• Search Research Projects
  • Search Researchers
  • How to Use
  1. Back to previous page

The analysis of congenital DNA-repair abnormality with cerebellar degeneration

Research Project

Project/Area Number 20591220
Research Category

Grant-in-Aid for Scientific Research (C)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionGifu University

Principal Investigator

ORII Kenji  Gifu University, 医学部附属病院, 准教授 (30332688)

Project Period (FY) 2008 – 2010
Project Status Completed (Fiscal Year 2010)
Budget Amount *help
¥4,550,000 (Direct Cost: ¥3,500,000、Indirect Cost: ¥1,050,000)
Fiscal Year 2010: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2009: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥1,820,000 (Direct Cost: ¥1,400,000、Indirect Cost: ¥420,000)
Keywords小児神経学 / 小脳変性症 / 脳神経疾患 / 遺伝子 / 遺伝子修復 / 神経変性
Research Abstract

The signal transduction from complex of ATM, Mre11, and NBS1 are important for brain development during embryonic period. We searched the common target of protein complex of Rad50, Mre11 and NBS1. We tried to find the important proteins for brain development and cerebellar degeneration. We found several proteins which interact with Mre11-NBS1-Rad50 complex. We studied those protein function in the cells using overexpressing system, siRNA system and so on. We also found the binding sites which were important for interacting with the Mre11-NBS1-Rad50 complex. We used those data for protein structure analysis to understand about protein functions.

Report

(4 results)
  • 2010 Annual Research Report   Final Research Report ( PDF )
  • 2009 Annual Research Report
  • 2008 Annual Research Report
  • Research Products

    (9 results)

All 2010 2009 Other

All Journal Article (8 results) (of which Peer Reviewed: 4 results) Remarks (1 results)

  • [Journal Article] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.2010

    • Author(s)
      Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, Kenji E. Orii, Tsukasa Higuchi, Hideki Hoshino, Masaya Kubota, Hiroshi Arai, Tstsuzo Tagawa, Shigeru Kimura, Akira Sudo, Sahoko Miyama, Yuichi Takami, Toshihide Watanabe, Akira Nishimura, Kiyomi Nishimura, Noriko Miyake, Takahito Wada, Hitoshi Osaka, Naomi Kondo, Kiyoshi Hayasaka, Naomichi Matsumoto
    • Journal Title

      Epilepsia Vol.51

      Pages: 1528-1168

    • Related Report
      2010 Final Research Report
  • [Journal Article] Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy.2010

    • Author(s)
      Zenichiro Kato, Masahiro Morimoto, Kenji E, Orii, Tomomi Kato, Naomi Kondo
    • Journal Title

      Pediatric Radiology. Vol 40 supple

    • Related Report
      2010 Final Research Report
  • [Journal Article] STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.2010

    • Author(s)
      Hirotomo Saitsu, Mitsuhiro Kato, Ippei Okada, Kenji E. Orii, Tsukasa Higuchi, Hideki Hoshino, Masaya Kubota, Hiroshi Arai, Tstsuzo Tagawa, Shigeru Kimura, Akira Sudo, Sahoko Miyama, Yuichi Takami, Toshihide Watanabe, Akira Nishimura, Kiyomi Nishimura, Noriko Miyake, Takahito Wada, Hitoshi Osaka, Naomi Kondo, Kiyoshi Hayasaka, Naomichi Matsumoto
    • Journal Title

      Epilepsia

      Volume: Vol.51(12) Pages: 1528-1167

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy.2010

    • Author(s)
      Zenichiro Kato, Masahiri Morimoto, Kenji E, Orii, Tomomi Kato, Naomi Kondo
    • Journal Title

      Pediatric Radiology

      Volume: Vol.40 Suppl1

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency.2009

    • Author(s)
      Pierre-Olivier Frappart, Youngsoo Lee, Helen R Russell, Nader Chalhoub, Yong-Dong Wang, Kenji E.Orii Jingfeng Zhao, Naomi Kondo, Suzanne J.Baker, Peter J.McKinnon
    • Journal Title

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATE S OF AMERICA Vol 106

      Pages: 1880-1885

    • Related Report
      2010 Final Research Report
  • [Journal Article] Masahiro Shirakawa Structural basis for the multiple interactions of the Myd88 TIR domain in TLR4 signaling2009

    • Author(s)
      Hidenori Ohnishi, Hidehiko Tochio, Zenichiro Kato, Rend E.Orii, Ailian Li, Takeshi Kimura Hidekazu Hiroaki, Naomi Kondo
    • Journal Title

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA Vol 106

      Pages: 10260-10265

    • Related Report
      2010 Final Research Report
  • [Journal Article] Structural basis for the multiple interactions of the Myd88 TIR domain in TLR4 signaling2009

    • Author(s)
      Hidenori Ohnishi, Hidehiko Tochio, Zenichiro Kato, Kenji E.Orii, Ailian Li, Takeshi Kimura, Hidekazu Hiroaki, Naomi Kondo, Masahiro Shirakawa
    • Journal Title

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 106 25

      Pages: 10260-10265

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Recurrent genomic alterations characterize medulloblastoma arising from DNA double-strand break repair deficiency2009

    • Author(s)
      Frappart, Pierre-Olivier, et al.
    • Journal Title

      PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA 106, 6

      Pages: 1880-1885

    • Related Report
      2008 Annual Research Report
    • Peer Reviewed
  • [Remarks] ホームページ等

    • Related Report
      2010 Final Research Report

URL: 

Published: 2008-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi