Congenital long QT syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
LQT1 is a subtype of LQTS caused by mutations in KCNQ1, affecting the slow delayed-rectifier potassium current (<i>I</i><sub>Ks</sub>), which is essential for cardiac repolarization.
|
30967788 |
2019 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function (LOF) mutations in KCNQ1 are the most common cause of congenital long QT syndrome (LQTS), type 1 LQTS, an inherited genetic predisposition to cardiac arrhythmia and sudden cardiac death.
|
31518351 |
2019 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To establish a KCNQ1 mutant-specific induced pluripotent stem cell (iPSC) model of a Chinese inherited long QT syndrome (LQTS) patient and to explore the pathogenesis of KCNQ1 mutations.
|
31226583 |
2019 |
Congenital long QT syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
Mutations that induce loss of function (LOF) or dysfunction of the human KCNQ1 channel are responsible for susceptibility to a life-threatening heart rhythm disorder, the congenital long QT syndrome (LQTS).
|
29532034 |
2018 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Several mutations linked to the LQTS have been identified, the most common of which have been found in the potassium channel KCNQ1 (LQT1) and hERG (LQT2) genes and in the sodium channel SCN5A (LQT3) gene.
|
27054604 |
2018 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report three novel variants (KCNQ1 p.46, KCNH2 p.D803Y, SCN5A p.G1391R) which have never been reported for this AA location in LQTS; the phenotype-genotype correlation suggests their pathogenicity.
|
30244407 |
2018 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified a LQTS family harboring three compound mutations in different genes (KCNQ1-R174C, hERG-E1039X and SCN5A-E428K).
|
29449639 |
2018 |
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
|
29532034 |
2018 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
At least 16 genes have been implicated in LQTS; the yield of genetic analysis of 3 genes (KCNQ1, KCNH2, and SCN5A) is about 70%, with KCNQ1 mutations accounting for ∼50% of positive cases.
|
28438721 |
2017 |
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.
|
28944242 |
2017 |
Congenital long QT syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
This study describes one physiological form of KCNQ1, depolarized voltage sensors with a closed pore in the absence of PIP<sub>2</sub>, and reveals a regulatory interaction between CaM and KCNQ1 that may explain CaM-mediated LQTS.
|
28575668 |
2017 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Four patients had LQTS type 1, 6 had LQTS type 2, and 1 had a disease-associated mutation in KCNQ1 and a variant of unknown significance in KCNH2 gene.
|
28532774 |
2017 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified four genetic variants (KCNQ1-p.R583H, KCNH2-p.C108Y, KCNH2-p.K897T, and KCNE1-p.G38S) in an LQTS family.
|
28749435 |
2017 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
|
27041150 |
2016 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.
|
27485560 |
2016 |
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.
|
27041150 |
2016 |
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.
|
27831900 |
2016 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.
|
26669661 |
2016 |
Congenital long QT syndrome
|
0.200 |
Biomarker
|
disease |
BEFREE |
We assessed the clinical course and the fulfillment of current treatment strategies in molecularly defined pediatric LQTS type 1 and (LQT1) and type 2 (LQT2) patients.
|
26063740 |
2015 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.
|
26546361 |
2015 |
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.
|
25444851 |
2015 |
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Long QT syndrome with mutations in three genes: A rare case.
|
25935074 |
2015 |
Congenital long QT syndrome
|
0.200 |
CausalMutation
|
disease |
CLINVAR |
Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.
|
24666684 |
2015 |
Congenital long QT syndrome
|
0.200 |
GeneticVariation
|
disease |
CLINVAR |
Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.
|
25453094 |
2014 |