ArticleHuman genetics2023
PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.
Article in Human genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 8 citations in OpenAlex.
- Population-Based Multi-Omics and Cohort Study Identifying Predictive Biomarkers and Therapeutic Targets for Psoriatic Disease.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- The cell-surface serine protease prostasin is lost during cervical squamous cell carcinogenesis.Human cell · 2025Article
- GPI-anchored serine proteases: essential roles in development, homeostasis, and disease.Biological chemistry · 2025Review
- Integrated Single-Cell RNA Sequencing and Proteome-Wide Mendelian Randomization Identifies Therapeutic Targets for Psoriasis and Associated Complications.Psoriasis (Auckland, N.Z.) · 2025Article
- The Role of Serine Protease 8 in Mediating Gefitinib Resistance in Non-small Cell Lung Cancer.Anti-cancer agents in medicinal chemistry · 2024Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families with congenital ichthyosis. Combined positional mapping and exome sequencing of the two families revealed novel homozygous likely deleterious variants in PRSS8 (encoding prostasin) within a linkage locus on chromosome 16. One variant involved a canonical splice site and was associated with reduced abundance of the normal transcript, while the other was a missense variant that altered a highly conserved residue. The phenotype of Prss8 knockout mouse bears a striking resemblance to the one we describe in human patients, including the skin histopathology. Our data suggest a novel PRSS8-related ichthyosis disorder.
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