ArticleNature genetics2008
EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
Article in Nature genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 117 papers.
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Who cites it
117 citing papers in PubMed.
- Correlation of EYS polymorphisms with lumbar disc herniation risk among Han Chinese population.Molecular genetics & genomic medicine · 2019Trial
- Overcoming size barriers in retinal gene therapy via lipid nanoparticle-mediated delivery of full-length eys DNA.Drug delivery and translational research · 2026Article
- A Tripartite AAV System with Engineered Lox Sites Enables Efficient Delivery of theHuman gene therapy · 2026Article
- Optical control of Cas9 activity through visible-light cleavable crRNAs.RSC chemical biology · 2026Article
- Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Scientific reports · 2026Article
- The extracellular matrix genebioRxiv : the preprint server for biology · 2026Article
- The mutational and clinical spectrum ofFrontiers in genetics · 2026Article
- Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.NPJ genomic medicine · 2025Article
- Article
- Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Unique ultrastructural organization of human rod photoreceptors.Communications biology · 2025Article
- Progressive mitochondrial dysfunction impairs visual signal transduction and induces retinal degeneration inFrontiers in insect science · 2025Article
- Systematic review:Frontiers in medicine · 2025Review
- Deep phenotyping of eyes shut homolog-associated retinopathy based on visual impairment patterns.Frontiers in ophthalmology · 2025Article
- Megabase Deletion of the Human EYS Locus Using CRISPR/Cas9.Advances in experimental medicine and biology · 2025Article
- Article
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Dystroglycan-HSPG interactions provide synaptic plasticity and specificity.Glycobiology · 2024Review
57 more citing papers are in PubMed but not listed here.
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17 authors.
Funding
Abstract
Using a positional cloning approach supported by comparative genomics, we have identified a previously unreported gene, EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa. Spanning over 2 Mb, this is the largest eye-specific gene identified so far. EYS is independently disrupted in four other mammalian lineages, including that of rodents, but is well conserved from Drosophila to man and is likely to have a role in the modeling of retinal architecture.
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