Associated Papers
Comprehensive Catalog of Variants Potentially Associated with Hidradenitis Suppurativa, Including Newly Identified Variants from a Cohort of 100 Patients.
Muret K et al.
International Journal of Molecular Sciences, 2024
Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.
Vellaichamy G et al.
The Journal of Investigative Dermatology, 2021
γ-Secretase Genetics of Hidradenitis Suppurativa: A Systematic Literature Review.
Wang Z et al.
Dermatology (basel, Switzerland), 2021
A novel nicastrin mutation in a three-generation Dutch family with hidradenitis suppurativa: a search for functional significance.
Vossen ARJV et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2020
32078194 (PubMed )
Supplement: JDV-34-2353-s001.docx
A gene dysfunction module reveals the underlying pathogenesis of hidradenitis suppurativa: An update.
Li X et al.
The Australasian Journal of Dermatology, 2020
Inter-rater reliability of phenotypes and exploratory genotype-phenotype analysis in inherited hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 2019
Analysis of hidradenitis suppurativa-linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages.
Li A et al.
Human Molecular Genetics, 2019
In silico Analysis of Gamma-Secretase-Complex Mutations in Hidradenitis Suppurativa Demonstrates Disease-Specific Substrate Recognition and Cleavage Alterations.
Frew JW et al.
Frontiers in Medicine, 2019
31608281 (PubMed )
Supplement: Data_Sheet_1.PDF
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 2017
Expanding the spectrum of γ-secretase gene mutation-associated phenotypes: two novel mutations segregating with familial hidradenitis suppurativa (acne inversa) and acne conglobata.
Ratnamala U et al.
Experimental Dermatology, 2016
An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.
Ratnamala U et al.
Indian Journal of Dermatology, 0
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