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N Engl J Med. 2017 Jan 5;376(1):61-72. doi: 10.1056/NEJMra1509267.
2
The Future of Genetics and Genomics: Closing the Phenotype Gap in Precision Medicine.遗传学与基因组学的未来：弥合精准医学中的表型差距。
Circulation. 2016 Jun 21;133(25):2634-9. doi: 10.1161/CIRCULATIONAHA.116.022547.
3
Central role for GSK3β in the pathogenesis of arrhythmogenic cardiomyopathy.糖原合成酶激酶3β在致心律失常性心肌病发病机制中的核心作用。
JCI Insight. 2016 Apr 21;1(5). doi: 10.1172/jci.insight.85923.
4
Characterizing the Molecular Pathology of Arrhythmogenic Cardiomyopathy in Patient Buccal Mucosa Cells.表征致心律失常性心肌病患者颊黏膜细胞的分子病理学特征。
Circ Arrhythm Electrophysiol. 2016 Feb;9(2):e003688. doi: 10.1161/CIRCEP.115.003688.
5
Genetics of sudden cardiac death.心源性猝死的遗传学
Curr Cardiol Rep. 2015 Jul;17(7):606. doi: 10.1007/s11886-015-0606-8.
6
Desmosome regulation and signaling in disease.疾病中的桥粒调节与信号传导
Cell Tissue Res. 2015 Jun;360(3):501-12. doi: 10.1007/s00441-015-2136-5. Epub 2015 Feb 19.
7
Present understanding of the relationship between exercise and arrhythmogenic right ventricular dysplasia/cardiomyopathy.目前对运动与致心律失常性右室心肌病/发育不良之间关系的认识。
Trends Cardiovasc Med. 2015 Apr;25(3):181-8. doi: 10.1016/j.tcm.2014.10.007. Epub 2014 Oct 30.
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Identification of a new modulator of the intercalated disc in a zebrafish model of arrhythmogenic cardiomyopathy.在致心律失常性心肌病斑马鱼模型中鉴定一种新的闰盘调节剂。
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Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear.致心律失常性右室心肌病/心疾病和心脏结节病：诊断不明确时的鉴别特征。
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10
Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy.复合杂合性和双基因杂合性可预测桥粒基因相关致心律失常性右室心肌病的终生心律失常结局和心源性猝死。
Circ Cardiovasc Genet. 2013 Dec;6(6):533-42. doi: 10.1161/CIRCGENETICS.113.000288. Epub 2013 Sep 26.

致心律失常性心肌病发病机制中的分子机制

Molecular mechanisms in the pathogenesis of arrhythmogenic cardiomyopathy.

作者信息

Saffitz Jeffrey E

机构信息

Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.

出版信息

Cardiovasc Pathol. 2017 May-Jun;28:51-58. doi: 10.1016/j.carpath.2017.02.005. Epub 2017 Feb 27.

DOI:10.1016/j.carpath.2017.02.005
PMID:28319834
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5423831/
Abstract

The article is based on work presented in the Distinguished Achievement Award lecture at the Society for Cardiovascular Pathology meeting in Seattle, WA, in March 2016. It reviews our current understanding of mechanisms responsible for a highly arrhythmogenic, nonischemic cardiomyopathy. It highlights the armamentarium of powerful methods available to the experimental pathologist in efforts to define how complex cardiovascular diseases work. It concludes with acknowledgment of the need for a far more detailed approach as to how we categorize human disease, a task for which pathologists are especially well positioned.

摘要

本文基于2016年3月在华盛顿州西雅图市举行的心血管病理学会会议上杰出成就奖讲座中所展示的工作。它回顾了我们目前对导致高度致心律失常性、非缺血性心肌病机制的理解。它强调了实验病理学家可用的一系列强大方法，以努力确定复杂心血管疾病的发病机制。文章最后承认，对于我们如何对人类疾病进行分类，需要一种更为详细的方法，而病理学家在这项任务中具有独特的优势。