ArticleScientific reports2019
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus.
Article in Scientific reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis 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.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Systematically Displaying the Pathogenesis of KeratoconusFrontiers in medicine · 2021Pooled it
- Three phosphatase families form a community: The phosphohydrolases that act upon inositol pyrophosphates.FEBS letters · 2026Review
- Inositol pyrophosphate kinases in health and disease.FEBS letters · 2026Review
- Proteome-wide quantification of inositol pyrophosphate-protein interactions.Nature communications · 2026Article
- Analysis of Keratoconus-Related Phenotypes in Two Pcsk1 Mouse Models.Translational vision science & technology · 2026Article
- Proteomic Analysis Provides Insights Into PPIP5K2 Function and Its Impact on Corneal Energy Metabolism.Investigative ophthalmology & visual science · 2025Article
- IMPC impact on preclinical mouse models.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- (PP)-InsP Affinity Probes for Target Characterization by Immunoblotting and Mass Spectrometry.Methods in molecular biology (Clifton, N.J.) · 2025Article
- Identification of Keratoconus-Related Phenotypes in Three Ppip5k2 Mouse Models.Investigative ophthalmology & visual science · 2024Article
- Functions, Mechanisms, and therapeutic applications of the inositol pyrophosphates 5PP-InsPJournal of cardiovascular translational research · 2024Review
- PPIP5K2 Facilitates Proliferation and Metastasis of Non-Small Lung Cancer (NSCLC) through AKT Signaling Pathway.Cancers · 2024Article
- Systemic and Ocular Associations of Keratoconus.Expert review of ophthalmology · 2024Article
- Protein pyrophosphorylation by inositol phosphates: a novel post-translational modification in plants?Frontiers in plant science · 2024Review
- Animal Models for the Study of Keratoconus.Cells · 2023Review
- Exosomes and their miRNA/protein profile in keratoconus-derived corneal stromal cells.Experimental eye research · 2023Article
- Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.Genes · 2023Article
- Role of Fibroblast Growth Factor Receptor 2 (FGFR2) in Corneal Stromal Thinning.Investigative ophthalmology & visual science · 2023Article
- Ocular condition prognosis in Keratoconus patients after corneal ring implantation using artificial neural networks.Heliyon · 2023Article
- One Scaffold, Two Conformations: The Ring-Flip of the Messenger InsPBiomolecules · 2023Article
- Capillary electrophoresis mass spectrometry identifies new isomers of inositol pyrophosphates in mammalian tissues.Chemical science · 2023Article
Corrections and comments
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Authors and funding
25 authors at 9 institutions in 4 countries.
Funding
Abstract
Keratoconus (KC) is the most common corneal ectatic disorder affecting >300,000 people in the US. KC normally has its onset in adolescence, progressively worsening through the third to fourth decades of life. KC patients report significant impaired vision-related quality of life. Genetic factors play an important role in KC pathogenesis. To identify novel genes in familial KC patients, we performed whole exome and genome sequencing in a four-generation family. We identified potential variants in the PPIP5K2 and PCSK1 genes. Using in vitro cellular model and in vivo gene-trap mouse model, we found critical evidence to support the role of PPIP5K2 in normal corneal function and KC pathogenesis. The gene-trap mouse showed irregular corneal surfaces and pathological corneal thinning resembling KC. For the first time, we have integrated corneal tomography and pachymetry mapping into characterization of mouse corneal phenotypes which could be widely implemented in basic and translational research for KC diagnosis and therapy in the future.
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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.