Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
about
RYR2 sequencing reveals novel missense mutations in a Kazakh idiopathic ventricular tachycardia study cohortKCNE1 and KCNE3 beta-subunits regulate membrane surface expression of Kv12.2 K(+) channels in vitro and form a tripartite complex in vivoA cardiac arrhythmia syndrome caused by loss of ankyrin-B functionMechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndromeKCNE2 protein is more abundant in ventricles than in atria and can accelerate hERG protein degradation in a phosphorylation-dependent mannerGain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillationIdentification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.Ectopic expression of KCNE3 accelerates cardiac repolarization and abbreviates the QT intervalSpectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testStructural insight into KCNQ (Kv7) channel assembly and channelopathyMolecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndromeKCNE variants reveal a critical role of the beta subunit carboxyl terminus in PKA-dependent regulation of the IKs potassium channelDynamic partnership between KCNQ1 and KCNE1 and influence on cardiac IKs current amplitude by KCNE2Confirmation of associations between ion channel gene SNPs and QTc interval duration in healthy subjectsClinical applicability of molecular biology: the case of the long QT syndrome.Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 ComparisonGenetics of inherited primary arrhythmia disordersMink S38G gene polymorphism and atrial fibrillation in the Chinese population: a meta-analysis of 1871 participantsMolecular and genetic basis of sudden cardiac deathScorpion toxins specific for potassium (K+) channels: a historical overview of peptide bioengineeringTranslational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspectsClinical and genetic determinants of torsade de pointes riskDeterminants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromesHuman iPS cell model of type 3 long QT syndrome recapitulates drug-based phenotype correctionArtificial ligand binding within the HIF2 PAS-B domain of the HIF2 transcription factorStructure of the carboxy-terminal region of a KCNH channelCrystallographic basis for calcium regulation of sodium channelsStructure of the C-terminal region of an ERG channel and functional implicationsThe structural mechanism of KCNH-channel regulation by the eag domain.Molecular pathogenesis of long QT syndrome type 1Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A)Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriersSodium channel mutations and susceptibility to heart failure and atrial fibrillationChanges in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channelA molecular switch driving inactivation in the cardiac K+ channel HERGHexachlorophene is a potent KCNQ1/KCNE1 potassium channel activator which rescues LQTs mutantsPharmacologic Approach to Defective Protein Trafficking in the E637K-hERG Mutant with PD-118057 and ThapsigarginEvaluation of differences in automated QT/QTc measurements between Fukuda Denshi and Nihon Koden systemsCongenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Conformational changes of an ion-channel during gating and emerging electrophysiologic properties: Application of a computational approach to cardiac Kv7.1.
P2860
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P2860
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
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2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
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2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年論文
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2000年论文
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Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@ast
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@en
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@nl
type
label
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@ast
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@en
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@nl
prefLabel
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@ast
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@en
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@nl
P2093
P3181
P1433
P1476
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2
@en
P2093
G M Vincent
I Splawski
J A Towbin
J L Robinson
K W Timothy
M H Lehmann
M T Keating
P J Schwartz
P304
P3181
P356
10.1161/01.CIR.102.10.1178
P407
P577
2000-09-05T00:00:00Z