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

Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa.

Ophthalmic surgery, lasers & imaging retina - 1 Jul 2018

Sengillo Jesse D, Fridman Gabrielle, Cho Galaxy Y, Buchovecky Christie, Tsang Stephen H

Abstract excerpt

The majority of X-linked retinitis pigmentosa (XLRP) is due to mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene. Determining the pathogenicity of novel variants is important for enrollment of patients into gene therapy trials. Sequencing and analysis of RPGR variants in ORF15 is challenging, as it is highly repetitive and rich in purines. Overlapping reading frames and polymorphic insertions /...

Read the complete abstract on PubMed

Topics

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

Share to Carrier State
Share to Ciliary Motility Disorders

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electroretinography

Share to Exome Sequencing

Share to Eye Proteins

Share to Retinitis Pigmentosa

Share to Tomography, Optical Coherence

Share to Visual Acuity

Source

Identifiers

PMID: 30021045
DOI: 10.3928/23258160-20180628-14

Genes

RPGR

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa.PMID 30021045Read ↗

RPGR mutation analysis and disease: an update.Semantic proximity Read ↗

A novel mutation in retinitis pigmentosa GTPase regulator gene with a distinctive retinitis pigmentosa phenotype in a Chinese family.Semantic proximity Read ↗

Detailed comparison of phenotype between male patients carrying variants in exons 1-14 and ORF15 of RPGR.Semantic proximity Read ↗

Homozygous females for a X-linked RPGR-ORF15 mutation in an Iranian family with retinitis pigmentosa.Semantic proximity Read ↗

Identification of novel X-linked gain-of-function RPGR-ORF15 mutation in Italian family with retinitis pigmentosa and pathologic myopia.Semantic proximity Read ↗

Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.Semantic proximity Read ↗

Clinical and genetic characteristics of 14 patients from 13 Japanese families with RPGR-associated retinal disorder: report of eight novel variantsSemantic proximity Read ↗

Association of a Novel Intronic Variant in RPGR With Hypomorphic Phenotype of X-Linked Retinitis Pigmentosa.Semantic proximity Read ↗

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

Genotype–Phenotype Analysis of RPGR Variations: Reporting of 62 Chinese Families and a Literature ReviewSemantic proximity Read ↗

Identification of a novel RPGR exon ORF15 mutation in a family with X-linked retinitis pigmentosa.Semantic proximity Read ↗

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

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