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

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

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

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

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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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."