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Page 1
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
O'Toole JF, Liu Y, Davis EE, Westlake CJ, Attanasio M, Otto EA, Seelow D, Nurnberg G, Becker C, Nuutinen M, Kärppä M, Ignatius J, Uusimaa J, Pakanen S, Jaakkola E, van den Heuvel LP, Fehrenbach H, Wiggins R, Goyal M, Zhou W, Wolf MT, Wise E, Helou J, Allen SJ, Murga-Zamalloa CA, Ashraf S, Chaki M, Heeringa S, Chernin G, Hoskins BE, Chaib H, Gleeson J, Kusakabe T, Suzuki T, Isaac RE, Quarmby LM, Tennant B, Fujioka H, Tuominen H, Hassinen I, Lohi H, van Houten JL, Rotig A, Sayer JA, Rolinski B, Freisinger P, Madhavan SM, Herzer M, Madignier F, Prokisch H, Nurnberg P, Jackson PK, Khanna H, Katsanis N, Hildebrandt F. O'Toole JF, et al. Among authors: quarmby lm. J Clin Invest. 2010 Mar;120(3):791-802. doi: 10.1172/JCI40076. Epub 2010 Feb 22. J Clin Invest. 2010. PMID: 20179356 Free PMC article.
Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins.
Bialas NJ, Inglis PN, Li C, Robinson JF, Parker JD, Healey MP, Davis EE, Inglis CD, Toivonen T, Cottell DC, Blacque OE, Quarmby LM, Katsanis N, Leroux MR. Bialas NJ, et al. Among authors: quarmby lm. J Cell Sci. 2009 Mar 1;122(Pt 5):611-24. doi: 10.1242/jcs.028621. Epub 2009 Feb 10. J Cell Sci. 2009. PMID: 19208769 Free PMC article.
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: quarmby lm. Genes Dev. 2004 Jul 1;18(13):1630-42. doi: 10.1101/gad.1194004. Genes Dev. 2004. PMID: 15231740 Free PMC article.
Cilia and the cell cycle?
Quarmby LM, Parker JD. Quarmby LM, et al. J Cell Biol. 2005 Jun 6;169(5):707-10. doi: 10.1083/jcb.200503053. Epub 2005 May 31. J Cell Biol. 2005. PMID: 15928206 Free PMC article. Review.
53 results