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
Genetic factors associated with hidradenitis suppurativa, a literature review.
Eble SM et al.
International Journal of Women's Dermatology, 2024
NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.
Mintoff D et al.
Jama Dermatology, 2023
Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.
Vellaichamy G et al.
The Journal of Investigative Dermatology, 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
Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family.
Wu J et al.
Annals of Dermatology, 2020
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
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 2017
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.
Zhou C et al.
Chinese Medical Journal, 2016
Genetic analysis of NCSTN for potential association with hidradenitis suppurativa in familial and nonfamilial patients.
Liu M et al.
The British Journal of Dermatology, 2016
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
Acne inversa caused by missense mutations in NCSTN is not fully compatible with impairments in Notch signaling.
Zhang X et al.
The Journal of Investigative Dermatology, 2015
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.
Pink AE et al.
The Journal of Investigative Dermatology, 2013
Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).
Pink AE et al.
The Journal of Investigative Dermatology, 2012
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