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

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.

Molecular vision - 24 Apr 2003

Bowne Sara J, Daiger Stephen P, Malone Kimberly A, Heckenlively John R, Kennan Avril, Humphries Peter, Hughbanks-Wheaton Dianna, Birch David G, Liu Qin, Pierce Eric A, Zuo Jian, Huang Qian, Donovan Danyel D, Sullivan Lori S

Abstract excerpt

PURPOSE: To determine the full-length sequence of a gene with similarity to RP1 and to screen for mutations in this newly characterized gene, named retinitis pigmentosa 1-like 1(RP1L1). Since mutations in the RP1 gene cause autosomal dominant retinitis pigmentosa, it is possible that mutations in RP1's most sequence similar relative, RP1L1, may also be a cause of inherited retinal degeneration. METHODS: A...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 8
Share to Electrophoresis, Agar Gel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Proteins

Share to Genes, Dominant

Share to In Situ Hybridization

Share to Microtubule-Associated Proteins

Share to Polymorphism, Single-Stranded Conformational

Share to Retinitis Pigmentosa

Source

Open in PubMed Open full text

Identifiers

PMID: 12724644
PMCID: PMC2580755

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene.PMID 12724644Read ↗

Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerationsSemantic proximity Read ↗

Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients.Semantic proximity Read ↗

RP1L1 variants are associated with a spectrum of inherited retinal diseases including retinitis pigmentosa and occult macular dystrophy.Semantic proximity Read ↗

RP1L1 and inherited photoreceptor disease: A review.Semantic proximity Read ↗

Differential pattern of RP1 mutations in retinitis pigmentosa.Semantic proximity Read ↗

RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation.Semantic proximity Read ↗

RP1 and retinitis pigmentosa: report of novel mutations and insight into mutational mechanism.Semantic proximity Read ↗

Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa.Semantic proximity Read ↗

Novel Heterozygous Variant in RP1L1 Gene With Retinitis Pigmentosa Phenotype: A Case Report.Semantic proximity Read ↗

Targeted Next-Generation Sequencing Reveals Novel RP1 Mutations in Autosomal Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

Clinical and genetic findings of a Japanese patient with RP1-related autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Phenotypic and Genotypic Characterization of RP1L1-Associated Retinopathy.Semantic proximity Read ↗

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