CARD9-Gen
Das CARD9-Gen Kodiert eine Protein mit einer CARD-Domäne (caspase-associated recruitment domain). Diese zeichnet das Protein aus insbesondere bei der Apoptose und in der angeborenen Immunität eine Rolle zu spielen. Mutationen sind für autosomal rezessive Cadidose 2 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Gross O et al. (2006) Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity.
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2. |
Glocker EO et al. (2009) A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
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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. |
Boudghène-Stambouli O et al. (1998) [Dermatophytic disease: exuberant hyperkeratosis with cutaneous horns].
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5. |
Bertin J et al. (2000) CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10/CLAP and activates NF-kappa B.
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6. |
Hsu YM et al. (2007) The adaptor protein CARD9 is required for innate immune responses to intracellular pathogens.
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7. |
Yang H et al. (2007) pVHL acts as an adaptor to promote the inhibitory phosphorylation of the NF-kappaB agonist Card9 by CK2.
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8. |
Drewniak A et al. (2013) Invasive fungal infection and impaired neutrophil killing in human CARD9 deficiency.
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9. |
Lanternier F et al. (2013) Deep dermatophytosis and inherited CARD9 deficiency.
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10. |
Cao Z et al. (2015) Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation.
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Update: 14. August 2020