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2008 Fiscal Year Final Research Report

Mutation and polymorphism analyses of INSL3, LGR8/GREAT and SF-1 in patients with cryptorchidism

Research Project

  • PDF
Project/Area Number 19790248
Research Category

Grant-in-Aid for Young Scientists (B)

Allocation TypeSingle-year Grants
Research Field Human genetics
Research InstitutionNational Research Institute for Child Health and Development

Principal Investigator

WADA Yuka  National Research Institute for Child Health and Development, 小児思春期発育研究部, 共同研究員 (80399485)

Project Period (FY) 2007 – 2008
Keywords分子遺伝学 / 停留精巣 / 性分化異常症(DSD)
Research Abstract

INSL3の多型であるAla24Ala (72G>A)とSF-1 (Steroidogenic factor-1)の多型であるGly146Alaは停留精巣に劣性効果をもたらしていることが判明した。

  • Research Products

    (7 results)

All 2008

All Journal Article (3 results) (of which Peer Reviewed: 3 results) Presentation (4 results)

  • [Journal Article] MAMLD1 (CXorf6) is a new genge for Hypospadias2008

    • Author(s)
      Ogata T, Fukami M, Wada Y
    • Journal Title

      Clin Pediatr Endocrinol 17(4)

      Pages: 87-93

    • Peer Reviewed
  • [Journal Article] Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with Campomelic dysplasia or Acampomelic dysplasia2008

    • Author(s)
      Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T
    • Journal Title

      Am J Med Genet (In press)

    • Peer Reviewed
  • [Journal Article] MAMLD1(CXorf6): A new gene for hypospadias2008

    • Author(s)
      Wada Y, Fukami M, Ogata T
    • Journal Title

      生殖内分泌学会雑誌 13

      Pages: 37-43

    • Peer Reviewed
  • [Presentation] Haplotype analysis of the estrogen receptor a gene in male genital and reproductive abnormalities2008

    • Author(s)
      T, Fukami M, Wada Y, Yoshida R, Watanabe M
    • Organizer
      In: The Royan International Twin Congress (The 9th Congress on Reproductive Biomedicine and The 4th Congress on Stem Cell Biology and Technology)
    • Place of Presentation
      Tehran
    • Year and Date
      20080827-29
  • [Presentation] Cxorf6(MAMALD1) is a causative gene for hypospadias2008

    • Author(s)
      和田友香、深見真紀、宮林加奈子、西野一三、長谷川奉延、山田源、諸橋憲一郎、緒方勤
    • Organizer
      アンドロロジー学会
    • Place of Presentation
      京都
    • Year and Date
      20080700
  • [Presentation] Campomelic dysplasiaとacampomelic campomelic dysplasia 8症例におけるSOX9変異解析とCNV解析2008

    • Author(s)
      和田友香、澤井英明、吉形真由美、宮河真一郎、埴田卓志、佐藤清二、長谷川奉延、永井敏郎、山本俊平、西村玄、緒方勤
    • Organizer
      第53回日本人類遺伝学会
    • Year and Date
      20080000
  • [Presentation] Campomelic dysplasaiaとcampomelic campomelic dysplasia患者14例におけるSOX9変異の有無と臨床像の関連性2008

    • Author(s)
      和田友香、山澤一樹、鏡雅代、吉形真由美、埴田卓志、宮河真一郎
    • Organizer
      日本周産期学会
    • Place of Presentation
      横浜
    • Year and Date
      2008-07-14

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Published: 2010-06-10   Modified: 2016-04-21  

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