ENU-based dominant genetic screen identifies contractile and neuronal gene mutations in congenital heart disease
Our findings suggest that gene mutations affecting early hemodynamic perturbations in the developing heart may play a significant role as a genetic risk factor for CHD. Further validation of the candidate gene set identified in this study could enhance our understanding of the complex genetics underlying CHD and potentially lead to the development of new diagnostic and therapeutic approaches.
Authors
- Hongjun Shi (ORCID: https://orcid.org/0000-0002-4993-2322)
- Nan Li (ORCID: https://orcid.org/0000-0002-8248-9027)
- Xiangyang Liu (ORCID: https://orcid.org/0000-0001-6590-2476)
- Haowei Rong
- Xiaoxi Luo
- Lifeng Liu (ORCID: https://orcid.org/0000-0002-6363-3433)
- Ling Yang (ORCID: https://orcid.org/0009-0008-8832-9682)
Institutions
- Westlake University (CN)
- Institute of Basic Medical Sciences of the Chinese Academy of Medical Sciences
- Zhejiang University (CN)
Publication Details
- Journal
- Genome Medicine
- Published
- 2024-08-12
- DOI
- https://doi.org/10.1186/s13073-024-01372-x
- Citations
- 5
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 1.17
Funders
- U.S. Department of Health and Human Services
- Westlake University
- National Institutes of Health
- National Heart, Lung, and Blood Institute
- Natural Science Foundation of Zhejiang Province