ArticleEuropean journal of human genetics : EJHG2017
Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas.
Article in European journal of human genetics : EJHG, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 4 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
77 citing papers in PubMed, 4 syntheses or guidelines pooled it, 108 citations in OpenAlex.
- The candidate proteins associated with keratoconus: A meta-analysis and bioinformatic analysis.PloS one · 2024Pooled it
- Meta-Analysis of Keratoconus Transcriptomic Data Revealed Altered RNA Editing Levels Impacting Keratin Genomic Clusters.Investigative ophthalmology & visual science · 2023Pooled it
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error.Communications biology · 2020Pooled it
- Article
- An Integrative Bioinformatics Framework Nominates Candidate Limbal Stem-Cell Exosome Cargo for Keratoconus by Coupling Corneal Transcriptomics, Disease-Gene Evidence and Extracellular-Vesicle Repositories.Bioengineering (Basel, Switzerland) · 2026Article
- Machine learning-based transcriptomic analysis of differentially expressed genes in the epithelium and stroma of keratoconus.Human genomics · 2026Article
- "Eye-Conic" Spatial Transcriptomics Reveals the Layer-Specific Molecular Alterations in Corneas of Patients With Keratoconus.Investigative ophthalmology & visual science · 2026Article
- Tear MicroRNA-Based Molecular Signature for Keratoconus Stratification: A Cross-Cohort Integration Study.Bioinformatics and biology insights · 2026Article
- Proteomic Analysis Provides Insights Into PPIP5K2 Function and Its Impact on Corneal Energy Metabolism.Investigative ophthalmology & visual science · 2025Article
- Transcriptomic profiling reveals neural-immune-stromal dysregulation and risk-associated gene signatures in advanced keratoconus.Scientific reports · 2025Article
- 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
- Genetics of Keratoconus: A Comprehensive Review.Genes · 2025Review
- Investigating prolactin-induced protein and its role in modulating the metabolic state of the keratoconus microenvironment.Experimental eye research · 2025Review
- Machine Learning-Driven Transcriptome Analysis of Keratoconus for Predictive Biomarker Identification.Biomedicines · 2025Article
- Omics in Keratoconus: From Molecular to Clinical Practice.Journal of clinical medicine · 2025Review
- Constructing a disease-specific ceRNA coregulatory network for keratoconus diagnosis and landscape of the immune environment.International ophthalmology · 2025Article
- Proteomics Reveals Mechanisms of Delayed Keratoconus Progression: A Study of Corneas Following Two Light-Activated Crosslinking Treatments.Investigative ophthalmology & visual science · 2025Article
- Mechanical Strain of Corneal Epithelium Influences the Expression of Genes Implicated in Keratoconus.Investigative ophthalmology & visual science · 2025Article
- Shared molecular profiles of post-laser vision correction ectasia and keratoconus with key differences inFrontiers in molecular biosciences · 2025Article
17 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To understand better the factors contributing to keratoconus (KTCN), we performed comprehensive transcriptome profiling of human KTCN corneas for the first time using an RNA-Seq approach. Twenty-five KTCN and 25 non-KTCN corneas were enrolled in this study. After RNA extraction, total RNA libraries were prepared and sequenced. The discovery RNA-Seq analysis (in eight KTCN and eight non-KTCN corneas) was conducted first, after which the replication RNA-Seq experiment was performed on a second set of samples (17 KTCN and 17 non-KTCN corneas). Over 82% of the genes and almost 75% of the transcripts detected as differentially expressed in KTCN and non-KTCN corneas were confirmed in the replication study using another set of samples. We used these differentially expressed genes to generate a network of KTCN-deregulated genes. We found an extensive disruption of collagen synthesis and maturation pathways, as well as downregulation of the core elements of the TGF-β, Hippo, and Wnt signaling pathways influencing corneal organization. This first comprehensive transcriptome profiling of human KTCN corneas points further to a complex etiology of KTCN.
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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.