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

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.

Ophthalmic genetics - 1 Jan 2000

Escher Pascal, Passarin Olga, Munier Francis L, Tran Viet H, Vaclavik Veronika

Abstract excerpt

PURPOSE: To expand the genotype/phenotype correlations in patients with autosomal dominant retinitis pigmentosa (adRP) harboring PRPF8 variants. MATERIALS AND METHODS: Two patients, a father and his daughter, harboring a novel p.PRPF8-Glu2331* variant, underwent ophthalmic examination at 3-year-interval, including fundus photography, fundus autofluorescence, optical coherence tomography, and ISCEV standard full...

Read the complete abstract on PubMed

Topics

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

Share to Fluorescein Angiography
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation, Missense

Share to Protein Conformation

Share to Retinitis Pigmentosa

Share to Ribonucleoproteins, Small Nuclear

Share to RNA-Binding Proteins

Share to Tomography, Optical Coherence

Source

Identifiers

PMID: 29087248
DOI: 10.1080/13816810.2017.1393825

Genes

PRPF8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variability in clinical phenotypes of PRPF8-linked autosomal dominant retinitis pigmentosa correlates with differential PRPF8/SNRNP200 interactions.PMID 29087248Read ↗

Autosomal dominant retinitis pigmentosa with intrafamilial variability and incomplete penetrance in two families carrying mutations in PRPF8.Semantic proximity Read ↗

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes.Semantic proximity Read ↗

Clinical phenotype of an Italian family with a new mutation in the PRPF8 gene.Semantic proximity Read ↗

Mutations in the gene coding for the pre-mRNA splicing factor, PRPF31, in patients with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Landscape of pathogenic variants in six pre-mRNA processing factor genes for retinitis pigmentosa based on large in-house data sets and database comparisons.Semantic proximity Read ↗

Mutation spectrum of PRPF31, genotype-phenotype correlation in retinitis pigmentosa, and opportunities for therapy.Semantic proximity Read ↗

Dominant retinitis pigmentosa phenotype associated with a new mutation in the splicing factor PRPF31.Semantic proximity Read ↗

Clinical and Genetic Findings in a Cohort of Patients with PRPF31-Associated Retinal Dystrophy.Semantic proximity Read ↗

Mutations in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31 in Spanish families with autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

Targeted Next Generation Sequencing Revealed Novel PRPF31 Mutations in Autosomal Dominant Retinitis Pigmentosa.Semantic proximity Read ↗

PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.Semantic proximity Read ↗

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