CALM3 mutation associated with long QT syndrome.
作者信息
Reed Griffin J, Boczek Nicole J, Etheridge Susan P, Ackerman Michael J
机构信息
Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory.
Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory; Center for Clinical and Translational Science; Mayo Graduate School, Mayo Clinic, Rochester, Minnesota.
出版信息
Heart Rhythm. 2015 Feb;12(2):419-22. doi: 10.1016/j.hrthm.2014.10.035. Epub 2014 Oct 31.
Abstract
摘要
相似文献
1
CALM3 mutation associated with long QT syndrome.
Heart Rhythm. 2015 Feb;12(2):419-22. doi: 10.1016/j.hrthm.2014.10.035. Epub 2014 Oct 31.
2
Calmodulinopathy: a genetic trilogy.
Heart Rhythm. 2015 Feb;12(2):423-4. doi: 10.1016/j.hrthm.2014.11.017. Epub 2014 Nov 18.
3
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.
J Am Coll Cardiol. 2014 Jan 28;63(3):259-66. doi: 10.1016/j.jacc.2013.07.091. Epub 2013 Sep 25.
4
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
J Mol Cell Cardiol. 2015 Mar;80:186-95. doi: 10.1016/j.yjmcc.2015.01.002. Epub 2015 Jan 26.
5
Heterogeneous Phenotype of Long QT Syndrome Caused by the KCNH2-H562R Mutation: Importance of Familial Genetic Testing.
Rev Esp Cardiol (Engl Ed). 2015 Oct;68(10):861-8. doi: 10.1016/j.rec.2014.10.022. Epub 2015 Mar 26.
6
Single Construct Suppression and Replacement Gene Therapy for the Treatment of All -, -, and -Mediated Arrhythmia Disorders.
Circ Arrhythm Electrophysiol. 2024 Aug;17(8):e012036. doi: 10.1161/CIRCEP.123.012036. Epub 2024 Jul 29.
7
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.
Cardiovasc Res. 2008 Mar 1;77(4):740-8. doi: 10.1093/cvr/cvm096. Epub 2007 Dec 7.
8
Electrophysiological phenotype in the LQTS mutations Y111C and R518X in the KCNQ1 gene.
J Appl Physiol (1985). 2013 Nov;115(10):1423-32. doi: 10.1152/japplphysiol.00665.2013. Epub 2013 Sep 19.
9
A family of hereditary long QT syndrome caused by Q738X HERG mutation.
Int J Cardiol. 2010 Sep 24;144(1):69-72. doi: 10.1016/j.ijcard.2008.12.053. Epub 2009 Jan 21.
10
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
Hum Mutat. 2002 Dec;20(6):475-6. doi: 10.1002/humu.9085.
引用本文的文献
1
Arrhythmogenic calmodulin variants D131E and Q135P disrupt interaction with the L-type voltage-gated Ca channel (Ca1.2) and reduce Ca-dependent inactivation.
Acta Physiol (Oxf). 2025 Feb;241(2):e14276. doi: 10.1111/apha.14276.
2
Ion channel traffic jams: the significance of trafficking deficiency in long QT syndrome.
Cell Discov. 2025 Jan 10;11(1):3. doi: 10.1038/s41421-024-00738-0.
3
JCS/JHRS 2022 Guideline on Diagnosis and Risk Assessment of Arrhythmia.
J Arrhythm. 2024 Jun 12;40(4):655-752. doi: 10.1002/joa3.13052. eCollection 2024 Aug.
4
Glycogen metabolism-mediated intercellular communication in the tumor microenvironment influences liver cancer prognosis.
Oncol Res. 2024 Feb 6;32(3):563-576. doi: 10.32604/or.2023.029697. eCollection 2024.
5
Early-onset cardiac arrest, prolonged QT interval, and left ventricular hypertrophy: Phenotypic manifestations of a pathogenic de novo calmodulin variant.
HeartRhythm Case Rep. 2023 Aug 31;9(12):858-862. doi: 10.1016/j.hrcr.2023.08.015. eCollection 2023 Dec.
6
Long QT syndrome-associated calmodulin variants disrupt the activity of the slowly activating delayed rectifier potassium channel.
J Physiol. 2023 Sep;601(17):3739-3764. doi: 10.1113/JP284994. Epub 2023 Jul 10.
7
Calcium Handling in Inherited Cardiac Diseases: A Focus on Catecholaminergic Polymorphic Ventricular Tachycardia and Hypertrophic Cardiomyopathy.
Int J Mol Sci. 2023 Feb 8;24(4):3365. doi: 10.3390/ijms24043365.
8
Understanding Calmodulin Variants Affecting Calcium-Dependent Inactivation of L-Type Calcium Channels through Whole-Cell Simulation of the Cardiac Ventricular Myocyte.
Biomolecules. 2022 Dec 29;13(1):72. doi: 10.3390/biom13010072.
9
Calmodulin Mutations in Human Disease.
Channels (Austin). 2023 Dec;17(1):2165278. doi: 10.1080/19336950.2023.2165278.
10
Calcium Signalling in Heart and Vessels: Role of Calmodulin and Downstream Calmodulin-Dependent Protein Kinases.
Int J Mol Sci. 2022 Dec 17;23(24):16139. doi: 10.3390/ijms232416139.
本文引用的文献
1
Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.
J Am Heart Assoc. 2014 Jun 23;3(3):e000996. doi: 10.1161/JAHA.114.000996.
2
Novel calmodulin mutations associated with congenital arrhythmia susceptibility.
Circ Cardiovasc Genet. 2014 Aug;7(4):466-74. doi: 10.1161/CIRCGENETICS.113.000459. Epub 2014 Jun 10.
3
Calmodulin mutations associated with long QT syndrome prevent inactivation of cardiac L-type Ca(2+) currents and promote proarrhythmic behavior in ventricular myocytes.
J Mol Cell Cardiol. 2014 Sep;74:115-24. doi: 10.1016/j.yjmcc.2014.04.022. Epub 2014 May 8.
4
Divergent regulation of ryanodine receptor 2 calcium release channels by arrhythmogenic human calmodulin missense mutants.
Circ Res. 2014 Mar 28;114(7):1114-24. doi: 10.1161/CIRCRESAHA.114.303391. Epub 2014 Feb 21.
5
Executive summary: heart disease and stroke statistics--2014 update: a report from the American Heart Association.
Circulation. 2014 Jan 21;129(3):399-410. doi: 10.1161/01.cir.0000442015.53336.12.
6
A mutation in CALM1 encoding calmodulin in familial idiopathic ventricular fibrillation in childhood and adolescence.
J Am Coll Cardiol. 2014 Jan 28;63(3):259-66. doi: 10.1016/j.jacc.2013.07.091. Epub 2013 Sep 25.
7
Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
Circ Cardiovasc Genet. 2013 Jun;6(3):279-89. doi: 10.1161/CIRCGENETICS.113.000138.
8
The long QT syndrome: a transatlantic clinical approach to diagnosis and therapy.
Eur Heart J. 2013 Oct;34(40):3109-16. doi: 10.1093/eurheartj/eht089. Epub 2013 Mar 18.
9
Calmodulin mutations associated with recurrent cardiac arrest in infants.
Circulation. 2013 Mar 5;127(9):1009-17. doi: 10.1161/CIRCULATIONAHA.112.001216. Epub 2013 Feb 6.
10
Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death.
Am J Hum Genet. 2012 Oct 5;91(4):703-12. doi: 10.1016/j.ajhg.2012.08.015.
Zotero 插件