Caspase-recruitment-Domain-enthaltendes Protein 14
Das CARD14-Gen kodiert ein Protein das mit verschiedenen Proteinen bei der Signaltransduktion und der Steuerung der Apoptose interagiert. Mutationen führen zu den autosomal dominanten Erkrankungen Pityriasis rubra pilaris und Psoriasis 2.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020