Varaico: Literature-Extracted Genetic Variants

Gene:IL36RN
Variant:p.E94*
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IL36RN

NM_012275.3:p.E94*

Associated Papers

Epidemiological, Genetic, Clinical, and Treatment Differences of Generalized Pustular Psoriasis and Acrodermatitis Continua of Hallopeau Across Ethnicities: A Systematic Review.

Hsu FL et al.

American Journal of Clinical Dermatology, 2025

A viewpoint on the genetic determinants of generalised pustular psoriasis.

Capon F

Experimental Dermatology, 2023

An update on genetic basis of generalized pustular psoriasis (Review).

Zhou J et al.

International Journal of Molecular Medicine, 2021

Codeine-induced acute generalized exanthematous pustulosis without IL36RN mutations.

Chadli Z et al.

Pharmacogenomics, 2018

The genetic basis for most patients with pustular skin disease remains elusive.

Mössner R et al.

The British Journal of Dermatology, 2018

Clinical profiles of pediatric patients with GPP alone and with different IL36RN genotypes.

Wang Y et al.

Journal of Dermatological Science, 2017

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

Association analysis of psoriasis vulgaris and psoriatic arthritis with loss-of-function mutations in IL36RN in German patients.

Löhr S et al.

The British Journal of Dermatology, 2016

IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases.

Tauber M et al.

The Journal of Investigative Dermatology, 2016

Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.

Mössner R et al.

The Journal of Investigative Dermatology, 2015

IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis.

Hussain S et al.

The Journal of Allergy and Clinical Immunology, 2015

Generalized pustular psoriasis with a novel mutation of interleukin-36 receptor antagonist, responding to methotrexate.

Teoh YL et al.

Jaad Case Reports, 2015

Novel IL36RN gene mutation revealed by analysis of 8 Japanese patients with generalized pustular psoriasis.

Hayashi M et al.

Journal of Dermatological Science, 2014

Six mutations in AAGAB confirm its pathogenic role in Chinese punctate palmoplantar keratoderma patients.

Cui H et al.

The Journal of Investigative Dermatology, 2013

Mutations in IL36RN in patients with generalized pustular psoriasis.

Körber A et al.

The Journal of Investigative Dermatology, 2013

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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."