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Article

Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.

Investigative ophthalmology & visual science - 15 Jul 2011

Wright Rachel N, Hong Dong-Hyun, Perkins Brian

Abstract excerpt

PURPOSE: Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are a frequent cause of X-linked retinitis pigmentosa. The RPGR transcript undergoes complex alternative splicing to express both constitutive (Rpgr(ex1-19)) and Rpgr(ORF15) variants. Both variants localize to photoreceptor connecting cilia and are believed to play roles in ciliary function. This study examined variability in isoform...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 21546531
DOI: 10.1167/iovs.11-7470
PMCID: PMC3176051

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.PMID 21546531Read ↗

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).Semantic proximity Read ↗

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.Semantic proximity Read ↗

Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).Semantic proximity Read ↗

Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15.Semantic proximity Read ↗

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.Semantic proximity Read ↗

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).Semantic proximity Read ↗

Identification and characterization of a novel RPGR isoform in human retina.Semantic proximity Read ↗

RPGR-associated retinal degeneration in human X-linked RP and a murine model.Semantic proximity Read ↗

The human-specific <i>RPGR</i> isoform <i> RPGR <sup>s14/15</sup> </i> and the clinically approved Rho/ROCK inhibitor Ripasudil represent therapeutic options to address <i>RPGR</i> -associated defectsSemantic proximity Read ↗

Restoration of RPGR expression in vivo using CRISPR/Cas9 gene editing.Semantic proximity Read ↗

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Defining a Novel RPGR Phenotype of Sector Retinitis Pigmentosa With Cone Dystrophy.Semantic proximity Read ↗

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