Mutation and polymorphism analyses of INSL3, LGR8/GREAT and SF-1 in patients with cryptorchidism
| Project/Area Number |
19790248
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Single-year Grants |
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| Research Field |
Human genetics
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| Research Institution | National Research Institute for Child Health and Development |
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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)
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| Project Period (FY) |
2007 – 2008
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| Project Status |
Completed (Fiscal Year 2008)
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| Budget Amount *help |
¥3,100,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥300,000)
Fiscal Year 2008: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2007: ¥1,800,000 (Direct Cost: ¥1,800,000)
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| Keywords | 分子遺伝学 / 停留精巣 / 性分化異常症(DSD) |
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| 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。
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Report
(3 results)
Research Products
(14 results)
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[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
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Journal Title
Am J Med Genet (In press)
Related Report
Peer Reviewed
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[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.
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Journal Title
Am J Med Genet. (In press)
Related Report
Peer Reviewed
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