Bardet-Biedl Syndrome
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is associated with a multisystemic disorder without myopathy (Bardet-Biedl syndrome type11), suggesting that these domains are involved in distinct processes.
|
30823891 |
2019 |
Bardet-Biedl Syndrome
|
0.190 |
Biomarker
|
disease |
BEFREE |
Defects in TRIM32 were reported in limb-girdle muscular dystrophy type 2H (LGMD2H), sarcotubular myopathies (STM) and in Bardet-Biedl syndrome.
|
25351777 |
2015 |
Bardet-Biedl Syndrome
|
0.190 |
Biomarker
|
disease |
BEFREE |
Thus, physical and functional interactions between NPHP and Bardet-Biedl syndrome gene products, demonstrated for Glis2 and TRIM32, may help to explain the phenotypic similarities between these two syndromes.
|
24500717 |
2014 |
Bardet-Biedl Syndrome
|
0.190 |
CausalMutation
|
disease |
CLINVAR |
Scapuloperoneal muscular dystrophy phenotype due to TRIM32-sarcotubular myopathy in South Dakota Hutterite.
|
23142638 |
2013 |
Bardet-Biedl Syndrome
|
0.190 |
CausalMutation
|
disease |
CLINVAR |
The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.
|
21775502 |
2011 |
Bardet-Biedl Syndrome
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the B-box region of TRIM32 has also been shown to result in a more pleiotropic disorder, Bardet-Biedl Syndrome (BBS11).
|
21496629 |
2011 |
Bardet-Biedl Syndrome
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
To date, 14 BBS genes have been identified, 3 of which have been found mutated only in a single BBS family each (BBS11/TRIM32, BBS13/MKS1 and BBS14/MKS4/NPHP6).
|
20177705 |
2010 |
Bardet-Biedl Syndrome
|
0.190 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene encoding tripartite motif protein 32 (TRIM32) cause two seemingly diverse diseases: limb-girdle muscular dystrophy type 2H (LGMD2H) or sarcotubular myopathy (STM) and Bardet-Biedl syndrome type 11(BBS11).
|
19349376 |
2009 |
Bardet-Biedl Syndrome
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, a mutation in the B-box domain of TRIM32 cosegregates with Bardet-Biedl syndrome type 11 (BBS11).
|
17994549 |
2008 |
Bardet-Biedl Syndrome
|
0.190 |
GeneticVariation
|
disease |
LHGDN |
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
|
16606853 |
2006 |
Bardet-Biedl Syndrome
|
0.190 |
Biomarker
|
disease |
BEFREE |
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
|
16606853 |
2006 |
Bardet-Biedl Syndrome
|
0.190 |
AlteredExpression
|
disease |
BEFREE |
Previously, we reported that expression of Trim32, a RING domain ubiquitin-protein isopeptide ligase-ubiquitin ligase mutated in human limb-girdle muscular dystrophy type 2H (LGMD2H) and Bardet-Biedl syndrome, is elevated during mouse skin carcinogenesis, protecting keratinocytes from apoptosis induced by UVB and tumor necrosis factor-alpha (TNFalpha).
|
16816390 |
2006 |
Bardet-Biedl Syndrome
|
0.190 |
CausalMutation
|
disease |
CLINVAR |
Commonality of TRIM32 mutation in causing sarcotubular myopathy and LGMD2H.
|
15786463 |
2005 |
Bardet-Biedl Syndrome
|
0.190 |
CausalMutation
|
disease |
CLINVAR |
Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene.
|
11822024 |
2002 |