Functional Analysis of Retinitis Pigmentosa 2 (RP2) Protein Reveals Variable Pathogenic Potential of Disease-Associated Missense Variants

RP2 Phenotype and Pathogenetic Correlations in X-Linked Retinitis Pigmentosa

(2010) Thiran Jayasundera   ARCHIVES OF OPHTHALMOLOGY

Interaction and Localization of the Retinitis Pigmentosa Protein RP2 and NSF in Retinal Photoreceptor Cells

(2010) Juha M. Holopainen et al.   BIOCHEMISTRY

The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development

(2010) Toby Hurd et al.   HUMAN MOLECULAR GENETICS

TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein

(2010) Christina F. Chakarova et al.   HUMAN MOLECULAR GENETICS

The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium

(2010) R. Jane Evans et al.   HUMAN MOLECULAR GENETICS

Diffusion of a soluble protein, photoactivatable GFP, through a sensory cilium

(2010) Peter D. Calvert et al.   JOURNAL OF GENERAL PHYSIOLOGY

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

(2010) Edgar A Otto et al.   NATURE GENETICS

Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait

(2010) Alan F. Wright et al.   NATURE REVIEWS GENETICS

Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

(2010) N. A. Zaghloul et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development

(2009) Amiya K. Ghosh et al.   HUMAN MOLECULAR GENETICS

The power of the zebrafish for disease analysis

(2009) P. W. Ingham   HUMAN MOLECULAR GENETICS

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

(2009) Hemant Khanna et al.   NATURE GENETICS