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anti-Human BBS1 Antibodies:
anti-Rat (Rattus) BBS1 Antibodies:
anti-Mouse (Murine) BBS1 Antibodies:
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Loss-of-function of bbs1 or bbs3 (show ARL6 Antibodies) in zebrafish results in the same phenotypes as knockdown of other Bardet-Biedl syndrome genes.
loss of BBS1, BBS4 (show BBS4 Antibodies), or OFD1 led to decreased NF-kappaB (show NFKB1 Antibodies) activity and concomitant IkappaBbeta (show NFKBIB Antibodies) accumulation and that these defects were ameliorated with SFN (show SFN Antibodies) treatment.
Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67 (show TMEM67 Antibodies)/RPGRIP1L (show RPGRIP1L Antibodies) and TMEM138 (show TMEM138 Antibodies)/BBS1, respectively).
M390R mutation in BBS1 reduces surface expression of insulin receptor (show INSR Antibodies) in fibroblasts derived from BBS (show BBS2 Antibodies) patients.
BBS1 emerged as a novel predictor of overall survival in MPM.
Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 (show BBS10 Antibodies) and other BBS1 mutations.
We report a case in which whole-exome sequencing in a patient previously suspected to have Usher syndrome revealed disease-causing mutations in BBS1 and SLC26A4 (show SLC26A4 Antibodies).
A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome.
novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain
Results show that BBS1 and BBS3 (show ARL6 Antibodies) regulates the ciliary traficking of PC1 (show PCSK1 Antibodies).
mediates endosomal recycling, sorting and signal transduction of Notch (show NOTCH1 Antibodies) receptors
Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome.
BBS1 protein plays a role in energy homeostasis by mediating the transport of the leptin receptor (show LEPR Antibodies) to the plasma membrane.
Bbs1, Bbs2 (show BBS2 Antibodies), and Bbs4 (show BBS4 Antibodies) proteins (BBSome) are bona fide constituents of intraflagellar transport in olfactory sensory neurons.
deletions of Bbs1 or Bbs4 (show BBS4 Antibodies) affected the olfactory epithelium, causing severe reduction of the ciliated border, disorganization of the dendritic microtubule network and trapping of olfactory ciliary proteins in dendrites and cell bodies.
ablation of BBS1 and BBS4 leads to alterations of s.c. sensory innervation and trafficking of the thermosensory channel TRPV1 and the mechanosensory channel STOML3
Although BBS (show BBS2 Antibodies) proteins were not required for ciliogenesis, their loss caused structural defects in a fraction of cilia covering mouse airway epithelia in Bbs1, Bbs2 (show BBS2 Antibodies), Bbs4 (show BBS4 Antibodies), and Bbs6 (show MKKS Antibodies) mutant mice.
Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development.
Bardet-Biedl syndrome 1 protein
, bardet-biedl syndrome 1
, Bardet-Biedl syndrome 1
, BBS2-like protein 2
, Bardet-Biedl syndrome 1 homolog