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A pair of heterozygous nonsense mutations in BBS2 gene was identified in the proband, one being novel and the other recurrent. The novel mutation, p.Y644X, resides in exon 16 and was also found in the heterozygous state in the mother
we report here, for the first time, in Indian population, a novel, different profile of mutations in BBS genes (BBS3 (show ARL6 Antibodies), BBS9 (show BBS9 Antibodies), BBS10 (show BBS10 Antibodies) and BBS2) compared to worldwide (BBS1 (show BBS1 Antibodies) and 10) reports.
Our study shows that BBS2 mutations can cause nonsyndromic retinitis pigmentosa and highlights yet another candidate for this genetically heterogeneous condition.
Novel mutation (c.115+5G>A) in BBS2 found in Tunisian families with Bardet-Biedl syndrome.
Carrier frequency has been determined for two BBS2 mutations present in the Ashkenazi Jewish population.
Sequence analysis and subsequent RNA studies identified and confirmed a novel splice site mutation, c.472-2A>G, in BBS2. This mutation was also found in homozygous form in three subsequently studied Hutterite BBS patients from two different leuts.
Identification of a novel Bardet-Biedl syndrome protein, BBS7 (show BBS7 Antibodies), that shares structural features with this protein.
The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype.
A novel missense mutation found in BBS2 exon 4 and a novel intronic point mutation found in Bardet-Biedl syndrome patients.
BBS2 and BBS4 localized to cellular structures associated with motile cilia.
Bbs1 (show BBS1 Antibodies), Bbs2, and Bbs4 (show BBS4 Antibodies) proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.
Data implicate Bardet-Biedl syndrome genes in the regulation of vascular function and demonstrate that disrupting Bbs2 and Bbs6 (show MKKS Antibodies) genes affect differentially the vascular function.
mice lacking Bbs2 gene expression have phenotypes associated with cilia dysfunction, including retinopathy, renal cysts, male infertility, and a deficit in olfaction
Although BBS proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1 (show BBS1 Antibodies), Bbs2, Bbs4 (show BBS4 Antibodies), and Bbs6 (show MKKS Antibodies) mutant mice.
a lack of ciliary localization of somatostatin receptor type 3 (Sstr3 (show SSTR3 Antibodies)) and melanin-concentrating hormone receptor 1 (Mchr1 (show MCHR1 Antibodies)) in neurons from mice lacking the Bbs2 or Bbs4 (show BBS4 Antibodies) gene
Bardet-Biedl syndrome (BBS) proteins mediate LepR (show LEPR Antibodies) trafficking and that impaired LepR (show LEPR Antibodies) signaling underlies energy imbalance in BBS.
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, 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 forms a multiprotein BBSome complex with six other BBS proteins.
Bardet-Biedl syndrome 2 protein homolog
, Bardet-Biedl syndrome 2
, Bardet-Biedl syndrome 2 protein
, bardet-biedl syndrome 2
, bardet-Biedl syndrome 2 protein-like
, Bardet-Biedl syndrome 2 homolog