Art

J-GLOBAL ID：201702221815240872   Reference number：17A1162018

Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome

ポリコーム抑制複合体2サブユニットをコードする遺伝子における変異は,Weaver症候群を引き起こす【Powered by NICT】

Author (19)： Imagawa Eri (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Higashimoto Ken (Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan) ,  Sakai Yasunari (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Numakura Chikahiko (Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan) ,  Okamoto Nobuhiko (Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Osaka, Japan) ,  Matsunaga Satoko (Department of Microbiology, Yokohama City University School of Medicine, Yokohama, Japan) ,  Ryo Akihide (Department of Microbiology, Yokohama City University School of Medicine, Yokohama, Japan) ,  Sato Yoshinori (Department of Molecular Biology, Yokohama City University School of Medicine, Yokohama, Japan) ,  Sanefuji Masafumi (Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan) ,  Ihara Kenji (Department of Pediatrics, Faculty of Medicine, Oita University, Yufu, Japan) ,  Takada Yui (Department of Pediatrics, Japanese Red Cross Fukuoka Hospital, Fukuoka, Japan) ,  Nishimura Gen (Department of Pediatric Imaging, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan) ,  Saitsu Hirotomo (Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan) ,  Mizuguchi Takeshi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Miyatake Satoko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Nakashima Mitsuko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Miyake Noriko (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan) ,  Soejima Hidenobu (Division of Molecular Genetics and Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University, Saga, Japan) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan)
Material： Human Mutation
Volume： 38  Issue： 6  Page： 637-648  Publication year： 2017 
JST Material Number： W2601A  ISSN： 1059-7794  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Weaver syndrome (WS) is a rare...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=17A1162018&from=J-GLOBAL&jstjournalNo=W2601A") }}

Thesaurus term： in vitro experiment ,  heterojunction ,  function analysis ,  *subunit ,  missense mutation ,  human ,  *gene ,  Exome ,  trimethylation ,  histone H3 ,  Histone Methyltransferases ,  EZH2 ,  *Polycomb Repressive Complex 2 ,  *Genetic Variation
Semi thesaurus term： *variation(biology) ,  *Weaver症候群 , 【Automatic Indexing@JST】

Author keywords (7)： EED ,  EZH2 ,  loss-of-function mutation ,  polycomb repressive complex 2 ,  SUZ12 ,  trimethylation of histone H3 at lysine 27 ,  Weaver syndrome

JST classification (2)： Gene expression  (EC02040Q) ,  Chemistry,biochemistry and pathology of tumors(=neoplasms)  (GE02030N)

Terms in the title (5)： ポリコーム抑制複合体2 ,  サブユニット ,  遺伝子 ,  変異 ,  Weaver症候群