ArticleFASEB journal : official publication of the Federation of American Societies for Experimental Biology2011
Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration.
Article in FASEB journal : official publication of the Federation of American Societies for Experimental Biology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 63 papers.
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Who cites it
63 citing papers in PubMed, 83 citations in OpenAlex.
- FREQUENT SUBCLINICAL MACULAR CHANGES IN COMBINED BRAF/MEK INHIBITION WITH HIGH-DOSE HYDROXYCHLOROQUINE AS TREATMENT FOR ADVANCED METASTATIC BRAF MUTANT MELANOMA: Preliminary Results From a Phase I/II Clinical Treatment Trial.Retina (Philadelphia, Pa.) · 2019Trial
- Screening for differentially expressed genes in retinoblastoma gene chips through the GEO database and validation in clinical settings.International journal of ophthalmology · 2026Article
- Photoreceptor Disease at Ambiguous Transition Zones in Inherited Retinal Degenerations.Translational vision science & technology · 2025Article
- Generation and analysis of a mouse multitissue genome annotation atlas.Genome research · 2024Article
- Generation and analysis of a mouse multi-tissue genome annotation atlas.bioRxiv : the preprint server for biology · 2024Article
- scMAE: a masked autoencoder for single-cell RNA-seq clustering.Bioinformatics (Oxford, England) · 2024Article
- Boolean implication analysis of single-cell data predicts retinal cell type markers.BMC bioinformatics · 2022Article
- High Glucose Impairs Expression and Activation of MerTK in ARPE-19 Cells.International journal of molecular sciences · 2022Article
- Bardet-Biedl syndrome-7 (Ophthalmic genetics · 2021Article
- Interspecies Correlations between Human and MouseJournal of clinical medicine · 2021Article
- 3D-Reconstructed Retinal Pigment Epithelial Cells Provide Insights into the Anatomy of the Outer Retina.International journal of molecular sciences · 2020Article
- Atlas of Human Retinal Pigment Epithelium Organelles Significant for Clinical Imaging.Investigative ophthalmology & visual science · 2020Article
- Retinal Gene Distribution and Functionality Implicated in Inherited Retinal Degenerations Can Reveal Disease-Relevant Pathways for Pharmacologic Intervention.Pharmaceuticals (Basel, Switzerland) · 2019Article
- The small GTPase RAB28 is required for phagocytosis of cone outer segments by the murine retinal pigmented epithelium.The Journal of biological chemistry · 2018Article
- Epigenetic Variability Confounds Transcriptome but Not Proteome Profiling for Coexpression-based Gene Function Prediction.Molecular & cellular proteomics : MCP · 2018Article
- A Combination of G Protein-Coupled Receptor Modulators Protects Photoreceptors from Degeneration.The Journal of pharmacology and experimental therapeutics · 2018Article
- Goldmann-Favre Syndrome: Case Series.Turkish journal of ophthalmology · 2018Article
- Differential epitope masking reveals synapse-specific complexes of TRPM1.Visual neuroscience · 2018Article
- Article
- Retinal Pigment Epithelium Degeneration Associated With Subretinal Drusenoid Deposits in Age-Related Macular Degeneration.American journal of ophthalmology · 2017Article
3 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 2 countries.
Funding
Abstract
Enhanced S-cone syndrome (ESCS), featuring an excess number of S cones, manifests as a progressive retinal degeneration that leads to blindness. Here, through optical imaging, we identified an abnormal interface between photoreceptors and the retinal pigment epithelium (RPE) in 9 patients with ESCS. The neural retina leucine zipper transcription factor-knockout (Nrl(-/-)) mouse model demonstrates many phenotypic features of human ESCS, including unstable S-cone-positive photoreceptors. Using massively parallel RNA sequencing, we identified 6203 differentially expressed transcripts between wild-type (Wt) and Nrl(-/-) mouse retinas, with 6 highly significant differentially expressed genes of the Pax, Notch, and Wnt canonical pathways. Changes were also obvious in expression of 30 genes involved in the visual cycle and 3 key genes in photoreceptor phagocytosis. Novel high-resolution (100 nm) imaging and reconstruction of Nrl(-/-) retinas revealed an abnormal packing of photoreceptors that contributed to buildup of photoreceptor deposits. Furthermore, lack of phagosomes in the RPE layer of Nrl(-/-) retina revealed impairment in phagocytosis. Cultured RPE cells from Wt and Nrl(-/-) mice illustrated that the phagocytotic defect was attributable to the aberrant interface between ESCS photoreceptors and the RPE. Overcoming the retinal phagocytosis defect could arrest the progressive degenerative component of this disease.
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