Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.G117Splc
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CARD14

NM_001366385.1:p.G117Splc

Associated Papers

Clinical Characteristics of CARD14-Associated Papulosquamous Eruption and Evaluation of Therapeutic Efficacy of Secukinumab.

Zhao X et al.

Journal of Inflammation Research, 2025

Targeting IL-1 controls refractory pityriasis rubra pilaris.

Schmauch E et al.

Science Advances, 2024

38959302 (PubMed )
Supplement: sciadv.ado2365_sm.pdf

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

Regulation and dysregulation of CARD14 signalling and its physiological consequences in inflammatory skin disease.

Mellett M

Cellular Immunology, 2020

CARD14/CARMA2 Signaling and its Role in Inflammatory Skin Disorders.

Zotti T et al.

Frontiers in Immunology, 2018

Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease.

Israel L et al.

Frontiers in Immunology, 2018

Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation.

Takeichi T et al.

The British Journal of Dermatology, 2017

CARD14-Mediated Activation of Paracaspase MALT1 in Keratinocytes: Implications for Psoriasis.

Van Nuffel E et al.

The Journal of Investigative Dermatology, 2017

CARD14 Glu138 mutation in familial pityriasis rubra pilaris does not warrant differentiation from familial psoriasis.

Inoue N et al.

The Journal of Dermatology, 2016

Genetic analysis of CARD14 in non-familial pityriasis rubra pilaris: a case series.

Hong JB et al.

Acta Dermato-venereologica, 2014

Familial pityriasis rubra pilaris is caused by mutations in CARD14.

Fuchs-Telem D et al.

American Journal of Human Genetics, 2012

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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."