|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Patient-specific hiPSCs were generated from a symptomatic SQTS patient carrying the N588K mutation in the KCNH2 gene, differentiated into cardiomyocytes, and compared with healthy and isogenic (established by CRISPR/Cas9-based mutation correction) control hiPSC-derived cardiomyocytes (hiPSC-CMs).
|
31072576 |
2019 |
|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
This study recruited 1 patient with short QT syndrome type 1 carrying a mutation (N588K) in KCNH2 as well as 2 healthy control subjects.
|
29574456 |
2018 |
|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
A gain of function mutation N588K in the KCNH2 gene that encodes HERG channels has been shown to underlie the SQT1 form of short QT syndrome (SQTS).
|
21130771 |
2011 |
|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Here, for the first time, electrophysiological effects were studied of a gain-of-function hERG mutation (N588K; responsible for the 'SQT1' variant of the short QT syndrome) on current (I(hERG1a/1b)) carried by co-expressed hERG1a/1b channels.
|
19501051 |
2009 |
|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
To evaluate the electrophysiological consequences of the short-QT syndrome at the level of the cardiac AP, the Markov model of wild-type (WT) KCNH2 channel was modified to obtain a model of the KCNH2 channel with the N588K mutation associated with the short-QT syndrome.
|
16565572 |
2006 |
|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Hence, unlike the known mutations in the two other SQTS forms (N588K in HERG and V307L in KvLQT1), simulations using the D172N and WT/D172N mutations fully accounted for the ECG phenotype of tall and asymmetrically shaped T waves.
|
15761194 |
2005 |
|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome.
|
16039272 |
2005 |
|
rs104894021
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Our study confirms that N588K is a hotspot for familial form of the short QT syndrome.
|
15828882 |
2005 |
|
rs104894584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
SQT3 variant (linked to the inward rectifier potassium current I <sub>K1</sub>) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF).
|
28812984 |
2017 |
|
rs104894584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The SQTS variant 3 is linked to D172N mutation to the KCNJ2 gene that causes a gain-of-function to the inward rectifier potassium channel current (I <sub>K1</sub>), which shortens the ventricular action potential duration (APD) and effective refractory period (ERP).
|
28592292 |
2017 |
|
rs104894584
|
|
|
0.040 |
GeneticVariation |
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 |
|
rs104894584
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)).
|
22308236 |
2012 |
|
rs199472947
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, QTc of SQT patient and action potential durations of SQT iPSC-CMs were both normalized by quinidine, indicating that quinidine is beneficial to KCNH2 T618I of SQT.
|
30582453 |
2019 |
|
rs199472947
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The altered function of T618I-HERG channels suggests that this mutation in the KCNH2 gene is responsible for the SQTS phenotype in this family.
|
21130771 |
2011 |
|
rs199472687
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Compared to the WT, AP simulations demonstrated marked rate-dependent shortening of AP duration (APD) for V141M, predicting a SQTS phenotype.
|
29213224 |
2017 |
|
rs120074195
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Incorporating the V307L mutation into simulations reproduced defining features of the SQTS: abbreviation of the QT interval, and increases in T wave amplitude and Tpeak-Tend duration.
|
17905416 |
2008 |