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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
Sang L, Miller JJ, Corbit KC, Giles RH, Brauer MJ, Otto EA, Baye LM, Wen X, Scales SJ, Kwong M, Huntzicker EG, Sfakianos MK, Sandoval W, Bazan JF, Kulkarni P, Garcia-Gonzalo FR, Seol AD, O'Toole JF, Held S, Reutter HM, Lane WS, Rafiq MA, Noor A, Ansar M, Devi AR, Sheffield VC, Slusarski DC, Vincent JB, Doherty DA, Hildebrandt F, Reiter JF, Jackson PK. Sang L, et al. Among authors: reiter jf. Cell. 2011 May 13;145(4):513-28. doi: 10.1016/j.cell.2011.04.019. Cell. 2011. PMID: 21565611 Free PMC article.
A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR, Seol AD, Robinson JF, Bennett CL, Josifova DJ, García-Verdugo JM, Katsanis N, Hildebrandt F, Reiter JF. Garcia-Gonzalo FR, et al. Among authors: reiter jf. Nat Genet. 2011 Jul 3;43(8):776-84. doi: 10.1038/ng.891. Nat Genet. 2011. PMID: 21725307 Free PMC article.
Disruption of a ciliary B9 protein complex causes Meckel syndrome.
Dowdle WE, Robinson JF, Kneist A, Sirerol-Piquer MS, Frints SG, Corbit KC, Zaghloul NA, van Lijnschoten G, Mulders L, Verver DE, Zerres K, Reed RR, Attié-Bitach T, Johnson CA, García-Verdugo JM, Katsanis N, Bergmann C, Reiter JF. Dowdle WE, et al. Among authors: reiter jf. Am J Hum Genet. 2011 Jul 15;89(1):94-110. doi: 10.1016/j.ajhg.2011.06.003. Am J Hum Genet. 2011. PMID: 21763481 Free PMC article.
113 results