Caspase recruitment domain-containing protein 14
The CARD14 gene encodes a protein that is involved in regulation of signal transduction and apoptosis. Mutations cause autosomal dominant pityriasis rubra pilaris and psoriasis 2.
Genetests:
Related Diseases:
References:
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Krber A et. al. (2013) Mutations in IL36RN in patients with generalized pustular psoriasis.
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Tomfohrde J et. al. (1994) Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.
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Bertin J et al. (2001) CARD11 and CARD14 are novel caspase recruitment domain (CARD)/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B.
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Gaide O et al. (2001) Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation.
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Hwu WL et. al. (2005) Mapping of psoriasis to 17q terminus.
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Yang CF et al. (2008) A promoter sequence variant of ZNF750 is linked with familial psoriasis.
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Jordan CT et. al. (2012) PSORS2 is due to mutations in CARD14.
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Jordan CT et al. (2012) Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.
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Fuchs-Telem D et. al. (2012) Familial pityriasis rubra pilaris is caused by mutations in CARD14.
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Wang M et al. (2018) Gain-of-Function Mutation of Card14 Leads to Spontaneous Psoriasis-like Skin Inflammation through Enhanced Keratinocyte Response to IL-17A.
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Update: Aug. 14, 2020