Exome sequencing of a pedigree segregating intracranial aneurysm

2012 Fiscal Year Final Research Report

• Project/Area Number: 23791615
• Research Category: Grant-in-Aid for Young Scientists (B)
• Allocation Type: Multi-year Fund
• Research Field: Cerebral neurosurgery
• 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)
• Project Period (FY): 2011 – 2012
• 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.

Research Products

• [Journal Article] Analysis of TGFB1 in European and Japanese Moyamoya disease patients (2012)
  • 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.
  • Journal Title: Eur J Med Genet Volume: 55(10) Pages: 531-4
• [Journal Article] Technical options for the surgical management of extracranialcarotid artery aneurysms. Three case reports. (2012)
  • Author(s): Yoneyama T, Kawashima A, Sugiura M, Yamaguchi K, Itou K, Namioka A, KawamataT, Kubo O, Okada Y
  • Journal Title: Neurol Med Chir Volume: 52(4) Pages: 208-12
• [Presentation] Confirmation of an association of TNFRSF13B sequence variants with intracranial aneurysms in Japanese patients (2011)
  • Author(s): Hiroyuki Akagawa, Taku Yoneyama, Hideaki Onda, Boris Krischek, Tsutomu Nishizawa, Hidetoshi Kasuya
  • Organizer: 2011 AANS 79th Annual Scientific Meeting
  • Place of Presentation: Colorado Convention Center, Denver, Colorado
  • Year and Date: 20110409-13