Art

J-GLOBAL ID：201902266401536142   Reference number：19A2016048

Rare variants in RNF213, a susceptibility gene for moyamoya disease, are found in patients with pulmonary hypertension and aggravate hypoxia-induced pulmonary hypertension in mice

モヤモヤ病の感受性遺伝子RNF213における稀な変異体は肺高血圧症患者において発見され,マウスにおける低酸素誘発肺高血圧症を悪化させる【JST・京大機械翻訳】

Author (15)： Kobayashi Hatasu (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Kobayashi Hatasu (Department of Biomedical Sciences, College of Life and Health Sciences, Chubu University, Kasugai, Japan) ,  Kabata Risako (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Kinoshita Hideyuki (Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Morimoto Takaaki (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Morimoto Takaaki (Department of Neurosurgery, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Ono Koh (Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Takeda Midori (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Choi Jungmi (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Okuda Hiroko (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Liu Wanyang (Department of Nutrition and Food Hygiene, School of Public Health, China Medical University, Shenyang, People’s Republic of China) ,  Harada Kouji H. (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Kimura Takeshi (Department of Cardiovascular Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Youssefian Shohab (Laboratory of Molecular Biosciences, Graduate School of Medicine, Kyoto University, Kyoto, Japan) ,  Koizumi Akio (Department of Health and Environmental Science, Graduate School of Medicine, Kyoto University, Kyoto, Japan)
Material： Pulmonary Circulation
Volume： 8  Issue： 3  Page： 2045894018778155  Publication year： 2018 
JST Material Number： W5378A  ISSN： 2045-8932  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Abstract/Point： Ring finger 213 (RNF213) is a ...

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Thesaurus term： function analysis ,  vascular endothelial cell ,  wild type ,  *oxygen deficiency ,  transgenic mouse ,  endothelium ,  *moyamoya disease ,  clustering ,  *pulmonary hypertension ,  *variation(biology) ,  *human(primates) ,  *mouse(animal)
Semi thesaurus term： 過剰発現 ,  日本人 ,  ダイレクトシークエンス法 ,  *感受性遺伝子 , 【Automatic Indexing@JST】

Author keywords (6)： genetics ,  genomics ,  epigenetics ,  animal models ,  endothelium ,  caveolin-1

JST classification (2)： Cardiovascular system diseases  (GJ03000C) ,  Genetic variation  (EC01030Y)

Terms in the title (10)： モヤモヤ病 ,  感受性遺伝子 ,  変異体 ,  肺高血圧症 ,  患者 ,  発見 ,  マウス ,  低酸素 ,  誘発 ,  悪化