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J-GLOBAL ID：201702255251211257   Reference number：17A0953583

RNF213 p.R4810K Variant and Intracranial Arterial Stenosis or Occlusion in Relatives of Patients with Moyamoya Disease

モヤモヤ病の患者の血縁者におけるRNF213 p.R4810K変異体と頭蓋内動脈狭窄または閉塞

Author (12)： Matsuda Yoshiko (Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Matsuda Yoshiko (Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Mineharu Yohei (Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Kimura Mitsuru (Department of Neurosurgery, Nishiwaki Municipal Hospital, Nishiwaki, Japan) ,  Takagi Yasushi (Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Kobayashi Hatasu (Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Hitomi Toshiaki (Department of Preventive Medicine, St. Marianna University School of Medicine, Kawasaki, Japan) ,  Harada Kouji H. (Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Uchihashi Yoshito (Department of Neurosurgery, Nishiwaki Municipal Hospital, Nishiwaki, Japan) ,  Funaki Takeshi (Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Miyamoto Susumu (Department of Neurosurgery, Kyoto University Graduate School of Medicine, Kyoto, Japan) ,  Koizumi Akio (Department of Health and Environmental Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan)
Material： Journal of Stroke & Cerebrovascular Diseases  (J Stroke Cerebrovasc Dis)
Volume： 26  Issue： 8  Page： 1841-1847  Publication year： Aug. 2017 
JST Material Number： W1420A  ISSN： 1052-3057  Document type： Article
Article type： 原著論文  Country of issue： United States (USA)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： *genetic variation ,...

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Author keywords (8)： RNF213 ,  Moyamoya disease ,  Susceptibility gene ,  Genetic diagnosis ,  Family ,  Screening ,  Intracranial ,  Arterial stenosis

JST classification (1)： Cardiovascular system diseases  (GJ03000C)

Reference (21)：

• Mineharu Y, Liu W, Inoue K, et al. Autosomal dominant moyamoya disease maps to chromosome 17q25.3. Neurology 2008;70:2357-2363.
• Yamauchi T, Tada M, Houkin K, et al. Linkage of familial moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 2000;31:930-935.
• Liu W, Morito D, Takashima S, et al. Identification of RNF213 as a susceptibility gene for moyamoya disease and its possible role in vascular development. PLoS ONE 2011;6:e22542.
• Kamada F, Aoki Y, Narisawa A, et al. A genome-wide association study identifies RNF213 as the first Moyamoya disease gene. J Hum Genet 2011;56:34-40.
• Wu Z, Jiang H, Zhang L, et al. Molecular analysis of RNF213 gene for moyamoya disease in the Chinese Han population. PLoS ONE 2012;7:e48179.

Terms in the title (6)： モヤモヤ病 ,  患者 ,  血縁 ,  変異体 ,  頭蓋内動脈狭窄 ,  閉塞