ArticleScientific reports2017
DNA Methylomes Reveal Biological Networks Involved in Human Eye Development, Functions and Associated Disorders.
Article in Scientific reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 53 citations in OpenAlex.
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- DNA hypermethylation of PLTP mediated by DNMT3B aggravates vascular dysfunction in diabetic retinopathy via the AKT/GSK3β signaling pathway.Clinical epigenetics · 2025Article
- CD44, ACAN, PLVAP, and HBEGF Emerged as Potential Biomarkers in Diabetic Retinopathy.Diabetes, metabolic syndrome and obesity : targets and therapy · 2025Article
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- Comparative study on genomic and epigenomic profiles of retinoblastoma or tuberous sclerosis complex via nanopore sequencing and a joint screening framework.Cancer gene therapy · 2024Article
- TET2-mediated ECM1 hypomethylation promotes the neovascularization in active proliferative diabetic retinopathy.Clinical epigenetics · 2024Article
- Traversing the epigenetic landscape: DNA methylation from retina to brain in development and disease.Frontiers in cellular neuroscience · 2024Review
- TMEM132D and VIPR2 Polymorphisms as Genetic Risk Loci for Retinal Detachment: A Genome-Wide Association Study and Polygenic Risk Score Analysis.Investigative ophthalmology & visual science · 2023Article
- Diabetic Retinopathy and Cardiovascular Disease: A Literature Review.Diabetes, metabolic syndrome and obesity : targets and therapy · 2023Review
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- DNA methylation in diabetic retinopathy: pathogenetic role and potential therapeutic targets.Cell & bioscience · 2022Review
- Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy.Nature communications · 2022Article
- Decreased Levels of DNA Methylation in the PCDHA Gene Cluster as a Risk Factor for Early-Onset High Myopia in Young Children.Investigative ophthalmology & visual science · 2022Article
- NSUN2-mediated RNA mEpigenetics · 2022Article
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- Genome-wide aberrant methylation in primary metastatic UM and their matched metastases.Scientific reports · 2022Article
- Comprehensive Analysis of the Immune Cell Infiltration Landscape and Immune-Related Methylation in Retinoblastoma.Frontiers in genetics · 2022Article
- Methylation-driven gene DLL3 is a potential prognostic biomarker in ocular melanoma correlating with metastasis.Frontiers in oncology · 2022Article
Corrections and comments
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Authors and funding
27 authors at 11 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This work provides a comprehensive CpG methylation landscape of the different layers of the human eye that unveils the gene networks associated with their biological functions and how these are disrupted in common visual disorders. Herein, we firstly determined the role of CpG methylation in the regulation of ocular tissue-specification and described hypermethylation of retinal transcription factors (i.e., PAX6, RAX, SIX6) in a tissue-dependent manner. Second, we have characterized the DNA methylome of visual disorders linked to internal and external environmental factors. Main conclusions allow certifying that crucial pathways related to Wnt-MAPK signaling pathways or neuroinflammation are epigenetically controlled in the fibrotic disorders involved in retinal detachment, but results also reinforced the contribution of neurovascularization (ETS1, HES5, PRDM16) in diabetic retinopathy. Finally, we had studied the methylome in the most frequent intraocular tumors in adults and children (uveal melanoma and retinoblastoma, respectively). We observed that hypermethylation of tumor suppressor genes is a frequent event in ocular tumors, but also unmethylation is associated with tumorogenesis. Interestingly, unmethylation of the proto-oncogen RAB31 was a predictor of metastasis risk in uveal melanoma. Loss of methylation of the oncogenic mir-17-92 cluster was detected in primary tissues but also in blood from patients.
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