The genetic basis of long QT and short QT syndromes: a mutation update (Q28262724)

Europe PubMed Central

title

The genetic basis of long QT and short QT syndromes: a mutation update (English)

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Paula L Hedley

1

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Jorgen K. Kanters

7

object named as

Jørgen K Kanters

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author name string

Poul Jørgensen

2

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Sarah Schlamowitz

3

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Romilda Wangari

4

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Johanna Moolman-Smook

5

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Paul A Brink

6

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Valerie A Corfield

8

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Michael Christiansen

MiRP1 forms IKr potassium channels with HERG and is associated with cardiac arrhythmia

9

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language of work or name

English

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publication date

November 2009

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published in

Human Mutation

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volume

30

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page(s)

1486-511

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issue

11

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cites work

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The three human syntrophin genes are expressed in diverse tissues, have distinct chromosomal locations, and each bind to dystrophin and its relatives

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Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia

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A novel mutation in KCNQ1 associated with a potent dominant negative effect as the basis for the LQT1 form of the long QT syndrome.

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QT interval variables from 24 hour electrocardiography and the two year risk of sudden death

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Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits

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KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes

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Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism

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Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels

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Prevalence and prognostic significance of short QT interval in a middle-aged Finnish population

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Electrocardiographic transmural dispersion of repolarization in patients with inherited short QT syndrome

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Role of spatial dispersion of repolarization in inherited and acquired sudden cardiac death syndromes.

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Heterogeneity and cardiac arrhythmias: an overview.

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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death

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7 January 2021

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome

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7 January 2021

Phospholipid lysophosphatidylcholine as a metabolic trigger and HERG as an ionic pathway for extracellular K accumulation and "short QT syndrome" in acute myocardial ischemia

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7 January 2021

Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome

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7 January 2021

The cardiac sodium channel: gating function and molecular pharmacology

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A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.

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A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response

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7 January 2021

K(V)LQT1 and lsK (minK) proteins associate to form the I(Ks) cardiac potassium current

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7 January 2021

Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes

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7 January 2021

Sparks, signals and shock absorbers: how dystrophin loss causes muscular dystrophy

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7 January 2021

A Candidate Locus Approach Identifies a Long QT Syndrome Gene Mutation

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7 January 2021

Sudden arrhythmic death syndrome: familial evaluation identifies inheritable heart disease in the majority of families.

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7 January 2021

Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

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7 January 2021

A common antitussive drug, clobutinol, precipitates the long QT syndrome 2

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7 January 2021

A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation

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7 January 2021

Molecular mechanism for an inherited cardiac arrhythmia

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7 January 2021

Missense mutation in the pore region of HERG causes familial long QT syndrome

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7 January 2021

Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers

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7 January 2021

Macromolecular complexes regulating cardiac ryanodine receptor function.

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C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence

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7 January 2021

Contribution of long-QT syndrome genes to sudden infant death syndrome: is it time to consider newborn electrocardiographic screening?

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7 January 2021

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease

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7 January 2021

A single Na(+) channel mutation causing both long-QT and Brugada syndromes

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7 January 2021

Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome

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7 January 2021

Short QT syndrome and arrhythmogenic cardiac diseases in the young: the challenge of implantable cardioverter-defibrillator therapy for children.

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7 January 2021

Interaction of nitric oxide synthase with the postsynaptic density protein PSD-95 and alpha1-syntrophin mediated by PDZ domains

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7 January 2021

Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population

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7 January 2021

Sudden death associated with short-QT syndrome linked to mutations in HERG.

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7 January 2021

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Channelopathies: a new category of diseases causing sudden death

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7 January 2021

Characteristics of cardiac action potentials in marsupials

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7 January 2021

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

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7 January 2021

Structure and regulation of voltage-gated Ca2+ channels

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7 January 2021

Voltage sensors in domains III and IV, but not I and II, are immobilized by Na+ channel fast inactivation

1 reference

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7 January 2021

A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia

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7 January 2021

Long QT syndrome-associated mutations in the Per-Arnt-Sim (PAS) domain of HERG potassium channels accelerate channel deactivation.

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7 January 2021

Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome.

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7 January 2021

KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death

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7 January 2021

KCNQ1 gain-of-function mutation in familial atrial fibrillation

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7 January 2021

Mutation of an A-kinase-anchoring protein causes long-QT syndrome

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7 January 2021

Digitalis administration: an underappreciated but common cause of short QT interval

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7 January 2021

Torsades de pointes complicating atrioventricular block: evidence for a genetic predisposition

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7 January 2021

Localization of a potassium channel gene (KCNE1) to 21q22.1-q22.2 by in situ hybridization and somatic cell hybridization

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7 January 2021

G-protein coupled receptors in lipid rafts and caveolae: how, when and why do they go there?

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7 January 2021

C-terminal HERG (LQT2) mutations disrupt IKr channel regulation through 14-3-3epsilon.

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7 January 2021

Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes

1 reference

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7 January 2021

Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias

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7 January 2021

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk

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7 January 2021

Mutations in the HERG K+-ion channel: A novel link between long QT syndrome and sudden infant death syndrome

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7 January 2021

Postmortem molecular screening in unexplained sudden death.

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7 January 2021

Long QT and Brugada syndrome gene mutations in New Zealand

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7 January 2021

Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome

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7 January 2021

Multiple determinants in voltage-dependent P/Q calcium channels control their retention in the endoplasmic reticulum

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7 January 2021

Evaluation of denaturing high performance liquid chromatography for the mutational analysis of the MEN1 gene

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7 January 2021

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3

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7 January 2021

KCNH2-K897T is a genetic modifier of latent congenital long-QT syndrome

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7 January 2021

Congenital long QT syndrome

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7 January 2021

Cardiac ankyrins: Essential components for development and maintenance of excitable membrane domains in heart

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7 January 2021

Exon organization and novel alternative splicing of the human ANK2 gene: implications for cardiac function and human cardiac disease

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7 January 2021

A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome

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7 January 2021

The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.

1 reference

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7 January 2021

Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Evidence of a long QT founder gene with varying phenotypic expression in South African families

1 reference

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7 January 2021

Genetic and functional linkage of Kir5.1 and Kir2.1 channel subunits

1 reference

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7 January 2021

Biophysical characteristics of a new mutation on the KCNQ1 potassium channel (L251P) causing long QT syndrome

1 reference

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7 January 2021

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Multiple mechanisms of Na+ channel--linked long-QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiac sodium channel mutation in atrial fibrillation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Loss-of-function mutations of the K(+) channel gene KCNJ2 constitute a rare cause of long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Structure and function of voltage-dependent sodium channels: comparison of brain II and cardiac isoforms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The Use of Denaturing High-Performance Liquid Chromatography (DHPLC) for the Analysis of Genetic Variations: Impact for Diagnostics and Pharmacogenetics

1 reference

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7 January 2021

Molecular and muscle pathology in a series of caveolinopathy patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Assessment of QT intervals and prevalence of short QT syndrome in Japan.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Caveolae and caveolin-3 in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiac sodium channel Nav1.5 is regulated by a multiprotein complex composed of syntrophins and dystrophin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Primary structure and functional expression of the human cardiac tetrodotoxin-insensitive voltage-dependent sodium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Assignment of the human heart tetrodotoxin-resistant voltage-gated Na+ channel alpha-subunit gene (SCN5A) to band 3p21.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Clinical course and risk stratification of patients affected with the Jervell and Lange-Nielsen syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

https://api.crossref.org/works/10.1002%2FHUMU.21106

1 reference

7 January 2021

New KCNQ1 mutations leading to haploinsufficiency in a general population; Defective trafficking of a KvLQT1 mutant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Identifying drug-induced repolarization abnormalities from distinct ECG patterns in congenital long QT syndrome: a study of sotalol effects on T-wave morphology.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Simulation of Ca-calmodulin-dependent protein kinase II on rabbit ventricular myocyte ion currents and action potentials

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Idiopathic short QT interval: a new clinical syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Deficient zebrafish ether-à-go-go-related gene channel gating causes short-QT syndrome in zebrafish reggae mutants.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Probucol aggravates long QT syndrome associated with a novel missense mutation M124T in the N-terminus of HERG.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The genetic basis of Brugada syndrome: a mutation update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The potential of electrophoretic mobility shift assays for clinical mutation detection

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

High-efficiency multiplex capillary electrophoresis single strand conformation polymorphism (multi-CE-SSCP) mutation screening of SCN5A: a rapid genetic approach to cardiac arrhythmia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

DHPLC mutation analysis of the hereditary nonpolyposis colon cancer (HNPCC) genes hMLH1 and hMSH2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Homozygous premature truncation of the HERG protein : the human HERG knockout.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Function, subcellular localization and assembly of a novel mutation of KCNJ2 in Andersen's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Structural insight into KCNQ (Kv7) channel assembly and channelopathy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Phosphorylation of serine 1928 in the distal C-terminal domain of cardiac CaV1.2 channels during beta1-adrenergic regulation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A double-point mutation in the selectivity filter site of the KCNQ1 potassium channel results in a severe phenotype, LQT1, of long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Identification and functional characterization of a novel KCNE2 (MiRP1) mutation that alters HERG channel kinetics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

New missense mutation (G626V) in the predicted selectivity filter of the HERG channel associated with familial long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel KCNQ1 and HERG missense mutations in Dutch long-QT families

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Drug-induced long QT and torsade de pointes: recent advances

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

T wave morphology analysis distinguishes between KvLQT1 and HERG mutations in long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome genotyping by electrocardiography: fact, fiction, or something in between?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

T(peak)T(end) interval in long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutation-specific pharmacology of the long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Electrocardiographic Prediction of Abnormal Genotype in Congenital Long QT Syndrome: Experience in 101 Related Family Members

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Images in cardiovascular medicine. Life-threatening neonatal arrhythmia: successful treatment and confirmation of clinically suspected extreme long QT-syndrome-3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A patient with "atrial torsades de pointes"

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sodium channel inactivation is altered by substitution of voltage sensor positive charges

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sodium channel activation gating is affected by substitutions of voltage sensor positive charges in all four domains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome caused by a large duplication in the KCNH2 (HERG) gene undetectable by current polymerase chain reaction-based exon-scanning methodologies.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel mutation in KVLQT1, L122P, found in a family with autosomal dominant long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Primary structure and functional expression of a mouse inward rectifier potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Regulatory actions of the A-kinase anchoring protein Yotiao on a heart potassium channel downstream of PKA phosphorylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A single strand conformation polymorphism/heteroduplex (SSCP/HD) method for detection of mutations in 15 exons of the KVLQT1 gene, associated with long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome with a high mortality rate caused by a novel G572R missense mutation in KCNH2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Recent developments in high-throughput mutation screening

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Dysfunction in ankyrin-B-dependent ion channel and transporter targeting causes human sinus node disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel gain-of-function mechanism in K(+) channel-related long-QT syndrome: altered gating and selectivity in the HERG1 N629D mutant.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

New mutations in the KVLQT1 potassium channel that cause long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characteristics of the delayed rectifier current (IKr and IKs) in canine ventricular epicardial, midmyocardial, and endocardial myocytes. A weaker IKs contributes to the longer action potential of the M cell

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Comparison of cloned Kir2 channels with native inward rectifier K+ channels from guinea-pig cardiomyocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Potassium channel block by cytoplasmic polyamines as the mechanism of intrinsic rectification

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Inward rectifiers in the heart: an update on I(K1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Expression and transcriptional control of human KCNE genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Homozygous SCN5A mutation in long-QT syndrome with functional two-to-one atrioventricular block

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characterization of a novel Long QT syndrome mutation G52R-KCNE1 in a Chinese family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Drug-induced long-QT syndrome associated with a subclinical SCN5A mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Gene assignment by polymerase chain reaction: localization of the human potassium channel IsK gene to the Down's syndrome region of chromosome 21q22.1-q22.2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Association of torsades de pointes with novel and known single nucleotide polymorphisms in long QT syndrome genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Potential role of QT interval prolongation in sudden infant death syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Targeting of ion channels to membrane microdomains: localization of KV channels to lipid rafts.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Multiple Kv1.5 targeting to membrane surface microdomains

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

AKAP signaling complexes: getting to the heart of the matter

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A minK-HERG complex regulates the cardiac potassium current I(Kr)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

SCN5A mutation associated with dilated cardiomyopathy, conduction disorder, and arrhythmia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Caveolin-3 in muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A critical role for the S4-S5 intracellular loop in domain IV of the sodium channel alpha-subunit in fast inactivation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KCNE regulation of KvLQT1 channels: structure-function correlates

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Recurrent third-trimester fetal loss and maternal mosaicism for long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Association of neuronal nitric oxide synthase (nNOS) with alpha1-syntrophin at the sarcolemma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The long QT syndrome family of cardiac ion channelopathies: a HuGE review

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A COMPUTER MODEL OF ATRIAL FIBRILLATION.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A cardiac arrhythmia syndrome caused by loss of ankyrin-B function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Ankyrin-based cardiac arrhythmias: a new class of channelopathies due to loss of cellular targeting

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Defining the cellular phenotype of "ankyrin-B syndrome" variants: human ANK2 variants associated with clinical phenotypes display a spectrum of activities in cardiomyocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Atrial fibrillation and atrial vulnerability in patients with Brugada syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The QT syndromes: long and short

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Two cases of short QT interval.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

ECG T-wave patterns in genetically distinct forms of the hereditary long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Molecular cloning and sequence analysis of human genomic DNA encoding a novel membrane protein which exhibits a slowly activating potassium channel activity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiac Sodium Channel Diseases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Inward rectification and implications for cardiac excitability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KCNQ1/KCNE1 potassium channels in mammalian vestibular dark cells

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Abrupt rate accelerations or premature beats cause life-threatening arrhythmias in mice with long-QT3 syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

N- and C-terminal KCNE1 mutations cause distinct phenotypes of long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sodium channel mutations and susceptibility to heart failure and atrial fibrillation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Regulation of caveolar cardiac sodium current by a single Gsalpha histidine residue.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Slowed conduction and ventricular tachycardia after targeted disruption of the cardiac sodium channel gene Scn5a

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Impaired KCNQ1-KCNE1 and phosphatidylinositol-4,5-bisphosphate interaction underlies the long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Pharmacological approach to the treatment of long and short QT syndromes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutation analysis in congenital Long QT Syndrome--a case with missense mutations in KCNQ1 and SCN5A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel mutation in human ether-a-go-go-related gene, alanine to proline at position 490, found in a large family with autosomal dominant long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Homozygosity for a HERG potassium channel mutation causes a severe form of long QT syndrome: identification of an apparent founder mutation in the Finns

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A recessive variant of the Romano-Ward long-QT syndrome?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Low penetrance in the long-QT syndrome: clinical impact

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Risk stratification in the long-QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Role of genetic analyses in cardiology: part I: mendelian diseases: cardiac channelopathies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Gain of function in IKs secondary to a mutation in KCNE5 associated with atrial fibrillation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Inwardly rectifying potassium channels.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiac sodium channel overlap syndromes: different faces of SCN5A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiac potassium channel dysfunction in sudden infant death syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genetics of acquired long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome: reduced repolarization reserve and the genetic link

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel mutation in the Per-Arnt-Sim domain of KCNH2 causes a malignant form of long-QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Gating Properties of SCN5A Mutations and the Response to Mexiletine in Long-QT Syndrome Type 3 Patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KVLQT1 mutations in three families with familial or sporadic long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Structural heart disease, SCN5A gene mutations, and Brugada syndrome: a complex ménage à trois

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Coassembly of K(V)LQT1 and minK (IsK) proteins to form cardiac I(Ks) potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Andersen's syndrome: A distinct periodic paralysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Congenital short QT syndrome and implantable cardioverter defibrillator treatment: inherent risk for inappropriate shock delivery

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Short QT syndrome: successful prevention of sudden cardiac death in an adolescent by implantable cardioverter-defibrillator treatment for primary prophylaxis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

In vivo effects of mutant HERG K+ channel inhibition by disopyramide in patients with a short QT-1 syndrome: a pilot study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The novel C-terminal KCNQ1 mutation M520R alters protein trafficking.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Autosomal recessive long-QT syndrome (Jervell Lange-Nielsen syndrome) is genetically heterogeneous

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KCNE1 mutations cause jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel long-QT 5 gene mutation in the C-terminus (V109I) is associated with a mild phenotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Idiopathic long QT syndrome: progress and questions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Diagnostic criteria for the long QT syndrome. An update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Prolongation of the QT interval and the sudden infant death syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A molecular link between the sudden infant death syndrome and the long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

How really rare are rare diseases?: the intriguing case of independent compound mutations in the long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Left cardiac sympathetic denervation in the management of high-risk patients affected by the long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The congenital long QT syndromes from genotype to phenotype: clinical implications

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Neural Control of Heart Rate Is an Arrhythmia Risk Modifier in Long QT Syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutation of colocalized residues of the pore helix and transmembrane segments S5 and S6 disrupt deactivation and modify inactivation of KCNQ1 K+ channels.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A common polymorphism associated with antibiotic-induced cardiac arrhythmia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel splice mutation of HERG in a Chinese family with long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Targeted mutational analysis of ankyrin-B in 541 consecutive, unrelated patients referred for long QT syndrome genetic testing and 200 healthy subjects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The cardiac sodium channel mutation delQKP 1507-1509 is associated with the expanding phenotypic spectrum of LQT3, conduction disorder, dilated cardiomyopathy, and high incidence of youth sudden death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Gene sequencing in neonates and infants with the long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Effects of a K(+) channel opener to reduce transmural dispersion of repolarization and prevent torsade de pointes in LQT1, LQT2, and LQT3 models of the long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

T-peak to T-end interval may be a better predictor of high-risk patients with hypertrophic cardiomyopathy associated with a cardiac troponin I mutation than QT dispersion.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Role of an inwardly rectifying potassium current in rabbit ventricular action potential

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Distribution of M cells in the canine ventricle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Lipid rafts and signal transduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The roles of the subunits in the function of the calcium channel.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Anchored cAMP signaling: onward and upward - a short history of compartmentalized cAMP signal transduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Structural models for the KCNQ1 voltage-gated potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genomic structure of human L-type Ca2+ channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Expression of caveolin-3 in skeletal, cardiac, and smooth muscle cells. Caveolin-3 is a component of the sarcolemma and co-fractionates with dystrophin and dystrophin-associated glycoproteins

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Molecular basis of the long-QT syndrome associated with deafness.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutations in the hminK gene cause long QT syndrome and suppress IKs function

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

How proteins move lipids and lipids move proteins.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Classification of the long-QT syndrome based on discriminant analysis of T-wave morphology.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A sodium-channel mutation causes isolated cardiac conduction disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sympathetic stimulation produces a greater increase in both transmural and spatial dispersion of repolarization in LQT1 than LQT2 forms of congenital long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Transcript scanning reveals novel and extensive splice variations in human l-type voltage-gated calcium channel, Cav1.2 alpha1 subunit.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

High-throughput single-strand conformation polymorphism analysis on a microfabricated capillary array electrophoresis device

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Jervell and Lange-Nielsen syndrome: A Norwegian perspective

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

HERG, a human inward rectifier in the voltage-gated potassium channel family

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Isolation and chromosomal localization of a novel nonerythroid ankyrin gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Differential modulation of late sodium current by protein kinase A in R1623Q mutant of LQT3.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

IsK and KvLQT1: mutation in either of the two subunits of the slow component of the delayed rectifier potassium channel can cause Jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel SCN5A arrhythmia mutation, M1766L, with expression defect rescued by mexiletine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Inward rectification of a potassium channel in cardiac ventricular cells depends on internal magnesium ions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Structure of a complex between a voltage-gated calcium channel beta-subunit and an alpha-subunit domain.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

PI3K promotes voltage-dependent calcium channel trafficking to the plasma membrane

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characterization of human cardiac Na+ channel mutations in the congenital long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Genomic organization of the human SCN5A gene encoding the cardiac sodium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Differential distribution of inward rectifier potassium channel transcripts in human atrium versus ventricle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Highly variable mRNA expression and splicing of L-type voltage-dependent calcium channel alpha subunit 1C in human heart tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cardiac sodium channel dysfunction in sudden infant death syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

De novo mutation in the SCN5A gene associated with early onset of sudden infant death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A novel mutation L619F in the cardiac Na+ channel SCN5A associated with long-QT syndrome (LQT3): a role for the I-II linker in inactivation gating

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Novel KCNQ1 mutations associated with recessive and dominant congenital long QT syndromes: evidence for variable hearing phenotype associated with R518X.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Compound mutations: a common cause of severe long-QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Regulation of NMDA receptors by an associated phosphatase-kinase signaling complex

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cloning and characterization of a cDNA encoding an A-kinase anchoring protein located in the centrosome, AKAP450

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characterization of an LQT5-related mutation in KCNE1, Y81C: implications for a role of KCNE1 cytoplasmic domain in IKs channel function.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

T wave peak-to-end interval and QT dispersion in acquired long QT syndrome: a new index for arrhythmogenicity

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Determination of the subunit stoichiometry of an inwardly rectifying potassium channel

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Molecular basis of charge movement in voltage-gated sodium channels

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

KvLQT1, a voltage-gated potassium channel responsible for human cardiac arrhythmias

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Human KCNQ1 S140G mutation is associated with atrioventricular blocks

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Post-translational modifications guard yeast from misaspartylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Bradycardia-induced long QT syndrome caused by a de novo missense mutation in the S2-S3 inner loop of HERG.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Sodium channel beta4, a new disulfide-linked auxiliary subunit with similarity to beta2

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

DNA mutation detection using denaturing high-performance liquid chromatography (DHPLC).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Influence of the genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

The consequences of disrupting cardiac inwardly rectifying K(+) current (I(K1)) as revealed by the targeted deletion of the murine Kir2.1 and Kir2.2 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Identification and characterisation of a novel KCNQ1 mutation in a family with Romano-Ward syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Skipping of Exon 1 in the KCNQ1 gene causes Jervell and Lange-Nielsen syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

An intronic mutation causes long QT syndrome.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Repolarisation and vulnerability to re-entry in the human heart with short QT syndrome arising from KCNQ1 mutation--a simulation study

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Cost-effectiveness and implications of newborn screening for prolongation of QT interval for the prevention of sudden infant death syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

I(NaCa) contributes to electrical heterogeneity within the canine ventricle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021

Larger late sodium conductance in M cells contributes to electrical heterogeneity in canine ventricle

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21106

7 January 2021