Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
about
A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylationLong-QT syndrome: from genetics to managementMolecular pathogenesis of long QT syndrome type 1Recent advances in genetic testing and counseling for inherited arrhythmiasChannelopathies - emerging trends in the management of inherited arrhythmiasCongenital Long QT Syndrome: An Update and Present Perspective in Saudi Arabia.Sudden cardiac death prediction and prevention: report from a National Heart, Lung, and Blood Institute and Heart Rhythm Society Workshop.High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeationMutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.Risk stratification in electrical cardiomyopathies.Risk stratification in young patients with channelopathies.Prevalence and spectrum of large deletions or duplications in the major long QT syndrome-susceptibility genes and implications for long QT syndrome genetic testingUse of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.Risk of syncope in family members who are genotype-negative for a family-associated long-QT syndrome mutationCombined assessment of sex- and mutation-specific information for risk stratification in type 1 long QT syndromeGenetic testing of inherited arrhythmias.Mutation location effect on severity of phenotype during exercise testing in type 1 long-QT syndrome: impact of transmembrane and C-loop location.Congenital long QT syndrome with compound mutations in the KCNH2 gene.Genotype-specific risk stratification and management of patients with long QT syndrome.Long QT syndrome in South Africa: the results of comprehensive genetic screening.Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.Effect of beta-blockers on QT dynamics in the long QT syndrome: measuring the benefit.Genetics of long QT syndrome.Long-QT Syndrome and Therapy for Attention Deficit/Hyperactivity Disorder.Long QT syndrome: how effective therapy in a single patient favorably influenced the long-term clinical course and genetic understanding of this hereditary disorder.Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.Clinical Aspects of Type 3 Long-QT Syndrome: An International Multicenter StudyOf founder populations, long QT syndrome, and destiny.Genotype-phenotype aspects of type 2 long QT syndrome.Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia.A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case reportKCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.Impact of genetics on the clinical management of channelopathies.Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.Short and long QT syndromes: does QT length really matter?Genetics of sudden cardiac death.Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.
P2860
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P2860
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
description
2007 nî lūn-bûn
@nan
2007 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2007 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2007年の論文
@ja
2007年論文
@yue
2007年論文
@zh-hant
2007年論文
@zh-hk
2007年論文
@zh-mo
2007年論文
@zh-tw
2007年论文
@wuu
name
Clinical aspects of type-1 lon ...... ions involving the KCNQ1 gene.
@ast
Clinical aspects of type-1 lon ...... ions involving the KCNQ1 gene.
@en
type
label
Clinical aspects of type-1 lon ...... ions involving the KCNQ1 gene.
@ast
Clinical aspects of type-1 lon ...... ions involving the KCNQ1 gene.
@en
prefLabel
Clinical aspects of type-1 lon ...... ions involving the KCNQ1 gene.
@ast
Clinical aspects of type-1 lon ...... ions involving the KCNQ1 gene.
@en
P2093
P2860
P50
P1433
P1476
Clinical aspects of type-1 lon ...... ions involving the KCNQ1 gene.
@en
P2093
Arthur J Moss
Elizabeth S Kaufman
G Michael Vincent
Ilan Goldenberg
Jennifer L Robinson
Mark L Andrews
Michael J Ackerman
Nynke Hofman
Rahul Seth
P2860
P304
P356
10.1161/CIRCULATIONAHA.106.665406
P407
P577
2007-04-30T00:00:00Z