Insights into the genetic architecture of congenital heart disease from animal modeling

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	Insights into the genetic architecture of congenital heart disease from animal modeling
	Zhu, WJ; Lo, CW
	2023
发表期刊	ZOOLOGICAL RESEARCH
ISSN	2095-8137
卷号	44 期号:3 页码:577-590
摘要	Congenital heart disease (CHD) is observed in up to 1% of live births and is one of the leading causes of mortality from birth defects. While hundreds of genes have been implicated in the genetic etiology of CHD, their role in CHD pathogenesis is still poorly understood. This is largely a reflection of the sporadic nature of CHD, as well as its variable expressivity and incomplete penetrance. We reviewed the monogenic causes and evidence for oligogenic etiology of CHD, as well as the role of de novo mutations, common variants, and genetic modifiers. For further mechanistic insight, we leveraged single-cell data across species to investigate the cellular expression characteristics of genes implicated in CHD in developing human and mouse embryonic hearts. Understanding the genetic etiology of CHD may enable the application of precision medicine and prenatal diagnosis, thereby patients with CHD.
收录类别	SCI
语种	英语
文献类型	期刊论文
条目标识符	http://ir.kiz.ac.cn/handle/152453/14102
专题	其他
推荐引用方式 GB/T 7714	Zhu, WJ,Lo, CW. Insights into the genetic architecture of congenital heart disease from animal modeling[J]. ZOOLOGICAL RESEARCH,2023,44(3):577-590.
APA	Zhu, WJ,&Lo, CW.(2023).Insights into the genetic architecture of congenital heart disease from animal modeling.ZOOLOGICAL RESEARCH,44(3),577-590.
MLA	Zhu, WJ,et al."Insights into the genetic architecture of congenital heart disease from animal modeling".ZOOLOGICAL RESEARCH 44.3(2023):577-590.

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2024061498.pdf（10412KB）	期刊论文	出版稿	开放获取	CC BY-NC-SA	请求全文