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Genetic Spectrum of Arrhythmogenic Cardiomyopathy.

作者信息

Gacita Anthony M, McNally Elizabeth M

机构信息

Center for Genetic Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL.

出版信息

Circ Heart Fail. 2019 Mar;12(3):e005850. doi: 10.1161/CIRCHEARTFAILURE.119.005850.

DOI:10.1161/CIRCHEARTFAILURE.119.005850
PMID:30871346
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6422169/
Abstract
摘要

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Pathogenic RBM20-Variants Are Associated With a Severe Disease Expression in Male Patients With Dilated Cardiomyopathy.致病性 RBM20 变异与男性扩张型心肌病患者的严重疾病表型相关。
Circ Heart Fail. 2019 Mar;12(3):e005700. doi: 10.1161/CIRCHEARTFAILURE.118.005700.
3
Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).
J Clin Med. 2022 Mar 10;11(6):1519. doi: 10.3390/jcm11061519.
4
Malignant Arrhythmogenic Role Associated with : A Comprehensive Interpretation Focused on a Personalized Approach.与恶性心律失常相关的作用：基于个性化方法的全面解读
J Pers Med. 2021 Feb 15;11(2):130. doi: 10.3390/jpm11020130.
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Dysregulated ribonucleoprotein granules promote cardiomyopathy in RBM20 gene-edited pigs.调控异常的核糖核蛋白颗粒促进 RBM20 基因编辑猪的心肌病。
Nat Med. 2020 Nov;26(11):1788-1800. doi: 10.1038/s41591-020-1087-x. Epub 2020 Nov 13.
肥厚型心肌病的基因型与疾病终生负担：来自肌节性人类心肌病注册研究（SHaRe）的见解。
Circulation. 2018 Oct 2;138(14):1387-1398. doi: 10.1161/CIRCULATIONAHA.117.033200. Epub 2018 Aug 23.
4
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.生物银行驱动的基因组发现为心房颤动生物学提供了新的见解。
Nat Genet. 2018 Sep;50(9):1234-1239. doi: 10.1038/s41588-018-0171-3. Epub 2018 Jul 30.
5
2017 AHA/ACC/HRS guideline for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Executive summary: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines and the Heart Rhythm Society.2017年美国心脏协会/美国心脏病学会/心律学会室性心律失常患者管理和心脏性猝死预防指南：执行摘要：美国心脏病学会/美国心脏协会临床实践指南工作组和心律学会报告
Heart Rhythm. 2018 Oct;15(10):e190-e252. doi: 10.1016/j.hrthm.2017.10.035. Epub 2017 Oct 30.
6
Dilated Cardiomyopathy: Genetic Determinants and Mechanisms.扩张型心肌病：遗传决定因素与机制
Circ Res. 2017 Sep 15;121(7):731-748. doi: 10.1161/CIRCRESAHA.116.309396.
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Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.截断型 FLNC 突变与高危扩张型和心律失常性心肌病相关。
J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451. doi: 10.1016/j.jacc.2016.09.927.
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Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
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A mutation in the glutamate-rich region of RNA-binding motif protein 20 causes dilated cardiomyopathy through missplicing of titin and impaired Frank-Starling mechanism.RNA 结合蛋白 20 的谷氨酸丰富区的突变通过肌联蛋白的错剪接和弗兰克-斯塔尔机制受损导致扩张型心肌病。
Cardiovasc Res. 2016 Oct;112(1):452-63. doi: 10.1093/cvr/cvw192. Epub 2016 Aug 5.
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Dilated cardiomyopathy: the complexity of a diverse genetic architecture.扩张型心肌病：多样化遗传结构的复杂性。
Nat Rev Cardiol. 2013 Sep;10(9):531-47. doi: 10.1038/nrcardio.2013.105. Epub 2013 Jul 30.