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Page 1
Clinical and Genetic Heterogeneity of CARD14 Mutations in Psoriatic Skin Disease.
Israel L, Mellett M. Israel L, et al. Front Immunol. 2018 Oct 16;9:2239. doi: 10.3389/fimmu.2018.02239. eCollection 2018. Front Immunol. 2018. PMID: 30386326 Free PMC article. Review.
Following the identification of CARD14 gain-of function mutations as responsible for the psoriasis susceptibility locus PSORS2, the past years have witnessed a large volume of case reports and association studies describing CARD14 variants as causal or predisposing …
Following the identification of CARD14 gain-of function mutations as responsible for the psoriasis susceptibility locus PSORS2, the p …
Regulation and dysregulation of CARD14 signalling and its physiological consequences in inflammatory skin disease.
Mellett M. Mellett M. Cell Immunol. 2020 Aug;354:104147. doi: 10.1016/j.cellimm.2020.104147. Epub 2020 Jun 13. Cell Immunol. 2020. PMID: 32593012 Review.
CARD14 is a scaffold molecule predominantly expressed in keratinocytes and genetic variants in the CARD14 gene confer an increased risk of inflammatory skin disease. Due to its association with common skin diseases psoriasis and atopic dermatitis, the biological fun …
CARD14 is a scaffold molecule predominantly expressed in keratinocytes and genetic variants in the CARD14 gene confer an incre …
CARD14 signalosome formation is associated with its endosomal relocation and mTORC1-induced keratinocyte proliferation.
O'Sullivan PA, Aidarova A, Afonina IS, Manils J, Thurston TLM, Instrell R, Howell M, Boeing S, Ranawana S, Herpels MB, Chetian R, Bassa M, Flynn H, Frith D, Snijders AP, Howes A, Beyaert R, Bowcock AM, Ley SC. O'Sullivan PA, et al. Biochem J. 2024 Sep 18;481(18):1143-1171. doi: 10.1042/BCJ20240058. Biochem J. 2024. PMID: 39145956 Free PMC article.
Rare mutations in CARD14 promote psoriasis by inducing CARD14-BCL10-MALT1 complexes that activate NF-kappaB and MAP kinases. ...Furthermore, rapamycin ameliorated CARD14E138A-induced keratinocyte proliferation and epidermal acanthosis in mice, suggesting that blocki …
Rare mutations in CARD14 promote psoriasis by inducing CARD14-BCL10-MALT1 complexes that activate NF-kappaB and MAP kinases. . …
Pityriasis Rubra Pilaris: An Updated Review of Clinical Presentation, Etiopathogenesis, and Treatment Options.
Joshi TP, Duvic M. Joshi TP, et al. Am J Clin Dermatol. 2024 Mar;25(2):243-259. doi: 10.1007/s40257-023-00836-x. Epub 2023 Dec 30. Am J Clin Dermatol. 2024. PMID: 38159213 Review.
Caspase recruitment domain family, member 14 (CARD14)-associated papulosquamous eruption and facial discoid dermatitis are newly described disease states that have an important clinical overlap with PRP, creating shared conundrums with respect to diagnosis and treatment. T …
Caspase recruitment domain family, member 14 (CARD14)-associated papulosquamous eruption and facial discoid dermatitis are newly desc …
Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.
Blicharz L, Czuwara J, Rudnicka L, Torrelo A. Blicharz L, et al. Clin Rev Allergy Immunol. 2023 Dec;65(3):377-402. doi: 10.1007/s12016-023-08971-3. Epub 2023 Dec 16. Clin Rev Allergy Immunol. 2023. PMID: 38103162 Free PMC article. Review.
Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis with concomitant psoriasis vulgaris, palmoplantar pustulosis, type V pityriasis rubra pilaris), IL36RN (generalized pustular psoriasis with …
Originally, autoinflammatory keratinization diseases were attributed to pathogenic variants of CARD14 (generalized pustular psoriasis …
Gain-of-Function Mutation of Card14 Leads to Spontaneous Psoriasis-like Skin Inflammation through Enhanced Keratinocyte Response to IL-17A.
Wang M, Zhang S, Zheng G, Huang J, Songyang Z, Zhao X, Lin X. Wang M, et al. Immunity. 2018 Jul 17;49(1):66-79.e5. doi: 10.1016/j.immuni.2018.05.012. Epub 2018 Jul 3. Immunity. 2018. PMID: 29980436 Free article.
Genetic mutations of CARD14 (encoding CARMA2) are observed in psoriasis patients. Here we showed that Card14(E138A/+) and Card14(deltaQ136/+) mice developed spontaneous psoriasis-like skin inflammation, which resulted from constitutively activated C …
Genetic mutations of CARD14 (encoding CARMA2) are observed in psoriasis patients. Here we showed that Card14(E138A/+) a …
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB, Brusgaard K, Lei U, Sommerlund M, Vinding GR, Sleire SOK, Christensen AH, Fast SP, Bach R, Bygum A, Ousager LB. Gram SB, et al. JAMA Dermatol. 2025 Feb 1;161(2):157-166. doi: 10.1001/jamadermatol.2024.4824. JAMA Dermatol. 2025. PMID: 39630431 Free PMC article.
A genetic diagnosis was found in 63 of 76 families (83%), including 27 disease-causing variants within 13 different genes: AAGAB (n = 39), DSG1 (n = 8), KRT1 (n = 3), DSP (n = 2), KRT9 (n = 2), AQP5 (n = 2), KRT16 (n = 1), SERPINA12 (n = 1), ABCA12 (n = 1), COL7A1 (n = 1), CAR …
A genetic diagnosis was found in 63 of 76 families (83%), including 27 disease-causing variants within 13 different genes: AAGAB (n = 39), D …
The common CARD14 gene missense polymorphism rs11652075 (c.C2458T/p.Arg820Trp) is associated with psoriasis: a meta-analysis.
Shi G, Li SJ, Wang TT, Cheng CM, Fan YM, Zhu KJ. Shi G, et al. Genet Mol Res. 2016 Aug 19;15(3). doi: 10.4238/gmr.15038357. Genet Mol Res. 2016. PMID: 27706581 Free article.
Recent genetic evidence suggests a robust association of the CARD14 single nucleotide polymorphism rs11652075 (c.C2458T/p.Arg820Trp) and other rare mutations in this gene with psoriasis. ...Our results demonstrate a significant association between the CARD14 rs11652 …
Recent genetic evidence suggests a robust association of the CARD14 single nucleotide polymorphism rs11652075 (c.C2458T/p.Arg820Trp) …
Bioinformatic analysis of molecular characteristics and oncogenic features of CARD14 in human cancer.
Bespalov D, Pino D, Vidal-Guirao S, Franquesa J, Lopez-Ramajo D, Filgaira I, Wan L, O'Sullivan PA, Ley SC, Forcales SV, Rojas JJ, Izquierdo-Serra M, Soler C, Manils J. Bespalov D, et al. Sci Rep. 2024 Oct 3;14(1):22972. doi: 10.1038/s41598-024-74565-4. Sci Rep. 2024. PMID: 39362963 Free PMC article.
Aberrant caspase recruitment domain family member 14 (CARD14) signaling has been strongly associated with inflammatory skin conditions. CARD14 acts as a scaffold protein, ultimately activating the transcription factor NF-KB. ...We found heightened CARD14 expr …
Aberrant caspase recruitment domain family member 14 (CARD14) signaling has been strongly associated with inflammatory skin condition …
Psoriasis risk factors and triggers.
Lee EB, Wu KK, Lee MP, Bhutani T, Wu JJ. Lee EB, et al. Cutis. 2018 Nov;102(5S):18-20. Cutis. 2018. PMID: 30566552 Review.
Genetic risk factors include HLA-Cw6 and mutations in the caspase recruitment domain family member 14 gene, CARD14. Environmental risk factors, including infectious diseases, medications, and lifestyle, also have been implicated. ...
Genetic risk factors include HLA-Cw6 and mutations in the caspase recruitment domain family member 14 gene, CARD14. Environmental ris …
97 results