| Project/Area Number |
25462743
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Ophthalmology
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| Research Institution | University of Occupational and Environmental Health, Japan |
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Principal Investigator |
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| Co-Investigator(Kenkyū-buntansha) |
TAHIRA Tomoko 九州大学, 先端融合医療レドックスナビ研究拠点, 研究員 (50155230)
UCHIO Eiichi 福岡大学, 医学部, 教授 (70232840)
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| Project Period (FY) |
2013-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥4,940,000 (Direct Cost: ¥3,800,000、Indirect Cost: ¥1,140,000)
Fiscal Year 2015: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2014: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2013: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
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| Keywords | 家族性滲出性硝子体網膜症 / 遺伝子 / ZNF408 / ATOH7 / KIF11 / Stickler症候群 / 小瞳孔 / GPR180 / 遺伝子異常 / CTNNB1 / COL2A1 / WNTシグナル / レポーターアッセイ / 遺伝子変異 / 網膜剥離 / 血管形成 / SuperTOPFLASH / TOPFALSH / 視神経 |
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| Outline of Final Research Achievements |
Familial exudative vitreoretinopathy is a hereditary ocular disorder that is characterized by insufficient development of retinal vessels. The disease has high clinical and genetic heterogeneity. Four genes are known to cause the disease so far. We identified a new gene ZNF408 to be causative for this disease and investigated the gene function. In addition, we established the roles of another newly reported genes, ATOH7 and KIF11 in relation to this disease. This study has conducted the better understanding of genotype phenotype relationship of this disease.
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