C-Typ Lectin-Domän-Protein Familie 7 Member A
Das CLEC7A-Gen kodiert eine C-Typ Lectin-Protein, welches auch als Dectin-1 bekannt ist und und beta-Glucan bindet, welches Bestandteil vieler pathogener Pilze ist. Es ist damit ein wichtiger Pathogen-Pattern-Rezeptor der angeborenen Immunität. Entsprechend führt ein Mangel dieses Enzyms zu schweren Pilzinfektionen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Xie J et al. (2006) Human Dectin-1 isoform E is a cytoplasmic protein and interacts with RanBPM.
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2. |
Lefèvre L et al. (2013) The C-type lectin receptors dectin-1, MR, and SIGNR3 contribute both positively and negatively to the macrophage response to Leishmania infantum.
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3. |
Iliev ID et al. (2012) Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis.
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4. |
Gringhuis SI et al. (2012) Dectin-1 is an extracellular pathogen sensor for the induction and processing of IL-1β via a noncanonical caspase-8 inflammasome.
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5. |
Lee HM et al. (2012) Mycobacterium abscessus activates the NLRP3 inflammasome via Dectin-1-Syk and p62/SQSTM1.
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6. |
Goodridge HS et al. (2011) Activation of the innate immune receptor Dectin-1 upon formation of a 'phagocytic synapse'.
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7. |
Cunha C et al. (2010) Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity.
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8. |
Maródi L et al. (2010) Dectin-1 deficiency and mucocutaneous fungal infections.
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9. |
Ferwerda B et al. (2009) Human dectin-1 deficiency and mucocutaneous fungal infections.
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10. |
Glocker EO et al. (2009) A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
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11. |
Taylor PR et al. (2007) Dectin-1 is required for beta-glucan recognition and control of fungal infection.
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12. |
Saijo S et al. (2007) Dectin-1 is required for host defense against Pneumocystis carinii but not against Candida albicans.
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13. |
Ku CL et al. (2007) IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease.
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14. |
Gross O et al. (2006) Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity.
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15. |
Brown GD et al. (2003) Dectin-1 mediates the biological effects of beta-glucans.
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16. |
Willment JA et al. (2001) Characterization of the human beta -glucan receptor and its alternatively spliced isoforms.
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17. |
Brown GD et al. (2001) Immune recognition. A new receptor for beta-glucans.
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18. |
Hermanz-Falcón P et al. () Cloning of human DECTIN-1, a novel C-type lectin-like receptor gene expressed on dendritic cells.
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19. |
Yokota K et al. (2001) Identification of a human homologue of the dendritic cell-associated C-type lectin-1, dectin-1.
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20. |
Ariizumi K et al. (2000) Identification of a novel, dendritic cell-associated molecule, dectin-1, by subtractive cDNA cloning.
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21. |
Hise AG et al. (2009) An essential role for the NLRP3 inflammasome in host defense against the human fungal pathogen Candida albicans.
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22. |
Manicassamy S et al. (2009) Toll-like receptor 2-dependent induction of vitamin A-metabolizing enzymes in dendritic cells promotes T regulatory responses and inhibits autoimmunity.
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23. |
von Bernuth H et al. (2008) Pyogenic bacterial infections in humans with MyD88 deficiency.
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Update: 14. August 2020