|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
The disruption of hERG trafficking caused by the KCNQ1-T587M mutation is likely the reason why some patients exhibit severe LQTS phenotypes.
|
30591322 |
2019 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Long QT syndrome in South Africa: the results of comprehensive genetic screening.
|
24217263 |
2013 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles.
|
20348026 |
2010 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT syndrome with KCNQ1 mutation.
|
20487114 |
2010 |
|
Long QT Syndrome
|
|
0.720 |
GeneticVariation
|
BEFREE |
The trafficking-deficient LQTS mutation KCNQ1-T587M fails to show the chaperoning function that enhances KCNH2 membrane localization with KCNQ1-WT.
|
19959132 |
2009 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
We hypothesized that failure of trafficking-deficient KCNQ1-T587M to enhance KCNH2 membrane expression could reduce KCNH2 current versus wild-type KCNQ1 (KCNQ1-WT), contributing to the LQTS phenotype of KCNQ1-T587M carriers.
|
19959132 |
2009 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
|
19841300 |
2009 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.
|
18752142 |
2008 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.
|
15234419 |
2004 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
|
11162126 |
2001 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.
|
10024302 |
1999 |
|
Long QT Syndrome
|
|
0.720 |
CausalMutation
|
CLINVAR |
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
|
9799083 |
1998 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.
|
25705178 |
2015 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A molecular mechanism for adrenergic-induced long QT syndrome.
|
24184248 |
2014 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.
|
21241800 |
2011 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
|
19808498 |
2009 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.
|
18165683 |
2008 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
|
16414944 |
2005 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.
|
12442276 |
2002 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
[Congenital long QT syndrome. The value of genetics in prognostic evaluation].
|
10367071 |
1999 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.
|
10220146 |
1999 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.
|
9570196 |
1998 |
|
Long QT Syndrome 1
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A recessive variant of the Romano-Ward long-QT syndrome?
|
9641694 |
1998 |