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TGF-β/NODAL信号通路基因在心脏发育和先天性心脏病致病机制的关系
引用本文:李欢,杨雅媚,杨紫霞,李飞峰,刘树林.TGF-β/NODAL信号通路基因在心脏发育和先天性心脏病致病机制的关系[J].国际遗传学杂志,2017,40(3).
作者姓名:李欢  杨雅媚  杨紫霞  李飞峰  刘树林
作者单位:1. 150081,哈尔滨医科大学药学院;150081,哈尔滨医科大学基因组中心;2. 150081,哈尔滨医科大学药学院;150081,哈尔滨医科大学基因组中心;150081,哈尔滨医科大学转化医学中心;3. 150081,哈尔滨医科大学药学院;150081,哈尔滨医科大学基因组中心;150081,哈尔滨医科大学转化医学中心;T2N4N1,加拿大卡尔加里大学微生物学系
基金项目:Natural Science Foundation of China,Heilongjiang Innovation Research Foundation for College Students,Health and Family Planning Commission of Heilongjiang province Foundation,Chinese Postdoctoral Science Foundation (2016M601460)国家自然科学基金,黑龙江省大学生创新基金,黑龙江省卫生计生委基金,中国博士后科学基金
摘    要:先天性心脏病是最常见的新生儿先天畸形,它是由胚胎期心脏结构的异常发育造成的.据2014年中国卫生和计划生育统计年鉴显示,我国有75‰的新生儿承受着先天性心脏病带来的痛苦.研究已证明它是一种多基因病,牵涉到多种信号通路.TGF-β/Nodal信号通路被证明在心脏形成和左右轴建立的过程中起到重要的作用.TGF-β与环状心的形成和心肌纤维化,动脉圆锥干畸形,动脉导管未闭等先心病密切相关;Nodal以及其下游基因参与心脏不对称发育.此篇综述旨在总结TGF-β/Nodal信号通路及其相关基因在心脏发育中的作用,为揭示TGF-β/NODAL信号通路和先心病发病机制之间的关系提供帮助.

关 键 词:TGF-β/NODAL信号通路  先天性心脏病  发病机制  基因调节

The relationship between TGF-β/NODAL signaling pathway and pathogenesis of congenital heart disease and the developments of heart
Li Huan,Yang Yamei,Yang Zixia,Li Feifeng,Liu Shulin.The relationship between TGF-β/NODAL signaling pathway and pathogenesis of congenital heart disease and the developments of heart[J].International JOurnal of Genetics,2017,40(3).
Authors:Li Huan  Yang Yamei  Yang Zixia  Li Feifeng  Liu Shulin
Abstract:Congenital heart disease (CHD) is the most common congenital malformation among newborns.It is caused by abnormal development of cardiovascular structure in the embryo.According to Chinese Journal of Health Informatics and Management in 2014,7.5% of newborns in China suffer from CHD.It is a polygenic disease and involvs multiple signaling pathways.The TGF-β/Nodal signaling pathway plays a vital role in heart formation and L-R patterning.TGF-β can affect heart looping,and is related to myocardial fibrosis,conotruncal defect and patent ductus arteriosus.Nodal and its downstream genes affect the asymmetric development of heart.The purpose of this review is to provide a brief summary of the role that TGF-β/Nodal signaling pathway and related genes play in cardiac development,and to provide insight into the relationship between TGF-β/NODAL signaling pathway and the pathogenic mechanisms of CHD.
Keywords:TGF-3/NODAL Signaling pathway  Congenital heart disease  Pathogenesis  Gene regulation
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