PMID 31036433 2019 Shared and distinct genetic risk factors for childhood-onset and adult-onset asthma: genome-wide and transcriptome-wide studies.
rs2066844 in
NOD2 gene and
Crohn Disease
PMID 17684544 2007 Systematic association mapping identifies NELL1 as a novel IBD disease gene.
PMID 16485124 2006 We performed a limited DNA sequence analysis of the CARD15 gene in 89 patients with Crohn's disease (CD), 19 patients with ulcerative colitis (UC), and three patients with indeterminate colitis (IC), who were heterozygous carriers of one of the common CARD15 mutations [c.2104C>T (p.R702W), c.2722G>C (p.G908R), or c.3019_3020insC (p.Leu1007fsX1008)], the c.2462+10A>C variant, or of a new amino acid substitution in the 3'-end of exon 4.
PMID 11385576 2001 Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
PMID 15024686 2004 Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
PMID 17804789 2007 Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.
PMID 24790089 2014 The molecular chaperone HSP70 binds to and stabilizes NOD2, an important protein involved in Crohn disease.
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
PMID 27812135 2016 Additionally, we show that the interaction of 8 NIPs is compromised with the 3 main CD associated NOD2 mutants (R702W, G908R and 1007fs).
PMID 24960071 2014 Interaction between NOD2 and CARD9 involves the NOD2 NACHT and the linker region between the NOD2 CARDs and NACHT domain.
rs2066844 in
NOD2 gene and
Inflammatory Bowel Diseases
PMID 28067908 2017 Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease.
rs2066844 in
NOD2 gene and
Oral Ulcer
PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.
rs2066844 in
NOD2 gene and
Regional enteritis
PMID 15024686 2004 Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
PMID 18240302 2008 Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria.
PMID 11385576 2001 Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
PMID 12512038 2003 Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan.
PMID 22684479 2013 The intermediate filament protein, vimentin, is a regulator of NOD2 activity.
PMID 15571588 2004 Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.
PMID 15770725 2005 Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease: phenotype-genotype correlations.
PMID 15198989 2004 Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.
PMID 19713276 2009 Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis.
PMID 18489434 2008 Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs.
PMID 11385576 2001 Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.
PMID 19713276 2009 Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis.
PMID 15024686 2004 Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families.
PMID 22684479 2013 The intermediate filament protein, vimentin, is a regulator of NOD2 activity.
PMID 15198989 2004 Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations.
PMID 15571588 2004 Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis.
PMID 21548950 2011 Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.
PMID 18489434 2008 Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs.
PMID 18240302 2008 Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria.
PMID 12512038 2003 Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan.
rs2066844 in
NOD2 gene and
Yao syndrome
PMID 26070941 2015 NOD2-associated autoinflammatory disease: a large cohort study.
PMID 21914217 2011 A new category of autoinflammatory disease associated with NOD2 gene mutations.