CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290
- 23 October 2008
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 83 (5), 559-571
- https://doi.org/10.1016/j.ajhg.2008.10.002
Abstract
No abstract availableKeywords
This publication has 46 references indexed in Scilit:
- Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert SyndromeAmerican Journal of Human Genetics, 2008
- Identification of CC2D2A as a Meckel Syndrome Gene Adds an Important Piece to the Ciliopathy PuzzleAmerican Journal of Human Genetics, 2008
- CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal-Recessive Mental Retardation with Retinitis PigmentosaAmerican Journal of Human Genetics, 2008
- Identification of Genetic and Chemical Modulators of Zebrafish Mechanosensory Hair Cell DeathPLoS Genetics, 2008
- Cep164, a novel centriole appendage protein required for primary cilium formationThe Journal of cell biology, 2007
- Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel SyndromeAmerican Journal of Human Genetics, 2007
- The Meckel-Gruber Syndrome Gene, MKS3, Is Mutated in Joubert SyndromeAmerican Journal of Human Genetics, 2007
- Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital AmaurosisAmerican Journal of Human Genetics, 2006
- The ciliary proteome database: an integrated community resource for the genetic and functional dissection of ciliaNature Genetics, 2006
- Proteomic characterization of the human centrosome by protein correlation profilingNature, 2003