ArticleCommunications biology2019
Genetic analyses of human fetal retinal pigment epithelium gene expression suggest ocular disease mechanisms.
Article in Communications biology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 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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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
20 citing papers in PubMed, 29 citations in OpenAlex.
- Functional polymorphisms in pigmentation-related genesBiochemistry and biophysics reports · 2026Article
- Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.Experimental eye research · 2025Review
- Metabolic Phenotyping of Healthy and Diseased Human RPE Cells.Investigative ophthalmology & visual science · 2024Article
- After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report.Molecular genetics & genomic medicine · 2024Article
- Integrating genetic regulation and single-cell expression with GWAS prioritizes causal genes and cell types for glaucoma.Nature communications · 2024Article
- A multilayered approach to the analysis of genetic data from individuals with suspected albinism.Journal of medical genetics · 2023Article
- Membrane transporters in cell physiology, cancer metabolism and drug response.Disease models & mechanisms · 2023Review
- Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B.American journal of human genetics · 2023Article
- Transcriptomic Changes Predict Metabolic Alterations in LC3 Associated Phagocytosis in Aged Mice.International journal of molecular sciences · 2023Article
- The Role of Gene Expression Regulation on Genetic Risk of Age-Related Macular Degeneration.Advances in experimental medicine and biology · 2023Review
- Boolean implication analysis of single-cell data predicts retinal cell type markers.BMC bioinformatics · 2022Article
- Oxidation of DJ-1 Cysteines in Retinal Pigment Epithelium Function.International journal of molecular sciences · 2022Article
- The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.Nature communications · 2022Article
- Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits.American journal of human genetics · 2022Article
- Proline metabolism and transport in retinal health and disease.Amino acids · 2021Review
- Loss of Ciliary GeneFrontiers in cell and developmental biology · 2021Article
- Retinoids in the visual cycle: role of the retinal G protein-coupled receptor.Journal of lipid research · 2021Review
- Inherited Eye Diseases with Retinal Manifestations through the Eyes of Homeobox Genes.International journal of molecular sciences · 2020Review
- The cell biology of the retinal pigment epithelium.Progress in retinal and eye research · 2020Review
- Identifying causal variants and genes using functional genomics in specialized cell types and contexts.Human genetics · 2020Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
The retinal pigment epithelium (RPE) serves vital roles in ocular development and retinal homeostasis but has limited representation in large-scale functional genomics datasets. Understanding how common human genetic variants affect RPE gene expression could elucidate the sources of phenotypic variability in selected monogenic ocular diseases and pinpoint causal genes at genome-wide association study (GWAS) loci. We interrogated the genetics of gene expression of cultured human fetal RPE (fRPE) cells under two metabolic conditions and discovered hundreds of shared or condition-specific expression or splice quantitative trait loci (e/sQTLs). Co-localizations of fRPE e/sQTLs with age-related macular degeneration (AMD) and myopia GWAS data suggest new candidate genes, and mechanisms by which a common
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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.