Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.G117S
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CARD14

NM_001366385.1:p.G117S

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

Bioinformatic analysis of molecular characteristics and oncogenic features of CARD14 in human cancer.

Bespalov D et al.

Scientific Reports, 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

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

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

Prevalence, comorbidities and mortality of generalized pustular psoriasis: A literature review.

Prinz JC et al.

Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023

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

Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.

Quinn J et al.

Frontiers in Immunology, 2022

35757720 (PubMed )
Supplement: DataSheet_1.pdf

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

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

Uppala R et al.

Cellular & Molecular Immunology, 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

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

Updating and identifying three novel variants of the CARD14 gene in Chinese Han patients with psoriasis.

Huang Y et al.

Journal of Genetics, 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

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 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

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

Akiyama M et al.

Journal of Dermatological Science, 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

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

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations.

Takeichi T et al.

Jama Dermatology, 2017

Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis.

Eskin-Schwartz M et al.

Acta Dermato-venereologica, 2016

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

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

Ammar M et al.

The British Journal of Dermatology, 2016

CARD14 alterations and psoriasis: are psoriasis and related disorders genetic autoinflammatory diseases?

Akiyama M

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

Genetic disease & gene regulation.

Unknown Author

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

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

CARD14 c.526G>C (p.Asp176His) is a significant risk factor for generalized pustular psoriasis with psoriasis vulgaris in the Japanese cohort.

Sugiura K et al.

The Journal of Investigative Dermatology, 2014

The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants.

Sugiura K

Journal of Dermatological Science, 2014

Mutations in IL36RN in patients with generalized pustular psoriasis.

Körber A et al.

The Journal of Investigative Dermatology, 2013

The expanding spectrum of rare monogenic autoinflammatory diseases.

Touitou I et al.

Orphanet Journal of Rare Diseases, 2013

SNP rs11652075 in the CARD14 gene as a risk factor for psoriasis (PSORS2) in a Spanish cohort.

González-Lara L et al.

Dna and Cell Biology, 2013

Genome-wide linkage scan for psoriasis susceptibility loci in multiplex Tunisian families.

Ammar M et al.

The British Journal of Dermatology, 2013

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

[Familial psoriasis: descriptive report of 9 families].

Ammar M et al.

La Tunisie Medicale, 2009

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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."