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Bardet-Biedl syndrome 10

BBS10
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes. Mutations in this gene cause Bardet-Biedl syndrome type 10. [provided by RefSeq, Jan 2010] (from NCBI)
Top mentioned proteins: BBS, BBS1, Kms, BBS4, HAD
Papers on BBS10
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
New
Ozkinay et al., İzmir, Turkey. In Eur J Med Genet, Dec 2015
In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1).
Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families.
New
Valverde et al., Vigo, Spain. In J Med Genet, Aug 2015
METHODS: Thirty-seven families (52 cases) with mutations in BBS1 or chaperonin-like BBS genes (BBS6, BBS10, BBS12) from our Spanish cohort were enrolled.
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndrome.
New
Beales et al., London, United Kingdom. In Clin Genet, Apr 2015
Mutations in BBS1 and BBS10 account for more than half of those with molecular confirmation of the diagnosis.
Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice.
Marion et al., Strasbourg, France. In Cilia, 2014
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.
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Daly et al., Boston, United States. In Am J Hum Genet, 2014
In BBS10, we discovered a rare variant (c.1189A>G [p.Ile397Val]; rs202042386) that confers risk of T2D in a recessive state (p = 1.38 × 10(-6)) and would be missed by conventional methods.
Evaluation of visual function and needs in adult patients with bardet-biedl syndrome.
Tsaloumas et al., Birmingham, United Kingdom. In Retina, 2014
Bardet-Biedl syndrome mutations were identified in 51, most commonly BBS1 (n = 35), BBS2 (n = 6), and BBS10 (n = 5).
Mutation profile of BBS genes in Iranian patients with Bardet-Biedl syndrome: genetic characterization and report of nine novel mutations in five BBS genes.
Najmabadi et al., Tehrān, Iran. In J Hum Genet, 2014
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.
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
Chaabouni et al., Tunisia. In Clin Genet, 2014
Novel mutations included c.1110G>A and c.39delA (p.G13fs*41) in BBS1, c.115+5G>A in BBS2, c.1272+1G>A in BBS6, c.1181_1182insGCATTTATACC in BBS10 (p.S396Lfs*6).
A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome.
Peng et al., Beijing, China. In Chin Med J (engl), 2013
An additional rare heterozygous missense single nucleotide polymorphism (SNP) named rs200718870 in BBS10 gene was also detected in the proband, her father and her brother.
A novel homozygous 10 nucleotide deletion in BBS10 causes Bardet-Biedl syndrome in a Pakistani family.
Qamar et al., Islamabad, Pakistan. In Gene, 2013
Homozygous regions obtained from SNP array depicted three known genes BBS10, BBS14 and BBS2.
Novel homozygous mutations in the genes ARL6 and BBS10 underlying Bardet-Biedl syndrome.
Ahmad et al., Islamabad, Pakistan. In Gene, 2013
Two of these BBS1 and BBS10 are the most frequently mutated genes.
Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.
Sheffield et al., Iowa City, United States. In Plos One, 2012
To date, 17 different genes have been reported for BBS among which BBS1 is the most common cause of the disease followed by BBS10, and BBS4.
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.
Sheffield et al., Iowa City, United States. In J Biol Chem, 2012
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.
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
GeneRIF
Attie-Bitach et al., Paris, France. In J Med Genet, 2010
This study confirms the high frequency of BBS10 mutations, particularly of the p.Cys91LeufsX5 allele in Bardet-Biedl syndrome.
Two sibs with Bardet-Biedl syndrome due to mutations in BBS12: no clues for modulation by a third mutation in BBS10.
GeneRIF
van Essen et al., Groningen, Netherlands. In Am J Med Genet A, 2010
Mutation in BBS10 modulates Bardet-Biedl syndrome in a sibling.
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population.
GeneRIF
Héon et al., Toronto, Canada. In J Med Genet, 2010
Using sequence analysis, the role of BBS6, 10 and 12 was assessed in a Bardet-Biedl syndrome patient population comprising 93 cases from 74 families.
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation.
GeneRIF
Dollfus et al., Strasbourg, France. In Proc Natl Acad Sci U S A, 2009
the BBS10 and BBS12 proteins are located within the basal body of this primary cilium and inhibition of their expression impairs ciliogenesis, activates the GSK3 pathway, and induces PPAR nuclear accumulation, hence favoring adipogenesis
[Bardet-Biedl syndrome: a unique family for a major gene (BBS10)].
GeneRIF
Mandel et al., Strasbourg, France. In Med Sci (paris), 2006
Detected in a family with high consanguinity and Bardet-Biedl syndrome.
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus.
Impact
Dollfus et al., Strasbourg, France. In Nat Genet, 2006
Here we report a major new BBS locus, BBS10, that encodes a previously unknown, rapidly evolving vertebrate-specific chaperonin-like protein.
Bardet-Biedl Syndrome
Review
Beales et al., Seattle, United States. In Unknown Journal, 2003
At least 19 genes are associated with BBS: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1 (BBS18), and IFT27 (BBS19).
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