Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
The identification of FLNC as a novel KCNE2 ligand not only enhances current understanding of ion channel function and regulation, but also provides valuable information about possible pathways likely to be involved in LQTS pathogenesis.
|
26956495 |
2016 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We have developed a model for the long QT syndrome type-5 in rabbits (LQT5 ) with cardiac-specific overexpression of a mutant (G52R) KCNE1 β-subunit of the channel that carries the slow delayed-rectifier K(+) -current (IKs ).
|
27076034 |
2016 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in KCNE2 previously associated with Long QT syndrome was also identified.
|
26284702 |
2015 |
Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
KCNE2 has been widely studied since we first discovered one of its roles in the heart and its association with inherited and acquired human Long QT syndrome.
|
26123744 |
2015 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
An LQTS registry search identified a 55-year male with M54T MiRP1 mutation, history of sinus bradycardia (39-56 bpm), and prolonged QTc.
|
23631727 |
2013 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing, a comprehensive mutational analysis of the long QT syndrome susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) and a targeted analysis of the catecholaminergic polymorphic ventricular tachycardia type 1-associated gene (RYR2) were conducted.
|
22677073 |
2012 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We scanned five of the LQTS-susceptibility genes (KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2) for mutations by DHPLC and/or sequencing.
|
23098067 |
2012 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variations in this gene have been associated with the LQT5 form of the long QT syndrome (LQTS), secondary to reduction of I(Ks) current.
|
21712262 |
2011 |
Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Since that time however, KCNE2 has been shown to modify the behaviour of several other channels and currents, and its role in the heart and in the aetiology of long QT syndrome has become less clear.
|
22166675 |
2011 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A previously described mutation and a known rare variant were found in the LQTS-associated genes SCN5A and KCNE2.
|
19863579 |
2010 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in either KCNQ1 or KCNE1 can alter the biophysical properties of I(Ks) and mutations in KCNE1 underlie cases of long QT syndrome type 5 (LQT5).
|
19907016 |
2010 |
Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
Among the genes that are responsible for LQTS, KCNE1 and KCNE2 are members of the KCNE family of genes, and function as ancillary subunits of Kv channels.
|
19306396 |
2009 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Retrospective analysis of the first 2,500 cases (1,515 female patients, average age at testing 23 +/- 17 years, range 0 to 90 years) scanned for mutations in 5 of the LQTS-susceptibility genes: KCNQ1 (LQT1), KCNH2 (LQT2), SCN5A (LQT3), KCNE1 (LQT5), and KCNE2 (LQT6).
|
19716085 |
2009 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNQ1, HERG, SCN5A, minK and MiRP1 genes cause long QT syndrome (LQTS), of which there are two forms: the Romano Ward syndrome and the Jervell and Lange-Nielsen syndrome.
|
18752142 |
2008 |
Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
In general, mutations in cardiac ion channel genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2) have been identified as a cause for LQTS.
|
18052691 |
2008 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human KCNE2, which encodes the MiRP1 potassium channel ancillary subunit, associate with long QT syndrome (LQTS), a defect in ventricular repolarization.
|
18603586 |
2008 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Using polymerase chain reaction, denaturing high-performance liquid chromatography, and direct DNA sequencing, open reading frame/splice site mutational analysis was conducted for all 8 genes implicated in the pathogenesis of either LQTS (LQT1 to LQT6) or multisystem disorders involving either QT or QU prolongation.
|
17222736 |
2007 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
DNA samples were screened for 10 missense mutations in 5 genes associated with the congenital long-QT (LQT) syndrome (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2).
|
16329159 |
2006 |
Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
To determine the genetic variability of long QT syndrome (LQTS)-associated genes (KCNQ1, HERG, KCNE1 and KCNE2) among three distinct ethnic groups in the Singapore population.
|
16487223 |
2006 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Among the genotype positive patients (N = 272), 243 had single pathogenic mutations (LQT1: n = 120 patients; LQT2: n = 93; LQT3: n = 26; LQT5: n = 3; LQT6: n = 1), and 29 patients (10% of genotype-positive patients and 5% overall) had two LQTS-causing mutations.
|
15840476 |
2005 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations of genes encoding KvLQT1 and minK are responsible for the hereditary long QT syndrome (loci LQT1 and LQT5, respectively).
|
14761891 |
2004 |
Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
So far, six genes (KCNQ1, HERG, SCN5A, ANK2, KCNE1, KCNE2) have been demonstrated to be involved in the development of LQTS.
|
15306731 |
2004 |
Long QT Syndrome
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Mutations in KCNE2 have been linked to long-QT syndrome (LQT6), yet KCNE2 protein expression in the ventricle and its functional role in native channels are not clear.
|
15066947 |
2004 |
Long QT Syndrome
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Similar to KCNQ1 S140G, the mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel; unlike long QT syndrome-associated KCNE2 mutations, it did not alter HERG-KCNE2 current.
|
15368194 |
2004 |
Long QT Syndrome
|
0.400 |
Biomarker
|
disease |
BEFREE |
In our studies we investigated the use of two bicistronic plasmid DNA gene vectors with either hMiRP1 or Q9E-MiRP1 and green fluorescent protein (GFP), plus a C-terminus of the hMiRP1 or of the Q9E-hMiRP1 coding region for the FLAG (MDYKDDDDK) peptide.
|
12828861 |
2003 |