Associated Papers
Beneath the surface: delineating the subtypes of Dowling-Degos disease.
Kumar S et al.
The British Journal of Dermatology, 2025
PSENEN mutation in a Chinese family manifesting as concurrent hidradenitis suppurativa and Dowling-Degos disease: a case report of four generations.
Song Q et al.
Frontiers in Medicine, 2025
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
Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.
Vellaichamy G et al.
The Journal of Investigative Dermatology, 2021
Mutations in γ-secretase subunit-encoding PSENEN gene alone may not be sufficient for the development of acne inversa.
Zhou P et al.
Journal of Dermatological Science, 2021
Full exome sequencing of 11 families with Hidradenitis suppurativa.
Theut Riis P et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
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
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
PSENEN c.66delG in sporadic acne inversa.
Liu Y et al.
European Journal of Dermatology : Ejd, 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
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
γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.
Pink AE et al.
The Journal of Investigative Dermatology, 2013
Gamma-secretase gene mutations in familial acne inversa.
Wang B et al.
Science (new York, N.y.), 2010
Successful treatment of early-onset hidradenitis suppurativa with acitretin in an infant with a novel mutation in PSENEN gene.
Chen AW et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
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