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先天性心脏病中的平面细胞极性信号通路。

Planar cell polarity signaling pathway in congenital heart diseases.

作者信息

Wu Gang, Ge Jiao, Huang Xupei, Hua Yimin, Mu Dezhi

机构信息

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China.

出版信息

J Biomed Biotechnol. 2011;2011:589414. doi: 10.1155/2011/589414. Epub 2011 Oct 29.

DOI:10.1155/2011/589414
PMID:22131815
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3205795/
Abstract

Congenital heart disease (CHD) is a common cardiac disorder in humans. Despite many advances in the understanding of CHD and the identification of many associated genes, the fundamental etiology for the majority of cases remains unclear. The planar cell polarity (PCP) signaling pathway, responsible for tissue polarity in Drosophila and gastrulation movements and cardiogenesis in vertebrates, has been shown to play multiple roles during cardiac differentiation and development. The disrupted function of PCP signaling is connected to some CHDs. Here, we summarize our current understanding of how PCP factors affect the pathogenesis of CHD.

摘要

先天性心脏病(CHD)是人类常见的心脏疾病。尽管在CHD的认识以及许多相关基因的鉴定方面取得了诸多进展,但大多数病例的根本病因仍不清楚。平面细胞极性(PCP)信号通路负责果蝇的组织极性、脊椎动物的原肠胚形成运动和心脏发生,已被证明在心脏分化和发育过程中发挥多种作用。PCP信号功能的破坏与某些CHD有关。在这里,我们总结了目前对PCP因子如何影响CHD发病机制的理解。

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2
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本文引用的文献

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Rho-kinase in development and heart failure: insights from genetic models.Rho激酶在发育和心力衰竭中的作用:来自遗传模型的见解
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The Wnt/planar cell polarity protein-tyrosine kinase-7 (PTK7) is a highly efficient proteolytic target of membrane type-1 matrix metalloproteinase: implications in cancer and embryogenesis.Wnt/平面细胞极性蛋白酪氨酸激酶-7(PTK7)是膜型-1 基质金属蛋白酶的高效蛋白水解靶标:在癌症和胚胎发生中的意义。
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Clin Genet. 2011 Jul;80(1):76-82. doi: 10.1111/j.1399-0004.2010.01515.x. Epub 2010 Jul 22.
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The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear.新型小鼠突变体chuzhoi的Ptk7蛋白功能紊乱,在神经管、心脏和肺部发育方面表现出缺陷,耳部平面细胞极性异常。
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