Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Functional study of a KCNH2 mutant: Novel insights on the pathogenesis of the LQT2 syndrome.
|
31361068 |
2019 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In female transgenic LQT2 rabbits (HERG-G628S, loss of IKr), hormone effects on QT/action potential duration (APD) were assessed (0.2-200 ng/L).
|
30938413 |
2019 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These are the first data to visually demonstrate mutation-specific differences in the trafficking-deficient LQT2 phenotype, and this study has identified a novel way to categorize trafficking-deficient LQT2 mutations based on differences in intracellular retention.
|
29875689 |
2018 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Tetrameric Assembly of K+ Channels Requires ER-Located Chaperone Proteins.
|
27916661 |
2017 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.
|
27816319 |
2017 |
Long Qt Syndrome 2
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Computational Analysis of the Mode of Action of Disopyramide and Quinidine on hERG-Linked Short QT Syndrome in Human Ventricles.
|
29085299 |
2017 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Long QT syndrome 2 (LQT2) is caused by mutations in the human ether-a-go-go-related gene (hERG).
|
27803431 |
2016 |
Long Qt Syndrome 2
|
0.800 |
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 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?
|
27041096 |
2016 |
Long Qt Syndrome 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
|
26063740 |
2015 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Congenital long QT syndrome with compound mutations in the KCNH2 gene.
|
24057343 |
2014 |
Long Qt Syndrome 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
Validating this model, control iPS-CM treated with HERG-blocking drugs recapitulated the LQT2 phenotype.
|
25254341 |
2014 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We generated LQTS2-specific CMs (A561V missense mutation in KCNH2) from iPSCs using the virus-free reprogramming method.
|
24623279 |
2014 |
Long Qt Syndrome 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
Enhancement of HERG protein expression through Hsp90 inhibition of CHIP binding might be a novel therapeutic strategy for long QT syndrome 2 caused by trafficking abnormalities of HERG proteins.
|
23963841 |
2013 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Defective functional PM expression of the human ether-a-go-go-related gene (hERG) K(+) channel leads to the prolongation of the ventricular action potential that causes long QT syndrome 2 (LQT2), with increased propensity for arrhythmia and sudden cardiac arrest.
|
24152733 |
2013 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function KCNH2 mutations cause the type 2 long QT syndrome (LQT2), and most LQT2-linked missense mutations inhibit the trafficking of Kv11.1 channels.
|
23864605 |
2013 |
Long Qt Syndrome 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Single nucleotide deletion mutation of KCNH2 gene is responsible for LQT syndrome in a 3-generation Korean family.
|
24015048 |
2013 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human ether-a-go-go-related gene (hERG) are responsible for congenital Type 2 long QT syndrome (LQT2).
|
23134353 |
2013 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
KCNH2 mutations cause type 2 long QT syndrome (LQT2), which increases the risk for life-threatening ventricular arrhythmias.
|
23546015 |
2013 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.
|
22314138 |
2012 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the human ether-a-go-go-related gene 1 (hERG1) cause type 2 long QT syndrome (LQT2).
|
22876326 |
2012 |
Long Qt Syndrome 2
|
0.800 |
SusceptibilityMutation
|
disease |
CLINVAR |
Model for long QT syndrome type 2 using human iPS cells demonstrates arrhythmogenic characteristics in cell culture.
|
22052944 |
2012 |
Long Qt Syndrome 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.
|
22949429 |
2012 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.
|
22314138 |
2012 |
Long Qt Syndrome 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.
|
22429796 |
2012 |