Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

A Role for the Primary Cilium in Notch Signaling and Epidermal Differentiation during Skin Development

(2011) Ellen J. Ezratty et al.   CELL

Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways

(2011) Liyun Sang et al.   CELL

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

(2011) Lisa M. Baye et al.   HUMAN MOLECULAR GENETICS

Accumulation of the Raf-1 Kinase Inhibitory Protein (Rkip) Is Associated with Cep290-mediated Photoreceptor Degeneration in Ciliopathies

(2011) Carlos A. Murga-Zamalloa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

(2011) Corey L. Williams et al.   JOURNAL OF CELL BIOLOGY

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

(2011) Karsten Boldt et al.   JOURNAL OF CLINICAL INVESTIGATION

Complex interactions between genes controlling trafficking in primary cilia

(2011) Polloneal Jymmiel R Ocbina et al.   NATURE GENETICS

Ciliogenesis: building the cell's antenna

(2011) Hiroaki Ishikawa et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Ciliary Trafficking: CEP290 Guards a Gated Community

(2010) Ewelina Betleja et al.   CURRENT BIOLOGY

Potential involvement of more than one locus in trait manifestation for individuals with Leber congenital amaurosis

(2010) Wojciech Wiszniewski et al.   HUMAN GENETICS

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

(2010) Frauke Coppieters et al.   HUMAN MUTATION

The Intraflagellar Transport Protein Ift80 Is Essential for Photoreceptor Survival in a Zebrafish Model of Jeune Asphyxiating Thoracic Dystrophy

(2010) L. M. Hudak et al.   INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE

CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content

(2010) Branch Craige et al.   JOURNAL OF CELL BIOLOGY

AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis

(2010) Carrie M Louie et al.   NATURE GENETICS

The primary cilium: a signalling centre during vertebrate development

(2010) Sarah C. Goetz et al.   NATURE REVIEWS GENETICS

BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly

(2010) S. Seo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Making sense of cilia in disease: The human ciliopathies

(2009) Kate Baker et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Centrioles, Centrosomes, and Cilia in Health and Disease

(2009) Erich A. Nigg et al.   CELL

Patterns of expression of Bardet-Biedl syndrome proteins in the mammalian cochlea suggest noncentrosomal functions

(2009) Helen L. May-Simera et al.   JOURNAL OF COMPARATIVE NEUROLOGY

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

(2009) Hemant Khanna et al.   NATURE GENETICS

Early defects in photoreceptor outer segment morphogenesis in zebrafish ift57, ift88 and ift172 Intraflagellar Transport mutants

(2009) Sujita Sukumaran et al.   VISION RESEARCH

Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease

(2009) Dan Doherty   Seminars in Pediatric Neurology

HA-tagging of putative flagellar proteins inChlamydomonas reinhardtiiidentifies a novel protein of intraflagellar transport complex B

(2009) Karl-Ferdinand Lechtreck et al.   CELL MOTILITY AND THE CYTOSKELETON

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

(2008) Nicholas T. Gorden et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CP110 Suppresses Primary Cilia Formation through Its Interaction with CEP290, a Protein Deficient in Human Ciliary Disease

(2008) William Y. Tsang et al.   DEVELOPMENTAL CELL

Genetic and physical interaction between the NPHP5 and NPHP6 gene products

(2008) Tobias Schäfer et al.   HUMAN MOLECULAR GENETICS

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium

(2008) Joon Kim et al.   HUMAN MOLECULAR GENETICS

Intraflagellar transport motors in cilia: moving along the cell's antenna

(2008) Jonathan M. Scholey   JOURNAL OF CELL BIOLOGY

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

The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear

(2008) Jessica R. Colantonio et al.   NATURE

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

(2008) Carmen C Leitch et al.   NATURE GENETICS

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