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

Genes responsible for mental retardation complicating to Duchenne muscular dystrophy

Research Project

Project/Area Number 21390311
Research Category

Grant-in-Aid for Scientific Research (B)

Allocation TypeSingle-year Grants
Section一般
Research Field Pediatrics
Research InstitutionKobe Gakuin University (2011)
Kobe University (2009-2010)

Principal Investigator

MATSUO Masafumi  神戸学院大学, 総合リハビリテーション学部, 教授 (10157266)

Co-Investigator(Kenkyū-buntansha) TAKESHIMA Yasuhiro  神戸大学, 大学院・医学研究科, 特命教授 (40281141)
YAGI Mariko  神戸大学, 大学院・医学研究科, 特命教授 (60362787)
AWANO Hiroyuki  神戸大学, 大学院・医学研究科, 特命助教 (30437470)
Project Period (FY) 2009 – 2011
Project Status Completed (Fiscal Year 2011)
Budget Amount *help
¥18,200,000 (Direct Cost: ¥14,000,000、Indirect Cost: ¥4,200,000)
Fiscal Year 2011: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2010: ¥5,980,000 (Direct Cost: ¥4,600,000、Indirect Cost: ¥1,380,000)
Fiscal Year 2009: ¥10,530,000 (Direct Cost: ¥8,100,000、Indirect Cost: ¥2,430,000)
Keywordsジストロフィン / 精神発達遅滞 / Duchenne型筋ジストロフィー / 分子種
Research Abstract

DMD is characterized by high incidence of complication of mental retardation, although it is s progressive muscle wasting disease. Here, we have identified a new variant of R-dystrophin. In addition, a new transcript from the dystrophin gene was cloned.

Report

(4 results)
  • 2011 Annual Research Report   Final Research Report ( PDF )
  • 2010 Annual Research Report
  • 2009 Annual Research Report
  • Research Products

    (9 results)

All 2012 2010 2009 Other

All Journal Article (5 results) (of which Peer Reviewed: 3 results) Presentation (3 results) Remarks (1 results)

  • [Journal Article] Pathogenic orphan transduction created by a non-reference LINE-1retrotransposon2012

    • Author(s)
      Solyom S, Ewing AD, Hancks DC, Takeshima Y, Awano H, Matsuo M, Kazazian H Jr
    • Journal Title

      Hum. Mutat

      Volume: 33 Pages: 369-371

    • Related Report
      2011 Final Research Report
  • [Journal Article] athogenic orphan transduction created by a non-reference LINE-1 retrot ransposon2012

    • Author(s)
      Solyom S, Ewing AD, Hancks DC, Takeshima Y, Awano H, Matsuo M, Kazazian HH Jr
    • Journal Title

      Hum.Mutat

      Volume: 33 Pages: 369-371

    • Related Report
      2011 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Moleculaar chaaracterizatioon of the 5'-UUTR of retinnal dysstrophin reveals a cryptiic intron thaat reggulates transslational acttivity2010

    • Author(s)
      Kubokawa, I., Takeshima, Y., Ota, M., Enomoto, M., Okizuka, Y., Mori, T., Nishimura, N., Awano, H., Yagi, M., Matsuo, M
    • Journal Title

      Mol Vis

      Volume: 16 Pages: 2590-2597

    • Related Report
      2011 Final Research Report
  • [Journal Article] Molecular characterization of the 5'-UTR of retinal dystrophin reveals a cryptic intron that regulates translational activity2010

    • Author(s)
      Kubokawa, I., Takeshima, Y., Ota, M., Enomoto, M., Okizuka, Y., Mori, T., Nishimura, N., Awano, H., Yagi, M., Matsuo, M.
    • Journal Title

      Molecular vision

      Volume: 16 Pages: 2590-2597

    • Related Report
      2010 Annual Research Report
    • Peer Reviewed
  • [Journal Article] Insertion of the IL1RAPL1 gene into the duplication junction of the dystrophin gene2009

    • Author(s)
      Zhang Z., Matsuo, M., et al
    • Journal Title

      J Him Genet 54(8)

      Pages: 466-73

    • NAID

      10030731391

    • Related Report
      2009 Annual Research Report
    • Peer Reviewed
  • [Presentation] Genotype-phenotype correlation of the dystrophinopathy cases with small mutations in the dystrophin gene2010

    • Author(s)
      Awano H, Takeeshima Y, YaYagi M, Yamaauchi Y, MMalueka RGG, Dwianingssih EK, Maatsuo M
    • Organizer
      Pediatric Academic Societies. 2010 Annual Meeting
    • Place of Presentation
      Vancouver
    • Related Report
      2011 Final Research Report
  • [Presentation] Chemical treatment of muscular dystrophy that enhances skiping of the mutated exon in the dystrophin gene2010

    • Author(s)
      Nishida A, Kataoka N, Takeshima Y, Yagi M, Awano H, Ota M, Itoh K, Hagiwara M, Matsuo M
    • Organizer
      The American Society of Human Genetics60th Anual Meeting
    • Place of Presentation
      Washigton, DC
    • Related Report
      2011 Final Research Report
  • [Presentation] Evolutionary acquired alternative splicing in the 5'-UTR of retinal dystrophin transcript is a default pathway with weaker translational activity than nonspliced retina specific form

    • Author(s)
      Kubokawa I, Yagi M, Awano H, Ota M, Nishida A, Dwianingsih EK, Malueka RG, Takeshima Y, Matsuo M
    • Related Report
      2011 Final Research Report
  • [Remarks]

    • URL

      http://www.kobegakuin.ac.jp/general-information/soran/08_rehabilitation/matsuo.html

    • Related Report
      2011 Final Research Report

URL: 

Published: 2009-04-01   Modified: 2016-04-21  

Information User Guide FAQ News Terms of Use Attribution of KAKENHI

Powered by NII kakenhi