ArticleDisease models & mechanisms2021
A mouse model of brittle cornea syndrome caused by mutation in Zfp469.
Article in Disease models & mechanisms, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 19 citations in OpenAlex.
- ZNF469 drives TGF-β1/SMAD3-mediated extracellular matrix regulation in pulmonary fibrosis.Biomolecules & biomedicine · 2026Article
- Transcriptome remodeling of mouse hearts during postnatal cardiac maturation and under proteotoxic stress.Molecular biology reports · 2026Article
- Article
- ZNF469 promotes extracellular matrix production in normal and keloid dermal fibroblasts.Molecular medicine reports · 2025Article
- Identification of pathogenic variants in six Chinese families with keratoconus of autosomal dominant inheritance: pathogenicity analysis and variable phenotype.International ophthalmology · 2025Article
- On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469.FEBS open bio · 2025Article
- Article
- A Possible Phenotype-to-Genotype Association of Novel Single-Nucleotide Variants in the Coding Exons of theInternational journal of molecular sciences · 2024Article
- Brittle cornea syndrome: A novel mutation.Heliyon · 2024Article
- An Eye into the Aorta: The Role of Extracellular Matrix Regulatory GenesInternational journal of molecular sciences · 2024Review
- The transcription factor ZNF469 regulates collagen production in liver fibrosis.bioRxiv : the preprint server for biology · 2024Article
- Variants in theHeliyon · 2024Article
- Squishy matters - Corneal mechanobiology in health and disease.Progress in retinal and eye research · 2024Review
- Molecular mechanism of hypoxia and alpha-ketoglutaric acid on collagen expression in scleral fibroblasts.International journal of ophthalmology · 2024Article
- Animal Models for the Study of Keratoconus.Cells · 2023Review
- Znf469 Plays a Critical Role in Regulating Synthesis of ECM: A Zebrafish Model of Brittle Cornea Syndrome.Investigative ophthalmology & visual science · 2023Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Brittle cornea syndrome (BCS) is a rare recessive condition characterised by extreme thinning of the cornea and sclera. BCS results from loss-of-function mutations in the poorly understood genes ZNF469 or PRDM5. In order to determine the function of ZNF469 and to elucidate pathogenic mechanisms, we used genome editing to recapitulate a human ZNF469 BCS mutation in the orthologous mouse gene Zfp469. Ophthalmic phenotyping showed that homozygous Zfp469 mutation causes significant central and peripheral corneal thinning arising from reduced stromal thickness. Expression of key components of the corneal stroma in primary keratocytes from Zfp469BCS/BCS mice is affected, including decreased Col1a1 and Col1a2 expression. This alters the collagen type I/collagen type V ratio and results in collagen fibrils with smaller diameter and increased fibril density in homozygous mutant corneas, correlating with decreased biomechanical strength in the cornea. Cell-derived matrices generated by primary keratocytes show reduced deposition of collagen type I, offering an in vitro model for stromal dysfunction. Work remains to determine whether modulating ZNF469 activity will have therapeutic benefit in BCS or in conditions such as keratoconus in which the cornea thins progressively. This article has an associated First Person interview with the first author of the paper.
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