Recombinant Human Bardet-Biedl syndrome 1 protein (BBS1)

1. Importantly, one Japanese and one Omani families carried compound biallelic mutations in two distinct genes (TMEM67/RPGRIP1L and TMEM138/BBS1, respectively). PMID: 27434533
2. M390R mutation in BBS1 reduces surface expression of insulin receptor in fibroblasts derived from BBS patients. PMID: 26103456
3. BBS1 emerged as a novel predictor of overall survival in MPM. PMID: 26254420
4. Bardet-Biedl syndrome patients with missense mutations in BBS1 have lower biochemical cardiovascular disease markers compared with patients with BBS10 and other BBS1 mutations. PMID: 24611735
5. 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. PMID: 26022370
6. A homozygous BBS1 p.M390R mutation is associated with Bardet-Biedl syndrome. PMID: 25494902
7. novel BBS1 mutations in Bardet-Biedl syndrome patients in Spain PMID: 24611592
8. Results show that BBS1 and BBS3 regulates the ciliary traficking of PC1. PMID: 24939912
9. mediates endosomal recycling, sorting and signal transduction of Notch receptors PMID: 24681783
10. Novel mutations (c.1110G>A and c.39delA (p.G13fs*41)) in BBS1 found in Tunisian families with Bardet-Biedl syndrome. PMID: 23432027
11. loss of BBS1, BBS4, or OFD1 led to decreased NF-kappaB activity and concomitant IkappaBbeta accumulation and that these defects were ameliorated with SFN treatment. PMID: 24691443
12. Exome sequencing identified a novel homozygous mutation (c.47+1G>T) in BBS1 that inactivates the splice donor site at the end of exon 1. PMID: 23559858
13. Our findings confirm the consistent pathogenicity of the BBS1 M390R mutation in Bardet-Biedl syndrome in patients homozygous for the common M390R mutation in the BBS1 gene. PMID: 22940089
14. Variants in BBS1 are significantly associated with nonsyndromic autosomal recessive RP and relatively mild forms of BBS. PMID: 23143442
15. Patients with BBS1 mutations had a milder phenotype than did patients with mutations in other BBS genes. PMID: 22410627
16. this report describes the identification and characterization of a splice donor site mutation that leads to missplicing of BBS1 transcripts in Bardet-Biedl syndrome. PMID: 21520335
17. This protein has amino acid sequence homolgy with mice. Missense mutation accounts for about 80% of all BBS1 mutations on a similar genetic background across populations. PMID: 12524598
18. Identification of a novel Bardet-Biedl syndrome protein, BBS7, that shares structural features with this protein. PMID: 12567324
19. BBS1 participates in complex inheritance and in different families, mutations in BBS1 can interact genetically with mutations at each of the other known BBS genes, as well as at unknown loci, to cause the phenotype PMID: 12677556
20. The presence of three mutant alleles in the BBS family correlates with a more severe Bardet-Biedl phenotype. PMID: 12837689
21. disease-associated alleles occur at relatively high frequencies in normal haplotypes PMID: 15517396
22. The cardinal feature of retinal degeneration in BBS1 can show a wide spectrum of disease expression. PMID: 17065520
23. A novel BBS1 mutation was identified, most probably a founder mutation, further confirming the Faroe Islands as a genetic isolate. PMID: 18669544
24. Although neither proband fulfilled the typical criteria for BBS, this diagnosis was confirmed on mutation analysis. PMID: 18766993

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HGNC: 966

OMIM: 209900

KEGG: hsa:582

STRING: 9606.ENSP00000317469

UniGene: Hs.502915