2014 Fiscal Year Final Research Report
A comprehensive analysis of the TGF-beta family genes in the patients with abnormal pulmonary vessels
| Project/Area Number |
24659408
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Multi-year Fund |
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| Research Field |
Respiratory organ internal medicine
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| Research Institution | Saitama Medical University |
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Principal Investigator |
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| Project Period (FY) |
2012-04-01 – 2015-03-31
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| Keywords | 肺血管異常 / TGF-β / エキソーム / アミノ酸変異 |
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| Outline of Final Research Achievements |
Genomic DNA isolated from patients who has abnormal lung vessel structure has been investigated by exome sequencing. Non-synonymous variants found were as follows: pP2T in BMPR1A, pM630L in CHRD, pG213R in GDF-3, pS276A in GDF-5, pA330S in GDF-7, pV9L and pS48T in DGF-15, pD322A and pR33Q in LEFTY, pH165R in Nodal, pD399E, pD415E, and pD423E in RGMA, and c1314_1315insC in Smad5. The effects these variant gives to the pulmonary vessel structure should be investigated.
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| Free Research Field |
呼吸器内科学
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