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J-GLOBAL ID：201902271164831034   Reference number：19A1388378

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

生殖系列活性化RRAS2変異はNoonan症候群を引き起こす【JST・京大機械翻訳】

Author (20)： Niihori Tetsuya (Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan) ,  Niihori Tetsuya (Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA) ,  Nagai Koki (Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan) ,  Fujita Atsushi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Ohashi Hirofumi (Division of Medical Genetics, Saitama Children’s Medical Center, Saitama 330-8777, Japan) ,  Okamoto Nobuhiko (Department of Medical Genetics, Osaka Women’s and Children’s Hospital, Osaka 594-1101, Japan) ,  Okada Satoshi (Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima 734-8551, Japan) ,  Harada Atsuko (Department of Pediatric Neurosurgery, Takatsuki General Hospital, Osaka 569-1192, Japan) ,  Kihara Hirotaka (Department of Pediatrics, Onomichi General Hospital, Hiroshima 722-8508, Japan) ,  Arbogast Thomas (Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA) ,  Funayama Ryo (Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan) ,  Shirota Matsuyuki (Division of Interdisciplinary Medical Sciences, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan) ,  Nakayama Keiko (Department of Cell Proliferation, United Center for Advanced Research and Translational Medicine, Tohoku University Graduate School of Medicine, Sendai 980-8575, Japan) ,  Abe Taiki (Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan) ,  Inoue Shin-ichi (Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan) ,  Tsai I-Chun (Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA) ,  Matsumoto Naomichi (Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan) ,  Davis Erica E. (Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA) ,  Katsanis Nicholas (Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA) ,  Aoki Yoko (Department of Medical Genetics, Tohoku University School of Medicine, Sendai 980-8574, Japan)
Material： American Journal of Human Genetics  (AJHG)
Volume： 104  Issue： 6  Page： 1233-1240  Publication year： 2019 
JST Material Number： B0360B  ISSN： 0002-9297  Document type： Article
Article type： 短報  Country of issue： Netherlands (NLD)  Language： ENGLISH (EN)

Abstract/Point： Noonan syndrome (NS) is charac...

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Thesaurus term： allele ,  mRNA ,  heredity ,  in vitro experiment ,  modeling ,  mutation ,  phenotype ,  protooncogene ,  Danio rerio ,  wild type ,  larva of arthropoda ,  *variation(biology)
Semi thesaurus term： 過剰発現 ,  Erk1/2 ,  頭蓋顔面 ,  *生殖系列 , 【Automatic Indexing@JST】

Author keywords (8)： Noonan syndrome ,  RRAS2 ,  RASopathies ,  exome sequencing ,  macrocephaly ,  zebrafish ,  functional profiling ,  RAS/MAPK

JST classification (2)： Congenital diseases,deformities in general.  (GD03010V) ,  Molecular genetics in general  (EC02010J)

Terms in the title (4)： 生殖系列 ,  活性化 ,  変異 ,  Noonan症候群