Biology:BBS1
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Short description: Protein
 Generic protein structure example |
Bardet–Biedl syndrome 1 protein is a protein that in humans is encoded by the BBS1 gene.[1][2][3] BBS1 is part of the BBSome complex, which required for ciliogenesis. Mutations in this gene have been observed in patients with the major form (type 1) of Bardet–Biedl syndrome.
History
References
- ↑ "Bardet–Biedl syndrome: a molecular and phenotypic study of 18 families". J Med Genet 34 (2): 92–8. May 1997. doi:10.1136/jmg.34.2.92. PMID 9039982.
- ↑ "Identification of a novel Bardet–Biedl syndrome protein, BBS7, that shares structural features with BBS1 and BBS2". Am J Hum Genet 72 (3): 650–8. Feb 2003. doi:10.1086/368204. PMID 12567324.
- ↑ "Entrez Gene: BBS1 Bardet–Biedl syndrome 1". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=582.
External links
External links
- Human BBS1 genome location and BBS1 gene details page in the UCSC Genome Browser.
Further reading
- "Delineation of the critical interval of Bardet–Biedl syndrome 1 (BBS1) to a small region of 11q13, through linkage and haplotype analysis of 91 pedigrees.". Am. J. Hum. Genet. 65 (6): 1672–9. 2000. doi:10.1086/302684. PMID 10577921.
- "A founder effect in the newfoundland population reduces the Bardet–Biedl syndrome I (BBS1) interval to 1 cM.". Am. J. Hum. Genet. 65 (6): 1680–7. 2000. doi:10.1086/302686. PMID 10577922.
- "Renal cancer and malformations in relatives of patients with Bardet-Biedl syndrome.". Nephrol. Dial. Transplant. 15 (12): 1977–85. 2001. doi:10.1093/ndt/15.12.1977. PMID 11096143.
- "Identification of the gene (BBS1) most commonly involved in Bardet–Biedl syndrome, a complex human obesity syndrome.". Nat. Genet. 31 (4): 435–8. 2002. doi:10.1038/ng935. PMID 12118255.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2003. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Evaluation of complex inheritance involving the most common Bardet–Biedl syndrome locus (BBS1).". Am. J. Hum. Genet. 72 (2): 429–37. 2003. doi:10.1086/346172. PMID 12524598.
- "Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet–Biedl syndrome.". Am. J. Hum. Genet. 72 (5): 1187–99. 2003. doi:10.1086/375178. PMID 12677556.
- "Heterozygous mutations in BBS1, BBS2 and BBS6 have a potential epistatic effect on Bardet–Biedl patients with two mutations at a second BBS locus.". Hum. Mol. Genet. 12 (14): 1651–9. 2003. doi:10.1093/hmg/ddg188. PMID 12837689.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet–Biedl syndrome.". Nat. Genet. 36 (9): 989–93. 2004. doi:10.1038/ng1414. PMID 15314642.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334.
- "Linkage disequilibrium mapping in the Newfoundland population: a re-evaluation of the refinement of the Bardet–Biedl syndrome 1 critical interval.". Hum. Genet. 116 (1–2): 62–71. 2005. doi:10.1007/s00439-004-1184-9. PMID 15517396.
- "Retinal disease expression in Bardet–Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration". Invest. Ophthalmol. Vis. Sci. 47 (11): 5004–10. 2006. doi:10.1167/iovs.06-0517. PMID 17065520.
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