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 |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Kagan JC et al. (2006) Phosphoinositide-mediated adaptor recruitment controls Toll-like receptor signaling.
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2. |
Horng T et al. (2001) TIRAP: an adapter molecule in the Toll signaling pathway.
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3. |
Fitzgerald KA et al. (2001) Mal (MyD88-adapter-like) is required for Toll-like receptor-4 signal transduction.
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4. |
Bannerman DD et al. (2002) TIRAP mediates endotoxin-induced NF-kappaB activation and apoptosis in endothelial cells.
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5. |
Yamamoto M et al. (2002) Essential role for TIRAP in activation of the signalling cascade shared by TLR2 and TLR4.
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6. |
Horng T et al. (2002) The adaptor molecule TIRAP provides signalling specificity for Toll-like receptors.
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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: 14. August 2020