The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness

Discovery and Functional Analysis of a Retinitis Pigmentosa Gene, C2ORF71

(2010) Darryl Y. Nishimura et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CEP290, a gene with many faces: mutation overview and presentation of CEP290base

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

(2010) Pamela R. Pretorius et al.   PLoS Genetics

Different strategies for color change

(2009) S. Aspengren et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Cystic Kidney Gene seahorse Regulates Cilia-Mediated Processes and Wnt Pathways

(2008) Norihito Kishimoto et al.   DEVELOPMENTAL CELL

Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning

(2008) Marwan K. Tayeh et al.   HUMAN MOLECULAR GENETICS

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS

The intraflagellar transport protein IFT57 is required for cilia maintenance and regulates IFT-particle-kinesin-II dissociation in vertebrate photoreceptors

(2008) B. L. Krock et al.   JOURNAL OF CELL SCIENCE

Serotype-dependent packaging of large genes in adeno-associated viral vectors results in effective gene delivery in mice

(2008) Mariacarmela Allocca et al.   JOURNAL OF CLINICAL INVESTIGATION

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

(2008) Carmen C Leitch et al.   NATURE GENETICS

Restoration of renal function in zebrafish models of ciliopathies

(2008) Jonathan L. Tobin et al.   PEDIATRIC NEPHROLOGY

Leber congenital amaurosis: Genes, proteins and disease mechanisms

(2008) Anneke I. den Hollander et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

(2007) Valeska Frank et al.   HUMAN MUTATION

Spatial distribution of intraflagellar transport proteins in vertebrate photoreceptors

(2007) Katherine Luby-Phelps et al.   VISION RESEARCH