|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs.
|
28619993 |
2017 |
|
rs120074190
|
|
|
0.730 |
GeneticVariation |
BEFREE |
One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs.
|
28619993 |
2017 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.
|
25344363 |
2014 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.
|
22095730 |
2012 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.
|
22629021 |
2012 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
|
23098067 |
2012 |
|
rs120074190
|
|
|
0.730 |
GeneticVariation |
BEFREE |
We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A>G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).
|
21244686 |
2011 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.
|
20659946 |
2010 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
High prevalence of four long QT syndrome founder mutations in the Finnish population.
|
19160088 |
2009 |
|
rs120074190
|
|
|
0.730 |
GeneticVariation |
BEFREE |
A total of six compound heterozygotes were identified who had the HERG R176W mutation in combination with a previously reported LQTS mutation (KCNQ1 G589D or IVS7-2A>G).
|
16754261 |
2006 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
CLINVAR |
A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.
|
11216980 |
2001 |
|
rs120074190
|
|
A |
0.730 |
CausalMutation |
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 |