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
NCSTN In-Frame Deletion in Maltese Patients With Hidradenitis Suppurativa.
Mintoff D et al.
Jama Dermatology, 2023
Interpreting the spectrum of gamma-secretase complex missense variation in the context of hidradenitis suppurativa-An in-silico study.
Mintoff D et al.
Frontiers in Genetics, 2022
Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.
Vellaichamy G et al.
The Journal of Investigative Dermatology, 2021
Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.
Ye Y et al.
Experimental Hematology & Oncology, 2021
33546774 (PubMed )
Supplement: 40164_2021_200_MOESM2_ESM.xlsx › Table_S2
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
32078194 (PubMed )
Supplement: JDV-34-2353-s001.docx
Genetic Dissection of Hypertrophic Cardiomyopathy with Myocardial RNA-Seq.
Gao J et al.
International Journal of Molecular Sciences, 2020
32344918 (PubMed )
Supplement: ijms-21-03040-s001.zip › Supplementary_Data › Supplementary_Data_2.xlsx › S_Data_2
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
31608281 (PubMed )
Supplement: Data_Sheet_1.PDF
A systematic review and critical evaluation of reported pathogenic sequence variants in hidradenitis suppurativa.
Frew JW et al.
The British Journal of Dermatology, 2017
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
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