ArticleCell genomics2023
A systems biology approach uncovers novel disease mechanisms in age-related macular degeneration.
Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed.
- Genetic evidence and cross-species functional characterization implicateProceedings of the National Academy of Sciences of the United States of America · 2026Article
- Article
- Revisiting retinal and macular degeneration in the genomics era.Nature reviews. Genetics · 2026Review
- An Integrated Multi-omics Single Cell Atlas of the Human RPE and Choroid.bioRxiv : the preprint server for biology · 2026Article
- Paired DNA and RNA sequencing uncovers common and rare variation regulating human retinal gene expression.Nature communications · 2026Article
- FRZB-induced anti-angiogenic effect via Caveolin-1-mediated TGFβ signalling.Nature communications · 2026Article
- Müller Cell Changes and Subretinal Membrane Formation in an Eye With Multifocal Geographic Atrophy.Investigative ophthalmology & visual science · 2026Article
- Single-cell multiome and enhancer connectome of human retinal pigment epithelium and choroid nominate causal variants in macular degeneration.Cell reports · 2026Article
- Molecular underpinnings of induced degenerative heterogeneity in the retinal pigment epithelium.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Molecular mechanisms and intervention strategies for age-related macular degeneration.International journal of ophthalmology · 2026Review
- Decoding cell-class specific roles of non-coding variants in human retina.Scientific reports · 2025Article
- MetaLigand provides a prior-knowledge-guided framework for predicting non-peptide ligand mediated cell-cell communication.Cell reports methods · 2025Article
- Dysregulated DNA Methylation inInternational journal of molecular sciences · 2025Article
- Independent Mutations in theInternational journal of molecular sciences · 2025Article
- Gene Therapy for Wet Age-Related Macular Degeneration.Bioengineering (Basel, Switzerland) · 2025Review
- Characterization of hydrolase activity in ocular tissues of humans and preclinical species.Drug metabolism and disposition: the biological fate of chemicals · 2025Article
- Integrating explainable machine learning and transcriptomics data reveals cell-type specific immune signatures underlying macular degeneration.NPJ genomic medicine · 2025Article
- A morphology and secretome map of pyroptosis.Molecular biology of the cell · 2025Article
- Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.Experimental eye research · 2025Review
- Proteomics approach identifies aqueous humor biomarkers in retinal diseases.Communications medicine · 2025Article
Corrections and comments
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Authors and funding
29 authors.
Funding
Abstract
Age-related macular degeneration (AMD) is a leading cause of blindness, affecting 200 million people worldwide. To identify genes that could be targeted for treatment, we created a molecular atlas at different stages of AMD. Our resource is comprised of RNA sequencing (RNA-seq) and DNA methylation microarrays from bulk macular retinal pigment epithelium (RPE)/choroid of clinically phenotyped normal and AMD donor eyes (n = 85), single-nucleus RNA-seq (164,399 cells), and single-nucleus assay for transposase-accessible chromatin (ATAC)-seq (125,822 cells) from the retina, RPE, and choroid of 6 AMD and 7 control donors. We identified 23 genome-wide significant loci differentially methylated in AMD, over 1,000 differentially expressed genes across different disease stages, and an AMD Müller state distinct from normal or gliosis. Chromatin accessibility peaks in genome-wide association study (GWAS) loci revealed putative causal genes for AMD, including
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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.