2012 Fiscal Year Final Research Report
Analysis of the factors on male infertility and habitual abortion & their Applications to clinical medicine
| Project/Area Number |
22591811
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Obstetrics and gynecology
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| Research Institution | Asahikawa Medical College |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
SENGOKU Kazuo 旭川医科大学, 医学部, 教授 (30163124)
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| Project Period (FY) |
2010 – 2012
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| Keywords | 生殖医学 |
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| Research Abstract |
We identified the human HORMAD1 gene causing azoospermia by meiotic arrest. In Addition, We also identified the human LRWD1 gene causing azoospermia by SCOS and we demonstrated that the human SEPTIN12 is critical in azoospermia by MA and SCOS.
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[Journal Article] Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing2013
Author(s)
Kondo Y, Saitsu H, Miyamoto T, Lee BJ, Nishiyama K, Nakashima M, Tsurusaki Y, Doi H, Miyake N, Kim JH, Yu YS, Matsumoto N
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Journal Title
Mol Vis
Volume: 19
Pages: 384-9
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[Journal Article] A family of oculofaciocardiodental syndrome (OFCD) with a novel BCOR mutation and genomic rearrangements involving NHS2012
Author(s)
Kondo Y, Saitsu H, Miyamoto T, Nishiyama K, Tsurusaki Y, Doi H, Miyake N, Ryoo NK, Kim JH, Yu YS, Matsumoto N
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Journal Title
J Hum Genet
Volume: 57(3)
Pages: 197-201
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