Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.E138K
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CARD14

NM_001366385.1:p.E138K

Associated Papers

Successful treatment of generalized inflammatory linear verrucous epidermal naevus with a somatic mutation in KRT10 with crisaborole 2% ointment.

Li Z et al.

Clinical and Experimental Dermatology, 2025

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.

Gram SB et al.

Jama Dermatology, 2025

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

Effect of secukinumab on inflammatory linear verrucous epidermal naevus with a somatic mutation in CARD14.

Zhao X et al.

Clinical and Experimental Dermatology, 2024

Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel CARD14 mutation.

Niedźwiedź M et al.

Frontiers in Medicine, 2024

Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.

Suleman S et al.

International Journal of Molecular Sciences, 2022

Identification of a pathogenic CARD14 mutation in a 70-year-old woman with pityriasis rubra pilaris: when genetic diagnosis influences choice of treatment strategy.

Nielsen RM et al.

Bmj Case Reports, 2021

CARD14-mutations in pityriasis rubra pilaris and therapeutic response to ustekinumab - a hypothesis.

Volc-Platzer B

Journal Der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : Jddg, 2020

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

Mellett M

Cellular Immunology, 2020

CARD14-associated papulosquamous eruption: A spectrum including features of psoriasis and pityriasis rubra pilaris.

Craiglow BG et al.

Journal of the American Academy of Dermatology, 2018

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

Target-sequence Capture and High Throughput Sequencing Identify a De novo CARD14 Mutation in an Infant with Erythrodermic Pityriasis Rubra Pilaris.

Has C et al.

Acta Dermato-venereologica, 2016

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar

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

Inoue N et al.

The Journal of Dermatology, 2016

[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].

Kamaleswaran S et al.

Ugeskrift for Laeger, 2014

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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."