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
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
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
Identification and Clinical Analysis of the First Nonsense Mutation in the PSEN1 Gene in a Family With Acute Encephalopathy and Retinitis Pigmentosa.
You C et al.
Frontiers in Neurology, 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
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
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
Differential, dominant activation and inhibition of Notch signalling and APP cleavage by truncations of PSEN1 in human disease.
Newman M et al.
Human Molecular Genetics, 2014
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
Robust homeostasis of Presenilin1 protein levels by transcript regulation.
Newman M et al.
Neuroscience Letters, 2012
Gamma-secretase gene mutations in familial acne inversa.
Wang B et al.
Science (new York, N.y.), 2010
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
The genetic aspects of hidradenitis suppurativa.
Balić A et al.
Clinics in Dermatology, 0