BBS4


BBS4

Bardet-Biedl syndrome 4, also known as BBS4, is a human gene.cite web | title = Entrez Gene: BBS4 Bardet-Biedl syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a protein which contains tetratricopeptide repeats (TPR), similar to O-linked N-acetyglucosamine transferase. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 4. The encoded protein may play a role in pigmentary retinopathy, obesity, polydactyly, renal malformation and mental retardation.cite web | title = Entrez Gene: BBS4 Bardet-Biedl syndrome 4| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=585| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Haftek J, Krawczykowa Z, Stankiewicz A, "et al." |title= [Ocular manifestations in orbital fractures] |journal=Klinika oczna |volume=45 |issue= 6 |pages= 655–9 |year= 1975 |pmid= 1138127 |doi=
*cite journal | author=Carmi R, Rokhlina T, Kwitek-Black AE, "et al." |title=Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15. |journal=Hum. Mol. Genet. |volume=4 |issue= 1 |pages= 9–13 |year= 1995 |pmid= 7711739 |doi=
*cite journal | author=Bruford EA, Riise R, Teague PW, "et al." |title=Linkage mapping in 29 Bardet-Biedl syndrome families confirms loci in chromosomal regions 11q13, 15q22.3-q23, and 16q21. |journal=Genomics |volume=41 |issue= 1 |pages= 93–9 |year= 1997 |pmid= 9126487 |doi= 10.1006/geno.1997.4613
*cite journal | author=Mykytyn K, Braun T, Carmi R, "et al." |title=Identification of the gene that, when mutated, causes the human obesity syndrome BBS4. |journal=Nat. Genet. |volume=28 |issue= 2 |pages= 188–91 |year= 2001 |pmid= 11381270 |doi= 10.1038/88925
*cite journal | author=Katsanis N, Eichers ER, Ansley SJ, "et al." |title=BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance. |journal=Am. J. Hum. Genet. |volume=71 |issue= 1 |pages= 22–9 |year= 2002 |pmid= 12016587 |doi=
*cite journal | author=Riise R, Tornqvist K, Wright AF, "et al." |title=The phenotype in Norwegian patients with Bardet-Biedl syndrome with mutations in the BBS4 gene. |journal=Arch. Ophthalmol. |volume=120 |issue= 10 |pages= 1364–7 |year= 2002 |pmid= 12365916 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Hoskins BE, Thorn A, Scambler PJ, Beales PL |title=Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique. |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 151–7 |year= 2004 |pmid= 12872256 |doi= 10.1002/humu.10241
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Kim JC, Badano JL, Sibold S, "et al." |title=The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression. |journal=Nat. Genet. |volume=36 |issue= 5 |pages= 462–70 |year= 2004 |pmid= 15107855 |doi= 10.1038/ng1352
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Ye X, Dai J, Fang W, "et al." |title=Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4). |journal=DNA Seq. |volume=15 |issue= 3 |pages= 213–8 |year= 2005 |pmid= 15497446 |doi=
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209

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