2012 Fiscal Year Final Research Report
he analysis of the TGF-β family and angiodysplasia bywhole exome sequencing.
Project/Area Number |
23659437
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Research Category |
Grant-in-Aid for Challenging Exploratory Research
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Allocation Type | Multi-year Fund |
Research Field |
Respiratory organ internal medicine
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Research Institution | Saitama Medical University |
Principal Investigator |
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Project Period (FY) |
2011 – 2012
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Keywords | 呼吸器病学 |
Research Abstract |
The purpose of this study isto reveal thegene forarteriovenousmalformationof unknown cause. Cause of arteriovenous malformation such as Osler-Weber-Rendu disease or heritable pulmonary arterial hypertension is caused by single gene defects such as the TGF-beta family gene.Wehypothesized thatmalformationisassociated with TGF-beta gene family. Using patient samples as arteriovenous malformation, we analyzed by whole exome sequencing and investigated that mutations are present in the TGF-beta family genes. In the gene family of about 70 genes, we found two candidate genes where the mutation in exon on.
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Research Products
(1 results)