Calmodulin mutations associated with recurrent cardiac arrest in infants.
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Exome sequencing identifies a mutation in the ACTN2 gene in a family with idiopathic ventricular fibrillation, left ventricular noncompaction, and sudden deathGenetics of inherited primary arrhythmia disordersCalmodulin regulation (calmodulation) of voltage-gated calcium channelsIon Channels in the HeartTowards a Unified Theory of Calmodulin Regulation (Calmodulation) of Voltage-Gated Calcium and Sodium ChannelsCa(2+) current facilitation is CaMKII-dependent and has arrhythmogenic consequencesRecent advances in genetic testing and counseling for inherited arrhythmiasMutations in filamin C cause a new form of familial hypertrophic cardiomyopathyCharacterization of phospho-(tyrosine)-mimetic calmodulin mutantsArrhythmogenic calmodulin mutations impede activation of small-conductance calcium-activated potassium currentSpectrum 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, E141GNovel CPVT-Associated Calmodulin Mutation in CALM3 (CALM3-A103V) Activates Arrhythmogenic Ca Waves and Sparks.TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVTElectrophysiological mechanisms of long and short QT syndromes.Novel calmodulin mutations associated with congenital arrhythmia susceptibility.Genetics of long QT syndrome.Calmodulin mutations causing catecholaminergic polymorphic ventricular tachycardia confer opposing functional and biophysical molecular changes.TRPM4 non-selective cation channel variants in long QT syndrome.Deleterious protein-altering mutations in the SCN10A voltage-gated sodium channel gene are associated with prolonged QT.Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndromeNovel CALM3 mutations in pediatric long QT syndrome patients support a CALM3-specific calmodulinopathy.Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.Impact of genetics on the clinical management of channelopathies.Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.CALM3 mutation associated with long QT syndromeDiseases caused by mutations in Nav1.5 interacting proteinsInherited arrhythmia syndromes leading to sudden cardiac death in the young: a global update and an Indian perspective.Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.Functional role of voltage gated Ca(2+) channels in heart automaticity.Molecular cloning and expression of the calmodulin gene from guinea pig hearts.mTOR signaling in mice with dysfunctional cardiac ryanodine receptor ion channel.Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical DisordersReduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks.Conserved properties of individual Ca2+-binding sites in calmodulinGenetic investigations of sudden unexpected deaths in infancy using next-generation sequencing of 100 genes associated with cardiac diseases.Post-mortem Whole exome sequencing with gene-specific analysis for autopsy-negative sudden unexplained death in the young: a case series.In utero diagnosis of long QT syndrome by magnetocardiography.The Arrhythmogenic Calmodulin p.Phe142Leu Mutation Impairs C-domain Ca2+ Binding but Not Calmodulin-dependent Inhibition of the Cardiac Ryanodine ReceptorGenotype- and phenotype-guided management of congenital long QT syndrome.Modeling susceptibility to drug-induced long QT with a panel of subject-specific induced pluripotent stem cells.
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Calmodulin mutations associated with recurrent cardiac arrest in infants.
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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 06 February 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
Calmodulin mutations associated with recurrent cardiac arrest in infants.
@en
Calmodulin mutations associated with recurrent cardiac arrest in infants.
@nl
type
label
Calmodulin mutations associated with recurrent cardiac arrest in infants.
@en
Calmodulin mutations associated with recurrent cardiac arrest in infants.
@nl
prefLabel
Calmodulin mutations associated with recurrent cardiac arrest in infants.
@en
Calmodulin mutations associated with recurrent cardiac arrest in infants.
@nl
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P2860
P50
P1433
P1476
Calmodulin mutations associated with recurrent cardiac arrest in infants.
@en
P2093
Alfred L George
Bettina F Cuneo
Britt-Maria Beckmann
Christian Shaffer
Christopher N Johnson
D Woodrow Benson
Elisabeth Graf
Gaetano M De Ferrari
Jennifer D Kunic
John Papagiannis
P2860
P304
P356
10.1161/CIRCULATIONAHA.112.001216
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P577
2013-02-06T00:00:00Z