×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
BEFREE
Long QT syndrome caveolin-3 mutations differentially modulate K<sub>v</sub> 4 and Ca<sub>v</sub> 1.2 channels to contribute to action potential prolongation.
30588629
2019
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
Biomarker
disease
BEFREE
However, while WT cav-3 alone had no significant effect on HCN4 current activation, all LQTS -associated cav-3 mutations significantly accelerated HCN4 activation kinetics.
28648120
2017
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
CLINVAR
CAV3 mutation in a patient with transient hyperCKemia and myalgia.
27772553
2017
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
BEFREE
Probands with LQTS (n=167) were screened for mutations in CAV3 using direct DNA sequencing.
24021552
2013
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
Biomarker
disease
BEFREE
Mutations in CAV3 -encoding caveolin-3 (Cav3 ) have been implicated in type 9 long QT syndrome (LQT9) and sudden infant death syndrome (SIDS).
23541953
2013
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
BEFREE
Mutations in CAV3 cause LQT syndrome 9 (LQT9 ).
23640888
2013
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
CLINVAR
Myotonia associated with caveolin-3 mutation.
22581547
2012
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Rippling is not always electrically silent in rippling muscle disease.
21404291
2011
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
20472890
2010
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
Biomarker
disease
BEFREE
Many other genes involved in LQTS have been described recently(KCNJ2, AKAP9, ANK2, CACNA1C, SCNA4B, SNTA1, and CAV3 ).
20809527
2010
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
19380584
2009
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
18930476
2009
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Caveolinopathy--new mutations and additional symptoms.
18583131
2008
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
Biomarker
disease
BEFREE
Molecular screening of 7 genes (KCNQ1, KCNH2, SCN5A, KCNE1, KCNE2, KCNJ2, CAV3 ) associated with LQTS was performed with denaturing high-performance liquid chromatography and nucleotide sequencing of genomic DNA from 201 cases diagnosed as SIDS according to the Nordic Criteria, and from 182 infant and adult controls.
17210839
2007
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
Biomarker
disease
BEFREE
We recently established CAV3 -encoded caveolin-3 as a novel LQTS -associated gene with mutations producing a gain-of-function, LQT3-like molecular/cellular phenotype.
17275750
2007
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
BEFREE
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome .
17060380
2006
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
CLINVAR
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
15668980
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Molecular and muscle pathology in a series of caveolinopathy patients.
15580566
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
15318349
2004
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
CLINVAR
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
15099591
2004
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
GeneticVariation
disease
CLINVAR
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
12666119
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Caveolin-3 gene mutation in Japanese with rippling muscle disease.
12807393
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
12939441
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.
14633633
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.190
CausalMutation
disease
CLINVAR
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
11805270
2002