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

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.

PloS one - 1 Jan 2016

Blanco-Kelly Fiona, García Hoyos María, Lopez Martinez Miguel Angel, Lopez-Molina Maria Isabel, Riveiro-Alvarez Rosa, Fernandez-San Jose Patricia, Avila-Fernandez Almudena, Corton Marta, Millan Jose M, García Sandoval Blanca, Ayuso Carmen

Abstract excerpt

IMPORTANCE: This research is the single largest NR2E3 genotype-phenotype correlation study performed to date in autosomal dominant Retinitis Pigmentosa. OBJECTIVE: The aim of this study is to analyse the frequency of the p.Gly56Arg mutation in NR2E3 for the largest cohort of autosomal dominant Retinitis Pigmentosa patients to date and its associated phenotype. PATIENTS AND METHODS: A cohort of 201 unrelated...

Read the complete abstract on PubMed

Topics

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

Share to Electroretinography
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Haplotypes

Share to Orphan Nuclear Receptors

Share to Pedigree

Share to Retinitis Pigmentosa

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 26910043
DOI: 10.1371/journal.pone.0149473
PMCID: PMC4766102

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Dominant Retinitis Pigmentosa, p.Gly56Arg Mutation in NR2E3: Phenotype in a Large Cohort of 24 Cases.PMID 26910043Read ↗

The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy.Semantic proximity Read ↗

NR2E3 mutations in enhanced S-cone sensitivity syndrome (ESCS), Goldmann-Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP).Semantic proximity Read ↗

Association of NR2E3 but not NRL mutations with retinitis pigmentosa in the Chinese population.Semantic proximity Read ↗

Reclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family.Semantic proximity Read ↗

Novel Pathogenic Sequence Variants in NR2E3 and Clinical Findings in Three Patients.Semantic proximity Read ↗

A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani familySemantic proximity Read ↗

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.Semantic proximity Read ↗

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.Semantic proximity Read ↗

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.Semantic proximity Read ↗

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated populationSemantic proximity Read ↗

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