Recombinant Human Protein eyes shut homolog (EYS), partial

1. A novel single base pair insertion mutation has been found in the EYS gene in a six generations family with retinitis pigmentosa. PMID: 28419563
2. Taken together, with the targeted NGS approach, we reveal novel EYS mutations and prove the efficiency of targeted NGS in the genetic diagnoses of retinitis pigmentosa. PMID: 27375351
3. Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS. PMID: 27658286
4. The results obtained in this study lead us to speculate that, in photoreceptor cells, EYS could be a protein involved in maintaining the stability of the ciliary axoneme in both rods and cones. The variability of its isoform structure suggests that other roles are also possible and yet to be established PMID: 27846257
5. our study expands the genotypic spectrums for EYS mutations, and may provide novel insights into the relevant pathogenesis for RP. We also demonstrate targeted next-generation sequencing approach as a valuable tool for genetic diagnosis. PMID: 25753737
6. New variants were found to be located on the USH2A, RPGR, EYS, and RHO genes PMID: 25366773
7. Advanced retinal degenerative changes with near-total absence of rods and preservation of some perifoveal cones are observed in arRP donor retinas with EYS mutations. PMID: 25491159
8. We confirmed with our previous findings that PTP4A1-PHF3-EYS variants were significantly associated with alcohol dependence. PMID: 24961364
9. It appears that patients share a relatively uniform phenotype with near-normal central visual function up to their twenties. The patients homozygous for the c.4957_4958insA mutation showed a uniform course of visual acuity changes. PMID: 23421333
10. Our results demonstrated that EYS mutations can be the cause of not only autosomal recessive retinitis pigmentosa but also autoisomal recessive cone-rod dystrophy. PMID: 24652164
11. PTP4A1-PHF3-EYS variants were associated with alcohol dependence. PMID: 23324950
12. This study was conducted to determine the spectrum and frequency of EYS mutations in 100 Japanese autosomal recessive retinitis pigmentosa patients. PMID: 22363543
13. One-third of Japanese patients with nonsyndromic autosomal recessive retinitis pigmentosa carried probable pathogenic mutations in the EYS gene, including two founder mutations PMID: 22302105
14. The results of this GWAS, replication, and fine mapping study provide the first reported evidence that genetic variants mutation within the EYS gene, may be associated with severe statin myopathy. PMID: 21826682
15. Results suggest that midsized genomic rearrangements in EYS gene would be a common event in the appearance of retinitis pigmentosa phenotype PMID: 21519034
16. The mutations p.D2767Y and p.D3028Y described in this study affect highly conserved residues at homologous positions in laminin A G-like domains and support the notion that missense mutations in EYS can cause autosomal recessive retinitis pigmentosa. PMID: 21179430
17. Report the identification of 73 sequence variations in EYS, of which 28 are novel. Of these, 42.9% (12/28) are very likely pathogenic, 17.9% (5/28)are possibly pathogenic, whereas 39.3% (11/28) are SNPs. PMID: 21069908
18. EYS is currently the most commonly mutated autosomal recessive retinitis pigmentosa gene in the Israeli population, mainly due to founder mutations PMID: 20375346
19. Mutations in EYS account for approximately 5% of autosomal recessive RP (retinitis pigmetosa) patients. PMID: 20537394
20. a single nucleotide substitution of G to T at nucleotide 5506 was identified in a Chinese arRP family, causing a substitution of a glutamic acid residue at codon 1,836 by a stop codon TAA (p.E1836X), resulting in a truncated protein with 1,835 amino acids PMID: 20696082
21. EYS is a major causative gene for recessive retinitis pigmentosa and emphasize the role of different types of mutations in disrupting the function of EYS. PMID: 20237254
22. Data identified novel mutations in EYS in a total of 29 patients: Fifteen of the mutations were predicted to create premature stop codons and two represent exonic deletions. Twenty missense, silent or splice-site mutations were detected. PMID: 20333770
23. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) PMID: 20379614
24. Observational study of gene-disease association. (HuGE Navigator) PMID: 20333770
25. To study if copy number variation exists within RP25, comparative genomic hybridization analysis on a consanguineous family revealed a clone, chr6tp-19C7, spanning 100-Kb was deleted in all affected members of the family. PMID: 18510646
26. In order to validate the original linkage of RP25, study undertook a total genome scan using the 10K GeneChip mapping array on 3 of the previously linked families; data obtained supported the initial findings of linkage. PMID: 18510647
27. EYS, at the RP25 locus on chromosome 6q12 commonly mutated in autosomal recessive retinitis pigmentosa, is identified. PMID: 18836446
28. EYS is identified as a human ortholog of Drosopbhila eys, which is mutated in patients with retinitis pigmentosa. PMID: 18976725

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HGNC: 21555

OMIM: 602772

KEGG: hsa:346007

STRING: 9606.ENSP00000424243

UniGene: Hs.25067