ArticleFrontiers in immunology2023
Sequence variants contributing to dysregulated inflammatory responses across keratoconic cone surface in adolescent patients with keratoconus.
Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.
- Association Between Keratoconus and Inflammatory Bowel Disease: A Systematic Review and Meta-Analysis.Cornea · 2026Pooled it
- A SNP altering the MUC5AC mucin structure is increased in idiopathic pulmonary fibrosis together with the MUC5B SNP.Respiratory research · 2026Article
- "Eye-Conic" Spatial Transcriptomics Reveals the Layer-Specific Molecular Alterations in Corneas of Patients With Keratoconus.Investigative ophthalmology & visual science · 2026Article
- Common and Distinct Features in Serum Proteomic Profiles in Keratoconus, Post-Laser Vision Correction Ectasia, and Pellucid Marginal Degeneration.Investigative ophthalmology & visual science · 2026Article
- Inter-Eye Molecular Discrepancies in the Corneal Epithelium Point to TFRC in the Keratoconus Severity Signature and Mechanism of Cone Formation.Investigative ophthalmology & visual science · 2025Article
- Structure of the MUC5AC VWD3 assembly responsible for the formation of net-like mucin polymers.EMBO reports · 2025Article
- Shared molecular profiles of post-laser vision correction ectasia and keratoconus with key differences inFrontiers in molecular biosciences · 2025Article
- Allergic disease and keratoconus: A two-sample univariable and multivariable Mendelian randomization study.The World Allergy Organization journal · 2024Article
- Differentially expressed microRNAs targeting genes in key pathways in keratoconus.Frontiers in genetics · 2024Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Keratoconus (KTCN) is the most common corneal ectasia resulting in a conical shape of the cornea. Here, genomic variation in the corneal epithelium (CE) across the keratoconic cone surface in patients with KTCN and its relevance in the functioning of the immune system were assessed. Methods: Samples from four unrelated adolescent patients with KTCN and two control individuals were obtained during the CXL and PRK procedures, respectively. Three Results: First, pathway enrichment analysis of genes with identified coding variants pointed to "Antigen presentation" and "Interferon alpha/beta signaling" as the most overrepresented pathways, indicating the involvement of inflammatory responses in KTCN. Both coding and non-coding sequence variants were found in genes (or in their close proximity) linked to the previously revealed KTCN-specific cellular components, namely, "Actin cytoskeleton", "Extracellular matrix", "Collagen-containing extracellular matrix", "Focal adhesion", "Hippo signaling pathway", and "Wnt signaling" pathways. No genomic heterogeneity across the corneal surface was found comparing the assessed Conclusion: The identified genomic features indicate the involvement of innate and adaptive immune system responses in KTCN pathogenesis.
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