Integrated bioinformatics analysis reveals convergent molecular signatures associated with SERPINB7 and SERPINA12 deficiency
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Le résumé fourni par la source
Background Pathogenic variants in SERPINA12 have recently been identified in patients with palmoplantar keratoderma (PPK). Clinically, SERPINA12-associated PPK shares substantial overlap with Nagashima-type palmoplantar keratoderma (NPPK) caused by SERPINB7 deficiency, although inflammatory manifestations appear to be more prominent in SERPINA12-associated disease. The molecular basis underlying these similarities and differences remains unclear. Methods Virtual knockout analyses of SERPINA12 and SERPINB7 were performed using the scTenifoldKnk framework. Functional enrichment analyses, including GO, KEGG, and GSEA, were conducted to characterize perturbed biological pathways. Correlation analyses were performed using extracellular matrix (ECM)- and inflammation-related gene signatures. In addition, SERPINA12 was overexpressed in TNF-α-stimulated HaCaT keratinocytes to evaluate its effects on inflammatory cytokine expression. Results Both SERPINA12 and SERPINB7 were associated with ECM-related biological processes and pathways, suggesting a potential shared role in extracellular matrix homeostasis. However, SERPINA12 deficiency preferentially perturbed immune- and inflammation-related pathways, including Toll-like receptor signaling, interleukin signaling, and leukocyte activation. Consistently, SERPINA12 overexpression significantly reduced TNF-α, IL-8, and IL-1β expression in TNF-α-stimulated HaCaT cells. Conclusion SERPINA12 and SERPINB7 are associated with extracellular matrix-associated functions that may account for their similar keratoderma phenotypes. In contrast, SERPINA12 additionally may exerts anti-inflammatory effects, providing a potential molecular explanation for the enhanced inflammatory manifestations observed in SERPINA12-associated PPK.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Integrated bioinformatics analysis reveals convergent molecular signatures associated with SERPINB7 and SERPINA12 deficiency
- Date Crossref
- 20/08/2026
- Éditeur
- Frontiers Media SA
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Fuzhou General Hospital of Nanjing Military Command pays non établi dans la noticeÉtablissement de santé
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Xinxiang Central Hospital Department of Respiratory and Critical Care pays non établi dans la noticeÉtablissement de santé
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Clinical Research Center for Hair and Skin Science pays non établi dans la noticeStructure de recherche
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Fujian Provincial Cancer Hospital pays non établi dans la noticeÉtablissement de santé
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Aesthetic Surgery Center pays non établi dans la noticeÉtablissement de santé
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Charité - Universitätsmedizin Berlin pays non établi dans la noticeÉtablissement de santé
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Fuzhou First General Hospital Department of Dermatology pays non établi dans la noticeÉtablissement de santé
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Fujian Medical University Cancer Hospital Department of Pathology pays non établi dans la noticeUniversité ou école supérieure
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Beijing Pinsu Medical Aesthetic Clinic Department of Dermatology pays non établi dans la noticeÉtablissement de santé
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Department of Dermatology pays non établi dans la noticeInstitution
Fuzhou General Hospital of Nanjing Military Command, Department of Respiratory and Critical Care — Xinxiang Central Hospital et Clinical Research Center for Hair and Skin Science, avec 7 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.