Short QT Syndrome 3
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death.
|
29290967 |
2017 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Gene-Targeted Analysis of Clinically Diagnosed Long QT Russian Families.
|
28003625 |
2017 |
Short QT Syndrome 3
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Current topics in catecholaminergic polymorphic ventricular tachycardia.
|
27761157 |
2016 |
Short QT Syndrome 3
|
0.740 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ion channelopathies in human induced pluripotent stem cell derived cardiomyocytes: a dynamic clamp study with virtual IK1.
|
25691870 |
2015 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
|
24861851 |
2015 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Andersen-Tawil syndrome with early fixed myopathy.
|
25415519 |
2014 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan.
|
23595086 |
2013 |
Short QT Syndrome 3
|
0.740 |
GeneticVariation
|
disease |
BEFREE |
KCNJ2 mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmia.
|
23440193 |
2013 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.
|
23644778 |
2013 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Cardiac characteristics and long-term outcome in Andersen-Tawil syndrome patients related to KCNJ2 mutation.
|
23867365 |
2013 |
Short QT Syndrome 3
|
0.740 |
Biomarker
|
disease |
BEFREE |
A few families have been identified with specific genotypes: 3 with mutations in potassium channels called SQT1 (Iks), SQT2 (Ikr) and SQT3 (Ik1).
|
23677719 |
2013 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Phenotype variability in patients carrying KCNJ2 mutations.
|
22589293 |
2012 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Altered stress stimulation of inward rectifier potassium channels in Andersen-Tawil syndrome.
|
22002906 |
2012 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Membrane dysfunction in Andersen-Tawil syndrome assessed by velocity recovery cycles.
|
22806368 |
2012 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
A novel KCNJ2 nonsense mutation, S369X, impedes trafficking and causes a limited form of Andersen-Tawil syndrome.
|
21493816 |
2011 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.
|
20382953 |
2010 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.
|
18452873 |
2008 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
|
17582433 |
2007 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.
|
17341397 |
2007 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
|
17221872 |
2007 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Mutations of KCNJ2 gene associated with Andersen-Tawil syndrome in Korean families.
|
17211524 |
2007 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.
|
17568571 |
2007 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities.
|
17119796 |
2006 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.
|
16818210 |
2006 |
Short QT Syndrome 3
|
0.740 |
CausalMutation
|
disease |
CLINVAR |
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
|
16217063 |
2005 |