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Article

γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

The Journal of investigative dermatology - 1 Mar 2013

Pink Andrew E, Simpson Michael A, Desai Nemesha, Trembath Richard C, Barker Jonathan N W

Abstract excerpt

Hidradenitis suppurativa (HS) is a debilitating chronic inflammatory skin condition of unclear etiology. It may segregate as an autosomal dominant trait, and heterozygous mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 have recently been reported in a small number of multiplex kindreds and sporadic cases. These mutations highlight γ-secretase (an enzyme that has been extensively investigated in...

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Source

Identifiers

PMID: 23096707
DOI: 10.1038/jid.2012.372

Genes

NCSTN
PSEN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.PMID 23096707Read ↗

γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.Semantic proximity Read ↗

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

Expanding the spectrum of γ‐secretase gene mutation‐associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobataSemantic proximity Read ↗

Gamma-secretase gene mutations in familial acne inversa.Semantic proximity Read ↗

Investigation of gamma secretase gene complex mutations in German population with Hidradenitis suppurativa designate a complex polygenic heritage.Semantic proximity Read ↗

Full exome sequencing of 11 families with Hidradenitis suppurativaSemantic proximity Read ↗

Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 PatientsSemantic 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 novel splice site mutation in NCSTN underlies a Japanese family with hidradenitis suppurativa.Semantic proximity Read ↗

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

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

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