Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Toll/Interleukin-1-Rezeptor-Domäne-enthaltendes Adapter-Protein

Das TIRAP-Gen kodiert einen Rezeptor, der verschiedene Pathogene identifizieren kann. Genetische Varianten führen zu einer Immunschwäche insbesondere gegenüber Pneumokokken.

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:

Suszeptibilität für Bakteriämie 1
TIRAP
Invasive Pneumokokken-Erkrankung 3
TIRAP
Suszeptibilität für Mykobakteriosen
TIRAP
X-chromosomale Suszeptibilität für Mykobakteriosen durch IKBKG-Defekt
IKBKG

Referenzen:

1.

Horng T et al. (2001) TIRAP: an adapter molecule in the Toll signaling pathway.

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2.

Fitzgerald KA et al. (2001) Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction.

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3.

Bannerman DD et al. (2002) TIRAP mediates endotoxin-induced NF-kappaB activation and apoptosis in endothelial cells.

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4.

Yamamoto M et al. (2002) Essential role for TIRAP in activation of the signalling cascade shared by TLR2 and TLR4.

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5.

Horng T et al. (2002) The adaptor molecule TIRAP provides signalling specificity for Toll-like receptors.

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6.

Kagan JC et al. (2006) Phosphoinositide-mediated adaptor recruitment controls Toll-like receptor signaling.

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7.

Hawn TR et al. (2006) A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis.

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8.

Khor CC et al. (2007) A Mal functional variant is associated with protection against invasive pneumococcal disease, bacteremia, malaria and tuberculosis.

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9.

Miggin SM et al. (2007) NF-kappaB activation by the Toll-IL-1 receptor domain protein MyD88 adapter-like is regulated by caspase-1.

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10.

Nejentsev S et al. (2008) Analysis of association of the TIRAP (MAL) S180L variant and tuberculosis in three populations.

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11.

George J et al. (2010) MyD88 adaptor-like D96N is a naturally occurring loss-of-function variant of TIRAP.

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12.

Dowling JK et al. (2019) The Single Nucleotide Polymorphism Mal-D96N Mice Provide New Insights into Functionality of Mal in TLR Immune Responses.

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Update: 17. Oktober 2019