ArticleHuman mutation2007
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Article in Human mutation, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers, 1 of them a synthesis that pooled it.
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Who cites it
41 citing papers in PubMed, 1 synthesis or guideline pooled it, 75 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
- Epithelial-to-mesenchymal transition transcription factors: New strategies for mesenchymal tissue regeneration.Cytokine & growth factor reviews · 2025Review
- From Genes to Disease: ReassessingInternational journal of molecular sciences · 2025Article
- FBXO11 Mediates Ubiquitination of ZEB1 and Modulates Epithelial-to-Mesenchymal Transition in Lung Cancer Cells.Cancers · 2024Article
- Cell derived matrices from bovine corneal endothelial cells as a model to study cellular dysfunction.Experimental eye research · 2023Article
- Update on the genetics of corneal endothelial dystrophies.Indian journal of ophthalmology · 2022Review
- Potential underlying genetic associations between keratoconus and diabetes mellitus.Advances in ophthalmology practice and research · 2021Article
- Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-FunctionGenes · 2021Article
- CUGC for posterior polymorphous corneal dystrophy (PPCD).European journal of human genetics : EJHG · 2020Article
- REVIEW: Current understanding of the pathogenesis of Fuchs' endothelial corneal dystrophy.Molecular vision · 2019Review
- Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.American journal of human genetics · 2018Article
- Transcriptomic Profiling of Posterior Polymorphous Corneal Dystrophy.Investigative ophthalmology & visual science · 2017Article
- Active transforming growth factor-β2 in the aqueous humor of posterior polymorphous corneal dystrophy patients.PloS one · 2017Article
- Elucidating the molecular basis of PPCD: Effects of decreased ZEB1 expression on corneal endothelial cell function.Molecular vision · 2017Article
- Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.PloS one · 2017Article
- Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3.European journal of human genetics : EJHG · 2016Article
- Characteristics of corneal dystrophies: a review from clinical, histological and genetic perspectives.International journal of ophthalmology · 2016Review
- Article
- Transcriptome analysis of the human corneal endothelium.Investigative ophthalmology & visual science · 2014Article
- Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.Investigative ophthalmology & visual science · 2014Article
Corrections and comments
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Authors and funding
15 authors at 6 institutions in 3 countries.
Funding
Abstract
We describe the search for mutations in six unrelated Czech and four unrelated British families with posterior polymorphous corneal dystrophy (PPCD); a relatively rare eye disorder. Coding exons and intron/exon boundaries of all three genes (VSX1, COL8A2, and ZEB1/TCF8) previously reported to be implicated in the pathogenesis of this disorder were screened by DNA sequencing. Four novel pathogenic mutations were identified in four families; two deletions, one nonsense, and one duplication within exon 7 in the ZEB1 gene located at 10p11.2. We also genotyped the Czech patients to test for a founder haplotype and lack of disease segregation with the 20p11.2 locus we previously described. Although a systematic clinical examination was not performed, our investigation does not support an association between ZEB1 changes and self reported non-ocular anomalies. In the remaining six families no disease causing mutations were identified thereby indicating that as yet unidentified gene(s) are likely to be responsible for PPCD.
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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.