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anti-Human BBS2 Antikörper:
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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, BBS9 (zeige BBS9 Antikörper), BBS10 (zeige BBS10 Antikörper) and BBS2) compared to worldwide (BBS1 (zeige BBS1 Antikörper) 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 (zeige BBS7 Antikörper), 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 (zeige BBS1 Antikörper), Bbs2, and Bbs4 (zeige BBS4 Antikörper) 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 (zeige MKKS Antikörper) 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 (zeige BBS1 Antikörper), Bbs2, Bbs4 (zeige BBS4 Antikörper), and Bbs6 (zeige MKKS Antikörper) mutant mice.
a lack of ciliary localization of somatostatin receptor type 3 (Sstr3 (zeige SSTR3 Antikörper)) and melanin-concentrating hormone receptor 1 (Mchr1 (zeige MCHR1 Antikörper)) in neurons from mice lacking the Bbs2 or Bbs4 (zeige BBS4 Antikörper) gene
Bardet-Biedl syndrome (BBS) proteins mediate LepR (zeige LEPR Antikörper) trafficking and that impaired LepR (zeige LEPR Antikörper) 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