| 项目编号 |
PRJCA033060 |
| 项目标题 |
Gene elusive sporadic hypertrophic cardiomyopathy genetic Study |
| 涉及领域 |
Medical |
| 数据类型 |
Exome
Raw sequence reads
|
| 物种名称 |
Homo sapiens
|
| 描述信息 |
This project aims to investigate mutations in patients with sporadic hypertrophic cardiomyopathy (HCM), specifically those cases that remain unexplained by known genetic tests. The study employs whole exome sequencing (WES) of HCM patients from Fuwai Hospital and the First Affiliated Hospital of Xi'an Jiaotong University, analyzing genetic variants to identify potential pathogenic mutations associated with HCM. The goal is to uncover new genetic variants and evaluate their role in the disease pathophysiology, ultimately providing genetic insights for early diagnosis, personalized treatment, and clinical prognosis of HCM. Patient Selection: Patients with sporadic HCM, who do not have identifiable genetic mutations and present with left ventricular outflow tract obstruction, were selected. None of the patients had a family history of HCM. Whole Exome Sequencing: DNA extracted from peripheral blood samples was subjected to 100x depth whole exome sequencing, with additional myocardial tissue analysis for variant identification. |
| 样品范围 |
Multiisolate |
| 发布日期 |
2025-01-08 |
| 出版信息 |
| PubMed ID |
文章标题 |
杂志名称 |
Doi |
发表年份 |
| 40169585
|
Somatic NAP1L1 p. D349E promotes cardiac hypertrophy through cGAS-STING-IFN signaling
|
Nature Communications
|
10.1038/s41467-025-58453-7
|
2025
|
|
|
| 项目资金来源 |
| 机构 |
项目类型 |
授权项目ID |
授权项目名称 |
| CAMS Innovation Fund for Medical Science
|
|
2023-CXGC-SYS01-2
|
|
| CAMS Innovation Fund for Medical Science
|
|
2021-I2M-1-016
|
|
| National Natural Science Foundation of China (NSFC)
|
|
81970430
|
|
| National Natural Science Foundation of China (NSFC)
|
|
82470450
|
|
| National Key Research and Development Program of China
|
|
2017YFC0909400
|
|
|
|
| 提交者 |
Yibo
Wang (yibowang@hotmail.com)
|
| 提交单位 |
Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College |
| 提交日期 |
2024-12-02 |
