Condition: Regional enteritis


rs139868987 in HSPA1L gene and Regional enteritis PMID 28126021 2017 De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease.

rs104895462 in NOD2 gene and Regional enteritis PMID 17157607 2006 Blau syndrome associated with a CARD15/NOD2 mutation.

PMID 14522785 2003 Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation.

PMID 11528384 2001 CARD15 mutations in Blau syndrome.

PMID 22509093 2012 NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome.

PMID 15044951 2004 Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition.

PMID 15459013 2005 Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.

PMID 24713464 2014 Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome.

PMID 25416713 2015 Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes.

PMID 21983784 2011 Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.

PMID 25829188 2015 Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome.

PMID 25136265 2014 Blau syndrome, the prototypic auto-inflammatory granulomatous disease.

PMID 25093298 2014 Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.

PMID 19479836 2009 Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree.

PMID 27339507 2016 A Case of Blau Syndrome with NOD2 E383K Mutation.

PMID 20565245 2010 Familial case of Blau syndrome associated with a CARD15/NOD2 mutation.

PMID 18718560 2009 Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review.

PMID 15812565 2005 A new CARD15 mutation in Blau syndrome.

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 21274544 2011 NOD2 exonic variations in Iranian Crohn's disease patients.

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 21548950 2011 Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study.

PMID 15190267 2004 NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

PMID 21335489 2011 Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC.

PMID 11910337 2002 The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease.

PMID 11425413 2001 Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations.

PMID 12019468 2002 CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure.

PMID 11385577 2001 A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease.

PMID 26500656 2015 Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association.