Insights from γ-secretase: Functional Genetics of Hidradenitis Suppurativa
| Autor: | Wilson Liao, Gautham Vellaichamy, Iltefat H. Hamzavi, David M. Ozog, Henry W. Lim, Qing-Sheng Mi, Li Zhou, Peter Dimitrion |
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| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Clinical Sciences Oncology and Carcinogenesis Context (language use) Dermatology Disease Biochemistry Article Pathogenesis 03 medical and health sciences 0302 clinical medicine Genetic predisposition medicine Genetics 2.1 Biological and endogenous factors Humans Hidradenitis suppurativa Genetic Predisposition to Disease Aetiology Molecular Biology Innate immune system Genetic heterogeneity business.industry Dermatology & Venereal Diseases Cell Biology medicine.disease Hair follicle Hidradenitis Suppurativa 030104 developmental biology medicine.anatomical_structure 030220 oncology & carcinogenesis Immunology Mutation Amyloid Precursor Protein Secretases business |
| Zdroj: | J Invest Dermatol The Journal of investigative dermatology, vol 141, iss 8 |
| Popis: | Hidradenitis suppurativa (HS) is a chronic, relapsing, and remitting inflammatory disease of the skin with significant heritability and racial disposition. The pathogenesis of HS remains enigmatic, but occlusion of the terminal hair follicle and dysregulation of the local innate immune response may contribute to pathogenesis. Genetic predisposition might also contribute to disease susceptibility and phenotypic heterogeneity because mutations in γ-secretase have been found to underlie a minor but characteristic subset of patients with HS. In this review, we synthesized the current data on γ-secretase in HS, evaluated its importance in the context of disease pathobiology, and discussed avenues of future studies. |
| Databáze: | OpenAIRE |
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