| 项目编号 |
PRJCA028292 |
| 项目标题 |
Mechanism of DSC2 in cardiomyopathy |
| 涉及领域 |
Medical |
| 数据类型 |
Transcriptome or Gene expression
|
| 物种名称 |
Mus musculus
|
| 描述信息 |
ARVC is an inherited heart disease characterized by irregular heart rhythms and a dilated right ventricle. Here, we identified a novel homozygous DSC2 mutation in a Chinese family with consanguineous marriage,which caused the manifestation of ARVC in several middle-aged family members. DSC2 loss of function mice developed phenotypes of right ventricular dilation and dysfunction, which recapitulated the disease characteristics in humans. Here, we want to further to explore the mechanism of DSC2 in ARVC. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2024-12-21 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 40211944
|
Modified mRNA Treatment Restores Cardiac Function in Desmocollin-2–Deficient Mouse Models of Arrhythmogenic Right Ventricular Cardiomyopathy
|
Circulation
|
10.1161/CIRCULATIONAHA.124.072340
|
2025
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| National Natural Science Foundation of China (NSFC)
|
|
82370357
|
|
|
|
| 提交者 |
Yuxiang
Dai (dai.yuxiang@hotmail.com)
|
| 提交单位 |
Zhongshan Hospital, Fudan University |
| 提交日期 |
2024-07-19 |
