COM.on C.A.6:e5/30-33   Online published on Jan.17, 2012.
doi:10.4236/coca.2012.61005

REVIEW
Genetic mechanisms of Notch signaling pathway in human Congenital Heart Defects

Jue Wang

School of Life Sciences, Fudan University, Shanghai 200433, China

ABSTRACT: Congenital Heart Defects (CHDs) is the birth defect ranked number one in the world. The incidence of this disease is rising in China currently. Notch signaling pathway is a highly conserved signaling pathway. It is involved in many steps in heart development, such as myocardial differentiation, formation of atrioventricular junction, valve development, formation of ventricular trabeculation, and outflow tract remodeling. Here, we reviewed the genetic mechanisms of Notch signaling pathway in human CHDs, investigated the impact of Notch gene abnormalities or variations on the generation of CHDs.

Key words: Congenital Heart Defects, Notch signaling pathway, Notch target gene, modern genetics

Notch信号通路在人类先天性心脏病中的遗传机制

王珏

复旦大学生命科学学院，上海 200433

摘要：先天性心脏病是排名第一的出生缺陷，目前在中国的发病率还在不断上升。 Notch信号通路是一个高度保守的信号途径，它涉及到心脏发育中的很多步骤，有心肌分化、房室管边界形成、瓣膜发育、心室小梁形成以及流出道重塑。本篇文章就Notch信号在人类先天性心脏病中的遗传机制进行分析，来探讨Notch基因的异常或变异对先心病产生的影响。

关键词：先天性心脏病；Notch信号通路；Notch靶基因；现代遗传学

 

收稿日期：2011年12月7日  修回日期：2011年12月20日 联系人：王珏 juer520@163.com

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