Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

CARD9

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Familiäre Candidose 2
CARD9

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
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