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Article

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.

International journal of molecular sciences - 26 Sept 2024

Muret Kévin, Le Goff Vincent, Dandine-Roulland Claire, Hotz Claire, Jean-Louis Francette, Boisson Bertrand, Mesrob Lilia, Sandron Florian, Daian Delphine, Olaso Robert, Le Floch Edith, Meyer Vincent, Wolkenstein Pierre, Casanova Jean-Laurent, Lévy Yves, Bonnet Eric, Deleuze Jean-François, Hüe Sophie

Abstract excerpt

Hidradenitis suppurativa (HS) is a chronic skin disease characterized by painful, recurrent abscesses, nodules, and scarring, primarily in skin folds. The exact causes of HS are multifactorial, involving genetic, hormonal, and environmental factors. It is associated with systemic diseases such as metabolic syndrome and inflammatory bowel disease. Genetic studies have identified mutations in the γ-secretase...

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Amyloid Precursor Protein Secretases
Cohort Studies
Exome Sequencing
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genetic Variation

Hidradenitis Suppurativa

Receptors, Notch

Signal Transduction

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Identifiers

PMID: 39408704
DOI: 10.3390/ijms251910374
PMCID: PMC11476843

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Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.PMID 39408704Read ↗

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