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Loss of C. elegans BBS-7 and BBS-8 protein function results in cilia defects and compromised intraflagellar transport.
Blacque OE, Reardon MJ, Li C, McCarthy J, Mahjoub MR, Ansley SJ, Badano JL, Mah AK, Beales PL, Davidson WS, Johnsen RC, Audeh M, Plasterk RH, Baillie DL, Katsanis N, Quarmby LM, Wicks SR, Leroux MR. Blacque OE, et al. Among authors: davidson ws. Genes Dev. 2004 Jul 1;18(13):1630-42. doi: 10.1101/gad.1194004. Genes Dev. 2004. PMID: 15231740 Free PMC article.
Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Fan Y, Esmail MA, Ansley SJ, Blacque OE, Boroevich K, Ross AJ, Moore SJ, Badano JL, May-Simera H, Compton DS, Green JS, Lewis RA, van Haelst MM, Parfrey PS, Baillie DL, Beales PL, Katsanis N, Davidson WS, Leroux MR. Fan Y, et al. Among authors: davidson ws. Nat Genet. 2004 Sep;36(9):989-93. doi: 10.1038/ng1414. Epub 2004 Aug 15. Nat Genet. 2004. PMID: 15314642
Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene.
Li JB, Gerdes JM, Haycraft CJ, Fan Y, Teslovich TM, May-Simera H, Li H, Blacque OE, Li L, Leitch CC, Lewis RA, Green JS, Parfrey PS, Leroux MR, Davidson WS, Beales PL, Guay-Woodford LM, Yoder BK, Stormo GD, Katsanis N, Dutcher SK. Li JB, et al. Among authors: davidson ws. Cell. 2004 May 14;117(4):541-52. doi: 10.1016/s0092-8674(04)00450-7. Cell. 2004. PMID: 15137946 Free article.
Genetic and mutational analyses of a large multiethnic Bardet-Biedl cohort reveal a minor involvement of BBS6 and delineate the critical intervals of other loci.
Beales PL, Katsanis N, Lewis RA, Ansley SJ, Elcioglu N, Raza J, Woods MO, Green JS, Parfrey PS, Davidson WS, Lupski JR. Beales PL, et al. Among authors: davidson ws. Am J Hum Genet. 2001 Mar;68(3):606-16. doi: 10.1086/318794. Epub 2001 Feb 1. Am J Hum Genet. 2001. PMID: 11179009 Free PMC article.
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.
Moore SJ, Green JS, Fan Y, Bhogal AK, Dicks E, Fernandez BA, Stefanelli M, Murphy C, Cramer BC, Dean JC, Beales PL, Katsanis N, Bassett AS, Davidson WS, Parfrey PS. Moore SJ, et al. Among authors: davidson ws. Am J Med Genet A. 2005 Feb 1;132A(4):352-60. doi: 10.1002/ajmg.a.30406. Am J Med Genet A. 2005. PMID: 15637713 Free PMC article.
Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population.
Fan Y, Rahman P, Peddle L, Hefferton D, Gladney N, Moore SJ, Green JS, Parfrey PS, Davidson WS. Fan Y, et al. Among authors: davidson ws. Int J Obes Relat Metab Disord. 2004 May;28(5):680-4. doi: 10.1038/sj.ijo.0802601. Int J Obes Relat Metab Disord. 2004. PMID: 14993910
346 results