Associated Papers
Genotype-Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature Review.
Yang J et al.
Frontiers in Genetics, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
RPGR: Its role in photoreceptor physiology, human disease, and future therapies.
Megaw RD et al.
Experimental Eye Research, 2015
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
Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.
Murga-Zamalloa CA et al.
Human Molecular Genetics, 2010
Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.
Ghosh AK et al.
Human Molecular Genetics, 2010
RPGR and RP2: targets for the treatment of X-linked retinitis pigmentosa?
Veltel S et al.
Expert Opinion on Therapeutic Targets, 2009
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations.
Sandberg MA et al.
Investigative Ophthalmology & Visual Science, 2007
Developmental and tissue expression of Xenopus laevis RPGR.
Shu X et al.
Investigative Ophthalmology & Visual Science, 2006
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D et al.
American Journal of Human Genetics, 2003
Mutations of RPGR in X-linked retinitis pigmentosa (RP3).
Vervoort R et al.
Human Mutation, 2002
Identification of a novel protein interacting with RPGR.
Boylan JP et al.
Human Molecular Genetics, 2000
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa.
Miano MG et al.
European Journal of Human Genetics : Ejhg, 1999
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
Buraczynska M et al.
American Journal of Human Genetics, 1997