Varaico: Literature-Extracted Genetic Variants

Gene:CARD14
Variant:p.L124P
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CARD14

NM_001366385.1:p.L124P

Associated Papers

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

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

Successful Treatment of Pityriasis Rubra Pilaris with Risankizumab in Children.

Kołt-Kamińska M et al.

Dermatology and Therapy, 2023

Association of CARD14 Single-Nucleotide Polymorphisms with Psoriasis.

Suleman S et al.

International Journal of Molecular Sciences, 2022

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

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

Inoue N et al.

The Journal of Dermatology, 2016

Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14.

Eytan O et al.

The British Journal of Dermatology, 2014

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