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Circ Res. 2014 Jan 31;114(3):454-68. doi: 10.1161/CIRCRESAHA.114.302810. Epub 2013 Nov 25.
2
Genetic mutations and mechanisms in dilated cardiomyopathy.扩张型心肌病的基因突变和机制。
J Clin Invest. 2013 Jan;123(1):19-26. doi: 10.1172/JCI62862. Epub 2013 Jan 2.
3
Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy.αT-连环蛋白复合区蛋白突变与致心律失常性右室心肌病相关。
Eur Heart J. 2013 Jan;34(3):201-10. doi: 10.1093/eurheartj/ehs373. Epub 2012 Nov 7.
4
Intercalated disc abnormalities, reduced Na(+) current density, and conduction slowing in desmoglein-2 mutant mice prior to cardiomyopathic changes.连接蛋白 2 突变小鼠在出现心肌病性改变之前出现连接盘异常、钠电流密度降低和传导减慢。
Cardiovasc Res. 2012 Sep 1;95(4):409-18. doi: 10.1093/cvr/cvs219. Epub 2012 Jul 3.
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Sodium current deficit and arrhythmogenesis in a murine model of plakophilin-2 haploinsufficiency.钙黏着蛋白 plakophilin-2 杂合不足的小鼠模型中的钠电流不足和心律失常发生机制。
Cardiovasc Res. 2012 Sep 1;95(4):460-8. doi: 10.1093/cvr/cvs218. Epub 2012 Jul 3.
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Histological and ultrastructural abnormalities in murine desmoglein 2-mutant hearts.小鼠桥粒芯糖蛋白 2 突变型心脏的组织学和超微结构异常。
Cell Tissue Res. 2012 May;348(2):249-59. doi: 10.1007/s00441-011-1322-3.
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Nuclear plakoglobin is essential for differentiation of cardiac progenitor cells to adipocytes in arrhythmogenic right ventricular cardiomyopathy.核斑联蛋白对于致心律失常性右室心肌病中心脏祖细胞向脂肪细胞的分化是必需的。
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Arrhythmogenic cardiomyopathy: transgenic animal models provide novel insights into disease pathobiology.致心律失常性心肌病：转基因动物模型为疾病病理生物学提供了新见解。
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Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity.缺乏桥粒斑蛋白导致致命性先天性大疱性表皮松解症：一种新的临床遗传实体。
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细胞黏附蛋白的改变与心肌病

Alterations in cell adhesion proteins and cardiomyopathy.

作者信息

Li Jifen

机构信息

Jifen Li, Center for Translational Medicine, Department of Medicine, Jefferson Medical College, Thomas Jefferson University, Philadelphia, PA 19107, United States.

出版信息

World J Cardiol. 2014 May 26;6(5):304-13. doi: 10.4330/wjc.v6.i5.304.

DOI:10.4330/wjc.v6.i5.304
PMID:24944760
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4062122/
Abstract

Cell adhesive junction is specialized intercellular structure composed of cell adhesion proteins. They are essential to connect adjacent heart muscle cell and make heart contraction effectively and properly. Clinical and genetic studies have revealed close relationship between cell adhesive proteins and the occurrence of various cardiomyopathies. Here we will review recent development on the disease phenotype, potential cellular and molecular mechanism related to cell adhesion molecules, with particular disease pathogenesis learned from genetic manipulated murine models.

摘要

细胞黏附连接是由细胞黏附蛋白组成的特殊细胞间结构。它们对于连接相邻的心肌细胞并使心脏有效且正常地收缩至关重要。临床和遗传学研究已揭示细胞黏附蛋白与各种心肌病的发生之间存在密切关系。在此，我们将综述与细胞黏附分子相关的疾病表型、潜在细胞和分子机制的最新进展，特别是从基因操作小鼠模型中了解到的疾病发病机制。