Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.Y56*
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PSENEN

NM_172341.4:p.Y56*

Associated Papers

Beneath the surface: delineating the subtypes of Dowling-Degos disease.

Kumar S et al.

The British Journal of Dermatology, 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

39408704 (PubMed )
Supplement: ijms-25-10374-s001.zip › ijms-3168929_Supplementary_Table_S1.xlsx › Data

Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling.

de Oliveira ASLE et al.

Biomolecules, 2022

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

32078194 (PubMed )
Supplement: JDV-34-2353-s001.docx

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

Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.

Li W et al.

The British Journal of Dermatology, 2019

A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.

Pavlovsky M et al.

The British Journal of Dermatology, 2018

Hidradenitis Suppurativa: Comprehensive Review of Predisposing Genetic Mutations and Changes.

Jfri AH et al.

Journal of Cutaneous Medicine and Surgery, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."