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Article

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.

PloS one - 1 Jan 2016

Alfano Giovanna, Kruczek Przemyslaw M, Shah Amna Z, Kramarz Barbara, Jeffery Glen, Zelhof Andrew C, Bhattacharya Shomi S

Abstract excerpt

PURPOSE: Mutations in the EYS gene are a common cause of autosomal recessive retinitis pigmentosa (arRP), yet the role of the EYS protein in humans is presently unclear. The aim of this study was to investigate the isoform structure, expression and potential function of EYS in the mammalian retina in order to better understand its involvement in the pathogenesis of arRP. METHODS: To achieve the objective, we...

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Source

Open in PubMed Open full text

Identifiers

PMID: 27846257
DOI: 10.1371/journal.pone.0166397
PMCID: PMC5112921

Genes

EYS

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

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

EYS Is a Protein Associated with the Ciliary Axoneme in Rods and Cones.PMID 27846257Read ↗

EYS is a major gene for rod-cone dystrophies in France.Semantic proximity Read ↗

Dissecting the role of EYS in retinal degeneration: clinical and molecular aspects and its implications for future therapy.Semantic proximity Read ↗

Autosomal recessive cone-rod dystrophy associated with compound heterozygous mutations in the EYS gene.Semantic proximity Read ↗

Mutations in the EYS gene account for approximately 5% of autosomal recessive retinitis pigmentosa and cause a fairly homogeneous phenotype.Semantic proximity Read ↗

Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophySemantic proximity Read ↗

Extending the Spectrum of EYS-Associated Retinal Disease to Macular DystrophySemantic proximity Read ↗

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.Semantic proximity Read ↗

"Genetic and clinical findings in an ethnically diverse retinitis pigmentosa cohort associated with pathogenic variants in EYS".Semantic proximity Read ↗

EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease ProgressionSemantic proximity Read ↗

Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.Semantic proximity Read ↗

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.Semantic proximity Read ↗

Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Semantic proximity Read ↗

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