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J-GLOBAL ID：202002255567840438   Reference number：20A0188962

Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities

機能獲得型Mn1切断変異体は頭蓋顔面と脳の異常を伴う認識可能な症候群を引き起こす【JST・京大機械翻訳】

Author (25)： Miyake Noriko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Takahashi Hidehisa (Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Nakamura Kazuyuki (Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata 990-9585, Japan) ,  Isidor Bertrand (Service de Genetique Medicale, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France) ,  Hiraki Yoko (Hiroshima Municipal Center for Child Health and Development, Hiroshima 732-0052, Japan) ,  Koshimizu Eriko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Shiina Masaaki (Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan) ,  Sasaki Kazunori (Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Suzuki Hidefumi (Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Abe Ryota (Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Kimura Yayoi (Advanced Medical Research Center, Yokohama City University, Yokohama 236-0004, Japan) ,  Akiyama Tomoko (Advanced Medical Research Center, Yokohama City University, Yokohama 236-0004, Japan) ,  Tomizawa Shin-ichi (Department of Histology and Cell Biology, Yokohama City University School of Medicine, Yokohama 236-0004, Japan) ,  Hirose Tomonori (Department of Molecular Biology, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Hamanaka Kohei (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Miyatake Satoko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Miyatake Satoko (Clinical Genetics Department, Yokohama City University Hospital, Yokohama, 236-0004, Japan) ,  Mitsuhashi Satomi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Mizuguchi Takeshi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Takata Atsushi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Obo Kazuyuki (Department of Histology and Cell Biology, Yokohama City University School of Medicine, Yokohama 236-0004, Japan) ,  Kato Mitsuhiro (Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata 990-9585, Japan) ,  Kato Mitsuhiro (Department of Pediatrics, Showa University School of Medicine, Tokyo 142-8666, Japan) ,  Ogata Kazuhiro (Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, 236-0004, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan)
Material： American Journal of Human Genetics  (AJHG)
Volume： 106  Issue： 1  Page： 13-25  Publication year： 2020 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Article type： 原著論文  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： MN1 was originally identified ...

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Thesaurus term： phase separation ,  phenotype ,  in vitro experiment ,  *ubiquitin ,  protein ,  transcription factor ,  tumor suppressor gene ,  proteasome ,  cell proliferation ,  interaction ,  knockout mouse ,  aggregation ,  human(primates) ,  wild type
Semi thesaurus term： *頭蓋顔面 , 【Automatic Indexing@JST】

Author keywords (7)： MN1 ,  gain-of-function ,  craniofacial abnormalities ,  brain structural abnormalities ,  intrinsically disordered region ,  transcriptional regulation ,  phase separation

JST classification (5)： Genetic variation  (EC01030Y) ,  Structure and chemistry of genes  (EC02020U) ,  Basic neurology  (GN01020W) ,  Molecular genetics in general  (EC02010J) ,  Congenital diseases,deformities in general.  (GD03010V)

Terms in the title (5)： 獲得 ,  変異体 ,  頭蓋顔面 ,  脳 ,  症候群