Associated Papers
Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Gong X et al.
Investigative Ophthalmology & Visual Science, 2025
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female Carriers.
Georgiou M et al.
American Journal of Ophthalmology, 2024
Highly efficient capture approach for the identification of diverse inherited retinal disorders.
Kao HJ et al.
Npj Genomic Medicine, 2024
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
Schlottmann PG et al.
Npj Genomic Medicine, 2023
Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.
Lee BJH et al.
Ophthalmic Genetics, 2023
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
A Natural History Study of RP2-Related Retinopathy.
Cheloni R et al.
Journal of Clinical Medicine, 2022
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
Fujinami K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.
Dan H et al.
Molecular Genetics & Genomic Medicine, 2020
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Zhang J et al.
Gene, 2019
Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing.
Zhou L et al.
Experimental Eye Research, 2018
Diagnostic exome sequencing in 266 Dutch patients with visual impairment.
Haer-Wigman L et al.
European Journal of Human Genetics : Ejhg, 2017
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu F et al.
The Journal of Biological Chemistry, 2017
Molecular findings from 537 individuals with inherited retinal disease.
Ellingford JM et al.
Journal of Medical Genetics, 2016
Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.
Raghupathy RK et al.
Zebrafish, 2013
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
Schwarz N et al.
Human Molecular Genetics, 2012
The role of the X-linked retinitis pigmentosa protein RP2 in vesicle traffic and cilia function.
Schwarz N et al.
Advances in Experimental Medicine and Biology, 2012
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.
Hurd TW et al.
Journal of Cell Science, 2011
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.
Patil SB et al.
Plos One, 2011
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
Hurd T et al.
Human Molecular Genetics, 2010
Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.
Holopainen JM et al.
Biochemistry, 2010
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.
Evans RJ et al.
Human Molecular Genetics, 2010
Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.
Ji Y et al.
Current Eye Research, 2010
Molecular chaperones and photoreceptor function.
Kosmaoglou M et al.
Progress in Retinal and Eye Research, 2008
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.
Veltel S et al.
Nature Structural & Molecular Biology, 2008
A population-based epidemiological and genetic study of X-linked retinitis pigmentosa.
Prokisch H et al.
Investigative Ophthalmology & Visual Science, 2007
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.
Pelletier V et al.
Human Mutation, 2007
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.
Kühnel K et al.
Structure (london, England : 1993), 2006
Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa.
Evans RJ et al.
Methods in Enzymology, 2005
Crystal structure of the actin binding domain of the cyclase-associated protein.
Dodatko T et al.
Biochemistry, 2004
An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.
Dandekar SS et al.
The British Journal of Ophthalmology, 2004
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D et al.
American Journal of Human Genetics, 2003
Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.
Grayson C et al.
Human Molecular Genetics, 2002
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
Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.
Chapple JP et al.
Investigative Ophthalmology & Visual Science, 2002
Functional overlap between retinitis pigmentosa 2 protein and the tubulin-specific chaperone cofactor C.
Bartolini F et al.
The Journal of Biological Chemistry, 2002
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG et al.
Human Mutation, 2001
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
Schwahn U et al.
Human Molecular Genetics, 2001
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.
Chapple JP et al.
Human Molecular Genetics, 2000
Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).
Rosenberg T et al.
Ophthalmic Genetics, 1999
Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.
Mears AJ et al.
American Journal of Human Genetics, 1999
Genotypic and phenotypic characterisation of RP2- and RPGR-associated X-linked inherited retinal dystrophy, including female manifestations.
Kuruvilla SE et al.
Clinical & Experimental Ophthalmology, 0