Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We designed multivariate logistic models to predict the presence of the KCNH2 mutation or moxifloxacin while adjusting for the level of QTc prolongation and the level of heart rate in LQT2 patients.
|
21315844 |
2011 |
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 |
Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.
|
10483966 |
1999 |
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 |
CausalMutation
|
disease |
CLINVAR |
Identification of the gene causing long QT syndrome in an Israeli family.
|
19070294 |
2008 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study characterized the properties of a novel KCNH2 mutation discovered in a LQT2 patient resuscitated from a ventricular fibrillation arrest.
|
21483829 |
2011 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A mutation in HERG associated with notched T waves in long QT syndrome.
|
8877771 |
1996 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Congenital long QT syndrome with compound mutations in the KCNH2 gene.
|
24057343 |
2014 |
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 |
BEFREE |
T1945+6C is a disease-causing mutation.It alters KCNH2 splicing and cosegregates with the LQT2 phenotype.
|
15364333 |
2004 |
Long Qt Syndrome 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The chromosome 7-linked form of congenital long QT syndrome (LQT2) is caused by mutations in the human ether-a-go-go-related gene (HERG) that encodes the rapidly activating delayed rectifier potassium channel.
|
10531299 |
1999 |
Long Qt Syndrome 2
|
0.800 |
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 |
Long Qt Syndrome 2
|
0.800 |
Biomarker
|
disease |
BEFREE |
Enhancement of HERG protein expression through Hsp90 inhibition of CHIP binding might be a novel therapeutic strategy for long QT syndrome 2 caused by trafficking abnormalities of HERG proteins.
|
23963841 |
2013 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
KCNH2 gene mutations disrupting rapid component of I(K) (I(Kr)) underlie type 2 congenital long QT syndrome (LQT2).
|
19419905 |
2009 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Characterization of a novel missense mutation in the pore of HERG in a patient with long QT syndrome.
|
10517660 |
1999 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Of these, zebrafish models have involved targeting two different KCNH2 gene (long QT syndrome 2) orthologues, termed zerg-2 and zerg-3, with differing cardiac phenotypes.
|
20438705 |
2010 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.
|
16361248 |
2006 |
Long Qt Syndrome 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Type 2 congenital long QT syndrome (LQT2) results from KCNH2 or hERG gene mutations. hERG encodes the K(v)11.1 alpha subunit of the rapidly activating delayed rectifier K(+) current in the heart.
|
20931094 |
2010 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
Long Qt Syndrome 2
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Identification and functional characterization of the novel human ether-a-go-go-related gene (hERG) R744P mutant associated with hereditary long QT syndrome 2.
|
22314138 |
2012 |
Long Qt Syndrome 2
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in HERG are associated with human chromosome 7-linked congenital long QT (LQT-2) syndrome.
|
9694858 |
1998 |