Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

NOD-Rezeptor C2

Das NPD2-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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Familiäres Mittelmeerfieber
MEFV
NOD2
SAA1
TNFRSF1A

Referenzen:

1.

Ogura Y et al. (2001) Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB.

[^]
2.

Hugot JP et al. (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.

[^]
3.

Ogura Y et al. (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.

[^]
4.

Hampe J et al. (2001) Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.

[^]
5.

Miceli-Richard C et al. (2001) CARD15 mutations in Blau syndrome.

[^]
6.

Lesage S et al. (2002) CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease.

[^]
7.

Murillo L et al. (2002) CARD15 gene and the classification of Crohn's disease.

[^]
8.

Vermeire S et al. (2002) CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.

[^]
9.

Hampe J et al. (2002) Association of NOD2 (CARD 15) genotype with clinical course of Crohn's disease: a cohort study.

[^]
10.

Gladman DD et al. (2002) Current concepts in psoriatic arthritis.

[^]
11.

Yamazaki K et al. (2002) Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn's disease.

[^]
12.

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.

[^]
13.

Karason A et al. (2003) A susceptibility gene for psoriatic arthritis maps to chromosome 16q: evidence for imprinting.

[^]
14.

Croucher PJ et al. (2003) Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations.

[^]
15.

Sugimura K et al. (2003) A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews.

[^]
16.

Chamaillard M et al. (2003) Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases.

[^]
17.

Ogura Y et al. (2003) Genetic variation and activity of mouse Nod2, a susceptibility gene for Crohn's disease.

[^]
18.

Rahman P et al. (2003) CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis.

[^]
19.

Fidder HH et al. (2003) Association between mutations in the CARD15 (NOD2) gene and Crohn's disease in Israeli Jewish patients.

[^]
20.

van Heel DA et al. (2003) The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants.

[^]
21.

Pauleau AL et al. (2003) Role of nod2 in the response of macrophages to toll-like receptor agonists.

[^]
22.

Giachino D et al. (2004) Analysis of the CARD15 variants R702W, G908R and L1007fs in Italian IBD patients.

[^]
23.

Tukel T et al. (2004) Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.

[^]
24.

Kanazawa N et al. (2004) Presence of a sporadic case of systemic granulomatosis syndrome with a CARD15 mutation.

[^]
25.

Stoll M et al. (2004) Genetic variation in DLG5 is associated with inflammatory bowel disease.

[^]
26.

Li J et al. (2004) Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.

[^]
27.

Watanabe T et al. (2004) NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses.

[^]
28.

Kanazawa N et al. (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

[^]
29.

Kobayashi KS et al. (2005) Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract.

[^]
30.

Maeda S et al. (2005) Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing.

[^]
31.

van Duist MM et al. (2005) A new CARD15 mutation in Blau syndrome.

[^]
32.

van Heel DA et al. () Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease.

[^]
33.

Buhner S et al. (2006) Genetic basis for increased intestinal permeability in families with Crohn's disease: role of CARD15 3020insC mutation?

[^]
34.

Netea MG et al. (2005) The frameshift mutation in Nod2 results in unresponsiveness not only to Nod2- but also Nod1-activating peptidoglycan agonists.

[^]
35.

King K et al. (2006) Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15.

[^]
36.

Medici V et al. (2006) Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations.

[^]
37.

et al. (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

[^]
38.

Goyal M et al. (2007) Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations.

[^]
39.

King K et al. (2007) Identification, evolution, and association study of a novel promoter and first exon of the human NOD2 (CARD15) gene.

[^]
40.

Dhondt V et al. () Leg ulcers: a new symptom of Blau syndrome?

[^]
41.

Divangahi M et al. (2008) NOD2-deficient mice have impaired resistance to Mycobacterium tuberculosis infection through defective innate and adaptive immunity.

[^]
42.

Hruz P et al. (2009) NOD2 contributes to cutaneous defense against Staphylococcus aureus through alpha-toxin-dependent innate immune activation.

[^]
43.

Cooney R et al. (2010) NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation.

[^]
44.

Geddes K et al. (2011) Identification of an innate T helper type 17 response to intestinal bacterial pathogens.

[^]
45.

Rivas MA et al. (2011) Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

[^]
46.

MacArthur DG et al. (2012) A systematic survey of loss-of-function variants in human protein-coding genes.

[^]
47.

Lee FI et al. (1990) Increased occurrence of psoriasis in patients with Crohn's disease and their relatives.

[^]
48.

Brain O et al. (2013) The intracellular sensor NOD2 induces microRNA-29 expression in human dendritic cells to limit IL-23 release.

[^]
49.

Nakamura N et al. (2014) Endosomes are specialized platforms for bacterial sensing and NOD2 signalling.

[^]
50.

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.

[^]

 

 
Ihre Nachricht: