Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
about
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic testThe KCNQ1 channel - remarkable flexibility in gating allows for functional versatilityDevelopment and maintenance of ear innervation and function: lessons from mutations in mouse and man.Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis.KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.Functional characterization of a trafficking-defective HCN4 mutation, D553N, associated with cardiac arrhythmia.Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome.Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.Positive selection at codon 38 of the human KCNE1 (= minK) gene and sporadic absence of 38Ser-coding mRNAs in Gly38Ser heterozygotes.Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testingPrevalence of HCM and long QT syndrome mutations in young sudden cardiac death-related cases.Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.Long QT syndrome in South Africa: the results of comprehensive genetic screening.Mutation analysis of KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2 genes in Chinese patients with long QT syndrome.An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.The genetics of cardiac arrhythmias.A novel splice mutation of HERG in a Chinese family with long QT syndrome.The KCNQ1 potassium channel: from gene to physiological function.Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome.Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.The antihistamine fexofenadine does not affect I(Kr) currents in a case report of drug-induced cardiac arrhythmiaGenetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of SingaporeA novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.Association Between KCNQ1 Genetic Variants and Type 2 Diabetes in the Uyghur Population.Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.Dysfunctional potassium channel subunit interaction as a novel mechanism of long QT syndrome.Kv7.1 ion channels require a lipid to couple voltage sensing to pore opening.Genetic testing and genetic counseling in cardiovascular genetic medicine: overview and preliminary recommendations.In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs)Physiological properties of hERG 1a/1b heteromeric currents and a hERG 1b-specific mutation associated with Long-QT syndrome.Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.Cardiac potassium channel subtypes: new roles in repolarization and arrhythmia.A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency.Use of the newborn screening card to define cause of death in a 12-year-old diagnosed with epilepsy.Modulation of HERG gating by a charge cluster in the N-terminal proximal domain.Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndromeKCNQ1 channels do not undergo concerted but sequential gating transitions in both the absence and the presence of KCNE1 protein
P2860
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P2860
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
description
1998 nî lūn-bûn
@nan
1998 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
@ast
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
@en
type
label
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
@ast
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
@en
prefLabel
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
@ast
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
@en
P2093
P356
P1433
P1476
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
@en
P2093
G M Vincent
I Splawski
K W Timothy
M H Lehmann
M T Keating
P356
10.1006/GENO.1998.5361
P577
1998-07-01T00:00:00Z