Associated Papers
Genetic factors associated with hidradenitis suppurativa, a literature review.
Eble SM et al.
International Journal of Women's Dermatology, 2024
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
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
Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.
Li W et al.
The British Journal of Dermatology, 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
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?
Li C et al.
The Journal of Investigative 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
A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.
Panmontha W et al.
Dermatology (basel, Switzerland), 2015
Two novel mutations of the NCSTN gene in Chinese familial acne inverse.
Zhang C et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2013
A novel nicastrin mutation in a large Chinese family with hidradenitis suppurativa.
Jiao T et al.
The British Journal of Dermatology, 2013
PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).
Pink AE et al.
The Journal of Investigative Dermatology, 2011
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