ArticleAmerican journal of human genetics2010
Discovery and functional analysis of a retinitis pigmentosa gene, C2ORF71.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
48 citing papers in PubMed, 77 citations in OpenAlex.
- Cone-Rod DystrophyDiagnostics (Basel, Switzerland) · 2026Article
- Ciliary Defects in Inherited Retinal Diseases.Advanced genetics (Hoboken, N.J.) · 2026Review
- Genome loci with selection signatures revealed in a domesticated mandarin fish population.BMC genomics · 2025Article
- PCARE-Associated Retinopathy - Genetics, Clinical Characteristics, and Natural History.Investigative ophthalmology & visual science · 2025Article
- Photoreceptor Disc Morphogenesis: Who Are the Conductors of This Highly Metronomic Process?Advances in experimental medicine and biology · 2025Review
- Mutational Profile and Retinal Phenotypes ofJournal of ophthalmology · 2024Article
- Clinical and Molecular Aspects of C2orf71/PCARE in Retinal Diseases.International journal of molecular sciences · 2023Review
- Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies.Biomolecules · 2023Review
- A Ciliary Branched Actin Network Drives Photoreceptor Disc Morphogenesis.Advances in experimental medicine and biology · 2023Article
- LOF variants identifying candidate genes of laterality defects patients with congenital heart disease.PLoS genetics · 2022Article
- PCARE requires coiled coil, RP62 kinase-binding and EVH1 domain-binding motifs for ciliary expansion.Human molecular genetics · 2022Article
- Genetic dissection of non-syndromic retinitis pigmentosa.Indian journal of ophthalmology · 2022Review
- Zebrafish models of inherited retinal dystrophies.Journal of translational genetics and genomics · 2022Article
- Article
- Zebrafish Models of Photoreceptor Dysfunction and Degeneration.Biomolecules · 2021Review
- Updating the Genetic Landscape of Inherited Retinal Dystrophies.Frontiers in cell and developmental biology · 2021Article
- Photoreceptor Discs: Built Like Ectosomes.Trends in cell biology · 2020Review
- PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Primary Cilia, Ciliogenesis and the Actin Cytoskeleton: A Little Less Resorption, A Little More Actin Please.Frontiers in cell and developmental biology · 2020Review
- Structural bioinformatics predicts that the Retinitis Pigmentosa-28 protein of unknown function FAM161A is a homologue of the microtubule nucleation factor Tpx2.F1000Research · 2020Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
Retinitis pigmentosa is a genetically heterogeneous group of inherited ocular disorders characterized by progressive photoreceptor cell loss, night blindness, constriction of the visual field, and progressive visual disability. Homozygosity mapping and gene expression studies identified a 2 exon gene, C2ORF71. The encoded protein has no homologs and is highly expressed in the eye, where it is specifically expressed in photoreceptor cells. Two mutations were found in C2ORF71 in human RP patients: A nonsense mutation (p.W253X) in the first exon is likely to be a null allele; the second, a missense mutation (p.I201F) within a highly conserved region of the protein, leads to proteosomal degradation. Bioinformatic and functional studies identified and validated sites of lipid modification within the first three amino acids of the C2ORF71 protein. Using morpholino oligonucleotides to knockdown c2orf71 expression in zebrafish results in visual defects, confirming that C2ORF71 plays an important role in the development of normal vision. Finally, localization of C2ORF71 to primary cilia in cultured cells suggests that the protein is likely to localize to the connecting cilium or outer segment of photoreceptor cells.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.