Associated Papers
Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.
Cehajic-Kapetanovic J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Early Cone Photoreceptor Outer Segment Length Shortening in RPGR X-Linked Retinitis Pigmentosa.
Menghini M et al.
Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2021
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.
Jauregui R et al.
Scientific Reports, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Multimodal structural disease progression of retinitis pigmentosa according to mode of inheritance.
Jauregui R et al.
Scientific Reports, 2019
Disrupted Plasma Membrane Protein Homeostasis in a Xenopus Laevis Model of Retinitis Pigmentosa.
Ropelewski P et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2019
Disruption of RPGR protein interaction network is the common feature of RPGR missense variations that cause XLRP.
Zhang Q et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa.
Bellingrath JS et al.
Investigative Ophthalmology & Visual Science, 2017
MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA.
Schuerch K et al.
Retina (philadelphia, Pa.), 2016
Panel-Based Population Next-Generation Sequencing for Inherited Retinal Degenerations.
Carrigan M et al.
Scientific Reports, 2016
Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.
Sujirakul T et al.
American Journal of Ophthalmology, 2015
RPGR: Its role in photoreceptor physiology, human disease, and future therapies.
Megaw RD et al.
Experimental Eye Research, 2015
Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR.
Beltran WA et al.
Cold Spring Harbor Perspectives in Medicine, 2014
Cellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.
Pyo Park S et al.
European Journal of Human Genetics : Ejhg, 2013
Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.
Raghupathy RK et al.
Zebrafish, 2013
Structural and functional plasticity of subcellular tethering, targeting and processing of RPGRIP1 by RPGR isoforms.
Patil H et al.
Biology Open, 2012
Clinical course of cone dystrophy caused by mutations in the RPGR gene.
Thiadens AA et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2011
RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
Veltel S et al.
Expert Opinion on Therapeutic Targets, 2009
The human retinitis pigmentosa GTPase regulator gene variant database.
Shu X et al.
Human Mutation, 2008
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
Sandberg MA et al.
Investigative Ophthalmology & Visual Science, 2007
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
Zariwala MA et al.
American Journal of Respiratory and Critical Care Medicine, 2006
Rod and cone opsin mislocalization in an autopsy eye from a carrier of X-linked retinitis pigmentosa with a Gly436Asp mutation in the RPGR gene.
Adamian M et al.
American Journal of Ophthalmology, 2006
Developmental and tissue expression of Xenopus laevis RPGR.
Shu X et al.
Investigative Ophthalmology & Visual Science, 2006
Histopathologic-genotypic correlations in retinitis pigmentosa and allied diseases.
Ben-Arie-Weintrob Y et al.
Ophthalmic Genetics, 2005
A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
Breuer DK et al.
American Journal of Human Genetics, 2002
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Vervoort R et al.
Human Mutation, 2002
Five novel RPGR mutations in families with X-linked retinitis pigmentosa.
Guevara-Fujita M et al.
Human Mutation, 2001