Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.S200N
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CARD14

NM_001366385.1:p.S200N

Associated Papers

Regulation of MYC by CARD14 in human epithelium is a determinant of epidermal homeostasis and disease.

DeVore SB et al.

Cell Reports, 2024

39110589 (PubMed )
Supplement: NIHMS2019535-supplement-1.pdf

A novel CARD14 variant, homozygous c.526G>C (p.Asp176His), in an adolescent Japanese patient with palmoplantar pustulosis.

Tobita R et al.

Clinical and Experimental Dermatology, 2019

The management and genetic background of pityriasis rubra pilaris: a single-centre experience.

Gál B et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2019

Molecular genetic investigation, clinical features, and response to treatment in 21 patients with Schnitzler syndrome.

Rowczenio DM et al.

Blood, 2018

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

Mössner R et al.

The British Journal 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

CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.

Ammar M et al.

The British Journal of Dermatology, 2016

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.

Berki DM et al.

The Journal of Investigative Dermatology, 2015

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

Analysis of CARD14 Polymorphisms in Pityriasis Rubra Pilaris: Activation of NF-κB.

Li Q et al.

The Journal of Investigative Dermatology, 2015

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

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

Mutations in IL36RN in patients with generalized pustular psoriasis.

Körber A et al.

The Journal of Investigative Dermatology, 2013

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."