Bardet-Biedl Syndrome
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.
|
30614526 |
2019 |
Bardet-Biedl Syndrome
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Bardet-Biedl syndrome (BBS) is genetically heterogeneous with at least 21 genes involved, and BBS10 encodes, together with BBS6 and BBS12, chaperonin-like proteins which are important for the assembly of the multiprotein complex, the BBSome encoded by other BBS genes.
|
30312873 |
2018 |
Bardet-Biedl Syndrome
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing.
|
29633607 |
2018 |
Bardet-Biedl Syndrome
|
0.180 |
Biomarker
|
disease |
BEFREE |
Furthermore, three of the 21 genes currently known to be involved in BBS encode chaperonin-like proteins (MKKS/BBS6, BBS10, and BBS12), so BBS can be also considered a member of the growing group of chaperonopathies.
|
28824921 |
2017 |
Bardet-Biedl Syndrome
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes.
|
24611592 |
2014 |
Bardet-Biedl Syndrome
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12).
|
25533820 |
2014 |
Bardet-Biedl Syndrome
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
|
23591405 |
2014 |
Bardet-Biedl Syndrome
|
0.180 |
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
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Molecular analysis of Bardet-Biedl syndrome families: report of 21 novel mutations in 10 genes.
|
21642631 |
2011 |
Bardet-Biedl Syndrome
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly.
|
20080638 |
2010 |
Bardet-Biedl Syndrome
|
0.180 |
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
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
|
20827784 |
2010 |
Bardet-Biedl Syndrome
|
0.180 |
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
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
While overlap between the MKKS and BBS phenotypes has previously been reported for cases with BBS6 mutations, we also observed MKKS phenotypes involving BBS10 and BBS12 and Alström-like phenotypes associated with mutations in BBS1, BBS2, BBS6, BBS7, BBS9, BBS10 and BBS12 for the first time.
|
20472660 |
2010 |
Bardet-Biedl Syndrome
|
0.180 |
GeneticVariation
|
disease |
BEFREE |
After performing linkage analysis on all 13 known loci, we found the disease phenotype of a Chinese family with BBS linked to a locus where BBS7 and BBS12 genes locate.
|
19093007 |
2008 |
Bardet-Biedl Syndrome
|
0.180 |
CausalMutation
|
disease |
CLINVAR |
Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.
|
17160889 |
2007 |
Bardet-Biedl Syndrome
|
0.180 |
GeneticVariation
|
disease |
CLINVAR |
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|
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