CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290-Reference-Cited by-同舟云学术

CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290

Published:2008-11 Issue:5 Volume:83 Page:559-571
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Gorden Nicholas T.,Arts Heleen H.,Parisi Melissa A.,Coene Karlien L.M.,Letteboer Stef J.F.,van Beersum Sylvia E.C.,Mans Dorus A.,Hikida Abigail,Eckert Melissa,Knutzen Dana,Alswaid Abdulrahman F.,Özyurek Hamit,Dibooglu Sel,Otto Edgar A.,Liu Yangfan,Davis Erica E.,Hutter Carolyn M.,Bammler Theo K.,Farin Frederico M.,Dorschner Michael,Topçu Meral,Zackai Elaine H.,Rosenthal Phillip,Owens Kelly N.,Katsanis Nicholas,Vincent John B.,Hildebrandt Friedhelm,Rubel Edwin W.,Raible David W.,Knoers Nine V.A.M.,Chance Phillip F.,Roepman Ronald,Moens Cecilia B.,Glass Ian A.,Doherty Dan

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference46 articles.

1. Joubert syndrome (and related disorders) (OMIM 213300);Parisi;Eur. J. Hum. Genet.,2007

2. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis;Verloes;Am. J. Med. Genet.,1989

3. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome;Arts;Nat. Genet.,2007

4. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome;Delous;Nat. Genet.,2007

5. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4;Sayer;Nat. Genet.,2006

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