Exome sequencing of a pedigree segregating intracranial aneurysm

• 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
• Project Status: Completed (Fiscal Year 2012)
• Budget Amount: ¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000); Fiscal Year 2012: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000); Fiscal Year 2011: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
• Keywords: 脳動脈瘤 / 遺伝子 / rare variant / 感受性遺伝子 / エクソーム

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
• [Presentation] Analysis of neck locating of C2-C3 aneurysms with contrast-enhanced constructive interference in steady state magnetic resonance imaging using Leksell GammaPlan (2011)
  • Author(s): Taku Yoneyama, Motohiro Hayashi, Akitsugu Kawashima, Kohji Yamaguchi, Noriko Tamura, Takakazu Kawamata, Yoshikazu Okada
  • Organizer: 2011 American Association of Neurological Surgeons (AANS) 79th Annual Scientific Meeting
  • Place of Presentation: Denver, CO
• [Presentation] Confirmation of an association of TNFRSF13B sequence variants with intracranial aneurysms in Japanese patients (2011)
  • Author(s): Hiroyuki Akagawa, Taku Yoneyama, Hideaki Onda, Krischek Boris, Tsutomu Nishizawa, Hidetoshi Kasuya
  • Organizer: 2011 American Association of Neurological Surgeons (AANS) 79th Annual Scientific Meeting
  • Place of Presentation: Denver, CO
• [Presentation] Contrast-enhanced 3D CISS MR Imageを利用した内頚動脈C2-C3脳動脈瘤の頚部方向と位置の関係評価 (2011)
  • Author(s): 米山 琢、田村徳子、林 基弘、川島明次、山口浩司、川俣貴一、岡田芳和
  • Organizer: 第30回 The Mt.Fuji Workshop on CVD
  • Place of Presentation: 札幌