The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome-Reference-Cited by-同舟云学术

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Published:2007-06-10 Issue:7 Volume:39 Page:875-881
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Delous Marion,Baala Lekbir,Salomon Rémi,Laclef Christine,Vierkotten Jeanette,Tory Kàlmàn,Golzio Christelle,Lacoste Tiphanie,Besse Laurianne,Ozilou Catherine,Moutkine Imane,Hellman Nathan E,Anselme Isabelle,Silbermann Flora,Vesque Christine,Gerhardt Christoph,Rattenberry Eleanor,Wolf Matthias T F,Gubler Marie Claire,Martinovic Jéléna,Encha-Razavi Féréchté,Boddaert Nathalie,Gonzales Marie,Macher Marie Alice,Nivet Hubert,Champion Gérard,Berthélémé Jean Pierre,Niaudet Patrick,McDonald Fiona,Hildebrandt Friedhelm,Johnson Colin A,Vekemans Michel,Antignac Corinne,Rüther Ulrich,Schneider-Maunoury Sylvie,Attié-Bitach Tania,Saunier Sophie

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng2039.pdf

Reference30 articles.

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2. Patel, S. & Barkovich, A.J. Analysis and classification of cerebellar malformations. AJNR Am. J. Neuroradiol. 23, 1074–1087 (2002).

3. Saunier, S., Salomon, R. & Antignac, C. Nephronophthisis. Curr. Opin. Genet. Dev. 15, 324–331 (2005).

4. Valente, E.M. et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38, 623–625 (2006).

5. Sayer, J.A. et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38, 674–681 (2006).

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