2012 Fiscal Year Final Research Report
Exome sequencing of a pedigree segregating intracranial aneurysm
Project/Area Number |
23791615
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Research Category |
Grant-in-Aid for Young Scientists (B)
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Allocation Type | Multi-year Fund |
Research Field |
Cerebral neurosurgery
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Research Institution | Tokyo Women's Medical University |
Principal Investigator |
YONEYAMA Taku 東京女子医科大学, 医学部, 助教 (90318105)
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Project Period (FY) |
2011 – 2012
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Keywords | 脳動脈瘤 / 遺伝子 / rare variant |
Research Abstract |
Whole-exome sequencing of a large IA pedigree and following case-control association study identified a susceptibility gene for IA. Transfection analysis showed that the mutant gene product obtained a trend to form dot-like aggregations in cytoplasm.
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[Journal Article] Analysis of TGFB1 in European and Japanese Moyamoya disease patients2012
Author(s)
Liu C, Roder C, Schulte C, Kasuya H, Akagawa H, Nishizawa T, Yoneyama T, Okada Y, Khan N, Tatagiba M, Berg D, Krischek B.
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Journal Title
Eur J Med Genet
Volume: 55(10)
Pages: 531-4
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