|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
[The long QT syndrome from the bedside to molecular genetic laboratory. The history of the first described Hungarian family].
|
16265869 |
2005 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Concerted all-or-none subunit interactions mediate slow deactivation of human ether-à-go-go-related gene K+ channels.
|
25008322 |
2014 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study aims to evaluate the genetic contribution of a KCNH2 variant for the two LQTS phenotypes.
|
27816319 |
2017 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Modelling the long QT syndrome with induced pluripotent stem cells.
|
21240260 |
2011 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.
|
19324319 |
2009 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG.
|
12775586 |
2003 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.
|
21536673 |
2011 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.
|
20181576 |
2010 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this paper, we will report a case of drug-induced long QT syndrome associated with an H(1)-receptor antagonist, hydroxyzine, in which a mutation was identified in the HERG gene.
|
19057127 |
2008 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To date, research on the human ether-a-go-go related gene (hERG) has focused on this potassium channel's role in cardiac repolarization and Long QT Syndrome (LQTS).
|
23459091 |
2013 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography.
|
30047011 |
2019 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, short-long RR pattern increased APD dispersion only in LQT2 rabbits through heterogeneous APD restitution and the short-term memory, underscoring the genotype-specific triggering of arrhythmias in LQT syndrome.
|
31619700 |
2019 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To optimize the search for HERG mutations, we have determined the genomic structure of HERG and investigated mutations in LQTS families.
|
9600240 |
1998 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Functional assessment of compound mutations in the KCNQ1 and KCNH2 genes associated with long QT syndrome.
|
16253915 |
2005 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Two of the 13 patients (15%) who presented with QT prolongation and TdP were found to carry long QT syndrome mutations (KCNH2-R744X and SCN5A-E446K).
|
22338672 |
2012 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cyclic nucleotide binding domain (CNBD) of the human ether-a-go-go-related gene (HERG) K+ channel are associated with LQT2, a form of hereditary Long QT syndrome (LQTS).
|
11278781 |
2001 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our study consisted of 1,923 U.S. subjects from the Rochester-based LQTS Registry with genotype-positive LQT1 (n = 879), LQT2 (n = 807), and LQT3 (n = 237).
|
29504689 |
2018 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A method for automated dideoxy fingerprinting (ddF) using capillary array electrophoresis (CAE) was developed and the efficiency of the method was tested by analyzing 24 DNA samples with mutations in one of the genes KCNQ1 and KCNH2, which are involved in 50% of LQTS cases.
|
11668638 |
2001 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function variants in the KCNH2-encoded Kv11.1 potassium channel cause long QT syndrome (LQTS) type 2 (LQT2).
|
31493592 |
2020 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
The genetic basis of long QT and short QT syndromes: a mutation update.
|
19862833 |
2009 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
|
24606995 |
2014 |
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
Human ether-a-go-go-related gene (hERG) channel inhibition by drugs is now recognized as a common reason for the acquired form of long QT syndrome.
|
19583963 |
2009 |
|
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
|
10220144 |
1999 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The human ether-a-go-go-related gene (herg) encodes a K+ current (IHERG) that plays a fundamental role in heart excitability by regulating the action potential repolarization (IKr); mutations of this gene are responsible for the chromosome 7-linked long QT syndrome (LQT2).
|
9485040 |
1998 |
|
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.
|
25417810 |
2014 |