Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

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http://www.wikidata.org/entity/Q35798904
Transcriptome complexity in cardiac development and diseases--an expanding universe between genome and phenomeArrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome.Exome Sequencing Identifies a Novel LMNA Splice-Site Mutation and Multigenic Heterozygosity of Potential Modifiers in a Family with Sick Sinus Syndrome, Dilated Cardiomyopathy, and Sudden Cardiac DeathDominant negative consequences of a hERG 1b-specific mutation associated with intrauterine fetal death.Splicing misregulation of SCN5A contributes to cardiac-conduction delay and heart arrhythmia in myotonic dystrophy.In utero diagnosis of long QT syndrome by magnetocardiography.Calmodulin mutations associated with recurrent cardiac arrest in infants.Long QT syndrome-associated mutations in intrauterine fetal death.Ion channels under the sun.Cardiac sodium channelopathy associated with SCN5A mutations: electrophysiological, molecular and genetic aspects.Switch From Fetal to Adult SCN5A Isoform in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Unmasks the Cellular Phenotype of a Conduction Disease-Causing Mutation.Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome.Enhanced impact of SCN5A mutation associated with long QT syndrome in fetal splice isoform.'Neonatal' Nav1.2 reduces neuronal excitability and affects seizure susceptibility and behaviour.The congenital long QT syndrome Type 3: An update.Variants: Association With Cardiac Disorders
P2860

Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia

Item
http://www.wikidata.org/entity/Q35798904
description
2011 nî lūn-bûn
@nan
2011年の論文
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2011年論文
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2011年論文
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2011年論文
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2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
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2011年论文
@zh-cn
name
Developmentally regulated SCN5 ...... d with severe fetal arrhythmia
@ast
Developmentally regulated SCN5 ...... d with severe fetal arrhythmia
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type
label
Developmentally regulated SCN5 ...... d with severe fetal arrhythmia
@ast
Developmentally regulated SCN5 ...... d with severe fetal arrhythmia
@en
prefLabel
Developmentally regulated SCN5 ...... d with severe fetal arrhythmia
@ast
Developmentally regulated SCN5 ...... d with severe fetal arrhythmia
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Developmentally regulated SCN5 ...... d with severe fetal arrhythmia
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P2093
P2860
P304
P31
P356
10.1016/J.HRTHM.2011.11.006
P433
P478
P577
P5875
P698
P932