Varaico: Literature-Extracted Genetic Variants

Gene:PSENEN
Variant:p.L65R
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PSENEN

NM_172341.4:p.L65R

Associated Papers

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

Kumar S et al.

The British Journal of Dermatology, 2025

Pathogenic variants in PSENEN and NCSTN genes cause 'follicular' Dowling-Degos disease: Report of five unrelated Indian families.

Gupta V et al.

Indian Journal of Dermatology, Venereology and Leprology, 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

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

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

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

Li W et al.

The British Journal of Dermatology, 2019

PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?

Li C et al.

The Journal of Investigative Dermatology, 2017

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

Zhou C et al.

Chinese Medical Journal, 2016

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

Jfri AH et al.

Journal of Cutaneous Medicine and Surgery, 0

Successful treatment of early-onset hidradenitis suppurativa with acitretin in an infant with a novel mutation in PSENEN gene.

Chen AW et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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."