Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
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Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndromeClinical and genetic determinants of torsade de pointes riskMolecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriersThe long QT syndrome family of cardiac ion channelopathies: a HuGE review.Depressive symptoms in the congenital long QT syndrome.Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testingLong QT syndrome in South Africa: the results of comprehensive genetic screening.High prevalence of four long QT syndrome founder mutations in the Finnish population.Of founder populations, long QT syndrome, and destiny.Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis.From Fifth Business to Protagonist: the complex roles of ion channel anchors in cardiac arrhythmia.Impact of genetics on the clinical management of channelopathies.Trafficking-deficient G572R-hERG and E637K-hERG activate stress and clearance pathways in endoplasmic reticulum.Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?A-kinase anchoring proteins: scaffolding proteins in the heart.Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell cultureComputational biology in the study of cardiac ion channels and cell electrophysiology.Pathophysiological role of omega pore current in channelopathiesEffects of cardioactive drugs on human induced pluripotent stem cell derived long QT syndrome cardiomyocytesMechanisms of human arrhythmia syndromes: abnormal cardiac macromolecular interactions.R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.Common candidate gene variants are associated with QT interval duration in the general population.Prevalence of arrhythmia-associated gene mutations and risk of sudden cardiac death in the Finnish population.Sudden unexpected death in epilepsy genetics: Molecular diagnostics and preventionLQT2 nonsense mutations generate trafficking defective NH2-terminally truncated channels by the reinitiation of translation.AKAP-scaffolding proteins and regulation of cardiac physiology.Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndromecAMP signal transduction in the heart: understanding spatial control for the development of novel therapeutic strategies.Genomic biomarkers of SUDEP in brain and heart.Post-mortem review and genetic analysis of sudden unexpected death in epilepsy (SUDEP) cases.Distinct electrophysiological and mechanical beating phenotypes of long QT syndrome type 1-specific cardiomyocytes carrying different mutations.Brief report: Emotional distress and recent stressful life events in long QT syndrome mutation carriers.Is Symptomatic Long QT Syndrome Associated with Depression in Women and Men?The effect of antihistamine cetirizine on ventricular repolarization in congenital long QT syndrome.Stress proneness in molecularly defined long QT syndrome: a study using temperament assessment by behavioural inhibition system scale.Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.The role and mechanism of chaperones Calnexin/Calreticulin in which ALLN selectively rescues the trafficking defective of HERG-A561V mutation
P2860
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P2860
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年学术文章
@wuu
2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
2004年学术文章
@zh-sg
2004年學術文章
@yue
2004年學術文章
@zh-hant
name
Four potassium channel mutatio ...... ong founder effect in Finland.
@en
Four potassium channel mutatio ...... um underlying long-QT syndrome
@nl
type
label
Four potassium channel mutatio ...... ong founder effect in Finland.
@en
Four potassium channel mutatio ...... um underlying long-QT syndrome
@nl
prefLabel
Four potassium channel mutatio ...... ong founder effect in Finland.
@en
Four potassium channel mutatio ...... um underlying long-QT syndrome
@nl
P2093
P2860
P1433
P1476
Four potassium channel mutatio ...... ong founder effect in Finland.
@en
P2093
Heidi Fodstad
Heikki Swan
Kimmo Kontula
Kirsi Piippo
Kristian Paavonen
Lauri Toivonen
Matti Viitasalo
Päivi Laitinen
P2860
P356
10.1080/17431380410032689
P407
P478
36 Suppl 1
P577
2004-01-01T00:00:00Z