|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
[Proposals for the drug section of the DAB 7. 16: Thyme leaves].
|
5982971 |
1966 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |
|
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
LHGDN |
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
|
17101080 |
2006 |
|
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings (a) confirm a previous report that FLJ23560 (BBS10) mutations are a significant cause of BBS, and (b) further demonstrate the utility of high-density SNP array mapping in consanguineous families for the mapping and identification of recessive disease genes.
|
17106446 |
2007 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.
|
17106446 |
2007 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Eight patients with BBS (ages 11.9-28.5 years) and mutations in BBS1 (4/8) or BBS10 (4/8) were tested.
|
17980398 |
2008 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.
|
17980398 |
2008 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
|
19190184 |
2009 |
|
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Given the fact that mutations in BBS genes have already been found in Meckel-like fetuses, and in light of the major contribution of BBS10 to BBS, the BBS10 gene was sequenced in 20 fetal cases and a child diagnosed antenatally presenting with characteristic renal anomalies and polydactyly, but without biliary dysgenesis.
|
20805367 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.
|
20177705 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Our data demonstrate that BBS6, BBS10, and BBS12 are necessary for BBSome assembly, and that impaired BBSome assembly contributes to the etiology of BBS phenotypes associated with the loss of function of these three BBS genes.
|
20080638 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome.
|
20498079 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
|
20805367 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
|
20472660 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
|
20805367 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Patients with Bardet-Biedl syndrome have hyperleptinemia suggestive of leptin resistance.
|
21209035 |
2011 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals.
|
21052717 |
2011 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome.
|
21157496 |
2011 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.
|
21044901 |
2011 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
In search of triallelism in Bardet-Biedl syndrome.
|
22353939 |
2012 |
|
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
Three additional BBS genes (BBS6, BBS10, and BBS12) have homology to type II chaperonins and interact with CCT/TRiC proteins and BBS7 to form a complex termed the BBS-chaperonin complex.
|
22500027 |
2012 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
|
22773737 |
2012 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Genotype-phenotype correlations in Bardet-Biedl syndrome.
|
22410627 |
2012 |
|
Bardet-Biedl Syndrome
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Sequence analysis revealed a novel homozygous missense mutation (c.281T>C, p.Ile94Thr) in the gene ARL6 in family A and a nonsense mutation (c.1075C>T, p.Gln359*) in the gene BBS10 in family B. Mutations identified in the present study extend the body of evidence implicating the genes ARL6 and BBS10 in causing Bardet-Biedl syndrome.
|
23219996 |
2013 |