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TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.
Roberson EC, Dowdle WE, Ozanturk A, Garcia-Gonzalo FR, Li C, Halbritter J, Elkhartoufi N, Porath JD, Cope H, Ashley-Koch A, Gregory S, Thomas S, Sayer JA, Saunier S, Otto EA, Katsanis N, Davis EE, Attié-Bitach T, Hildebrandt F, Leroux MR, Reiter JF. Roberson EC, et al. Among authors: li c. J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087. J Cell Biol. 2015. PMID: 25869670 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: li c. 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.
MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone.
Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel AL, Gaillard D, Doray B, Lopez E, Rivière JB, Faivre L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM, Leroux MR. Li C, et al. PLoS Biol. 2016 Mar 16;14(3):e1002416. doi: 10.1371/journal.pbio.1002416. eCollection 2016 Mar. PLoS Biol. 2016. PMID: 26982032 Free PMC article.
Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.
Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV; UK10K Consortium; Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F. Halbritter J, et al. Among authors: li c. Am J Hum Genet. 2013 Nov 7;93(5):915-25. doi: 10.1016/j.ajhg.2013.09.012. Epub 2013 Oct 17. Am J Hum Genet. 2013. PMID: 24140113 Free PMC article.
PACRG, a protein linked to ciliary motility, mediates cellular signaling.
Loucks CM, Bialas NJ, Dekkers MP, Walker DS, Grundy LJ, Li C, Inglis PN, Kida K, Schafer WR, Blacque OE, Jansen G, Leroux MR. Loucks CM, et al. Among authors: li c. Mol Biol Cell. 2016 Jul 1;27(13):2133-44. doi: 10.1091/mbc.E15-07-0490. Epub 2016 May 18. Mol Biol Cell. 2016. PMID: 27193298 Free PMC article.
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