Article

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

2024-08-07

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 like metabolic syndrome and inflammatory bowel disease. Genetic studies have identified mutations in the γ-secretase complex, w...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: dfefc47f-caed-59e6-8177-9ff9d28a7a6c
DOI: 10.20944/preprints202408.0431.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 PatientsDOI 10.20944/preprints202408.0431.v1Read

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

Full exome sequencing of 11 families with Hidradenitis suppurativaSemantic proximity Read

Hidradenitis Suppurativa: A Perspective on Genetic Factors Involved in the DiseaseSemantic proximity Read

Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals.Semantic proximity Read

A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.Semantic proximity Read

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and ChangesSemantic proximity Read

Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.Semantic proximity Read

NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.Semantic proximity Read

Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophagesSemantic proximity Read

A genome-wide association meta-analysis links hidradenitis suppurativa to common and rare sequence variants causing disruption of the Notch and Wnt/β-catenin signaling pathways.Semantic proximity Read

Genetic Variants Associated With Hidradenitis SuppurativaSemantic proximity Read

Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic SignalingSemantic proximity Read