Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.R547S
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CARD14

NM_001366385.1:p.R547S

Associated Papers

Epidemiological, Genetic, Clinical, and Treatment Differences of Generalized Pustular Psoriasis and Acrodermatitis Continua of Hallopeau Across Ethnicities: A Systematic Review.

Hsu FL et al.

American Journal of Clinical Dermatology, 2025

Spesolimab Treatment in GPP: Impact of IL-36RN Mutations and Concomitant Plaque Psoriasis.

Li W et al.

Clinical, Cosmetic and Investigational Dermatology, 2025

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

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.

Suleman S et al.

International Journal of Molecular Sciences, 2022

Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.

Sharma P et al.

Frontiers in Genetics, 2021

34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1

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

Immune-regulatory genes as possible modifiers of familial pityriasis rubra pilaris - lessons from a family with PRP and psoriasis.

Spoerri I et al.

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

Nuclear Factor κB Activation in a Type V Pityriasis Rubra Pilaris Patient Harboring Multiple CARD14 Variants.

Danis J 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

Pyoderma gangrenosum, acne, and suppurative hidradenitis syndrome in end-stage renal disease successfully treated with adalimumab.

De Wet J et al.

Dermatology Online Journal, 2017

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

Eskin-Schwartz M et al.

Acta Dermato-venereologica, 2016

Common and rare CARD14 gene variants affect the antitumour necrosis factor response among patients with psoriasis.

Coto-Segura P et al.

The British Journal of Dermatology, 2016

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

Li Q et al.

The Journal of Investigative Dermatology, 2015

25734815 (PubMed )
Supplement: NIHMS666173-supplement-supplement_1.pdf

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

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

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

Correlation of IL36RN and CARD14 mutations with clinical manifestations and laboratory findings in patients with generalised pustular psoriasis.

Trai NN et al.

Indian Journal of Dermatology, Venereology and Leprology, 0

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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."