ArticleCommunications biology2021
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa.
Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 2 of them syntheses that pooled it.
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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 2 syntheses or guidelines pooled it, 21 citations in OpenAlex.
- Efficacy and safety of mesenchymal stem cell therapies in retinitis pigmentosa: a systematic review and meta-analysis.International ophthalmology · 2025Pooled it
- Specification of variant interpretation guidelines for inherited retinal dystrophy in Japan.Japanese journal of ophthalmology · 2024Guideline
- Causal Relationship Between Blood Proteome and Retinitis Pigmentosa: A Mendelian Randomization Study.Translational vision science & technology · 2026Article
- Clinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.Japanese journal of ophthalmology · 2026Article
- Phenotypic features of EYS-associated retinitis pigmentosa with the c.2528 G > A (p.Gly843Glu) mutation in a Japanese cohort.Scientific reports · 2026Article
- Effects of age on the genetic and clinical characteristics of retinitis pigmentosa.Frontiers in ophthalmology · 2026Article
- Clinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.NPJ genomic medicine · 2025Article
- Deep phenotyping of eyes shut homolog-associated retinopathy based on visual impairment patterns.Frontiers in ophthalmology · 2025Article
- Relationships between causative genes and epiretinal membrane formation in Japanese patients with retinitis pigmentosa.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Observational
- Ocular genetics in the Japanese population.Japanese journal of ophthalmology · 2024Review
- Phototoxicity avoidance is a potential therapeutic approach for retinal dystrophy caused by EYS dysfunction.JCI insight · 2024Article
- Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug.Stem cell research & therapy · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 10 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The genetic basis of Japanese autosomal recessive retinitis pigmentosa (ARRP) remains largely unknown. Herein, we applied a 2-step genome-wide association study (GWAS) in 640 Japanese patients. Meta-GWAS identified three independent peaks at P < 5.0 × 10
Indexed as
Identifiers
What OpenQuestion holds
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.