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Article

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

The British journal of dermatology - 1 Oct 2017

Frew J W, Vekic D A, Woods J, Cains G D

Abstract excerpt

Hidradenitis suppurativa (HS) is a severe chronic inflammatory disorder characterized by recurrent painful deep-seated nodules with a predilection to the apocrine-bearing areas of skin. A minority of cases of HS are due to mutations in the γ-secretase complex. Contention exists surrounding the pathogenicity of sequence variants and their effects upon Notch signalling. This systematic review was registered with...

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Source

Identifiers

PMID: 28278367
DOI: 10.1111/bjd.15441

Genes

PSTPIP1

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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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.PMID 28278367Read ↗

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

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

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

Rare missense variants in the SH3 domain of <i>PSTPIP1</i> are associated with hidradenitis suppurativaSemantic proximity Read ↗

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

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

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and ChangesSemantic 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 ↗

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

Impaired Notch-MKP-1 signalling in hidradenitis suppurativa: an approach to pathogenesis by evidence from translational biology.Semantic proximity Read ↗

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

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

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