SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
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Molecular and genetic basis of sudden cardiac deathThe RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading framThe ataxia3 mutation in the N-terminal cytoplasmic domain of sodium channel Na(v)1.6 disrupts intracellular traffickingA novel SCN5A mutation V1340I in Brugada syndrome augmenting arrhythmias during febrile illnessRisk stratification in electrical cardiomyopathies.A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutationsOverlapping LQT1 and LQT2 phenotype in a patient with long QT syndrome associated with loss-of-function variations in KCNQ1 and KCNH2Dominant-negative effect of SCN5A N-terminal mutations through the interaction of Na(v)1.5 α-subunitsRisk stratification and treatment of brugada syndrome.Disease-targeted sequencing of ion channel genes identifies de novo mutations in patients with non-familial Brugada syndromeBrugada Syndrome:Risk Stratification And Management.PATH-SCAN: a reporting tool for identifying clinically actionable variants.Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium currentTargeting device therapy: genomics of sudden death.Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.The β1-subunit of Na(v)1.5 cardiac sodium channel is required for a dominant negative effect through α-α interaction.Brugada syndrome risk loci seem protective against atrial fibrillation.J-Wave syndromes expert consensus conference report: Emerging concepts and gaps in knowledgeGenetics of Brugada syndrome.Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na currentHuman heart failure is associated with abnormal C-terminal splicing variants in the cardiac sodium channelA sodium channel pore mutation causing Brugada syndromeDevelopmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmiaA novel frequency analysis method for assessing K(ir)2.1 and Na (v)1.5 currents.Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarctionGenetic predisposition and cellular basis for ischemia-induced ST-segment changes and arrhythmias.Trafficking and cellular distribution of voltage-gated sodium channels.The primary arrhythmia syndromes: same mutation, different manifestations. Are we starting to understand why?Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification.Common candidate gene variants are associated with QT interval duration in the general population.Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect.Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction.Genetics and cardiac channelopathies.Genetics of sudden death: focus on inherited channelopathies.Genetic biomarkers in Brugada syndrome.Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature.RyR2 QQ2958 Genotype and Risk of Malignant Ventricular Arrhythmias
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P2860
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene.
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
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2006年论文
@zh-cn
name
SCN5A polymorphism restores tr ...... e mutation on a separate gene.
@en
type
label
SCN5A polymorphism restores tr ...... e mutation on a separate gene.
@en
prefLabel
SCN5A polymorphism restores tr ...... e mutation on a separate gene.
@en
P2093
P50
P1433
P1476
SCN5A polymorphism restores trafficking of a Brugada syndrome mutation on a separate gene
@en
P2093
Isabelle Deschênes
Lynn Dudash
Mariavittoria Pitzalis
Matteo Anaclerio
Melissa Samodell
Mohamed Chahine
Pietro Guida
Roberta Romito
Rossella Troccoli
Sandro Sorrentino
P304
P356
10.1161/CIRCULATIONAHA.105.601294
P407
P577
2006-07-24T00:00:00Z