Bardet-Biedl Syndrome
|
0.480 |
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
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Here, we present the crystal structure of ARL6, mutations in which cause Bardet-Biedl syndrome (BBS3), and reveal its unique ring-like localization at the distal end of basal bodies, in proximity to the so-called ciliary gate where vesicles carrying ciliary cargo fuse with the membrane.
|
20207729 |
2010 |
Bardet-Biedl Syndrome
|
0.480 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
|
21282186 |
2011 |
Bardet-Biedl Syndrome
|
0.480 |
Biomarker
|
disease |
BEFREE |
That BBS is now known to be a disorder of cilia and basal body function has been facilitated by the recent discovery of the novel genes BBS3, 5, 7 and 8 (eight BBS genes in total) and confirmed by the generation of genetic model systems in mice, Chlamydomonas, Caenorhabditis elegans and Drosophila melanogaster.
|
15917208 |
2005 |
Bardet-Biedl Syndrome
|
0.480 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Functional analysis of BBS3 A89V that results in non-syndromic retinal degeneration.
|
21282186 |
2011 |
Bardet-Biedl Syndrome
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins.
|
15314642 |
2004 |
Bardet-Biedl Syndrome
|
0.480 |
GeneticVariation
|
disease |
LHGDN |
We uncovered four different homozygous substitutions in ARL6 in four unrelated families affected with Bardet-Biedl syndrome, two of which disrupt a threonine residue important for GTP binding and function of several related small GTP-binding proteins.
|
15314642 |
2004 |
Bardet-Biedl Syndrome
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Canadian Bardet-Biedl syndrome family reduces the critical region of BBS3 (3p) and presents with a variable phenotype.
|
9714014 |
1998 |
Bardet-Biedl Syndrome
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
BBS is genetically heterogeneous with four known loci: BBS1 (11q), BBS2 (16q), BBS3 (3p), and BBS4 (15q).
|
9888993 |
1999 |
Bardet-Biedl Syndrome
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Five BBS loci have been identified; among them, BBS type 1 (BBS1) and type 3 (BBS3) are most common and most rare, respectively.
|
11050632 |
2000 |
Bardet-Biedl Syndrome
|
0.480 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Bardet-Biedl Syndrome
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, all the BBS mutations in Arl6 result in low expression of the mutant proteins, which can be restored by the inhibition of the proteasome.
|
19236846 |
2009 |