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A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT Syndrome.一种精准医学方法用于挽救恶性钙调蛋白病性长QT综合征的功能。
Circ Res. 2017 Jan 6;120(1):39-48. doi: 10.1161/CIRCRESAHA.116.309283. Epub 2016 Oct 20.
2
Novel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.CALM3基因中与儿茶酚胺敏感性多形性室性心动过速相关的新型钙调蛋白突变（CALM3-A103V）激活致心律失常性钙波和钙火花。
Circ Arrhythm Electrophysiol. 2016 Aug;9(8). doi: 10.1161/CIRCEP.116.004161.
3
Spectrum and Prevalence of CALM1-, CALM2-, and CALM3-Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome-Associated Calmodulin Missense Variant, E141G.长QT综合征中CALM1、CALM2和CALM3编码的钙调蛋白变体的谱系和患病率以及一种新型长QT综合征相关钙调蛋白错义变体E141G的功能表征
Circ Cardiovasc Genet. 2016 Apr;9(2):136-146. doi: 10.1161/CIRCGENETICS.115.001323. Epub 2016 Mar 11.
4
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.致心律失常性钙调蛋白突变通过不同机制破坏细胞内心肌细胞钙离子调节。
J Am Heart Assoc. 2014 Jun 23;3(3):e000996. doi: 10.1161/JAHA.114.000996.
5
Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.与长QT综合征相关的钙调蛋白突变可阻止心脏L型钙电流的失活，并促进心室肌细胞的致心律失常行为。
J Mol Cell Cardiol. 2014 Sep;74:115-24. doi: 10.1016/j.yjmcc.2014.04.022. Epub 2014 May 8.
6
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.致心律失常性人类钙调蛋白错义突变体对兰尼碱受体 2 钙释放通道的不同调节作用。
Circ Res. 2014 Mar 28;114(7):1114-24. doi: 10.1161/CIRCRESAHA.114.303391. Epub 2014 Feb 21.
7
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.CALM1 基因突变致CALM1 编码钙调蛋白，引起家族性特发性青少年心室颤动。
J Am Coll Cardiol. 2014 Jan 28;63(3):259-66. doi: 10.1016/j.jacc.2013.07.091. Epub 2013 Sep 25.
8
Calmodulin mutations associated with recurrent cardiac arrest in infants.与婴儿反复心脏骤停相关的钙调蛋白突变。
Circulation. 2013 Mar 5;127(9):1009-17. doi: 10.1161/CIRCULATIONAHA.112.001216. Epub 2013 Feb 6.
9
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.钙调蛋白突变导致室性心动过速和心源性猝死。
Am J Hum Genet. 2012 Oct 5;91(4):703-12. doi: 10.1016/j.ajhg.2012.08.015.
10
Engineered calmodulins reveal the unexpected eminence of Ca2+ channel inactivation in controlling heart excitation.工程改造的钙调蛋白揭示了钙离子通道失活在控制心脏兴奋方面出人意料的重要性。
Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):17185-90. doi: 10.1073/pnas.262372999. Epub 2002 Dec 16.

CALMing Down Arrhythmogenic Calmodulinopathies via a Precision Medicine Approach.

作者信息

Bers Donald M

机构信息

From the Department of Pharmacology, University of California, Davis.

出版信息

Circ Res. 2017 Jan 6;120(1):3-4. doi: 10.1161/CIRCRESAHA.116.310216.

DOI:10.1161/CIRCRESAHA.116.310216
PMID:28057778
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5226118/
Abstract
摘要