| Project/Area Number |
23659437
|
|---|
| Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
| Allocation Type | Multi-year Fund |
|---|
| Research Field |
Respiratory organ internal medicine
|
|---|
| Research Institution | Saitama Medical University |
|---|
Principal Investigator |
|
|---|
| Project Period (FY) |
2011 – 2012
|
| Project Status |
Completed (Fiscal Year 2012)
|
| Budget Amount *help |
¥3,770,000 (Direct Cost: ¥2,900,000、Indirect Cost: ¥870,000)
Fiscal Year 2012: ¥650,000 (Direct Cost: ¥500,000、Indirect Cost: ¥150,000)
Fiscal Year 2011: ¥3,120,000 (Direct Cost: ¥2,400,000、Indirect Cost: ¥720,000)
|
|---|
| Keywords | 呼吸器病学 / ゲノム / TGF-β / 血管形成 / TGF－β |
|---|
| 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.
|
