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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| 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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Report
(4 results)
Research Products
(31 results)
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[Journal Article] Submicroscopic deletions at 13q32.1 cause congenital microcoria2015
Author(s)
Fares-Taie, L. Gerber, S. Tawara, A. Ramirez-Miranda, A. Douet, J. Y. Verdin, H. Guilloux, A. Zenteno, J. C. Kondo, H. Moisset, H. Passet, B. Yamamoto, K. Iwai, M. Tanaka, T. Nakamura, Y. Kimura, W. Bole-Feysot, C. Vilotte, M. Odent, S. Vilotte, J. L. Munnich, A. Regnier, A. Chassaing, N. et al.
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Journal Title
Am J Hum Genet
Volume: 96
Issue: 4
Pages: 631-9
DOI
Related Report
Peer Reviewed / Open Access / Acknowledgement Compliant
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[Presentation] 先天小瞳孔の遺伝子解析2013
Author(s)
近藤寛之, 田平知子, 宮本直哉, 永田竜朗, 吉田茂生, 山本健, 田原昭彦
Organizer
第117回日本眼科学会総会
Place of Presentation
東京・東京国際フォーラム
Related Report
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[Presentation] Occurrence of retinal detachment in Japanese patients with Stickler syndrome2013
Author(s)
Kondo, H, Hayashi, T, Kondo, M, Ohji, M, Kusaka, S
Organizer
Annual meeting of the American Academy of Ophthalmology
Place of Presentation
New Orleans, Luisiana, USA
Related Report
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