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C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle.
Floriot S, Vesque C, Rodriguez S, Bourgain-Guglielmetti F, Karaiskou A, Gautier M, Duchesne A, Barbey S, Fritz S, Vasilescu A, Bertaud M, Moudjou M, Halliez S, Cormier-Daire V, Hokayem JE, Nigg EA, Manciaux L, Guatteo R, Cesbron N, Toutirais G, Eggen A, Schneider-Maunoury S, Boichard D, Sobczak-Thépot J, Schibler L. Floriot S, et al. Nat Commun. 2015 Apr 23;6:6894. doi: 10.1038/ncomms7894. Nat Commun. 2015. PMID: 25902731 Free PMC article.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. Delous M, et al. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558409
MKS-NPHP module proteins control ciliary shedding at the transition zone.
Gogendeau D, Lemullois M, Le Borgne P, Castelli M, Aubusson-Fleury A, Arnaiz O, Cohen J, Vesque C, Schneider-Maunoury S, Bouhouche K, Koll F, Tassin AM. Gogendeau D, et al. Among authors: schneider maunoury s. PLoS Biol. 2020 Mar 12;18(3):e3000640. doi: 10.1371/journal.pbio.3000640. eCollection 2020 Mar. PLoS Biol. 2020. PMID: 32163404 Free PMC article.
68 results