ArticleAmerican journal of human genetics2007
Autosomal recessive ichthyosis with hypotrichosis caused by a mutation in ST14, encoding type II transmembrane serine protease matriptase.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers.
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75 citing papers in PubMed, 189 citations in OpenAlex.
- A start methionine mutation in matriptase causes the membrane anchor to be skipped and replaced by a cryptic signal peptide.The Journal of biological chemistry · 2026Article
- Proteolytic dysregulation in the skin: insight from rare monogenic skin diseases.Cell and tissue research · 2026Review
- Developmental defects of enamel and dental anomalies in children with skin diseases.Clinical oral investigations · 2025Article
- HAI-1 is required for the novel role of FGFBP1 in maintenance of cell morphology and F-actin rearrangement in human keratinocytes.Human cell · 2023Article
- PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis.Human genetics · 2023Article
- ROS is a master regulator of in vitro matriptase activation.PloS one · 2023Article
- Loricrin at the Boundary between Inside and Outside.Biomolecules · 2022Review
- Variants in theMolecular syndromology · 2021Article
- Pili Torti: A Feature of Numerous Congenital and Acquired Conditions.Journal of clinical medicine · 2021Review
- Targeted deletion of HAI-1 increases prostasin proteolysis but decreases matriptase proteolysis in human keratinocytes.Human cell · 2021Article
- Preparing the hair follicle canal for hair shaft emergence.Experimental dermatology · 2021Article
- Experimental Models for the Study of Hereditary Cornification Defects.Biomedicines · 2021Review
- "Structural imprinting" of the cutaneous immune effector function.Tissue barriers · 2021Review
- Article
- Matriptase and prostasin proteolytic activities are differentially regulated in normal and wounded skin.Human cell · 2020Article
- Mutations in ASPRV1 Cause Dominantly Inherited Ichthyosis.American journal of human genetics · 2020Article
- Review
- Membrane-anchored serine proteases as regulators of epithelial function.Biochemical Society transactions · 2020Review
- Matriptase Cleaves EpCAM and TROP2 in Keratinocytes, Destabilizing Both Proteins and Associated Claudins.Cells · 2020Article
- Genetics of Inherited Ichthyoses and Related Diseases.Acta dermato-venereologica · 2020Review
15 more citing papers are in PubMed but not listed here.
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Authors and funding
13 authors at 6 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this article, we describe a novel autosomal recessive ichthyosis with hypotrichosis syndrome, characterized by congenital ichthyosis associated with abnormal hair. Using homozygosity mapping, we mapped the disease locus to 11q24.3-q25. We screened the ST14 gene, which encodes matriptase, since transplantation of skin from matriptase(-/-)-knockout mice onto adult athymic nude mice has been shown elsewhere to result in an ichthyosislike phenotype associated with almost complete absence of erupted pelage hairs. Mutation analysis revealed a missense mutation, G827R, in the highly conserved peptidase S1-S6 domain. Marked skin hyperkeratosis due to impaired degradation of the stratum corneum corneodesmosomes was observed in the affected individuals, which suggests that matriptase plays a significant role in epidermal desquamation.
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