|
Short QT Syndrome 1
|
0.920 |
Biomarker
|
disease |
CTD_human |
Modeling Short QT Syndrome Using Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
|
29574456 |
2018 |
|
Short QT Syndrome 1
|
0.920 |
Biomarker
|
disease |
BEFREE |
This study substantiates a causal link between quinidine and QT interval prolongation in SQT1 and suggests that quinidine may be a potential pharmacological agent for treating SQT1 patients.
|
28632743 |
2017 |
|
Short QT Syndrome 1
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Our findings show that both drugs demonstrate efficacy in reversing the SQT1 phenotype, and indicate that disopyramide warrants further investigation as an alternative to quinidine in the treatment of SQT1.
|
29085299 |
2017 |
|
Short QT Syndrome 1
|
0.920 |
Biomarker
|
disease |
BEFREE |
Our findings show that both drugs demonstrate efficacy in reversing the SQT1 phenotype, and indicate that disopyramide warrants further investigation as an alternative to quinidine in the treatment of SQT1.
|
29085299 |
2017 |
|
Short QT Syndrome 1
|
0.920 |
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 |
|
Short QT Syndrome 1
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.
|
19490267 |
2009 |
|
Short QT Syndrome 1
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel KCNH2 mutation as a modifier for short QT interval.
|
18692916 |
2009 |
|
Short QT Syndrome 1
|
0.920 |
GermlineCausalMutation
|
disease |
ORPHANET |
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.
|
15828882 |
2005 |
|
Short QT Syndrome 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.
|
15828882 |
2005 |
|
Short QT Syndrome 1
|
0.920 |
GeneticVariation
|
disease |
UNIPROT |
Sudden death associated with short-QT syndrome linked to mutations in HERG.
|
14676148 |
2004 |
|
Short QT Syndrome 1
|
0.920 |
Biomarker
|
disease |
MGD |
Selective knockout of mouse ERG1 B potassium channel eliminates I(Kr) in adult ventricular myocytes and elicits episodes of abrupt sinus bradycardia.
|
12612061 |
2003 |
|
Short QT Syndrome 1
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.
|
10862094 |
2000 |
|
Short QT Syndrome 1
|
0.920 |
CausalMutation
|
disease |
CLINVAR |
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
|
10483966 |
1999 |
|
Short QT Syndrome 1
|
0.920 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.
|
7889573 |
1995 |
|
Short QT Syndrome 1
|
0.920 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
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 |