2015 Fiscal Year Final Research Report
Genetic variations and functions in familial exudative vitreoretinopathy
| 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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| 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 |
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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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| Free Research Field |
眼科学、網膜、遺伝性眼疾患
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