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Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Nishimura DY, Fath M, Mullins RF, Searby C, Andrews M, Davis R, Andorf JL, Mykytyn K, Swiderski RE, Yang B, Carmi R, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: carmi r. Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11. Proc Natl Acad Sci U S A. 2004. PMID: 15539463 Free PMC article.
Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11).
Chiang AP, Beck JS, Yen HJ, Tayeh MK, Scheetz TE, Swiderski RE, Nishimura DY, Braun TA, Kim KY, Huang J, Elbedour K, Carmi R, Slusarski DC, Casavant TL, Stone EM, Sheffield VC. Chiang AP, et al. Among authors: carmi r. Proc Natl Acad Sci U S A. 2006 Apr 18;103(16):6287-92. doi: 10.1073/pnas.0600158103. Epub 2006 Apr 10. Proc Natl Acad Sci U S A. 2006. PMID: 16606853 Free PMC article.
Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2).
Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Nishimura DY, et al. Among authors: carmi r. Hum Mol Genet. 2001 Apr 1;10(8):865-74. doi: 10.1093/hmg/10.8.865. Hum Mol Genet. 2001. PMID: 11285252
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, Lüleci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: carmi r. Nat Genet. 2002 Aug;31(4):435-8. doi: 10.1038/ng935. Epub 2002 Jul 15. Nat Genet. 2002. PMID: 12118255
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: carmi r. 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.
Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.
Mykytyn K, Braun T, Carmi R, Haider NB, Searby CC, Shastri M, Beck G, Wright AF, Iannaccone A, Elbedour K, Riise R, Baldi A, Raas-Rothschild A, Gorman SW, Duhl DM, Jacobson SG, Casavant T, Stone EM, Sheffield VC. Mykytyn K, et al. Among authors: carmi r. Nat Genet. 2001 Jun;28(2):188-91. doi: 10.1038/88925. Nat Genet. 2001. PMID: 11381270
139 results