Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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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:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14

References:

1.

Krber A et. al. (2013) Mutations in IL36RN in patients with generalized pustular psoriasis.

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2.

Tomfohrde J et. al. (1994) Gene for familial psoriasis susceptibility mapped to the distal end of human chromosome 17q.

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3.

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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4.

Gaide O et al. (2001) Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation.

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5.

Hwu WL et. al. (2005) Mapping of psoriasis to 17q terminus.

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6.

Yang CF et al. (2008) A promoter sequence variant of ZNF750 is linked with familial psoriasis.

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7.

Jordan CT et. al. (2012) PSORS2 is due to mutations in CARD14.

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8.

Jordan CT et al. (2012) Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis.

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9.

Fuchs-Telem D et. al. (2012) Familial pityriasis rubra pilaris is caused by mutations in CARD14.

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10.

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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11.
Update: Aug. 14, 2020
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