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

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.

American journal of human genetics - 10 Sept 2010

Li Lin, Nakaya Naoki, Chavali Venkata R M, Ma Zhiwei, Jiao Xiaodong, Sieving Paul A, Riazuddin Sheikh, Tomarev Stanislav I, Ayyagari Radha, Riazuddin S Amer, Hejtmancik J Fielding

Abstract excerpt

Retinitis pigmentosa (RP) is a phenotypically and genetically heterogeneous group of inherited retinal degenerations characterized clinically by night blindness, progressive constriction of the visual fields, and loss of vision, and pathologically by progressive loss of rod and then cone photoreceptors. Autosomal-recessive RP (arRP) in a consanguineous Pakistani family previously linked to chromosome 2p22.3-p24.1...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Lod Score

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutant Proteins

Share to Photoreceptor Cells, Vertebrate

Share to Retinal Cone Photoreceptor Cells

Share to Retinal Rod Photoreceptor Cells

Share to Retinitis Pigmentosa

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 20797688
DOI: 10.1016/j.ajhg.2010.08.003
PMCID: PMC2933346

Variants

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

A mutation in ZNF513, a putative regulator of photoreceptor development, causes autosomal-recessive retinitis pigmentosa.PMID 20797688Read ↗

A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa.Semantic proximity Read ↗

An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.Semantic proximity Read ↗

Homozygosity mapping reveals null mutations in FAM161A as a cause of autosomal-recessive retinitis pigmentosa.Semantic proximity Read ↗

Progressive Photoreceptor Dysfunction and Age-Related Macular Degeneration-Like Features in rp1l1 Mutant ZebrafishSemantic proximity Read ↗

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11.Semantic proximity Read ↗

Concurrent novel mutations in PAX3 and CFAP410 in a patient with Waardenburg syndrome type 1 associated with Retinitis Pigmentosa.Semantic proximity Read ↗

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy.Semantic proximity Read ↗

SLC7A14 linked to autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Autosomal recessive retinitis pigmentosa is associated with mutations in RP1 in three consanguineous Pakistani families.Semantic proximity Read ↗

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.Semantic proximity Read ↗

Mutations in the splicing regulator Prp31 lead to retinal degeneration in Drosophila.Semantic proximity Read ↗

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