NOD2-associated disease

Kühn R et al. (1993) Interleukin-10-deficient mice develop chronic enterocolitis.

Farmer MA et al. (2001) A major quantitative trait locus on chromosome 3 controls colitis severity in IL-10-deficient mice.

Singh UP et al. (2003) Inhibition of IFN-gamma-inducible protein-10 abrogates colitis in IL-10-/- mice.

Asano K et al. (2009) A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population.

Sawczenko A et al. (2005) Intestinal inflammation-induced growth retardation acts through IL-6 in rats and depends on the -174 IL-6 G/C polymorphism in children.

Moehle C et al. (2006) Aberrant intestinal expression and allelic variants of mucin genes associated with inflammatory bowel disease.

Nenci A et al. (2007) Epithelial NEMO links innate immunity to chronic intestinal inflammation.

Ricciardelli I et al. (2008) Anti tumour necrosis-alpha therapy increases the number of FOXP3 regulatory T cells in children affected by Crohn's disease.

Lovato P et al. (2003) Constitutive STAT3 activation in intestinal T cells from patients with Crohn's disease.

Pang YH et al. (2007) Increased expression and activation of IL-12-induced Stat4 signaling in the mucosa of ulcerative colitis patients.

None (2007) Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.

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

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

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

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

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

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

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

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

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

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

Iliev ID et al. (2012) Interactions between commensal fungi and the C-type lectin receptor Dectin-1 influence colitis.

Villani AC et al. (2009) Common variants in the NLRP3 region contribute to Crohn's disease susceptibility.

Wang R et al. (2020) Gut stem cell necroptosis by genome instability triggers bowel inflammation.

Cao Z et al. (2015) Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation.

Pastores GM et al. (1990) Autosomal dominant granulomatous arthritis, uveitis, skin rash, and synovial cysts.

Jabs DA et al. (1985) Familial granulomatous synovitis, uveitis, and cranial neuropathies.

None (1985) Familial granulomatous arthritis, iritis, and rash.

Rotenstein D et al. (1982) Familial granulomatous arteritis with polyarthritis of juvenile onset.

Ukae S et al. (1994) Preschool sarcoidosis manifesting as juvenile rheumatoid arthritis: a case report and a review of the literature of Japanese cases.

Raphael SA et al. (1993) Analysis of a large kindred with Blau syndrome for HLA, autoimmunity, and sarcoidosis.

Saini SK et al. (1996) Liver involvement in familial granulomatous arthritis (Blau syndrome).

Tromp G et al. (1996) Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16.

Sakurai Y et al. (1997) Preschool sarcoidosis mimicking juvenile rheumatoid arthritis: the significance of gallium scintigraphy and skin biopsy in the differential diagnosis.

Manouvrier-Hanu S et al. (1998) Blau syndrome of granulomatous arthritis, iritis, and skin rash: a new family and review of the literature.

Shetty AK et al. (1998) Sarcoidosis: a pediatric perspective.

Latkany PA et al. (2002) Multifocal choroiditis in patients with familial juvenile systemic granulomatosis.

Alonso D et al. (2003) Blau syndrome: a new kindred.

Borzutzky A et al. (2010) NOD2-associated diseases: Bridging innate immunity and autoinflammation.

Lewkonia RM et al. (1976) Progress report. Familial inflammatory bowel disease--heredity or environment?

Orholm M et al. (1991) Familial occurrence of inflammatory bowel disease.

Monsén U et al. (1989) Evidence for a major additive gene in ulcerative colitis.

Küster W et al. (1989) The genetics of Crohn disease: complex segregation analysis of a family study with 265 patients with Crohn disease and 5,387 relatives.

Greenstein AJ et al. (1988) Perforating and non-perforating indications for repeated operations in Crohn's disease: evidence for two clinical forms.

Sheehan RG et al. (1967) Regional enteritis and granulomatous colitis associated with erythrocyte glucose-6-phosphate dehydrogenase deficiency.

Grönhagen-Riska C et al. (1983) Familial occurrence of sarcoidosis and Crohn's disease.

Farmer RG et al. (1980) Studies of family history among patients with inflammatory bowel disease.

Schwartz SE et al. (1980) Regional enteritis: evidence for genetic transmission by HLA typing.

Targan SR et al. (1995) Clarifying the causes of Crohn's.

Hermiston ML et al. (1995) Inflammatory bowel disease and adenomas in mice expressing a dominant negative N-cadherin.

Hugot JP et al. (1994) Linkage analyses of chromosome 6 loci, including HLA, in familial aggregations of Crohn disease. G.E.T.A.I.D.

Gilberts EC et al. (1994) Molecular evidence for two forms of Crohn disease.

Yang H et al. (1993) Familial empirical risks for inflammatory bowel disease: differences between Jews and non-Jews.

None (1996) Complex traits on the map.

Hugot JP et al. (1996) Mapping of a susceptibility locus for Crohn's disease on chromosome 16.

Satsangi J et al. (1996) Clinical patterns of familial inflammatory bowel disease.

Neurath MF et al. (1996) Local administration of antisense phosphorothioate oligonucleotides to the p65 subunit of NF-kappa B abrogates established experimental colitis in mice.

Mishina D et al. (1996) On the etiology of Crohn disease.

Satsangi J et al. (1996) Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12.

Ohmen JD et al. (1996) Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis.

Parkes M et al. (1996) Susceptibility loci in inflammatory bowel disease.

Haapamäki MM et al. (1997) Gene expression of group II phospholipase A2 in intestine in ulcerative colitis.

Cho JH et al. (1998) Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epistasis between 1p and IBD1.

Cavanaugh JA et al. (1998) Analysis of Australian Crohn's disease pedigrees refines the localization for susceptibility to inflammatory bowel disease on chromosome 16.

Hampe J et al. (1999) A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort.

Pizarro TT et al. (1999) IL-18, a novel immunoregulatory cytokine, is up-regulated in Crohn's disease: expression and localization in intestinal mucosal cells.

Annese V et al. (1999) Genetic analysis in Italian families with inflammatory bowel disease supports linkage to the IBD1 locus--a GISC study.

Cattan D et al. (2000) Inflammatory bowel disease in non-Ashkenazi Jews with familial Mediterranean fever.

Rioux JD et al. (2000) Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci.

Forabosco P et al. (2000) Combined segregation and linkage analysis of inflammatory bowel disease in the IBD1 region using severity to characterise Crohn's disease and ulcerative colitis. On behalf of the GISC.

Lawrance IC et al. (2001) Ulcerative colitis and Crohn's disease: distinctive gene expression profiles and novel susceptibility candidate genes.

Mwantembe O et al. (2001) Ethnic differences in allelic associations of the interleukin-1 gene cluster in South African patients with inflammatory bowel disease (IBD) and in control individuals.

Cavanaugh J et al. (2001) International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16.

Dechairo B et al. (2001) Replication and extension studies of inflammatory bowel disease susceptibility regions confirm linkage to chromosome 6p (IBD3).

None () ////

Zouali H et al. (2001) Genetic refinement and physical mapping of a chromosome 16q candidate region for inflammatory bowel disease.

Corbaz A et al. (2002) IL-18-binding protein expression by endothelial cells and macrophages is up-regulated during active Crohn's disease.

Miller DH et al. (2003) A controlled trial of natalizumab for relapsing multiple sclerosis.

Ghosh S et al. (2003) Natalizumab for active Crohn's disease.

von Andrian UH et al. (2003) Alpha4 integrins as therapeutic targets in autoimmune disease.

Karban AS et al. (2004) Functional annotation of a novel NFKB1 promoter polymorphism that increases risk for ulcerative colitis.

Hofseth LJ et al. (2003) The adaptive imbalance in base excision-repair enzymes generates microsatellite instability in chronic inflammation.

van Heel DA et al. (2004) Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs.

Fuss IJ et al. (2004) Nonclassical CD1d-restricted NK T cells that produce IL-13 characterize an atypical Th2 response in ulcerative colitis.

Lo SH et al. (2004) A demonstration and findings of a statistical approach through reanalysis of inflammatory bowel disease data.

Barnich N et al. (2005) GRIM-19 interacts with nucleotide oligomerization domain 2 and serves as downstream effector of anti-bacterial function in intestinal epithelial cells.

McGovern DP et al. (2005) Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease.

Oliver J et al. (2005) A functional polymorphism of the NFKB1 promoter is not associated with ulcerative colitis in a Spanish population.

Mirza MM et al. (2005) No association of the NFKB1 promoter polymorphism with ulcerative colitis in a British case control cohort.

Borm ME et al. (2005) A NFKB1 promoter polymorphism is involved in susceptibility to ulcerative colitis.

Gonzalez-Rey E et al. (2006) Cortistatin, an antiinflammatory peptide with therapeutic action in inflammatory bowel disease.

Gaya DR et al. (2006) New genes in inflammatory bowel disease: lessons for complex diseases?

Yen D et al. (2006) IL-23 is essential for T cell-mediated colitis and promotes inflammation via IL-17 and IL-6.

Fellermann K et al. (2006) A chromosome 8 gene-cluster polymorphism with low human beta-defensin 2 gene copy number predisposes to Crohn disease of the colon.

Kullberg MC et al. (2006) IL-23 plays a key role in Helicobacter hepaticus-induced T cell-dependent colitis.

Rioux JD et al. (2007) Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.

Libioulle C et al. (2007) Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4.

Baumgart DC et al. (2007) Inflammatory bowel disease: cause and immunobiology.

Barnich N et al. (2007) CEACAM6 acts as a receptor for adherent-invasive E. coli, supporting ileal mucosa colonization in Crohn disease.

Parkes M et al. (2007) Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility.

Raelson JV et al. (2007) Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci.

Cho JH et al. (2007) The genetics of inflammatory bowel disease.

None (2008) New links to the pathogenesis of Crohn disease provided by genome-wide association scans.

Shugart YY et al. (2008) An SNP linkage scan identifies significant Crohn's disease loci on chromosomes 13q13.3 and, in Jewish families, on 1p35.2 and 3q29.

Franke A et al. (2008) Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.

Zhernakova A et al. (2008) Genetic analysis of innate immunity in Crohn's disease and ulcerative colitis identifies two susceptibility loci harboring CARD9 and IL18RAP.

Barrett JC et al. (2008) Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

Martínez A et. al. (2008) Association of the STAT4 gene with increased susceptibility for some immune-mediated diseases.

Franke A et al. (2008) Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility.

None () ////

Silverberg MS et al. (2009) Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Weersma RK et al. (2009) Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort.

Wang K et al. (2009) Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease.

Glas J et al. (2009) rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population.

Abraham C et al. (2009) Inflammatory bowel disease.

Wang K et al. (2010) Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects.

Franke A et al. (2010) Genome-wide association study for ulcerative colitis identifies risk loci at 7q22 and 22q13 (IL17REL).

McGovern DP et al. (2010) Genome-wide association identifies multiple ulcerative colitis susceptibility loci.

McGovern DP et al. (2010) Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease.

Fransen K et al. (2010) Analysis of SNPs with an effect on gene expression identifies UBE2L3 and BCL3 as potential new risk genes for Crohn's disease.

Momozawa Y et al. (2011) Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease.

Khor B et al. (2011) Genetics and pathogenesis of inflammatory bowel disease.

Elding H et al. (2011) Dissecting the genetics of complex inheritance: linkage disequilibrium mapping provides insight into Crohn disease.

Jostins L et al. (2012) Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.

None (1996) Genetics of inflammatory bowel disease.

Yoneno K et al. (2013) TGR5 signalling inhibits the production of pro-inflammatory cytokines by in vitro differentiated inflammatory and intestinal macrophages in Crohn's disease.

Adolph TE et al. (2013) Paneth cells as a site of origin for intestinal inflammation.

Monteleone G et al. (2015) Mongersen, an oral SMAD7 antisense oligonucleotide, and Crohn's disease.

Huang H et al. (2017) Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Parikh K et al. (2019) Colonic epithelial cell diversity in health and inflammatory bowel disease.

Nanki K et al. (2020) Somatic inflammatory gene mutations in human ulcerative colitis epithelium.

Kakiuchi N et al. (2020) Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis.

Teratani T et al. (2020) The liver-brain-gut neural arc maintains the T cell niche in the gut.

Yao Q et al. (2011) A new category of autoinflammatory disease associated with NOD2 gene mutations.

Yao Q et al. (2013) Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations.

Yao Q et al. (2015) NOD2-associated autoinflammatory disease: a large cohort study.

Yao Q et al. (2017) A Systematic Analysis of Treatment and Outcomes of NOD2-Associated Autoinflammatory Disease.