MyD88-Gen
Das MyD88-Gen kodiert eine Adapter-Protein für viele Toll-like-Rezeptoren und ist somit in der Signaltransduktion von diesen Rezeptoren und vom Interleukin 1-Rezeptor involviert. Genomische Mutationen sind für den autosomal rezessiven Immundefekt 68 verantwortlich, während somatische Mutationen bei Waldenström-Makroglobulinämie gefunden werden.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Conway DH et al. (2010) Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred.
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2. |
Gavin AL et al. (2006) Adjuvant-enhanced antibody responses in the absence of toll-like receptor signaling.
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3. |
Brown SL et al. (2007) Myd88-dependent positioning of Ptgs2-expressing stromal cells maintains colonic epithelial proliferation during injury.
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4. |
Chen CJ et al. (2007) Identification of a key pathway required for the sterile inflammatory response triggered by dying cells.
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5. |
Rakoff-Nahoum S et al. (2007) Regulation of spontaneous intestinal tumorigenesis through the adaptor protein MyD88.
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6. |
LaRosa DF et al. (2008) T cell expression of MyD88 is required for resistance to Toxoplasma gondii.
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7. |
Cirl C et al. (2008) Subversion of Toll-like receptor signaling by a unique family of bacterial Toll/interleukin-1 receptor domain-containing proteins.
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8. |
von Bernuth H et al. (2008) Pyogenic bacterial infections in humans with MyD88 deficiency.
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9. |
Wen L et al. (2008) Innate immunity and intestinal microbiota in the development of Type 1 diabetes.
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10. |
Lin SC et al. (2010) Helical assembly in the MyD88-IRAK4-IRAK2 complex in TLR/IL-1R signalling.
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11. |
Kagan JC et al. (2006) Phosphoinositide-mediated adaptor recruitment controls Toll-like receptor signaling.
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12. |
Picard C et al. (2010) Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
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13. |
Ngo VN et al. (2011) Oncogenically active MYD88 mutations in human lymphoma.
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14. |
Tarallo V et al. (2012) DICER1 loss and Alu RNA induce age-related macular degeneration via the NLRP3 inflammasome and MyD88.
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15. |
Treon SP et al. (2012) MYD88 L265P somatic mutation in Waldenström's macroglobulinemia.
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16. |
Zhu W et al. (2012) Interleukin receptor activates a MYD88-ARNO-ARF6 cascade to disrupt vascular stability.
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17. |
Landgren O et al. (2012) MYD88 L265P somatic mutation in IgM MGUS.
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18. |
Zhang D et al. (2015) Neutrophil ageing is regulated by the microbiome.
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19. |
Phelan JD et al. (2018) A multiprotein supercomplex controlling oncogenic signalling in lymphoma.
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20. |
Platt CD et al. (2019) A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation.
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21. |
Takeuchi O et al. (2000) Cutting edge: TLR2-deficient and MyD88-deficient mice are highly susceptible to Staphylococcus aureus infection.
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22. |
Zhande R et al. (2007) FADD negatively regulates lipopolysaccharide signaling by impairing interleukin-1 receptor-associated kinase 1-MyD88 interaction.
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23. |
Diebold SS et al. (2004) Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA.
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24. |
Lord KA et al. (1990) Complexity of the immediate early response of myeloid cells to terminal differentiation and growth arrest includes ICAM-1, Jun-B and histone variants.
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25. |
Bonnert TP et al. (1997) The cloning and characterization of human MyD88: a member of an IL-1 receptor related family.
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26. |
Hardiman G et al. (1997) Genetic structure and chromosomal mapping of MyD88.
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27. |
Muzio M et al. (1997) IRAK (Pelle) family member IRAK-2 and MyD88 as proximal mediators of IL-1 signaling.
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28. |
Adachi O et al. (1998) Targeted disruption of the MyD88 gene results in loss of IL-1- and IL-18-mediated function.
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29. |
Medzhitov R et al. (1998) MyD88 is an adaptor protein in the hToll/IL-1 receptor family signaling pathways.
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30. |
Kawai T et al. (1999) Unresponsiveness of MyD88-deficient mice to endotoxin.
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31. |
Pasare C et al. (2005) Control of B-cell responses by Toll-like receptors.
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32. |
Hayashi F et al. (2001) The innate immune response to bacterial flagellin is mediated by Toll-like receptor 5.
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33. |
Jankovic D et al. (2002) In the absence of IL-12, CD4(+) T cell responses to intracellular pathogens fail to default to a Th2 pattern and are host protective in an IL-10(-/-) setting.
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34. |
Burns K et al. (2003) Inhibition of interleukin 1 receptor/Toll-like receptor signaling through the alternatively spliced, short form of MyD88 is due to its failure to recruit IRAK-4.
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35. |
Bellocchio S et al. (2004) The contribution of the Toll-like/IL-1 receptor superfamily to innate and adaptive immunity to fungal pathogens in vivo.
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36. |
Skerrett SJ et al. (2004) Cutting edge: myeloid differentiation factor 88 is essential for pulmonary host defense against Pseudomonas aeruginosa but not Staphylococcus aureus.
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37. |
Björkbacka H et al. (2004) Reduced atherosclerosis in MyD88-null mice links elevated serum cholesterol levels to activation of innate immunity signaling pathways.
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38. |
Blander JM et al. (2004) Regulation of phagosome maturation by signals from toll-like receptors.
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39. |
Fremond CM et al. (2004) Fatal Mycobacterium tuberculosis infection despite adaptive immune response in the absence of MyD88.
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40. |
Jiang D et al. (2005) Regulation of lung injury and repair by Toll-like receptors and hyaluronan.
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Update: 3. November 2022