Art

J-GLOBAL ID：201702232095785440   Reference number：17A1813796

Differences in the Genotype Frequency of the RNF213 Variant in Patients with Familial Moyamoya Disease in Kyushu, Japan

日本の九州での家族性モヤモヤ病の患者におけるRNF213変異体の遺伝子型頻度の違い

Author (10)： TAKAMATSU Yuichiro (Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University) ,  TAKAMATSU Yuichiro (Department of Neurosurgery, Faculty of Medicine, Saga University) ,  HIGASHIMOTO Ken (Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University) ,  MAEDA Toshiyuki (Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University) ,  MAEDA Toshiyuki (Department of Pediatrics, Faculty of Medicine, Saga University) ,  KAWASHIMA Masatou (Department of Neurosurgery, Faculty of Medicine, Saga University) ,  MATSUO Muneaki (Department of Pediatrics, Faculty of Medicine, Saga University) ,  ABE Tatsuya (Department of Neurosurgery, Faculty of Medicine, Saga University) ,  MATSUSHIMA Toshio (Department of Neurosurgery, Faculty of Medicine, Saga University) ,  SOEJIMA Hidenobu (Division of Molecular Genetics & Epigenetics, Department of Biomolecular Sciences, Faculty of Medicine, Saga University)
Material： Neurologia Medico-Chirurgica  (神経外科)
Volume： 57  Issue： 11  Page： 607-611(J-STAGE)  Publication year： 2017 
JST Material Number： Z0762A  ISSN： 0470-8105  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： Kyushu District ,...
Semi thesaurus term： *RNF213 gene ,...

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Author keywords (5)： Moyamoya disease ,  RNF213 ,  p.R4810K ,  rs112735431 ,  pyrosequencing

JST classification (1)： Nervous system diseases  (GN03000O)

Reference (15)：

• 1) Takeuchi K, Shimizu K: [Hypoplasia of the bilateral internal carotid arteries]. Brain Nerve 9: 37-43, 1957 (Japanese)
• 2) Suzuki J, Takaku A: Cerebrovascular “moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 20: 288-299, 1969
• 3) Kamada F, Aoki Y, Narisawa A, et al.: A genome-wide association study identifies RNF213 as the first moyamoya disease gene. J Hum Genet 56: 34-40, 2011
• 4) 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 6: e22542, 2011
• 5) Shoemaker LD, Clark MJ, Patwardhan A, et al.: Disease variant landscape of a large multiethnic population of moyamoya patients by exome sequencing. G3 (Bethesda) 6: 41-49, 2016

Terms in the title (6)： 日本 ,  九州 ,  家族 ,  モヤモヤ病 ,  患者 ,  変異体