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J-GLOBAL ID：201702238209960457   Reference number：17A0177547

Association of Rare Nonsynonymous Variants in PKD1 and PKD2 with Familial Intracranial Aneurysms in a Japanese Population

日本人集団におけるPKD1とPKD2のまれな非同義突然変異と家族性頭蓋内動脈瘤との関連

Author (11)： Hirota Kengo (Department of Neurosurgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  Hirota Kengo (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) ,  Onda Hideaki (Department of Neurosurgery, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan) ,  Onda Hideaki (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) ,  Yoneyama Taku (Department of Neurosurgery, Tokyo Women’s Medical 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)
Material： Journal of Stroke & Cerebrovascular Diseases  (J Stroke Cerebrovasc Dis)
Volume： 25  Issue： 12  Page： 2900-2906  Publication year： Dec. 2016 
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(sociology) ,...
Semi thesaurus term： *PKD1 gene ,...

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Author keywords (6)： Intracranial aneurysm ,  autosomal dominant polycystic kidney disease ,  PKD1 ,  PKD2 ,  susceptibility gene ,  rare variant

JST classification (2)： Nervous system diseases  (GN03000O) ,  Congenital diseases,deformities in general.  (GD03010V)

Reference (41)：

• Bilguvar, K., Yasuno, K., Niemelä, M. et al, Susceptibility loci for intracranial aneurysm in European and Japanese populations. Nat Genet. 2008;40:1472-1477.
• Yasuno, K., Bilguvar, K., Bijlenga, P. et al, Genome-wide association study of intracranial aneurysm identifies three new risk loci. Nat Genet. 2010;42:420-425.
• Lee, S., Kim, I.K., Ahn, J.S. et al, Deficiency of endothelium-specific transcription factor Sox17 induces intracranial aneurysm. Circulation. 2015;131:995-1005.
• Cornec-Le Gall, E., Audrézet, M.P., Meur, Y.L. et al, Genetics and pathogenesis of autosomal dominant polycystic kidney disease: 20 years on. Hum Mutat. 2014;35:1393-1406.
• Vlak, M.H., Algra, A., Brandenburg, R. et al, Prevalence of unruptured intracranial aneurysms, with emphasis on sex, age, comorbidity, country, and time period: a systematic review and meta-analysis. Lancet Neurol. 2011;10:626-636.

Terms in the title (6)： 日本人 ,  集団 ,  PKD2 ,  突然変異 ,  家族 ,  頭蓋内動脈瘤