Art

J-GLOBAL ID：202102274966885309   Reference number：21A0349009

A loss-of-function NUAK2 mutation in humans causes anencephaly due to impaired Hippo-YAP signaling

Hippo-YAPシグナル伝達障害による無脳症を引き起こすヒトにおける機能喪失NUAK2突然変異【JST・京大機械翻訳】

Author (20)： Bonnard Carine (Human Genetics and Embryology Laboratory, Institute of Medical Biology, Agency for Science, Technology and Research, Singapore) ,  Navaratnam Naveenan (Medical Research Council London Institute of Medical Sciences, Imperial College London, Hammersmith Hospital, London, UK) ,  Ghosh Kakaly (Human Genetics and Embryology Laboratory, Institute of Medical Biology, Agency for Science, Technology and Research, Singapore) ,  Chan Puck Wee (Human Genetics and Embryology Laboratory, Institute of Medical Biology, Agency for Science, Technology and Research, Singapore) ,  Tan Thong Teck (Human Genetics and Embryology Laboratory, Institute of Medical Biology, Agency for Science, Technology and Research, Singapore) ,  Pomp Oz (Human Genetics and Embryology Laboratory, Institute of Medical Biology, Agency for Science, Technology and Research, Singapore) ,  Ng Alvin Yu Jin (Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore) ,  Tohari Sumanty (Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore) ,  Changede Rishita (Mechanobiology Institute, National University of Singapore, Singapore) ,  Carling David (Medical Research Council London Institute of Medical Sciences, Imperial College London, Hammersmith Hospital, London, UK) ,  Venkatesh Byrappa (Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore) ,  Venkatesh Byrappa (Department of Paediatrics, National University of Singapore, Singapore) ,  Altunoglu Umut (Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey) ,  Altunoglu Umut (Medical Genetics Department, Koc University School of Medicine, Istanbul, Turkey) ,  Kayserili Huelya (Medical Genetics Department, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey) ,  Kayserili Huelya (Medical Genetics Department, Koc University School of Medicine, Istanbul, Turkey) ,  Reversade Bruno (Human Genetics and Embryology Laboratory, Institute of Medical Biology, Agency for Science, Technology and Research, Singapore) ,  Reversade Bruno (Institute of Molecular and Cell Biology, Agency for Science, Technology and Research, Singapore) ,  Reversade Bruno (Department of Paediatrics, National University of Singapore, Singapore) ,  Reversade Bruno (Medical Genetics Department, Koc University School of Medicine, Istanbul, Turkey)
Material： Journal of Experimental Medicine  (J Exp Med)
Volume： 217  Issue： 12  Page： Null  Publication year： 2020 
JST Material Number： A0937B  ISSN： 0022-1007  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Failure of neural tube closure...

Register(free) or Log In to access     To see more with JDream III (charged).   {{ this.onShowAbsJLink("http://jdream3.com/lp/jglobal/index.html?docNo=21A0349009&from=J-GLOBAL&jstjournalNo=A0937B") }}

Thesaurus term： network ,  actomyosin ,  fetus ,  *mutation ,  embryogenesis ,  human(primates) ,  neural tube ,  cytoskeleton ,  experimental disease ,  *cellular signal transduction ,  in vitro experiment ,  pathogenesis ,  serine-threonine kinase
Semi thesaurus term： キナーゼ ,  エクソーム , 【Automatic Indexing@JST】

JST classification (2)： Development(=generation)and differentiation  (EJ16020W) ,  Enzyme in general  (EB09010D)

Reference (57)：

• Adzhubei. A method and server for predicting damaging missense mutations. Nat. Methods. 2010, 7, 248. doi:10.1038/nmeth0410-248
• Altschul. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 1997, 25, 3389. doi:10.1093/nar/25.17.3389
• Aragona. A mechanical checkpoint controls multicellular growth through YAP/TAZ regulation by actin-processing factors. Cell. 2013, 154, 1047. doi:10.1016/j.cell.2013.07.042
• Arnold. The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling. Bioinformatics. 2006, 22, 195. doi:10.1093/bioinformatics/bti770
• Bekri. Analysis of NUAK1 and NUAK2 expression during early chick development reveals specific patterns in the developing head. Int. J. Dev. Biol. 2014, 58, 379. doi:10.1387/ijdb.140024jt

Terms in the title (7)： Hippo ,  YAP ,  シグナル伝達 ,  障害 ,  無脳症 ,  ヒト ,  突然変異