×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
Biomarker
GENOMICS_ENGLAND
Emerging therapeutic targets in the short QT syndrome.
29697308
2018
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
Biomarker
GENOMICS_ENGLAND
Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.
29097701
2017
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
25705178
2015
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
A molecular mechanism for adrenergic-induced long QT syndrome.
24184248
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.
25037568
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Mutations in KCNQ1 , encoding for Kv7.1, the α-subunit of the IKs channel, cause long-QT syndrome type 1 , potentially predisposing patients to ventricular tachyarrhythmias and sudden cardiac death, in particular, during elevated sympathetic tone.
25139741
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
We identified a multigenerational LQT1 family whereby 79% of the patients genotype-positive for p.Ile235Asn-KCNQ1 (I235N-Kv7.1) have concealed LQT1 .
24269949
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
A590T mutation in KCNQ1 C-terminal helix D decreases IKs channel trafficking and function but not Yotiao interaction.
24713462
2014
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
21241800
2011
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Biophysical characterization of KCNQ1 P320 mutations linked to long QT syndrome 1 .
19540844
2010
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
19716085
2009
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
19808498
2009
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.
18400097
2008
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
18165683
2008
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
16922724
2006
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
16414944
2005
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
15840476
2005
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
Biomarker
CTD_human
To determine whether the neonatal mouse can serve as a useful model for studying the molecular pharmacological basis of Long QT Syndrome Type 1 (LQT1 ), which has been linked to mutations in the human KCNQ1 gene, we measured QT intervals from electrocardiogram (ECG) recordings of wild-type (WT) and Kcnq1 knockout (KO) neonates before and after injection with the beta-adrenergic receptor agonist, isoproterenol (0.17 mg/kg, i.p.).
15004216
2004
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Requirement of a macromolecular signaling complex for beta adrenergic receptor modulation of the KCNQ1-KCNE1 potassium channel.
11799244
2002
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
12442276
2002
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.
10728423
2000
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Five genes have been implicated in Romano-Ward syndrome , the autosomal dominant form of LQTS: KVLQT1 , HERG, SCN5A, KCNE1, and KCNE2.
10973849
2000
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
10220144
1999
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
10482963
1999
×
Entrez Id:
3784
Gene Symbol:
KCNQ1
KCNQ1
Long QT Syndrome 1
1.000
GeneticVariation
UNIPROT
[Congenital long QT syndrome. The value of genetics in prognostic evaluation].
10367071
1999