ArticleInvestigative ophthalmology & visual science2013
Endothelial cell whole genome expression analysis in a mouse model of early-onset Fuchs' endothelial corneal dystrophy.
Article in Investigative ophthalmology & visual science, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 19 citations in OpenAlex.
- Early Transcriptomic and Pathologic Changes of Col8a2 Mutant Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2026Article
- Enabling In Vivo Longitudinal Evaluation of Descemet's Membrane Thickness in Wild-type and FECD Mice Using Self-Referenced Optical Coherence Microscopy.Investigative ophthalmology & visual science · 2025Article
- Characterization of a Novel Mouse Model for Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2024Article
- Pathogenic Role of Endoplasmic Reticulum Stress in Diabetic Corneal Endothelial Dysfunction.Investigative ophthalmology & visual science · 2022Article
- UV Protection in the Cornea: Failure and Rescue.Biology · 2022Review
- Autophagy in corneal health and disease: A concise review.The ocular surface · 2019Review
- GRIK5 Genetically Regulated Expression Associated with Eye and Vascular Phenomes: Discovery through Iteration among Biobanks, Electronic Health Records, and Zebrafish.American journal of human genetics · 2019Article
- The Molecular Basis of Fuchs' Endothelial Corneal Dystrophy.Molecular diagnosis & therapy · 2019Review
- Extracellular Matrix and Integrin Expression Profiles in Fuchs Endothelial Corneal Dystrophy Cells and Tissue Model.Tissue engineering. Part A · 2018Article
- Wound-Induced Polyploidization: Regulation by Hippo and JNK Signaling and Conservation in Mammals.PloS one · 2016Article
- Corneal nerve alterations in different stages of Fuchs' endothelial corneal dystrophy: an in vivo confocal microscopy study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2014Article
- Autophagy in the eye: implications for ocular cell health.Experimental eye research · 2014Review
- Endothelial cell microRNA expression in human late-onset Fuchs' dystrophy.Investigative ophthalmology & visual science · 2014Article
- Loss of ion transporters and increased unfolded protein response in Fuchs' dystrophy.Molecular vision · 2014Article
- Developments in Ocular Genetics: 2013 Annual Review.Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Article
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 3 countries.
Funding
Abstract
purposeTo investigate the endothelial gene expression profile in a Col8a2 Q455K mutant knock-in mouse model of early-onset Fuchs' endothelial corneal dystrophy (FECD) and identify potential targets that can be correlated to human late-onset FECD.
methodsDiseased or normal endothelial phenotypes were verified in 12-month-old homozygous Col8a2(Q455K/Q455K) mutant and wild-type mice by clinical confocal microscopy. An endothelial whole genome expression profile was generated by microarray-based analysis. Result validation was performed by real-time PCR. Endothelial COX2 and JUN expression was further studied in human late-onset FECD compared to normal samples.
resultsMicroarray analysis demonstrated endothelial expression of 24,538 genes (162 up-regulated and 172 down-regulated targets) and identified affected gene ontology terms including Response to Stress, Protein Metabolic Process, Protein Folding, Regulation of Apoptosis, and Transporter Activity. Real-time PCR assessment confirmed increased Cox2 (P = 0.001) and Jun mRNA (P = 0.03) levels in Col8a2(Q455K/Q455K) mutant compared to wild-type mice. In human FECD samples, real-time PCR demonstrated a statistically significant increase in COX2 mRNA (P < 0.0001) and JUN mRNA (P = 0.002) and tissue microarray analysis showed increased endothelial COX2 (P = 0.02) and JUN protein (P = 0.04).
conclusionsThe present study provides the first endothelial whole genome expression analysis in an animal model of FECD and represents a useful resource for future studies of the disease. In particular endothelial COX2 up-regulation warrants further investigation of its role in FECD.
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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.