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Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Duquesnoy P, Escudier E, Vincensini L, Freshour J, Bridoux AM, Coste A, Deschildre A, de Blic J, Legendre M, Montantin G, Tenreiro H, Vojtek AM, Loussert C, Clément A, Escalier D, Bastin P, Mitchell DR, Amselem S. Duquesnoy P, et al. Among authors: bastin p. Am J Hum Genet. 2009 Dec;85(6):890-6. doi: 10.1016/j.ajhg.2009.11.008. Am J Hum Genet. 2009. PMID: 19944405 Free PMC article.
1001 model organisms to study cilia and flagella.
Vincensini L, Blisnick T, Bastin P. Vincensini L, et al. Among authors: bastin p. Biol Cell. 2011 Mar;103(3):109-30. doi: 10.1042/BC20100104. Biol Cell. 2011. PMID: 21275904 Review.
Proteomic analysis of intact flagella of procyclic Trypanosoma brucei cells identifies novel flagellar proteins with unique sub-localization and dynamics.
Subota I, Julkowska D, Vincensini L, Reeg N, Buisson J, Blisnick T, Huet D, Perrot S, Santi-Rocca J, Duchateau M, Hourdel V, Rousselle JC, Cayet N, Namane A, Chamot-Rooke J, Bastin P. Subota I, et al. Among authors: bastin p. Mol Cell Proteomics. 2014 Jul;13(7):1769-86. doi: 10.1074/mcp.M113.033357. Epub 2014 Apr 16. Mol Cell Proteomics. 2014. PMID: 24741115 Free PMC article.
Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects.
Bonnefoy S, Watson CM, Kernohan KD, Lemos M, Hutchinson S, Poulter JA, Crinnion LA, Berry I, Simmonds J, Vasudevan P, O'Callaghan C, Hirst RA, Rutman A, Huang L, Hartley T, Grynspan D, Moya E, Li C, Carr IM, Bonthron DT, Leroux M; Care4Rare Canada Consortium; Boycott KM, Bastin P, Sheridan EG. Bonnefoy S, et al. Among authors: bastin p. Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003. Am J Hum Genet. 2018. PMID: 30388400 Free PMC article.
103 results