Long QT Syndrome
|
0.500 |
SusceptibilityMutation
|
disease |
CLINVAR |
|
|
|
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since block of IKr is a known mechanism for drug-induced cardiac arrhythmias, the finding that HERG encodes IKr channels provides a mechanistic link between certain forms of inherited and acquired LQT.
|
7736582 |
1995 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recently, we demonstrated that mutations in a putative cardiac potassium channel gene, HERG, are responsible for the chromosome 7-linked form of long-QT syndrome, whereas mutations in the cardiac sodium channel gene SCN5A cause the chromosome 3-linked form of this disorder.
|
7788908 |
1995 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
Single strand conformation polymorphism and DNA sequence analyses reveal HERG mutations in six LQT families, including two intragenic deletions, one splice-donor mutation, and three missense mutations.
|
7889573 |
1995 |
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Single strand conformation polymorphism and DNA sequence analyses reveal HERG mutations in six LQT families, including two intragenic deletions, one splice-donor mutation, and three missense mutations.
|
7889573 |
1995 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Single strand conformation polymorphism and DNA sequence analyses reveal HERG mutations in six LQT families, including two intragenic deletions, one splice-donor mutation, and three missense mutations.
|
7889573 |
1995 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
The genes for the long QT syndrome (LQTS) linked to chromosomes 3 (LQT3) and 7 (LQT2) were identified as SCN5A, the cardiac Na+ channel gene, and as HERG, a K+ channel gene.
|
8521555 |
1995 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We used molecular genetics to identify genes responsible for 2 forms of LQT (cardiac potassium and sodium channel genes HERG and SCN5A, respectively).
|
8569466 |
1996 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
CTD_human |
In a family with LQT, we identified a novel mutation in human ether-a-go-go-related gene (HERG), a voltage-gated potassium channel.
|
8635257 |
1996 |
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia.
|
8700910 |
1996 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Many members of families with inherited long-QT (LQT) syndrome have mutations in HERG, a gene encoding a cardiac potassium channel that is modulated by extracellular potassium.
|
8790040 |
1996 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A mutation in HERG associated with notched T waves in long QT syndrome.
|
8877771 |
1996 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel missense mutation in the cyclic nucleotide-binding domain of HERG causes long QT syndrome.
|
8914737 |
1996 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Gene cloning studies have established that the seizure gene product is the Drosophila homolog of HERG, a member of the eag family of K+ channels implicated in one form of hereditary long QT syndrome in humans.
|
8994043 |
1997 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Since the truncated HERG protein in patients with long QT syndrome induces a dominant phenotype, that is, cardiac sudden death, the assembly of nonfunctional complexes between wild-type and mutated subunits was implicated in causing the disease.
|
8995352 |
1997 |
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
9024139 |
1997 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
9024139 |
1997 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Recently, the genes for the LQTS inked to chromosomes 3 (LQT3), 7 (LQT2), and 11 (LQT1) were identified as SCN5A, the cardiac sodium channel gene and as HERG and KvLQT1 potassium channel genes.
|
9272507 |
1997 |
Long QT Syndrome
|
0.500 |
Biomarker
|
disease |
BEFREE |
Expression of the erg1 gene in the sympathetic nervous system has potential implications for the etiology of the LQT2 form of the human genetic disease long QT syndrome.
|
9390998 |
1997 |
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.
|
9452080 |
1998 |
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 |
Biomarker
|
disease |
BEFREE |
(LQT2), SCN5A (LQT3), and KCNE1 (minK, LQT5)--have been identified in LQTS.
|
9511785 |
1998 |
Long QT Syndrome
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
|
9544837 |
1998 |
Long QT Syndrome
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.
|
9544837 |
1998 |
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 |