ArticleGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie2017
CTG18.1 repeat expansion may reduce TCF4 gene expression in corneal endothelial cells of German patients with Fuchs' dystrophy.
Article in Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Systematic review of SLC4A11, ZEB1, LOXHD1, and AGBL1 variants in the development of Fuchs' endothelial corneal dystrophy.Frontiers in medicine · 2023Pooled it
- Review
- Repeat Expansion and Somatic Instability in TCF4 in Patients With Fuchs Endothelial Corneal Dystrophy Identified by Small Pool PCR.Investigative ophthalmology & visual science · 2025Article
- Generation of a Mouse Model of Fuchs Endothelial Corneal Dystrophy by Knock-in of CTG Trinucleotide Repeat Expansion in the TCF4 Gene.Investigative ophthalmology & visual science · 2025Article
- Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.Human genetics · 2025Article
- Characterisation of the role played by ELMO1, GPR141 and the intergenic polymorphism rs918980 in Fuchs' dystrophy in the Indian population.FEBS open bio · 2025Article
- Heterozygous Tcf4 Deficiency Mitigates Fuchs Endothelial Corneal Dystrophy Progression in a Mouse Model.Investigative ophthalmology & visual science · 2025Article
- The TCF4 Gene Regulates Apoptosis of Corneal Endothelial Cells in Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2025Article
- New perspectives on DNA methylation modifications in ocular diseases.International journal of ophthalmology · 2025Review
- Transcriptomic analysis implicates the involvement of RBM20 in Fuchs' endothelial corneal dystrophy with TCF4 repeat expansion.PloS one · 2025Article
- Dysregulation of the TCF4 Isoform in Corneal Endothelial Cells of Patients With Fuchs Endothelial Corneal Dystrophy.Investigative ophthalmology & visual science · 2024Article
- CTG18.1 expansion in transcription factor 4 (TCF4) in corneal graft failure: preliminary study.Cell and tissue banking · 2024Article
- Transcription factor 4 promotes increased corneal endothelial cellular migration by altering microtubules in Fuchs endothelial corneal dystrophy.Scientific reports · 2024Article
- RNA-Seq-based transcriptome analysis of corneal endothelial cells derived from patients with Fuchs endothelial corneal dystrophy.Scientific reports · 2023Article
- DNA methylation changes and increased mRNA expression of coagulation proteins, factor V and thrombomodulin in Fuchs endothelial corneal dystrophy.Cellular and molecular life sciences : CMLS · 2023Article
- Update on the genetics of corneal endothelial dystrophies.Indian journal of ophthalmology · 2022Review
- Lower Fractions ofGenes · 2021Article
- Toxicity of amantadine hydrochloride on cultured bovine cornea endothelial cells.Scientific reports · 2021Article
- Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy.Eye and vision (London, England) · 2021Review
- TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.Progress in retinal and eye research · 2021Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIt was the aim of this investigation to elucidate the functional effects of CTG18.1 trinucleotide repeat expansion and the polymorphism rs613872 in the transcription factor 4 (TCF4) in corneas of patients affected by Fuchs' endothelial corneal dystrophy (FECD).
methodsSixty-one unrelated German patients with FECD and 113 unaffected controls were investigated and genotyped for the CTG18.1 locus by triplet primed PCR (TP-PCR) and the rs613872 polymorphism via Sanger sequencing and by employing genomic DNA from peripheral blood leucocytes. DNA and RNA retrieved from human corneal endothelial explants were examined for alterations in the gene expression of TCF4, ZEB1, E-cadherin, N-cadherin, as well as the CTG18.1 locus.
resultsThe CTG18.1 trinucleotide repeat expansion (>50 repeats) was detected in the peripheral blood in 77% of affected FECD patients and 11.5% of the healthy volunteers. Applying the TP-PCR method, the length of CTG18.1 repeat expansions correlates in the blood and corneal cells. We noted that the CTG18.1 trinucleotide repeat expansion was associated with reduced TCF4 and ZEB1 gene expression, especially in the explanted corneal endothelial cells. While E-cadherin gene expression was not detected in any corneal endothelial cells, expression of CDH2 (N-cadherin) was detected in FECD-affected endothelium and in our controls.
conclusionsThe CTG18.1 repeat expansion may reduce gene expression of TCF4 and ZEB1, suggesting that a mechanism triggering a loss of function may contribute to FECD. The correlation of CTG18.1 repeat expansion from blood and the cornea may represent the first step toward investigating the potential relevance of testing the blood of cornea donors to minimize the risk of transplanting grafts potentially affected with FECD.
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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.