|
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Activity-dependent development of spinal cord motor neurons.
|
1467812 |
1993 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These data demonstrate that the LQT gene in these kindreds is not linked to H ras-1 and suggest that mutations in at least two genes can cause LQT.
|
8102381 |
1993 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We previously mapped three LQT loci: LQT1 on chromosome 11p15.5, LQT2 on 7q35-36, and LQT3 on 3p21-24.
|
7889574 |
1995 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
KVLQT1 mutations in three families with familial or sporadic long QT syndrome.
|
8872472 |
1996 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
|
8528244 |
1996 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recent studies have shown that LQT is caused by an Ala212Val mutation in a potassium channel gene (KVLQT1) in pedigrees 161 to 164.
|
8818942 |
1996 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The cosegregation of this distinct mutation with LQT demonstrates that HERG is the LQT gene in this pedigree.
|
8914737 |
1996 |
|
Long QT Syndrome
|
0.700 |
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
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
|
9323054 |
1997 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The mutation was present in all affected family members but absent in normal control individuals, providing evidence that the mutated KVLQT1-gene product indeed caused LQTS in this family.
|
9272155 |
1997 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
9024139 |
1997 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.
|
9312006 |
1997 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.
|
9323054 |
1997 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recombinants allowed us to map the JLN gene between D11S922 and D11S4146, to a 6-cM interval where KVLQT1, a potassium channel gene causing Romano-Ward (RW) syndrome, the dominant form of long QT syndrome, has been previously localized.
|
9020846 |
1997 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.
|
9024139 |
1997 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
|
9386136 |
1997 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, in families with JLNS, Neyroud et al. reported homozygosity for a single mutation in KVLQT1 , a gene which has previously been shown to be mutated in families with dominantly inherited isolated long QT syndrome [Neyroud et al .(1997) Nature Genet ., 15, 186-189].
|
9328483 |
1997 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
|
9386136 |
1997 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
QTc intervals were analyzed according to age (< 16 or > or = 16 years) and gender in 460 genotyped blood relatives from families with long QT syndrome linked to chromosome 11p (KVLQT1; n = 199), 7q (HERG; n = 208) or 3p (SCN5A; n = 53).
|
8996300 |
1997 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular basis of the long-QT syndrome associated with deafness.
|
9164812 |
1997 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
|
9799083 |
1998 |
|
Long QT Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.
|
9693036 |
1998 |
|
Long QT Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.
|
9781056 |
1998 |
|
Long QT Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Four LQT genes have been identified for autosomal-dominant LQT: K+ channel genes KVLQT1 on chromosome 11p15.5, HERG on 7q35-36 and minK on 21q22, and the cardiac Na+ channel gene SCN5A on chromosome 3p21-24.
|
9791861 |
1998 |