|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of BBS10 mutation along with AR and PDE6B gene mutation will expand the genetic and phenotypic spectrum in individuals with BBS.
|
31639430 |
2020 |
|
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 |
GeneticVariation
|
disease |
CLINVAR |
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
|
25982971 |
2015 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
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 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Such a large deletion in BBS10 has not been reported previously in any population and is likely to be contributing to the phenotype of Bardet-Biedl Syndrome in this family.
|
23403234 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
|
25439097 |
2014 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we describe the successful generation of an induced pluripotent stem cell (iPSC) line KCi002-A from a male with BBS, homozygous for the disease causing variant c.271insT, p.(Cys91fsX95) in BBS10.Resource table.
|
30312873 |
2018 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
|
20805367 |
2010 |
|
Bardet-Biedl Syndrome
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing of the most commonly mutated genes (BBS1, BBS2 and BBS10) accounting for ∼50% of BBS patients determined mutations only in BBS2, including three novel mutations.
|
24849935 |
2014 |
|
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
BEFREE |
BBS1, BBS2 and BBS10 are major causative genes in Italian BBS patients.
|
28143435 |
2017 |
|
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 |
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 |
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 |
Biomarker
|
disease |
LHGDN |
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
|
17101080 |
2006 |
|
Bardet-Biedl Syndrome
|
0.700 |
Biomarker
|
disease |
MGD |
To date, 20 BBS genes have been identified with BBS10 being a major BBS gene found to be mutated in almost 20 percent of all BBS patients worldwide.
|
26273430 |
2015 |
|
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 |
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 |
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
|
16582908 |
2006 |
|
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 |
Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
|
27486776 |
2016 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
In search of triallelism in Bardet-Biedl syndrome.
|
22353939 |
2012 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak.
|
28808579 |
2017 |
|
Bardet-Biedl Syndrome
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.
|
25982971 |
2015 |