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

Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Sugiura K

Dermatology and Therapy, 2022

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

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

Zhou J et al.

International Journal of Molecular Medicine, 2021

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

Mellett M

Cellular Immunology, 2020

Gain of function p.E138A alteration in Card14 leads to psoriasiform skin inflammation and implicates genetic modifiers in disease severity.

Sundberg JP et al.

Experimental and Molecular Pathology, 2019

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

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

Van Nuffel E et al.

The Journal of Investigative Dermatology, 2017

Variant analysis of CARD14 in a Chinese Han population with psoriasis vulgaris and generalized pustular psoriasis.

Qin P et al.

The Journal of Investigative Dermatology, 2014

24999592 (PubMed )
Supplement: jid2014269x1.pdf

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

Hong JB et al.

Acta Dermato-venereologica, 2014

The three CARMA sisters: so different, so similar: a portrait of the three CARMA proteins and their involvement in human disorders.

Scudiero I et al.

Journal of Cellular Physiology, 2014

PSORS2 is due to mutations in CARD14.

Jordan CT et al.

American Journal of Human Genetics, 2012

Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

Jordan CT 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."