NOD-Rezeptor C2
Das NOD2-Gen ist bei der Regulation Immunantwort von Leukozyten beteiligt. Mutationen sind für das autosomal dominante Blau-Syndrom verantwortlich. Weiterhin sind verschiedene genetische Variationen in diesem Gen mit entzündlichen Erkrankungen wie Morbus Crohn, Sarkoidose und Mittelmeerfiber assoziiert.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
King K et al. (2007) Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.
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2. |
Li J et al. (2004) Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.
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3. |
Watanabe T et al. (2004) NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses.
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4. |
Kanazawa N et al. (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
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5. |
Kobayashi KS et al. (2005) Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract.
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6. |
Maeda S et al. (2005) Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing.
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7. |
van Duist MM et al. (2005) A new CARD15 mutation in Blau syndrome.
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8. |
van Heel DA et al. () Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease.
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9. |
Buhner S et al. (2006) Genetic basis for increased intestinal permeability in families with Crohn's disease: role of CARD15 3020insC mutation?
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10. |
Netea MG et al. (2005) The frameshift mutation in Nod2 results in unresponsiveness not only to Nod2- but also Nod1-activating peptidoglycan agonists.
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11. |
King K et al. (2006) Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.
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12. |
Medici V et al. (2006) Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations.
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13. |
Goyal M et al. (2007) Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.
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14. |
Ogura Y et al. (2001) Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB.
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15. |
Dhondt V et al. () Leg ulcers: a new symptom of Blau syndrome?
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16. |
Divangahi M et al. (2008) NOD2-deficient mice have impaired resistance to Mycobacterium tuberculosis infection through defective innate and adaptive immunity.
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17. |
Hruz P et al. (2009) NOD2 contributes to cutaneous defense against Staphylococcus aureus through alpha-toxin-dependent innate immune activation.
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18. |
Cooney R et al. (2010) NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation.
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19. |
Geddes K et al. (2011) Identification of an innate T helper type 17 response to intestinal bacterial pathogens.
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20. |
Rivas MA et al. (2011) Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
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21. |
MacArthur DG et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes.
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22. |
Lee FI et al. (1990) Increased occurrence of psoriasis in patients with Crohn's disease and their relatives.
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23. |
Brain O et al. (2013) The intracellular sensor NOD2 induces microRNA-29 expression in human dendritic cells to limit IL-23 release.
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24. |
Nakamura N et al. (2014) Endosomes are specialized platforms for bacterial sensing and NOD2 signalling.
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25. |
Nair RP et al. (1997) Evidence for two psoriasis susceptibility loci (HLA and 17q) and two novel candidate regions (16q and 20p) by genome-wide scan.
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26. |
Kanazawa N et al. (2004) Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation.
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27. |
None (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
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28. |
Hugot JP et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
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29. |
Ogura Y et al. (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.
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30. |
Hampe J et al. (2001) Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.
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31. |
Miceli-Richard C et al. (2001) CARD15 mutations in Blau syndrome.
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32. |
Lesage S et al. (2002) CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.
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33. |
Murillo L et al. (2002) CARD15 gene and the classification of Crohn's disease.
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34. |
Vermeire S et al. (2002) CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.
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35. |
Hampe J et al. (2002) Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study.
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36. |
None (2002) Current concepts in psoriatic arthritis.
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37. |
Yamazaki K et al. (2002) Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease.
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38. |
van Heel DA et al. (2002) Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics.
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39. |
Karason A et al. (2003) A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.
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40. |
Croucher PJ et al. (2003) Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.
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41. |
Sugimura K et al. (2003) A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews.
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42. |
Chamaillard M et al. (2003) Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases.
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43. |
Ogura Y et al. (2003) Genetic variation and activity of mouse Nod2, a susceptibility gene for Crohn's disease.
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44. |
Rahman P et al. (2003) CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis.
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45. |
Fidder HH et al. (2003) Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients.
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46. |
van Heel DA et al. (2003) The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.
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47. |
Pauleau AL et al. (2003) Role of nod2 in the response of macrophages to toll-like receptor agonists.
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48. |
Giachino D et al. (2004) Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.
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49. |
Tukel T et al. (2004) Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
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50. |
Stoll M et al. (2004) Genetic variation in DLG5 is associated with inflammatory bowel disease.
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51. |
NCBI article
NCBI 64127
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52. |
OMIM.ORG article
Omim 605956
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53. |
Orphanet article
Orphanet ID 123845
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Update: 14. August 2020