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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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
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
Evaluation of Bioinformatic Programmes for the Analysis of Variants within Splice Site Consensus Regions.
Tang R et al.
Advances in Bioinformatics, 2016
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
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