Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional characterization of the human RPGR proximal promoter.

Investigative ophthalmology & visual science - 26 Jun 2012

Shu Xinhua, Simpson Julie R, Hart Alan W, Zeng Zhihong, Patnaik Sarita Rani, Gautier Philippe, Murdoch Emma, Tulloch Brian, Wright Alan F

Abstract excerpt

PURPOSE: Mutations in the retinitis pigmentosa (RP) GTPase regulator (RPGR) gene account for more than 70% of X-linked RP cases. This study aims to characterize the proximal promoter region of the human RPGR gene. METHODS: The 5'-flanking region (5 kb) of human RPGR was cloned and sequenced. A potential transcription start site and transcription factor binding motifs were identified by bioinformatic analysis....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Retina
Share to Regulatory Sequences, Nucleic Acid

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Electrophoretic Mobility Shift Assay

Share to Eye Proteins

Share to Guanine Nucleotide Exchange Factors

Share to Mice, Transgenic

Share to Retinitis Pigmentosa

Share to Transcriptional Activation

Source

Identifiers

PMID: 22577079
DOI: 10.1167/iovs.11-8811

Genes

RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional characterization of the human RPGR proximal promoter.PMID 22577079Read ↗

Molecular Strategies for RPGR Gene TherapySemantic 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 ↗

Emerging gene therapy products for RPGR-associated X-linked retinitis pigmentosa.Semantic proximity Read ↗

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

Identification of a novel protein interacting with RPGR.Semantic proximity Read ↗

RPGR-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy.Semantic proximity Read ↗

Novel mutations of RPGR in Chinese retinitis pigmentosa patients and the genotype-phenotype correlation.Semantic proximity Read ↗

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.Semantic proximity Read ↗

Two novel mutations of the retinitis pigmentosa GTPase regulator gene in two Chinese families with X-linked retinitis pigmentosa.Semantic proximity Read ↗

Construction and Characterization of EGFP Reporter Plasmid Harboring Putative Human RAX Promoter for in Vitro Monitoring of Retinal Progenitor Cells IdentitySemantic proximity Read ↗

Construction and Characterization of EGFP Reporter Plasmid Harboring Putative Human RAX Promoter for in vitro Monitoring of Retinal Progenitor Cells IdentitySemantic proximity Read ↗

A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.