Identification and functional analysis of novel causative gene responsible for congenital thrombocytopenia
| Project/Area Number |
26461405
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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 |
Hematology
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| Research Institution | Ehime University |
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Principal Investigator |
HATO TAKAAKI 愛媛大学, 医学部附属病院, 准教授 (30172943)
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| Co-Investigator(Kenkyū-buntansha) |
山之内 純 愛媛大学, 医学部附属病院, 講師 (10423451)
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| Co-Investigator(Renkei-kenkyūsha) |
Yasukawa Masaki 愛媛大学, 大学院医学研究科, 教授 (60127917)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥4,810,000 (Direct Cost: ¥3,700,000、Indirect Cost: ¥1,110,000)
Fiscal Year 2016: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2015: ¥1,560,000 (Direct Cost: ¥1,200,000、Indirect Cost: ¥360,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 血小板減少症 / 血栓性素因 / 動脈血栓症 / 静脈血栓症 / 血小板凝集 / 血小板 / 血栓症 / 血栓止血学 / 血液内科学 |
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| Outline of Final Research Achievements |
We found a large family with congenital thrombocytopenia and arteriovenous thrombosis. As a consequence of genetic analysis, we could identify mutation of a G protein-coupled receptor, GPR25. Transgenic mice bearing this mutation showed thrombocytopenia in some mice, but not in others, suggesting inconclusive evidence. We successfully generated anti-GPR25 monoclonal antibody and our antibody experiments confirmed the expression of the GPR25 protein on the platelet surface. Moreover, functional analysis revealed that patient’s platelets had enhanced platelet aggregation and formed firm aggregates in agonist-induced platelet aggregation.
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Report
(4 results)
Research Products
(16 results)
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[Presentation] High serum thrombopoietin levels in a favorable subpopulation of MDS with thrombocytopenia2016
Author(s)
Yamanouchi J, Hato T, Ikeda Y, Asai H, Matsubara E, Tanimoto K, Takeuchi T, Azuma T, Fujiwara H, Yakushijin Y, Yasukawa M
Organizer
第78回日本血液学会学術集会
Place of Presentation
横浜市
Year and Date
2016-10-18
Related Report
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[Presentation] Effect of calreticulin mutation on the integrin alphaIIb beta3 function.2015
Author(s)
Yamanouchi J, Hato T, Nakanishi H, Asai H, Matsubara E, Tanimoto K, Takeuchi K, Azuma T, Fujiwara H, Yakushijin Y, Yasukawa M.
Organizer
第77回日本血液学会学術集会
Place of Presentation
ホテル金沢（石川県、金沢市）
Year and Date
2015-10-16
Related Report
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