| Project/Area Number |
25461139
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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 |
Cardiovascular medicine
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| Research Institution | Kyorin University |
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Principal Investigator |
Satoh Toru 杏林大学, 医学部, 教授 (20170764)
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| Co-Investigator(Kenkyū-buntansha) |
蒲生 忍 杏林大学, その他部局等, 特任教授 (90122308)
吉野 秀朗 杏林大学, 医学部, 教授 (90129734)
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| Co-Investigator(Renkei-kenkyūsha) |
KATAOKA Masaharu 慶應義塾大学, 医学部, 講師 (20445208)
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| Project Period (FY) |
2013-04-01 – 2017-03-31
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| Project Status |
Completed (Fiscal Year 2016)
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| Budget Amount *help |
¥5,070,000 (Direct Cost: ¥3,900,000、Indirect Cost: ¥1,170,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥1,300,000 (Direct Cost: ¥1,000,000、Indirect Cost: ¥300,000)
Fiscal Year 2013: ¥2,340,000 (Direct Cost: ¥1,800,000、Indirect Cost: ¥540,000)
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| Keywords | 肺動脈性肺高血圧症 / 病態医学 / 循環器病学 / 遺伝子学 / 遺伝子解析 / BMPR２ / PAH / IPAH / ncRNA / ＰＡＨ / ＩＰＡＨ |
|---|
| Outline of Final Research Achievements |
In this study, we investigated the mutation of BMPR2 gene using large number of samples of Japanese patient with pulmonary arterial hypertension (PAH). BMPR2 gene mutations was checked by both of PCR direct sequencing and MLPA method. As a result, 41 BMPR2 gene mutations including 3 de-novo mutations were identified. Based on the results in this study, database analysis was performed. In addition, the mechanism of exon deletion was investigated, resulting the possibility of Alu-mediated deletion. Furthermore, we analyzed the relationship between BMPR2 gene mutation and clinical prognosis, demonstrating that the prognosis of patients with BMPR2 mutation was better than those without mutation.
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