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Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1).
Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Lüleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: bugge k. Am J Hum Genet. 2003 Feb;72(2):429-37. doi: 10.1086/346172. Epub 2003 Jan 10. Am J Hum Genet. 2003. PMID: 12524598 Free PMC article.
BBS7 is required for BBSome formation and its absence in mice results in Bardet-Biedl syndrome phenotypes and selective abnormalities in membrane protein trafficking.
Zhang Q, Nishimura D, Vogel T, Shao J, Swiderski R, Yin T, Searby C, Carter CS, Kim G, Bugge K, Stone EM, Sheffield VC. Zhang Q, et al. Among authors: bugge k. J Cell Sci. 2013 Jun 1;126(Pt 11):2372-80. doi: 10.1242/jcs.111740. Epub 2013 Apr 9. J Cell Sci. 2013. PMID: 23572516 Free PMC article.
BBS mutations modify phenotypic expression of CEP290-related ciliopathies.
Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC. Zhang Y, et al. Among authors: bugge k. Hum Mol Genet. 2014 Jan 1;23(1):40-51. doi: 10.1093/hmg/ddt394. Epub 2013 Aug 13. Hum Mol Genet. 2014. PMID: 23943788 Free PMC article.
59 results