Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.E138A
Back to variants list

CARD14

NM_001366385.1:p.E138A

Associated Papers

The CARD14sh-BCL10-MALT1 complex regulates MAVS-mediated antiviral response in keratinocytes.

Zerillo L et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40489607 (PubMed )
Supplement: pnas.2500711122.sapp.pdf

Similar Molecular Features in Two Cases of CARD14-Associated Papulosquamous Eruption.

Wang Y et al.

The Australasian Journal of Dermatology, 2025

Generalized pustular psoriasis: immunological mechanisms, genetics, and emerging therapeutics.

Lee CC et al.

Trends in Immunology, 2025

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

Zhao X et al.

Journal of Inflammation Research, 2025

Polo-like kinase 1 (PLK1) is a novel CARD14-binding protein in keratinocytes.

Iliaki S et al.

Biochemical Pharmacology, 2024

CARD14 signalosome formation is associated with its endosomal relocation and mTORC1-induced keratinocyte proliferation.

O'Sullivan PA et al.

The Biochemical Journal, 2024

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

DeVore SB et al.

Cell Reports, 2024

Targeting IL-1 controls refractory pityriasis rubra pilaris.

Schmauch E et al.

Science Advances, 2024

38959302 (PubMed )
Supplement: sciadv.ado2365_sm.pdf

Chimeric and mutant CARD9 constructs enable analyses of conserved and diverged autoinhibition mechanisms in the CARD-CC protein family.

Staal J et al.

The Febs Journal, 2024

Pathophysiology of generalized pustular psoriasis.

Young KZ et al.

Experimental Dermatology, 2023

Genetic underpinnings of the psoriatic spectrum.

Hüffmeier U et al.

Medizinische Genetik : Mitteilungsblatt Des Berufsverbandes Medizinische Genetik E.v, 2023

CARD14 Missense Variant Underlying CARD14-Associated Papulosquamous Eruption with Beneficial Response to Secukinumab.

Dai S et al.

Jid Innovations : Skin Science From Molecules to Population Health, 2023

The role of the CBM complex in allergic inflammation and disease.

DeVore SB et al.

The Journal of Allergy and Clinical Immunology, 2022

Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.

Suleman S et al.

International Journal of Molecular Sciences, 2022

Role of Interleukin 36 in Generalised Pustular Psoriasis and Beyond.

Sugiura K

Dermatology and Therapy, 2022

The paracaspase MALT1 in psoriasis.

Hailfinger S et al.

Biological Chemistry, 2021

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

Intrinsic Abnormalities of Keratinocytes Initiate Skin Inflammation through the IL-23/T17 Axis in a MALT1-Dependent Manner.

Zhang S et al.

Journal of Immunology (baltimore, Md. : 1950), 2021

"Autoinflammatory psoriasis"-genetics and biology of pustular psoriasis.

Uppala R et al.

Cellular & Molecular Immunology, 2021

UBAC1/KPC2 Regulates TLR3 Signaling in Human Keratinocytes through Functional Interaction with the CARD14/CARMA2sh-TANK Complex.

Mazzone P et al.

International Journal of Molecular Sciences, 2020

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

Mellett M

Cellular Immunology, 2020

MALT1 targeting suppresses CARD14-induced psoriatic dermatitis in mice.

Van Nuffel E et al.

Embo Reports, 2020

Two cases of CARD14-associated papulosquamous eruption from India.

Chiramel MJ et al.

Pediatric Dermatology, 2020

CARD14E138A signalling in keratinocytes induces TNF-dependent skin and systemic inflammation.

Manils J et al.

Elife, 2020

CARD14/CARMA2sh and TANK differentially regulate poly(I:C)-induced inflammatory reaction in keratinocytes.

Voccola S et al.

Journal of Cellular Physiology, 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

Combining Understanding of Immunological Mechanisms and Genetic Variants Toward Development of Personalized Medicine for Psoriasis Patients.

Gunter NV et al.

Frontiers in Genetics, 2019

Investigation of Psoriasis Susceptibility Loci in Psoriatic Arthritis and a Generalized Pustular Psoriasis Cohort.

Zhang Z et al.

The Journal of Investigative Dermatology. Symposium Proceedings, 2018

CARD14 Gain-of-Function Mutation Alone Is Sufficient to Drive IL-23/IL-17-Mediated Psoriasiform Skin Inflammation In Vivo.

Mellett M et al.

The Journal of Investigative Dermatology, 2018

Gain-of-Function Mutation of Card14 Leads to Spontaneous Psoriasis-like Skin Inflammation through Enhanced Keratinocyte Response to IL-17A.

Wang M et al.

Immunity, 2018

Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.

Akiyama M et al.

Journal of Dermatological Science, 2018

Holding All the CARDs: How MALT1 Controls CARMA/CARD-Dependent Signaling.

Juilland M et al.

Frontiers in Immunology, 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

The E3 Ubiquitin Ligase RNF7 Negatively Regulates CARD14/CARMA2sh Signaling.

Telesio G et al.

International Journal of Molecular Sciences, 2017

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

Van Nuffel E et al.

The Journal of Investigative Dermatology, 2017

CARMA2sh and ULK2 control pathogen-associated molecular patterns recognition in human keratinocytes: psoriasis-linked CARMA2sh mutants escape ULK2 censorship.

Scudiero I et al.

Cell Death & Disease, 2017

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

Martorana D et al.

Frontiers in Immunology, 2017

Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-κB activation.

Howes A et al.

The Biochemical Journal, 2016

The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes.

Afonina IS et al.

Embo Reports, 2016

One SNP at a Time: Moving beyond GWAS in Psoriasis.

Ray-Jones H et al.

The Journal of Investigative Dermatology, 2016

Interaction of CARD14, SENP1 and VEGFA polymorphisms on susceptibility to high altitude polycythemia in the Han Chinese population at the Qinghai-Tibetan Plateau.

Chen Y et al.

Blood Cells, Molecules & Diseases, 2016

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

Inoue N et al.

The Journal of Dermatology, 2016

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

Functional characterization of zebrafish (Danio rerio) Bcl10.

Mazzone P et al.

Plos One, 2015

1–50 of 57 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."