affil=
kn-affil=Department of Public Health, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences

affil-num=2
en-affil=
kn-affil=Department of Public Health, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences

affil-num=3
en-affil=
kn-affil=Department of Public Health, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences
en-keyword=acatalasemia
kn-keyword=acatalasemia
en-keyword=catalase
kn-keyword=catalase
en-keyword=novel mutation
kn-keyword=novel mutation
en-keyword=bioinformatics
kn-keyword=bioinformatics
en-keyword=genetic toxicology
kn-keyword=genetic toxicology
END

start-ver=1.4
cd-journal=joma
no-vol=122
cd-vols=
no-issue=1
article-no=
start-page=9
end-page=16
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2010
dt-pub=20100401
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=The DNA damage sensors ataxia-telangiectasia mutated kinase and checkpoint kinase 2 are required for hepatitis C virus RNA replication
kn-title=DNA 損傷センサーATMキナーゼとChk2はＣ型肝炎ウイルスのRNA複製に必要である
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=AriumiYasuo
en-aut-sei=Ariumi
en-aut-mei=Yasuo
kn-aut-name=有海康雄
kn-aut-sei=有海
kn-aut-mei=康雄
aut-affil-num=1
ORCID=

en-aut-name=KurokiMisao
en-aut-sei=Kuroki
en-aut-mei=Misao
kn-aut-name=黒木美沙緒
kn-aut-sei=黒木
kn-aut-mei=美沙緒
aut-affil-num=2
ORCID=

en-aut-name=DansakoHiromichi
en-aut-sei=Dansako
en-aut-mei=Hiromichi
kn-aut-name=團迫浩方
kn-aut-sei=團迫
kn-aut-mei=浩方
aut-affil-num=3
ORCID=

en-aut-name=AbeKenichi
en-aut-sei=Abe
en-aut-mei=Kenichi
kn-aut-name=阿部健一
kn-aut-sei=阿部
kn-aut-mei=健一
aut-affil-num=4
ORCID=

en-aut-name=IkedaMasanori
en-aut-sei=Ikeda
en-aut-mei=Masanori
kn-aut-name=池田正徳
kn-aut-sei=池田
kn-aut-mei=正徳
aut-affil-num=5
ORCID=

en-aut-name=WakitaTakaji
en-aut-sei=Wakita
en-aut-mei=Takaji
kn-aut-name=脇田隆字
kn-aut-sei=脇田
kn-aut-mei=隆字
aut-affil-num=6
ORCID=

en-aut-name=KatoNobuyuki
en-aut-sei=Kato
en-aut-mei=Nobuyuki
kn-aut-name=加藤宣之
kn-aut-sei=加藤
kn-aut-mei=宣之
aut-affil-num=7
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍ウイルス学

affil-num=2
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍ウイルス学

affil-num=3
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍ウイルス学

affil-num=4
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍ウイルス学

affil-num=5
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍ウイルス学

affil-num=6
en-affil=
kn-affil=国立感染症研究所　ウイルス第二部

affil-num=7
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍ウイルス学
en-keyword=HCV
kn-keyword=HCV
en-keyword=ATM
kn-keyword=ATM
en-keyword=Chk2
kn-keyword=Chk2
en-keyword=宿主因子
kn-keyword=宿主因子
en-keyword=DNA 損傷センサー
kn-keyword=DNA 損傷センサー
END

start-ver=1.4
cd-journal=joma
no-vol=121
cd-vols=
no-issue=3
article-no=
start-page=149
end-page=156
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2009
dt-pub=20091201
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=A CACNB4 mutation showing altered Ca(v)2.1 function in a patient with Dravet syndrome
kn-title=Dravet 症候群患者に認められたカルシウムチャネル　機能異常を引き起こす CACNB4 遺伝子変異
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=OhmoriIori
en-aut-sei=Ohmori
en-aut-mei=Iori
kn-aut-name=大守伊織
kn-aut-sei=大守
kn-aut-mei=伊織
aut-affil-num=1
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=大内田守
kn-aut-sei=大内田
kn-aut-mei=守
aut-affil-num=2
ORCID=

en-aut-name=MimakiNobuyoshi
en-aut-sei=Mimaki
en-aut-mei=Nobuyoshi
kn-aut-name=御牧信義
kn-aut-sei=御牧
kn-aut-mei=信義
aut-affil-num=3
ORCID=

en-aut-name=NishikiTeiichi
en-aut-sei=Nishiki
en-aut-mei=Teiichi
kn-aut-name=西木禎一
kn-aut-sei=西木
kn-aut-mei=禎一
aut-affil-num=4
ORCID=

en-aut-name=TomizawaKazuhito
en-aut-sei=Tomizawa
en-aut-mei=Kazuhito
kn-aut-name=富澤一仁
kn-aut-sei=富澤
kn-aut-mei=一仁
aut-affil-num=5
ORCID=

en-aut-name=MatsuiHideki
en-aut-sei=Matsui
en-aut-mei=Hideki
kn-aut-name=松井秀樹
kn-aut-sei=松井
kn-aut-mei=秀樹
aut-affil-num=6
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　細胞生理学

affil-num=2
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　分子遺伝学

affil-num=3
en-affil=
kn-affil=倉敷成人病センター　小児科

affil-num=4
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　細胞生理学

affil-num=5
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　細胞生理学

affil-num=6
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　細胞生理学
en-keyword=てんかん
kn-keyword=てんかん
en-keyword=Dravet 症候群
kn-keyword=Dravet 症候群
en-keyword=CACNB4遺伝子
kn-keyword=CACNB4遺伝子
en-keyword=SCN1A 遺伝子
kn-keyword=SCN1A 遺伝子
END

start-ver=1.4
cd-journal=joma
no-vol=103
cd-vols=
no-issue=4
article-no=
start-page=235
end-page=246
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=1991
dt-pub=1991
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Importance of nonrandomly occurring spontaneous chromosome breakpoints in tumorigenesis of Fanconi anemia
kn-title=ファンコニー貧血に自然発生する特異的染色体切断点の悪性腫瘍発生における意義
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Individuals with Fanconi anemia (FA) are susceptible to acute non-lymphocytic leukemia (ANLL) or hepetocellular carcinoma. To clarify why FA is associated with a specific type of neoplasia, we performed cytogenetic studies on somatic cells established from 4 FA patients, two of whom developed acute myelocytic leukemia (AML). A hypersensitive response to mitomycin C (MMC) was obtained in two patients but non-sensitivity in two patients with AML. Analysis of spontaneous break-points showed that the frequency of breakage in the FA patients was 4 to 5 times higher than in normal controls. Significantly more breakpoints gathered on 1p11 or q11, 1q21, 1q32, 2p11, or q11, 3p14, 3q21, 5q15, 7p11 or q11, 8q22, 9q11-12, 9q13, 11q13, 11q23, 12q13, 12q24 and 17q21 bands. Furthermore, many chromosome rearrangements involving these breakpoints were observed. Most of the breakpoints specific to FA coincided with those seen in the rearrangements of ANLL reported so far. These findings suggest that the nonrandomness of spontaneous breakpoints plays an important role in the tumorigenesis of FA.
en-copyright=
kn-copyright=

en-aut-name=TsujiKazushiro
en-aut-sei=Tsuji
en-aut-mei=Kazushiro
kn-aut-name=辻一城
kn-aut-sei=辻
kn-aut-mei=一城
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学医学部小児科学教室
en-keyword=Fanconi amemia
kn-keyword=Fanconi amemia
en-keyword=chromosome breakage
kn-keyword=chromosome breakage
en-keyword=tumorigenesis
kn-keyword=tumorigenesis
en-keyword=acute non-lymphocytic leukemia
kn-keyword=acute non-lymphocytic leukemia
en-keyword=fragile site
kn-keyword=fragile site
END

start-ver=1.4
cd-journal=joma
no-vol=103
cd-vols=
no-issue=7-8
article-no=
start-page=973
end-page=981
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=1991
dt-pub=199108
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=The effect of quercetin on thermotolerance in NIH 3T3 cells : From a view point of cell survival
kn-title=NIH 3T3 細胞の温熱耐性に対するケルセチンの作用　第1編　細胞の生存率からみたケルセチンの作用
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=The inhibition of thermotolerance development by quercetin was examined in NIH 3T3 cells. The cytotoxicity of quercetin increased with the increase in the concentration (10,100μg/ml) and duration (12,48,72 hours) of treatment. The cell killing effect of heat was not enhanced by quercetin (10μg/ml) itself. Quercetin (10μg/ml) inhibited the proliferation of cells for about 72 hours. Quercetin (10μg/ml) delayed the development of thermotolerance, but did not decrease the degree of maximum thermotolerance. Quercetin (10μg/ml) exibited no effect on the decay of thermotolerance.
en-copyright=
kn-copyright=

en-aut-name=KurodaMasahiro
en-aut-sei=Kuroda
en-aut-mei=Masahiro
kn-aut-name=黒田昌宏
kn-aut-sei=黒田
kn-aut-mei=昌宏
aut-affil-num=1
ORCID=

en-aut-name=HirakiYoshio
en-aut-sei=Hiraki
en-aut-mei=Yoshio
kn-aut-name=平木祥夫
kn-aut-sei=平木
kn-aut-mei=祥夫
aut-affil-num=2
ORCID=

en-aut-name=KawasakiShouji
en-aut-sei=Kawasaki
en-aut-mei=Shouji
kn-aut-name=川崎祥二
kn-aut-sei=川崎
kn-aut-mei=祥二
aut-affil-num=3
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学医学部放射線医学教室

affil-num=2
en-affil=
kn-affil=岡山大学医学部放射線医学教室

affil-num=3
en-affil=
kn-affil=岡山大学医療技術短期大学部
en-keyword=ケルセチン
kn-keyword=ケルセチン
en-keyword=温熱耐性
kn-keyword=温熱耐性
en-keyword=温熱療法
kn-keyword=温熱療法
END

start-ver=1.4
cd-journal=joma
no-vol=106
cd-vols=
no-issue=3-4
article-no=
start-page=429
end-page=441
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=1994
dt-pub=1994
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Molecular analysis of chronic myelocytic leukemia and related diseases
kn-title=慢性骨髄性白血病並びに周辺疾患の分子生物学的解析
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Chronic myelocytic leukemia (CML) is cytogentically characterized by the Philadelphia chromosome (Ph(1)) resulting from a reciprocal translocation t(9;22)(q34;q11). The breakpoints on chromosome 22 are clustered within a limted region of 5.8 kilobase (kb), termed the breakpoint cluster region (bcr). Herein the bcr rearrangement was examined to clarify the relationship between CML and related diseases. By Southern blot analysis of DNA, the bcr rearrangements were recopnized (bcr(+)) in 52 of 54 standard Ph(1)-positive (Ph(1+)) CML and all 3 variant Ph(1+)CML［46, XX, t(9;22;13)(q34;q11;q22),46, XX, t89;22)(q21;q11) and 46, XX, t(9;22)(q34;q11),inv (9)(9q22;22q13)］. The site of breakpoint within bcr was not a prognostic factor in Ph(1+)CML. On the other hand bcr rearrangements were negative (bcr(−)) in 2 juvenile CML (JCML), 3 chronic neutrophilic leukemia (CNL), 9 chronic myelomonocytic leukemia (CMML), 8 polycythemia vera (PV), 15 essential thrombocythemia (ET) and 4 myelofibrosis (MF) patients. In 5 patients with Ph(1)-negative (Ph(1−)) CML/unclassifid chronic myeloproliferative disorders (UCMPD), 2 were bcr(+) and 3 were bcr(−), which strongly suggested the existence of Ph(1−)bcr(−)CML.
en-copyright=
kn-copyright=

en-aut-name=SekitoNoriko
en-aut-sei=Sekito
en-aut-mei=Noriko
kn-aut-name=関籐典子
kn-aut-sei=関籐
kn-aut-mei=典子
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学医学部第二内科学教室
en-keyword=chronic myelocytic leukemia
kn-keyword=chronic myelocytic leukemia
en-keyword=variant Ph(1) chromosome
kn-keyword=variant Ph(1) chromosome
en-keyword=Ph(1)-negative CML
kn-keyword=Ph(1)-negative CML
en-keyword=bcr rearrangement
kn-keyword=bcr rearrangement
en-keyword=unclassified shronic myeloproliferative disorders
kn-keyword=unclassified shronic myeloproliferative disorders
END

start-ver=1.4
cd-journal=joma
no-vol=106
cd-vols=
no-issue=1-2
article-no=
start-page=1
end-page=10
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=1994
dt-pub=199402
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=VNTR polymorphism in the 17th and 20th introns of the RB1 gene in Japanese and its application to genetic counseling in hereditary retinoblastoma
kn-title=日本人におけるRBI遺伝子第17および20番イントロン内VNTRの多型性の検討および遺伝性網膜芽細胞腫における遺伝相談への応用
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Risk estimation for siblings or offspring is important in genetic counseling of patients with hereditary retinoblastoma. The RB1 gene spans approximately 200 kb in length, containing 27 exons. The use of polymorphic markers within the RB1 gene will eliminate the need of laborious specification of a mutation. The present study determined types and frequencies of VNTR polymorphisms of the 17th and 20th introns of the RB1 gene in 50 unrelated Japanese, using PCR amplification. In the 17th intron VNTR, there were 4 alleles, which ranged from 1400 by to 1550 bp. The most common allele was 1400 bp with a frequency of 73%, and the hetetozygosity rate was 46%. In the 20th intron VNTR, there were at least 9 alleles, wihch ranged from 192 bp to 240 bp. The alleles were more evenly distributed than those of the 17th intron VNTR, and the heterozygosity rate was 64%. These VNTR polymorphisms were successfully applied to the prediction of retinoblastoma and to the determination of parental origin of a chromosome deletion in 3 families with hereditary retinoblastoma. Analysis of VNTR polymorphisms within the RB1 gene proves to be practical and efficient for risk estimation in hereditary retinoblastoma.
en-copyright=
kn-copyright=

en-aut-name=NinomiyaShinsuke
en-aut-sei=Ninomiya
en-aut-mei=Shinsuke
kn-aut-name=二宮伸介
kn-aut-sei=二宮
kn-aut-mei=伸介
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学医学部小児科学教室
en-keyword=網膜芽細胞腫
kn-keyword=網膜芽細胞腫
en-keyword=VNTR
kn-keyword=VNTR
en-keyword=多型
kn-keyword=多型
en-keyword=PCR
kn-keyword=PCR
en-keyword=遺伝相談
kn-keyword=遺伝相談
END

start-ver=1.4
cd-journal=joma
no-vol=114
cd-vols=
no-issue=3
article-no=
start-page=289
end-page=296
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2003
dt-pub=20030131
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Effect of phospholipase A(2) on proliferation of the primary cultured biliary epithelial cells from the extra-hepatic bile duct to rats using D-valine containing medium
kn-title=D-バリン培地法により選択的に初代培養したラット胆管上皮細胞に対する Phospholipase A(2) の細胞増殖促進効果の解析
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=We hypothesized that a high level of phospholipase A(2) (PLA(2)) in bile juice works as a growth factor of biliary epithelial cells and causes hyperplastic change of the bile duct in pancreaticobiliary maljunction. in order to examine this hypothesis, we established a primary culture system of biliary epithelial cells from the extra-hepatic bile duct of rats. We successfully excluded fibroblasts from the epithelial cells using D-valine-containing medium and the single-cell cloning method. The established cells exhibited the characteristic features of rat bile duct epithelial cells. They were stained with anti-cytokeratin antibody, a marker protein of epithelial cells, were positive with PAS stain, and possessed the architectures of microvilli, tonofilament fibers and desmosomes. The effect of PLA(2) on proliferation of these cells was then examined. We clearly demonstrated that PLA(2) at nano-molar concentration (50nM, 100nM), that is, equivalent to the level of PLA(2) in the bile juice of pancreaticobiliary maljunction cases, caused a significant enhancement of epithelial cell proliferation.
en-copyright=
kn-copyright=

en-aut-name=OguraKaoru
en-aut-sei=Ogura
en-aut-mei=Kaoru
kn-aut-name=小倉薫
kn-aut-sei=小倉
kn-aut-mei=薫
aut-affil-num=1
ORCID=

en-aut-name=WatanabeYasuhiro
en-aut-sei=Watanabe
en-aut-mei=Yasuhiro
kn-aut-name=渡辺泰宏
kn-aut-sei=渡辺
kn-aut-mei=泰宏
aut-affil-num=2
ORCID=

en-aut-name=HiramineChiharu
en-aut-sei=Hiramine
en-aut-mei=Chiharu
kn-aut-name=平峯千春
kn-aut-sei=平峯
kn-aut-mei=千春
aut-affil-num=3
ORCID=

en-aut-name=NakagawaToshitaka
en-aut-sei=Nakagawa
en-aut-mei=Toshitaka
kn-aut-name=中川利孝
kn-aut-sei=中川
kn-aut-mei=利孝
aut-affil-num=4
ORCID=

en-aut-name=TokiAkira
en-aut-sei=Toki
en-aut-mei=Akira
kn-aut-name=土岐彰
kn-aut-sei=土岐
kn-aut-mei=彰
aut-affil-num=5
ORCID=

en-aut-name=TokudaMasaaki
en-aut-sei=Tokuda
en-aut-mei=Masaaki
kn-aut-name=徳田雅明
kn-aut-sei=徳田
kn-aut-mei=雅明
aut-affil-num=6
ORCID=

affil-num=1
en-affil=
kn-affil=香川医科大学小児外科学

affil-num=2
en-affil=
kn-affil=香川医科大学小児外科学

affil-num=3
en-affil=
kn-affil=香川医科大学基礎看護学

affil-num=4
en-affil=
kn-affil=香川医科大学附属実験実習機器センター

affil-num=5
en-affil=
kn-affil=香川医科大学小児外科学

affil-num=6
en-affil=
kn-affil=香川医科大学生理学
en-keyword=膵・胆管合流異常
kn-keyword=膵・胆管合流異常
en-keyword=胆管上皮細胞
kn-keyword=胆管上皮細胞
en-keyword=D−バリン
kn-keyword=D−バリン
en-keyword=Phospholipase A(2)
kn-keyword=Phospholipase A(2)
en-keyword=細胞増殖
kn-keyword=細胞増殖
END

start-ver=1.4
cd-journal=joma
no-vol=114
cd-vols=
no-issue=3
article-no=
start-page=253
end-page=259
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2003
dt-pub=20030131
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=癌抑制遺伝子 ING ファミリーの構造と機能
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=GunduzMehmet
en-aut-sei=Gunduz
en-aut-mei=Mehmet
kn-aut-name=グンデウズメーメット
kn-aut-sei=グンデウズ
kn-aut-mei=メーメット
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学医歯学総合研究科　病態機構学講座，口腔病理病態学分野
en-keyword=ING 1
kn-keyword=ING 1
en-keyword=ING 3
kn-keyword=ING 3
en-keyword=ING ファミリー
kn-keyword=ING ファミリー
en-keyword=癌抑制遺伝子
kn-keyword=癌抑制遺伝子
en-keyword=LOH
kn-keyword=LOH
END

start-ver=1.4
cd-journal=joma
no-vol=118
cd-vols=
no-issue=1
article-no=
start-page=17
end-page=21
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2006
dt-pub=20060501
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=
kn-title=原発性肺高血圧症の病態形成における骨形成蛋白（BMP）�T型受容体の関与とその意義：肺動脈血管平滑筋細胞を用いた検討
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=武田昌也
kn-aut-sei=武田
kn-aut-mei=昌也
aut-affil-num=1
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=大塚文男
kn-aut-sei=大塚
kn-aut-mei=文男
aut-affil-num=2
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=中村一文
kn-aut-sei=中村
kn-aut-mei=一文
aut-affil-num=3
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=稲垣兼一
kn-aut-sei=稲垣
kn-aut-mei=兼一
aut-affil-num=4
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=鈴木二郎
kn-aut-sei=鈴木
kn-aut-mei=二郎
aut-affil-num=5
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=三浦大志
kn-aut-sei=三浦
kn-aut-mei=大志
aut-affil-num=6
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=藤尾栄起
kn-aut-sei=藤尾
kn-aut-mei=栄起
aut-affil-num=7
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=松原広己
kn-aut-sei=松原
kn-aut-mei=広己
aut-affil-num=8
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=伊達洋至
kn-aut-sei=伊達
kn-aut-mei=洋至
aut-affil-num=9
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=大江透
kn-aut-sei=大江
kn-aut-mei=透
aut-affil-num=10
ORCID=

en-aut-name=
en-aut-sei=
en-aut-mei=
kn-aut-name=槇野博史
kn-aut-sei=槇野
kn-aut-mei=博史
aut-affil-num=11
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腎・免疫・内分泌代謝内科学

affil-num=2
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腎・免疫・内分泌代謝内科学

affil-num=3
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　循環器内科学

affil-num=4
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腎・免疫・内分泌代謝内科学

affil-num=5
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腎・免疫・内分泌代謝内科学

affil-num=6
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　循環器内科学

affil-num=7
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　循環器内科学

affil-num=8
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　循環器内科学

affil-num=9
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍・胸部外科学

affil-num=10
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　循環器内科学

affil-num=11
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腎・免疫・内分泌代謝内科学
en-keyword=原発性肺高血圧症 (PPH)
kn-keyword=原発性肺高血圧症 (PPH)
en-keyword=骨形成蛋白 (BMP)
kn-keyword=骨形成蛋白 (BMP)
en-keyword=肺動脈血管平滑筋細胞
kn-keyword=肺動脈血管平滑筋細胞
en-keyword=TGF-β スーパーファミリー
kn-keyword=TGF-β スーパーファミリー
en-keyword=BMP IＢ型受容体 (ALK-6)
kn-keyword=BMP IＢ型受容体 (ALK-6)
END

start-ver=1.4
cd-journal=joma
no-vol=119
cd-vols=
no-issue=3
article-no=
start-page=229
end-page=234
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2008
dt-pub=20080104
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Adenoviral p53 gene therapy for lung cancer
kn-title=p53 遺伝子を発現するアデノウイルスベクターを用いた肺癌の遺伝子治療
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=To determine the feasibility, safety, humoral immune response, and biological activity of multiple intratumoral injections of Ad5CMV-p53, and to characterize the pharmacokinetics of Ad5CMV-p53 in patients with advanced non-small cell lung cancer (NSCLC). Fifteen patients with histologically confirmed NSCLC and p53 mutations were enrolled into this phase I trial. Nine patients received escalating dose levels of Ad5CMV-p53 (1 × 109 to 1 × 1011 plaque-forming units[PFU]) as monotherapy once every 4 weeks. Six patients were treated on a 28-day schedule with Ad5CMV-p53 in combination with intravenous administration of cisplatin (80 mg/m2). Patients were monitored for toxicity, vector distribution, antibody formation, and tumor response. Fifteen patients received a total of 63 intratumoral injections of Ad5CMV-p53 without dose-limiting toxicity. The most common treatment-related toxicity was a transient fever. Specific p53 transgene expression was detected using reverse-transcriptase polymerase chain reaction in biopsied tumor tissues throughout the period of treatment despite of the presence of neutralizing anti-adenovirus antibody. Distribution studies revealed that the vector was detected in the gargle and plasma, but rarely in the urine. Thirteen of 15 patients were assessable for efficacy; one patient had a partial response (squamous cell carcinoma at the carina), 10 patients had stable disease, with three lasting ?9 months, and 2 patients had progressive disease. Multiple courses of intratumoral Ad5CMV-p53 injection alone or in combination with intravenous administration of cisplatin were feasible and well tolerated in advanced NSCLC patients, and appeared to provide clinical benefit.
en-copyright=
kn-copyright=

en-aut-name=FujiwaraToshiyoshi
en-aut-sei=Fujiwara
en-aut-mei=Toshiyoshi
kn-aut-name=藤原俊義
kn-aut-sei=藤原
kn-aut-mei=俊義
aut-affil-num=1
ORCID=

en-aut-name=TanakaNoriaki
en-aut-sei=Tanaka
en-aut-mei=Noriaki
kn-aut-name=田中紀章
kn-aut-sei=田中
kn-aut-mei=紀章
aut-affil-num=2
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学医学部・歯学部附属病院 遺伝子・細胞治療センター

affil-num=2
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学
en-keyword=p53 遺伝子
kn-keyword=p53 遺伝子
en-keyword=アデノウイルスベクター (adenovirus vector)
kn-keyword=アデノウイルスベクター (adenovirus vector)
en-keyword=肺癌 (lung cancer)
kn-keyword=肺癌 (lung cancer)
en-keyword=臨床試験 (clinical trial)
kn-keyword=臨床試験 (clinical trial)
END

start-ver=1.4
cd-journal=joma
no-vol=119
cd-vols=
no-issue=2
article-no=
start-page=113
end-page=117
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2007
dt-pub=20070903
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Accumulating DNA methylation in background mucosa plays a role in esophageal squamous cell carcinogenesis
kn-title=食道扁平上皮癌の発癌過程におけるDNAメチル化の役割
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=IshiiTatsuhiro
en-aut-sei=Ishii
en-aut-mei=Tatsuhiro
kn-aut-name=石井龍宏
kn-aut-sei=石井
kn-aut-mei=龍宏
aut-affil-num=1
ORCID=

en-aut-name=MurakamiJun
en-aut-sei=Murakami
en-aut-mei=Jun
kn-aut-name=村上純
kn-aut-sei=村上
kn-aut-mei=純
aut-affil-num=2
ORCID=

en-aut-name=NotoharaKenji
en-aut-sei=Notohara
en-aut-mei=Kenji
kn-aut-name=能登原憲司
kn-aut-sei=能登原
kn-aut-mei=憲司
aut-affil-num=3
ORCID=

en-aut-name=SasamotoHiromi
en-aut-sei=Sasamoto
en-aut-mei=Hiromi
kn-aut-name=笹本博美
kn-aut-sei=笹本
kn-aut-mei=博美
aut-affil-num=4
ORCID=

en-aut-name=KambaraTakeshi
en-aut-sei=Kambara
en-aut-mei=Takeshi
kn-aut-name=神原健
kn-aut-sei=神原
kn-aut-mei=健
aut-affil-num=5
ORCID=

en-aut-name=ShirakawaYasuhiro
en-aut-sei=Shirakawa
en-aut-mei=Yasuhiro
kn-aut-name=白川靖博
kn-aut-sei=白川
kn-aut-mei=靖博
aut-affil-num=6
ORCID=

en-aut-name=NaomotoYoshio
en-aut-sei=Naomoto
en-aut-mei=Yoshio
kn-aut-name=猶本良夫
kn-aut-sei=猶本
kn-aut-mei=良夫
aut-affil-num=7
ORCID=

en-aut-name=OuchidaMamoru
en-aut-sei=Ouchida
en-aut-mei=Mamoru
kn-aut-name=大内田守
kn-aut-sei=大内田
kn-aut-mei=守
aut-affil-num=8
ORCID=

en-aut-name=ShimizuKenji
en-aut-sei=Shimizu
en-aut-mei=Kenji
kn-aut-name=清水憲二
kn-aut-sei=清水
kn-aut-mei=憲二
aut-affil-num=9
ORCID=

en-aut-name=JeremyR. Jass
en-aut-sei=Jeremy
en-aut-mei=R. Jass
kn-aut-name=
kn-aut-sei=
kn-aut-mei=
aut-affil-num=10
ORCID=

en-aut-name=MatsubaraNagahide
en-aut-sei=Matsubara
en-aut-mei=Nagahide
kn-aut-name=松原長秀
kn-aut-sei=松原
kn-aut-mei=長秀
aut-affil-num=11
ORCID=

en-aut-name=TanakaNoriaki
en-aut-sei=Tanaka
en-aut-mei=Noriaki
kn-aut-name=田中紀章
kn-aut-sei=田中
kn-aut-mei=紀章
aut-affil-num=12
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学

affil-num=2
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 歯科口腔放射線学

affil-num=3
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 病態探究医学

affil-num=4
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学

affil-num=5
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学

affil-num=6
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学

affil-num=7
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学

affil-num=8
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 分子遺伝学

affil-num=9
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 分子遺伝学

affil-num=10
en-affil=
kn-affil=Department of Pathology, McGill University

affil-num=11
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学

affil-num=12
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 消化器・腫瘍外科学
en-keyword=食道扁平上皮癌
kn-keyword=食道扁平上皮癌
en-keyword=プロモーターメチル化
kn-keyword=プロモーターメチル化
en-keyword=p53遺伝子変異
kn-keyword=p53遺伝子変異
END

start-ver=1.4
cd-journal=joma
no-vol=119
cd-vols=
no-issue=1
article-no=
start-page=49
end-page=55
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2007
dt-pub=20070501
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Mutations and SNPs of human cardiac sodium channel alpha subunit gene (SCN5A) in Japanese patients with Brugada syndrome
kn-title=日本人Brugada症候群患者における心筋ナトリウムチャネル遺伝子 (SCN5A) の変異と多型
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=Background: Brugada syndrome is an inherited arrhythmogenic disease characterized by right bundle branch block pattern and ST segment elevation, leading to the change of V1 to V3 on electrocardiogram, and an increased risk of sudden cardiac death resulting from ventricular fibrillation. The sodium channel alpha 5 subunit (SCN5A) gene encodes a cardiac voltage-dependent sodium channel, and SCN5A mutations have been reported in Brugada syndrome. However, single nucleotide polymorphisms (SNPs) and gene mutations have not been well investigated in Japanese patients with Brugada syndrome.
Methods and Results: The SCN5A gene was examined in 58 patients by using PCR and the ABI 3130xl sequencer, revealing 17 SNP patterns and 13 mutations. Of the 13 mutations, 8 were missense mutations (with amino acid change), 4 were silent mutations (without amino acid change), and one case was a mutation within the splicing junction. Six of the eight missense mutations were novel mutations. Interestingly, we detected an R1664H mutation, which was identified originally in long QT syndrome.
Conclusion: We found 13 mutations of the SCN5A gene in 58 patients with Brugada syndrome. The disease may be attributable to some of the mutations and SNPs.
en-copyright=
kn-copyright=

en-aut-name=MiuraDaiji
en-aut-sei=Miura
en-aut-mei=Daiji
kn-aut-name=三浦大志
kn-aut-sei=三浦
kn-aut-mei=大志
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科 循環器内科学
en-keyword=不整脈 (arrhythmia)
kn-keyword=不整脈 (arrhythmia)
en-keyword=Brugada症候群 (Brugada syndrome)
kn-keyword=Brugada症候群 (Brugada syndrome)
en-keyword=SCN5A (SCN5A)
kn-keyword=SCN5A (SCN5A)
en-keyword=変異 (mutation)
kn-keyword=変異 (mutation)
en-keyword=多型 (SNP)
kn-keyword=多型 (SNP)
END

start-ver=1.4
cd-journal=joma
no-vol=120
cd-vols=
no-issue=1
article-no=
start-page=7
end-page=11
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2008
dt-pub=20080501
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Mutational and epigenetic evidence for independent pathways for lung adenocarcinoma
kn-title=EGFR K-ras 遺伝子変異と DNA メチル化異常からみた肺腺癌の発癌機構
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=
en-copyright=
kn-copyright=

en-aut-name=ToyookaShinichi
en-aut-sei=Toyooka
en-aut-mei=Shinichi
kn-aut-name=豊岡伸一
kn-aut-sei=豊岡
kn-aut-mei=伸一
aut-affil-num=1
ORCID=

en-aut-name=DateHiroshi
en-aut-sei=Date
en-aut-mei=Hiroshi
kn-aut-name=伊達洋至
kn-aut-sei=伊達
kn-aut-mei=洋至
aut-affil-num=2
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学大学院医歯薬学総合研究科　腫瘍・胸部外科学

affil-num=2
en-affil=
kn-affil=京都大学大学院医学研究科　呼吸器外科
en-keyword=肺腺癌
kn-keyword=肺腺癌
en-keyword=EGFR
kn-keyword=EGFR
en-keyword=Kras
kn-keyword=Kras
en-keyword=methylation
kn-keyword=methylation
END

start-ver=1.4
cd-journal=joma
no-vol=
cd-vols=
no-issue=
article-no=
start-page=
end-page=
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=2007
dt-pub=20070323
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=変異FGFR３の恒常的リン酸化は先天性小人症の重要な因子でPLCγによるSTAT1の活性化を介して軟骨前駆細胞ATDC5のアポトーシスを誘導する
kn-title=Sustained phosphorylation of mutated FGFR3 is a crucial feature of genetic dwarfism and induces apoptosis in the ATDC5 chondrogenic cell line via PLCγ-activated STAT1
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=The most frequent type of rhizomelic dwarfism, achondroplasia (ACH), is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Mutations in FGFR3 result in skeletal dysplasias of variable severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II (TDII), and severe but survivable phenotypic effects in severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN). To explore the molecular mechanisms that result in the different phenotypes, we investigated the kinetics of mutated versions of FGFR3. First, we assayed the phosphorylation states of the mutated FGFR3s and found that the level of phosphorylation in TDI-FGFR3 was lower than in ACH-FGFR3, although the other mutants were phosphorylated according to phenotypic severity. Second, we analyzed the duration of the phosphorylation. TDI-FGFR3 was not highly phosphorylated under ligand-free conditions, but the peak phosphorylation levels of TDI-FGFR3 and ACH-FGFR3 were maintained for 30 min after stimulation with FGF-1. Moreover, ligand-dependent phosphorylation of TDI-FGFR3, but not ACH-FGFR3, lasted for more than 8 h after FGF-1 administration. The other mutant proteins showed sustained phosphorylation independent of ligand presence. Third, we investigated the intracellular localization of the mutant proteins. Immunofluorescence analysis showed accumulations of TDII-FGFR3, SADDAN-FGFR3, and a portion of TDI-FGFR3 in the endoplasmic reticulum (ER). Based on these data, we concluded that sustained phosphorylation of FGFR3 causes chondrodysplasia, and the phenotypic severity depends on the proportion of ER-localized mutant FGFR3. In FGFR3 signaling, the transcription factor, signal transducer and activator of transcription 1 (STAT1) inhibit proliferation and induce apoptosis of chondrocytes. Here we reveal that phospholipase C gamma (PLCgamma) mediates FGFR3-induced STAT1 activation. Both PLCgamma and STAT1 were activated by FGFR3 signaling, but a dominant-negative form of PLCgamma (DN-PLCgamma) remarkably reduced STAT1 phosphorylation. Apoptosis assays revealed that the constitutively active forms of FGFR3 (TDII-FGFR3) and STAT1 (STAT1-C) induce apoptosis of chondrogenic ATDC5 cells via caspase activity. DN-PLCgamma reduced the apoptosis of ATDC5 cells expressing TDII-FGFR3, but over-expression of both DN-PLCgamma and STAT1-C induced apoptosis. Therefore, we conclude that a PLCgamma-STAT1 pathway mediates apoptotic signaling by FGFR3.
en-copyright=
kn-copyright=

en-aut-name=HaradaDaisuke
en-aut-sei=Harada
en-aut-mei=Daisuke
kn-aut-name=原田大輔
kn-aut-sei=原田
kn-aut-mei=大輔
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学
en-keyword=FGFR3
kn-keyword=FGFR3
en-keyword=Skeletal dysplasia
kn-keyword=Skeletal dysplasia
en-keyword=Phosphorylation
kn-keyword=Phosphorylation
en-keyword=ER localization
kn-keyword=ER localization
en-keyword=STAT1
kn-keyword=STAT1
END

start-ver=1.4
cd-journal=joma
no-vol=2
cd-vols=
no-issue=1
article-no=
start-page=63
end-page=68
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=1994
dt-pub=1994
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=Genetic Analysis of Large Trichome in Barley Leaf Blade
kn-title=オオムギの葉の剛毛に関する遺伝子分析
en-subtitle=
kn-subtitle=
en-abstract=岡山大学資源生物科学研究所大麦系統保存施設が保有するオオムギのうち約2,300品種を対象として、葉身の表面に生じる毛（trichome）の変異体を検索した。1）2,300品種のうち9品種（0.4％）が葉身の表面に剛毛を生じた。2）通常の品種では毛茸の鈎状部分の長さが約10μmであるのに対して剛毛型の品種では約40μmであった。Pub遺伝子による長毛はこれよりはるかに長く、剛毛型とは明らかに異なった。3）剛毛型は優性の1遺伝子（Ltr,large trichome）に支配されており、連鎖分析の結果、第7染色体にLtr-s-fsの順に配列されることが明らかになった。
kn-abstract=The inheritance and linkage relationship of a new hairiness trait "large trichome" was investigated in barley. Although the size of large trichome is about four times that of normal one, the character can not be recognized with the naked eye. However, it is easily identified by the roughness of leaf touch. The large trichomes develop on both sides of the leaf blades. The direction of trichome is both acropetal and basipetal. It is clearly distinguished from the extremely long trichome controlled by Pub gene. About 2,300 varieties of our Barley Germplasm Center were screened by the leaf touch to find nine varieties with large trichome. Two of them were six-rowed local variety from Pakistan, and other seven were two-rowed varieties from Europe and Japan. All of them were hulled type. Crosses of six large trichome varieties with a normal Japanese variety resulted in the large trichome type F1s, suggesting the dominant nature of the trait. The large trichome line Hokuiku 17 was crossed with various linkage testres to study the mode of inheritance and the linkage relationship of the gene. In the F2 populations, the large trichome was controlled by a single dominant gene named Ltr (large trichome), which was independentiy inherited from the following marker genes; br and gl-5 on chromosome 1; li and ν on chromosome 2; uz on chromosome 3; K and gl-3 on chromosome 4; trd on chromosome 5; ο on chromosome 6. On the other hand, from the cross between Hokuiku 17 and OUL166, Ltr was found to be linked with s and fs on chromosome 7. Although the allelism test has not been completed, the very low frequency of the large trichome type (9/2,300) indicates that the variant resulted from a recent mutation event, or the fitness of the variant is low in the natural and/or artificial selection.
en-copyright=
kn-copyright=

en-aut-name=SatoKazuhiro
en-aut-sei=Sato
en-aut-mei=Kazuhiro
kn-aut-name=佐藤和広
kn-aut-sei=佐藤
kn-aut-mei=和広
aut-affil-num=1
ORCID=

en-aut-name=TakedaKazuyoshi
en-aut-sei=Takeda
en-aut-mei=Kazuyoshi
kn-aut-name=武田和義
kn-aut-sei=武田
kn-aut-mei=和義
aut-affil-num=2
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学

affil-num=2
en-affil=
kn-affil=岡山大学
en-keyword=Barley
kn-keyword=Barley
en-keyword=Trichome
kn-keyword=Trichome
en-keyword=Linkage analysis
kn-keyword=Linkage analysis
END

start-ver=1.4
cd-journal=joma
no-vol=38
cd-vols=
no-issue=1
article-no=
start-page=1
end-page=7
dt-received=
dt-revised=
dt-accepted=
dt-pub-year=1971
dt-pub=1971
dt-online=
en-article=
kn-article=
en-subject=
kn-subject=
en-title=ハッカ属植物の放射線育種に関する研究 (第12報)ハッカ交配種子の照射によって誘発された量的形質の変異
kn-title=Studies on the Radiation Breeding in the genus Mentha : (XII) Variation in Quantitative Characters of X2 plant after Hybridization and Irradiation in Mint
en-subtitle=
kn-subtitle=
en-abstract=
kn-abstract=The present paper describes some aspects of inducing genetic variation of polygenically controlled characters following the irradiation of two mint species and their hybrids. The data for the characters studied in X2 generations were analyzed by appropriate analysis of variance. In all the cases, the mean value of the irradiated population with respect to seed size character was almost the same as that of the non-irradiated control, while the variance of the irradiated population increased. On the other hand, for endosperm quality the irradiated populations showed increase in the mean value and the variance. The results obtained in the present experiment suggest that back-ground geno-types played an important role in the manifestation of mutated characters.
en-copyright=
kn-copyright=

en-aut-name=OnoSeiroku
en-aut-sei=Ono
en-aut-mei=Seiroku
kn-aut-name=小野清六
kn-aut-sei=小野
kn-aut-mei=清六
aut-affil-num=1
ORCID=

affil-num=1
en-affil=
kn-affil=岡山大学
en-keyword=ハッカ属植物
kn-keyword=ハッカ属植物
en-keyword=放射線育種
kn-keyword=放射線育種
en-keyword=交配種子
kn-keyword=交配種子
en-keyword=量的形質
kn-keyword=量的形質
END