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RPGR gene

Known as: CORDX1, RETINITIS PIGMENTOSA GTPase REGULATOR, RPGR 
National Institutes of Health

Related topics

Related topics

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CONE-ROD DYSTROPHY, X-LINKED, 1

Papers overview

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2018
2018
Development of a Reporter System to Explore MMEJ in the Context of Replacing Large Genomic Fragments
2014
2014
Population genetics of Cryptosporidium meleagridis in humans and birds: evidence for cross-species transmission.
2010
2010
Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas
Purpose Retinitis pigmentosa GTPase regulator (RPGR) is a cilia-centrosomal protein that frequently mutates in X-linked retinal… 
2007
2007
A non‐ancestral RPGR missense mutation in families with either recessive or semi‐dominant X‐linked retinitis pigmentosa
Most X‐linked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In X‐linked retinitis… 
2006
2006
Mutational analysis of RPGR and RP2 genes in Japanese patients with retinitis pigmentosa: identification of four mutations.
PURPOSE To identify mutations in RPGR and RP2 genes in a series of Japanese retinitis pigmentosa (RP) families and to determine… 
2006
2006
Mutational screening of the RP2 and RPGR genes in Spanish families with X-linked retinitis pigmentosa.
PURPOSE The X-linked form of retinitis pigmentosa (XLRP) is the most severe type because of its early onset and rapid progression… 
Highly Cited
2005
Highly Cited
2005
Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.
PURPOSE Retinitis pigmentosa GTPase regulator (RPGR) is a photoreceptor protein anchored in the connecting cilia by an RPGR… 
2003
2003
Phenotype in two families with RP3 associated with RPGR mutations
Objective: To describe the phenotype of three patients and two carriers from two families with mutations in the RPGR gene. The… 
2002
2002
Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.
X-linked retinitis pigmentosa comprises the severe forms of RP, with early onset of night blindness, rapid constriction of visual… 
1999
1999
Identification of a 5′ splice site mutation in the RPGR gene in a family with X‐linked retinitis pigmentosa (RP3)
We have identified a novel RPGR gene mutation in a large Dutch family with X‐linked retinitis pigmentosa (RP3). In affected… 
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