Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report a quantitative analysis by simulating cardiac action potentials of cultured human cardiomyocytes to match the experimental waveforms of both healthy control and LQT syndrome type 1 (LQT1) action potentials.
|
22745159 |
2012 |
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mechanisms of I(Ks) suppression in LQT1 mutants.
|
11087258 |
2000 |
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.
|
10560595 |
1999 |
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Identification of (R)-N-(4-(4-methoxyphenyl)thiazol-2-yl)-1-tosylpiperidine-2-carboxamide, ML277, as a novel, potent and selective K(v)7.1 (KCNQ1) potassium channel activator.
|
22910039 |
2012 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Long QT and Brugada syndrome gene mutations in New Zealand.
|
17905336 |
2007 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The 2 genes KCNQ1 (LQT1) and HERG (LQT2), encoding cardiac potassium channels, are the most common cause of the dominant long-QT syndrome (LQTS).
|
11222472 |
2001 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To explain the presence of LQTS segregating with the t(11;17) translocation in this family, we hypothesize that the translocation that interrupts KCNQ1 allow translation of an abnormal short allele that interferes in a dominant negative way with the normal isoform 1 of KCNQ1 in the heart (where this allele is not subject to parental imprint).
|
23061425 |
2013 |
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
|
9799083 |
1998 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Data on the Jervell and Lange-Nielsen syndrome (J-LN), the long-QT syndrome (LQTS) variant associated with deafness and caused by homozygous or compound heterozygous mutations on the KCNQ1 or on the KCNE1 genes encoding the I(Ks) current, are still based largely on case reports.
|
16461811 |
2006 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We previously identified a missense mutation F275S located within the S5 transmembrane domain of the KCNQ1 ion channel in a Chinese family with long QT syndrome.
|
19167356 |
2009 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We previously mapped three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7q35-36, and LQT3 on 3p21-24.
|
7889574 |
1995 |
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.
|
11668638 |
2001 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.
|
17227916 |
2007 |
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Recently, the genes for the LQTS inked to chromosomes 3 (LQT3), 7 (LQT2), and 11 (LQT1) were identified as SCN5A, the cardiac sodium channel gene and as HERG and KvLQT1 potassium channel genes.
|
9272507 |
1997 |
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
CTD_human |
Eighteen symptomatic LQTS patients (12 families) were genetically diagnosed as having heterozygous KCNQ1 variants and received beta-blocker therapy.
|
15028050 |
2004 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
|
9323054 |
1997 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.
|
16246960 |
2005 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The Y111C/KCNQ1 mutation is a Swedish long QT syndrome founder mutation that was introduced in the northern population approximately 600 years ago.
|
21129503 |
2011 |
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
PCR and bidirectional Sanger sequencing of genes important for long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome type 1 (BrS1), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, and RYR2) was performed.
|
26228265 |
2016 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome.
|
12522251 |
2003 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type 1 long-QT syndrome is associated with the genetic variants of KCNQ1 gene that encodes Kv7.1, the α-subunit of the voltage-gated potassium channel QKT subfamily member 1 that channels the slow component of the outwardly rectifying K<sup>+</sup> channel current in cardiac myocytes.
|
29058180 |
2018 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The diagnoses of the congenital LQT syndrome and its most common types LQT1 and LQT2 are made difficult because of the limitations of the electrocardiogram as a diagnostic tool.
|
11897209 |
2002 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hundreds of nonsynonymous single nucleotide variants (nsSNVs) have been identified in the 2 most common long-QT syndrome-susceptibility genes (KCNQ1 and KCNH2).Unfortunately, an ≈3%
|
22949429 |
2012 |
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
We performed mutation analysis for genes implicated in long QT syndrome (KCNQ1, KCNH2, and SCN5A) in 17 sudden unexplained death autopsy cases.
|
19198868 |
2009 |
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
For the first time, we linked common genetic variation at KCNQ1 with risk of long-QT syndrome.
|
25737393 |
2015 |