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J-GLOBAL ID：201702217304602953   Reference number：17A0358890

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

エキソーム塩基配列決定により同定したモヤモヤ病の新候補遺伝子CCER2

Author (16)： Mukawa Maki (Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan) ,  Nariai Tadashi (Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan) ,  Onda Hideaki (Department of Neurosurgery, Tokyo Women’s Medical University, Tokyo, Japan) ,  Onda Hideaki (Department of Neurosurgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  Yoneyama Taku (Department of Neurosurgery, Tokyo Women’s Medical University, Tokyo, Japan) ,  Yoneyama Taku (Department of Neurosurgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  Aihara Yasuo (Department of Neurosurgery, Tokyo Women’s Medical University, Tokyo, Japan) ,  Hirota Kengo (Department of Neurosurgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  Kudo Takumi (Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan) ,  Sumita Kazutaka (Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan) ,  Maehara Taketoshi (Department of Neurosurgery, Tokyo Medical and Dental University, Tokyo, Japan) ,  Kawamata Takakazu (Department of Neurosurgery, Tokyo Women’s Medical University, Tokyo, Japan) ,  Kasuya Hidetoshi (Department of Neurosurgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  Kasuya Hidetoshi (Tokyo Women’s Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan) ,  Akagawa Hiroyuki (Department of Neurosurgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  Akagawa Hiroyuki (Tokyo Women’s Medical University Institute for Integrated Medical Sciences (TIIMS), Tokyo, Japan)
Material： Journal of Stroke & Cerebrovascular Diseases  (J Stroke Cerebrovasc Dis)
Volume： 26  Issue： 1  Page： 150-161  Publication year： Jan. 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： *brain protein ,...
Semi thesaurus term： *CCER2 ,...

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Author keywords (4)： CCER2 ,  exome sequencing ,  Moyamoya disease ,  susceptibility gene

JST classification (1)： Neurologic diagnosis  (GN02000H)

Reference (49)：

• Suzuki J, Takaku A. Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 1969;20:288-299.
• 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.
• 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.
• Miyatake S, Miyake N, Touho H, et al. Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease. Neurology 2012;78: 803-810.
• Kim EH, Yum MS, Ra YS, et al. Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease. J Neurosurg 2015;2:1-7.

Terms in the title (5)： エキソーム ,  塩基配列 ,  同定 ,  モヤモヤ病 ,  候補遺伝子