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J-GLOBAL ID：201902249524314365   Reference number：19A2817182

Clonal Expansion of Second-Hit Cells with Somatic Recombinations or C>T Transitions Form Porokeratosis in MVD or MVK Mutant Heterozygotes

体細胞組換えまたはC>T遷移を伴う第2ヒット細胞のクローン拡大はMVDまたはMvk変異ヘテロ接合体における汗孔角化症を形成する【JST・京大機械翻訳】

Author (20)： Kubo Akiharu (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Kubo Akiharu (Keio-Maruho Laboratory of Skin Barriology, Keio University School of Medicine, Tokyo, Japan) ,  Sasaki Takashi (Center for Supercentenarian Medical Research, Keio University School of Medicine, Tokyo, Japan) ,  Suzuki Hisato (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Shiohama Aiko (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Shiohama Aiko (KOSE Endowed Program for Skin Care and Allergy Prevention, Keio University School of Medicine, Tokyo, Japan) ,  Aoki Satomi (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Sato Showbu (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Fujita Harumi (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Fujita Harumi (KOSE Endowed Program for Skin Care and Allergy Prevention, Keio University School of Medicine, Tokyo, Japan) ,  Ono Noriko (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Umegaki-Arao Noriko (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Kawai Tomoko (Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan) ,  Nakabayashi Kazuhiko (Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan) ,  Hata Kenichiro (Department of Maternal-Fetal Biology, National Center for Child Health and Development, Tokyo, Japan) ,  Yamada Daisuke (Department of Dermatology, University of Tokyo Graduate School of Medicine, Tokyo, Japan) ,  Matsubara Yoichi (National Center for Child Health and Development, Tokyo, Japan) ,  Kosaki Kenjiro (Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan) ,  Amagai Masayuki (Department of Dermatology, Keio University School of Medicine, Tokyo, Japan) ,  Amagai Masayuki (Keio-Maruho Laboratory of Skin Barriology, Keio University School of Medicine, Tokyo, Japan)
Material： Journal of Investigative Dermatology  (J Invest Dermatol)
Volume： 139  Issue： 12  Page： 2458-2466.e9  Publication year： 2019 
JST Material Number： H0776A  ISSN： 0022-202X  CODEN： JIDEAE  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Patients with disseminated sup...

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Thesaurus term： wild type ,  tumorigenesis ,  allele ,  *clone ,  heredity ,  mutation ,  keratinocyte ,  gene deficiency ,  *keratosis ,  skin disorder ,  enzyme ,  epithelium ,  homologous recombination ,  gene ,  *somatic cell

JST classification (2)： Skin diseases  (GF03000Q) ,  Integument in general  (EJ11010C)

Terms in the title (8)： 遷移 ,  細胞 ,  クローン ,  拡大 ,  MVD ,  変異 ,  ヘテロ接合体 ,  汗孔角化症