Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
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Genetics of bipolar disorderTowards a Unified Theory of Calmodulin Regulation (Calmodulation) of Voltage-Gated Calcium and Sodium ChannelsPro-arrhythmogenic effects of CACNA1C G1911R mutation in human ventricular tachycardia: insights from cardiac multi-scale modelsCalcium Channel Mutations in Cardiac Arrhythmia SyndromesLong QT syndrome type 8: novel CACNA1C mutations causing QT prolongation and variant phenotypesExome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting GenesIdentification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals With Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death.Genetics of long QT syndrome.Whole-exome sequencing identifies Y1495X of SCN5A to be associated with familial conduction disease and sudden death.A CACNA1C variant associated with reduced voltage-dependent inactivation, increased CaV1.2 channel window current, and arrhythmogenesis.Whole-exome sequencing in familial atrial fibrillation.CALM3 mutation associated with long QT syndromeArrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivationPost-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.Novel Timothy syndrome mutation leading to increase in CACNA1C window current.FGF12 is a candidate Brugada syndrome locus.Recent genetic discoveries implicating ion channels in human cardiovascular diseasesCardiac Channelopathies and Sudden Death: Recent Clinical and Genetic AdvancesGenetics of sudden cardiac death caused by ventricular arrhythmias.Genetics of long-QT syndrome.Applying Systems Biology Methodology To Identify Genetic Factors Possibly Associated with Recovery after Traumatic Brain Injury.Molecular and Functional Characterization of Rare CACNA1C Variants in Sudden Unexplained Death in the Young.Sudden cardiac death: focus on the genetics of channelopathies and cardiomyopathies.Clinical evaluation of R860Q semi-conservative amino acid substitution in CACNA1C gene in association with long QT syndrome.Computational Cardiac Modeling Reveals Mechanisms of Ventricular Arrhythmogenesis in Long QT Syndrome Type 8: CACNA1C R858H Mutation Linked to Ventricular Fibrillation.Genomic-based diagnosis of arrhythmia disease in a personalized medicine era.Refractory ventricular fibrillations after surgical repair of atrial septal defects in a patient with CACNA1C gene mutation - case report.The Cumulative Effects of the MYH7-V878A and CACNA1C-A1594V Mutations in a Chinese Family with Hypertrophic Cardiomyopathy.An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillationProarrhythmic Remodeling of Calcium Homeostasis in Cardiac Disease; Implications for Diabetes and ObesityMutations in voltage-gated L-type calcium channel: implications in cardiac arrhythmia
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Exome sequencing and systems biology converge to identify novel mutations in the L-type calcium channel, CACNA1C, linked to autosomal dominant long QT syndrome.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on June 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Exome sequencing and systems b ...... mal dominant long QT syndrome.
@en
Exome sequencing and systems b ...... mal dominant long QT syndrome.
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type
label
Exome sequencing and systems b ...... mal dominant long QT syndrome.
@en
Exome sequencing and systems b ...... mal dominant long QT syndrome.
@nl
prefLabel
Exome sequencing and systems b ...... mal dominant long QT syndrome.
@en
Exome sequencing and systems b ...... mal dominant long QT syndrome.
@nl
P2093
P2860
P1476
Exome sequencing and systems b ...... mal dominant long QT syndrome.
@en
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David J Tester
Jabe M Best
Jared M Evans
John R Giudicessi
Michael J Ackerman
Nicole J Boczek
Sumit Middha
Timothy J Kamp
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P304
P356
10.1161/CIRCGENETICS.113.000138
P577
2013-06-01T00:00:00Z