NOD2

Summary

Gene Symbol: NOD2
Description: nucleotide binding oligomerization domain containing 2
Alias: ACUG, BLAU, BLAUS, CARD15, CLR16.3, IBD1, NLRC2, NOD2B, PSORAS1, YAOS, nucleotide-binding oligomerization domain-containing protein 2, NLR family, CARD domain containing 2, NOD-like receptor C2, caspase recruitment domain family, member 15, caspase recruitment domain protein 15, caspase recruitment domain-containing protein 15, inflammatory bowel disease protein 1, nucleotide-binding oligomerization domain 2, nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2
Species: human

Top Publications

  1. ncbi A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    Y Ogura
    Department of Pathology and Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
    Nature 411:603-6. 2001
  2. doi NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation
    Rachel Cooney
    Medical Research Council Human Immunology Unit, Weatherall Institute of Molecular Medicine, Headington, Oxford, UK
    Nat Med 16:90-7. 2010
  3. ncbi Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    J P Hugot
    Fondation Jean Dausset CEPH, 27 rue J Dodu 75010 Paris, France
    Nature 411:599-603. 2001
  4. pmc A novel motif in the Crohn's disease susceptibility protein, NOD2, allows TRAF4 to down-regulate innate immune responses
    Jill M Marinis
    Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
    J Biol Chem 286:1938-50. 2011
  5. ncbi CARD15 mutations in Blau syndrome
    C Miceli-Richard
    Fondation Jean Dausset CEPH, Paris, France
    Nat Genet 29:19-20. 2001
  6. ncbi Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan
    Denise K Bonen
    Martin Boyer Laboratories, Gastroenterology Section, Department of Medicine, University of Chicago Hospitals, Chicago, Illinois, USA
    Gastroenterology 124:140-6. 2003
  7. ncbi TNF-alpha and IFN-gamma regulate the expression of the NOD2 (CARD15) gene in human intestinal epithelial cells
    Philip Rosenstiel
    1st Department of Medicine, Christian Albrechts University Kiel, Germany
    Gastroenterology 124:1001-9. 2003
  8. ncbi A role for Erbin in the regulation of Nod2-dependent NF-kappaB signaling
    Christine McDonald
    Department of Pathology, University of Michigan Medical School and Comprehensive Cancer Center, Ann Arbor, Michigan, 48109, USA
    J Biol Chem 280:40301-9. 2005
  9. pmc Direct and indirect induction by 1,25-dihydroxyvitamin D3 of the NOD2/CARD15-defensin beta2 innate immune pathway defective in Crohn disease
    Tian Tian Wang
    Department of Physiology, Montreal General Hospital, Canada
    J Biol Chem 285:2227-31. 2010
  10. pmc Role for erbin in bacterial activation of Nod2
    T A Kufer
    Immunité Innée et Signalisation, Institut Pasteur, 28 rue du Docteur Roux, 75724 Paris, France
    Infect Immun 74:3115-24. 2006

Research Grants

  1. Understanding/ Treating Neuropsychiatric Symptoms of Pediatric Physical Illness
    Eva Szigethy; Fiscal Year: 2009
  2. Adherent Escherichia coli and associated virulence genes in children with IBD
    Sandra C Kim; Fiscal Year: 2010
  3. Christian Jobin; Fiscal Year: 2014
  4. Thirumala Devi Kanneganti; Fiscal Year: 2016
  5. Alteration Of The Tight Junction Complex In Pouchitis
    Lisa S Poritz; Fiscal Year: 2011
  6. Judy H Cho; Fiscal Year: 2016
  7. Peptidoglycan Signaling in Crohn's Disease
    Gabriel Nunez; Fiscal Year: 2009
  8. KEN HASHIGIWA CADWELL; Fiscal Year: 2016
  9. Identifying Disease Variants for Familial Crohns Disease
    Steven R Brant; Fiscal Year: 2010
  10. Mechanisms of abnormal enterochromaffin cell secretion in Crohn's disease
    Mark S Kidd; Fiscal Year: 2012

Patents

  1. Genes involved in intestinal inflammatory diseases and use thereof

Detail Information

Publications309 found, 100 shown here

  1. ncbi A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
    Y Ogura
    Department of Pathology and Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
    Nature 411:603-6. 2001
    ..b>NOD2, a gene that encodes a protein with homology to plant disease resistance gene products is located in the peak ..
  2. doi NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation
    Rachel Cooney
    Medical Research Council Human Immunology Unit, Weatherall Institute of Molecular Medicine, Headington, Oxford, UK
    Nat Med 16:90-7. 2010
    Nucleotide-binding oligomerization domain-containing-2 (NOD2) acts as a bacterial sensor in dendritic cells (DCs), but it is not clear how bacterial recognition links with antigen presentation after NOD2 stimulation...
  3. ncbi Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
    J P Hugot
    Fondation Jean Dausset CEPH, 27 rue J Dodu 75010 Paris, France
    Nature 411:599-603. 2001
    ..to identify three independent associations for Crohn's disease: a frameshift variant and two missense variants of NOD2, encoding a member of the Apaf-1/Ced-4 superfamily of apoptosis regulators that is expressed in monocytes...
  4. pmc A novel motif in the Crohn's disease susceptibility protein, NOD2, allows TRAF4 to down-regulate innate immune responses
    Jill M Marinis
    Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio 44106, USA
    J Biol Chem 286:1938-50. 2011
    The Crohn's disease and early onset sarcoidosis susceptibility protein, NOD2, coordinates innate immune signaling pathways...
  5. ncbi CARD15 mutations in Blau syndrome
    C Miceli-Richard
    Fondation Jean Dausset CEPH, Paris, France
    Nat Genet 29:19-20. 2001
    We have identified three missense mutations in the nucleotide-binding domain (NBD) of CARD15/NOD2 in four French and German families with Blau syndrome...
  6. ncbi Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan
    Denise K Bonen
    Martin Boyer Laboratories, Gastroenterology Section, Department of Medicine, University of Chicago Hospitals, Chicago, Illinois, USA
    Gastroenterology 124:140-6. 2003
    The NOD2 variants R702W, G908R, and L1007fsinsC are strongly associated with Crohn's disease (CD) in both European and American populations, but whether this susceptibility extends to all ethnic groups remains unknown...
  7. ncbi TNF-alpha and IFN-gamma regulate the expression of the NOD2 (CARD15) gene in human intestinal epithelial cells
    Philip Rosenstiel
    1st Department of Medicine, Christian Albrechts University Kiel, Germany
    Gastroenterology 124:1001-9. 2003
    b>NOD2, a member of the NOD1/Apaf-1 family, was recently identified as the first susceptibility gene for Crohn's disease...
  8. ncbi A role for Erbin in the regulation of Nod2-dependent NF-kappaB signaling
    Christine McDonald
    Department of Pathology, University of Michigan Medical School and Comprehensive Cancer Center, Ann Arbor, Michigan, 48109, USA
    J Biol Chem 280:40301-9. 2005
    ..Specific mutations of Nod2 have been associated with two inflammatory diseases, Crohn disease and Blau syndrome, and are thought to contribute to disease susceptibility through altering Nod2 signaling...
  9. pmc Direct and indirect induction by 1,25-dihydroxyvitamin D3 of the NOD2/CARD15-defensin beta2 innate immune pathway defective in Crohn disease
    Tian Tian Wang
    Department of Physiology, Montreal General Hospital, Canada
    J Biol Chem 285:2227-31. 2010
    ..vitamin D, 1,25-dihydroxyvitamin D(3), robustly stimulates expression of pattern recognition receptor NOD2/CARD15/IBD1 gene and protein in primary human monocytic and epithelial cells...
  10. pmc Role for erbin in bacterial activation of Nod2
    T A Kufer
    Immunité Innée et Signalisation, Institut Pasteur, 28 rue du Docteur Roux, 75724 Paris, France
    Infect Immun 74:3115-24. 2006
    Intracellular peptidoglycan (PG) recognition in human cells is mediated by the NACHT-LRR proteins Nod1 and Nod2. Elicitation of these proteins by PG motifs released from invasive bacteria triggers signaling events, resulting in the ..
  11. pmc Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk
    Janina Suchy
    International Hereditary Cancer Center Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
    BMC Cancer 8:112. 2008
    ..This fact suggests that genetic variations in inflammatory response genes may act as CRC disease risk modifiers...
  12. doi A novel mutation in the NOD2 gene associated with Blau syndrome: a Norwegian family with four affected members
    N Milman
    Department of Clinical Biochemistry, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    Scand J Rheumatol 38:190-7. 2009
    Blau syndrome is a chronic granulomatous disease with an autosomal dominant trait characterized by the triad granulomatous dermatitis, arthritis, and uveitis. It is caused by mutations in the NOD2 gene, also termed the CARD15 gene.
  13. pmc Proteasomal degradation of Nod2 protein mediates tolerance to bacterial cell wall components
    Kyoung Hee Lee
    Department of Cancer Immunology and AIDS, Dana Farber Cancer Institute, Boston, Massachusetts 02215, USA
    J Biol Chem 287:39800-11. 2012
    ..However, the mechanism underlying tolerance is not understood. Here, we show that activation of Nod2 by its ligand, muramyl dipeptide (MDP) in the bacterial cell wall, induces rapid degradation of Nod2, which confers ..
  14. pmc Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population
    Maria Gazouli
    Department of Histology Embryology, 53 Antaiou St Ano Patisia, 11146 Athens, Greece
    World J Gastroenterol 11:681-5. 2005
    ..Apart from CARD15/NOD2 gene, evidence is accumulating that molecules related to the innate immune response such as CD14 or Toll-like ..
  15. doi Mutational analysis of human NOD1 and NOD2 NACHT domains reveals different modes of activation
    Birte Zurek
    Institute for Medical Microbiology, Immunology and Hygiene, University of Cologne, Cologne, Germany
    Innate Immun 18:100-11. 2012
    ..affecting key residues of the ATPase domain of NOD2 are linked to severe auto-inflammatory diseases, such as Blau syndrome and early-onset sarcoidosis...
  16. ncbi Nod2 is a general sensor of peptidoglycan through muramyl dipeptide (MDP) detection
    Stephen E Girardin
    Unite de Pathogenie Microbienne Moleculaire, INSERM U389, Paris Cedex 15, France
    J Biol Chem 278:8869-72. 2003
    b>Nod2 activates the NF-kappaB pathway following intracellular stimulation by bacterial products...
  17. ncbi The NOD2-RICK complex signals from the plasma membrane
    Patrick Lecine
    Centre de Recherche en Cancerologie de Marseille, UMR 599 INSERM Institut Paoli Calmettes Universitédela Méditerranée, 27 Boulevard LeïRoure, 13009 Marseille, France
    J Biol Chem 282:15197-207. 2007
    b>NOD2 plays an important role in the innate immunity of the intestinal tract...
  18. ncbi NOD2 gene-associated pediatric granulomatous arthritis: clinical diversity, novel and recurrent mutations, and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort
    Juan I Arostegui
    Servicio de Inmunologia, Hospital Clinic, Barcelona, Spain
    Arthritis Rheum 56:3805-13. 2007
    b>Blau syndrome and early-onset sarcoidosis are NOD2 gene-associated chronic autoinflammatory diseases characterized by skin rash, arthritis, and/or eye involvement, with noncaseating granulomata as their pathologic hallmark...
  19. pmc Activation of innate immune antiviral responses by Nod2
    Ahmed Sabbah
    Department of Microbiology and Immunology, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA
    Nat Immunol 10:1073-80. 2009
    ..Here we show that nucleotide-binding oligomerization domain 2 (Nod2) can also function as a cytoplasmic viral PRR by triggering activation of interferon-regulatory factor 3 (IRF3) and ..
  20. ncbi Predictive value of the CARD15 variant 1007fs for the diagnosis of intestinal stenoses and the need for surgery in Crohn's disease in clinical practice: results of a prospective study
    Julia Seiderer
    Department of Internal Medicine II Grosshadern, University of Munich, D 81377 Munich, Germany
    Inflamm Bowel Dis 12:1114-21. 2006
    The diagnostic and therapeutic relevance of CARD15 genotyping in Crohn's disease (CD) for daily clinical practice has not been investigated so far...
  21. ncbi The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease
    Andrew P Cuthbert
    Division of Medical and Molecular Genetics, Guy s, King s, and St Thomas School of Medicine, London, England, United Kingdom
    Gastroenterology 122:867-74. 2002
    Mutations in the NOD2 gene are strongly associated with susceptibility to Crohn's disease (CD)...
  22. doi DUOX2-derived reactive oxygen species are effectors of NOD2-mediated antibacterial responses
    Simone Lipinski
    Institute of Clinical Molecular Biology, Christian Albrechts University, 24105 Kiel, Germany
    J Cell Sci 122:3522-30. 2009
    ..b>NOD2 recognizes the bacterial cell wall component muramyldipeptide leading to NFkappaB and MAPK activation via induced ..
  23. ncbi Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB
    Y Ogura
    Department of Pathology and Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, MI 48109, USA
    J Biol Chem 276:4812-8. 2001
    ..b>Nod2, a third member of the family, was identified...
  24. pmc Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition
    Tsuyoshi Tanabe
    Department of Pathology and Comprehensive Cancer Center, University of Michigan Medical School, Ann Arbor, MI, USA
    EMBO J 23:1587-97. 2004
    Multiple genetic variants of CARD15/NOD2 have been associated with susceptibility to Crohn's disease and Blau syndrome...
  25. ncbi Analysis of the three common mutations in the CARD15 gene (R702W, G908R and 1007fs) in South African colored patients with inflammatory bowel disease
    M G Zaahl
    Department of Genetics, University of Stellenbosch, Matieland, Stellenbosch 7602, South Africa
    Mol Cell Probes 19:278-81. 2005
    The caspase recruitment domain-containing protein 15 gene (CARD15) was recently identified as an important susceptibility gene for Crohn's disease (CD)...
  26. pmc A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
    Richard H Duerr
    Division of Gastroenterology, Hepatology and Nutrition, Department of Medicine, School of Medicine, University of Pittsburgh, University of Pittsburgh Medical Center Presbyterian, Mezzanine Level, C Wing, 200 Lothrop Street, Pittsburgh, PA 15213, USA
    Science 314:1461-3. 2006
    ..These results and previous studies on the proinflammatory role of IL-23 prioritize this signaling pathway as a therapeutic target in inflammatory bowel disease...
  27. pmc IL23R variation determines susceptibility but not disease phenotype in inflammatory bowel disease
    Mark Tremelling
    IBD Research Group, Addenbrooke s Hospital, University of Cambridge, Cambridge, England, UK
    Gastroenterology 132:1657-64. 2007
    ..We tested for association between IL23R and IBD in a large independent UK panel to determine the size of the effect and explore subphenotype correlation and interaction with CARD15.
  28. ncbi TLR- and NOD2-dependent regulation of human phagocyte-specific chitotriosidase
    Marco van Eijk
    Department of Medical Biochemistry, University of Amsterdam, Academic Medical Center, 1100 DE Amsterdam, The Netherlands
    FEBS Lett 581:5389-95. 2007
    ..We find that TLR, but not NOD2 activation, regulates chitotriosidase release by neutrophils...
  29. doi The effect of NOD2 activation on TLR2-mediated cytokine responses is dependent on activation dose and NOD2 genotype
    M E A Borm
    Department of Molecular Cell Biology and Immunology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands
    Genes Immun 9:274-8. 2008
    The mechanism by which mutations in NOD2 predispose to Crohn's disease (CD) is incompletely understood. In mice, NOD2 has been found to function as a negative regulator of Toll-like receptor 2 (TLR2) signaling...
  30. pmc Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer
    Nikolaus Möckelmann
    Department of General Internal Medicine Christian Albrechts University, Kiel, Germany
    BMC Gastroenterol 9:79. 2009
    ..Several polymorphisms of the CARD15 gene (caspase activating recruitment domain, member 15) have been reported to be associated with an increased ..
  31. doi NOD2 gene polymorphism rs2066844 associates with need for combined liver-intestine transplantation in children with short-gut syndrome
    Mylarappa Ningappa
    Hillman Center for Pediatric Transplantation, University of Pittsburgh, Pittsburgh, Pennsylvania 15224, USA
    Am J Gastroenterol 106:157-65. 2011
    The nucleotide-binding oligomerization protein 2 (NOD2) gene single nucleotide polymorphisms (SNPs) associated with Crohn's disease were recently associated with severe rejection after small-bowel transplantation (SBTx)...
  32. doi TLR8 and NOD signaling synergistically induce the production of IL-1β and IL-23 in monocyte-derived DCs and enhance the expression of the feedback inhibitor SOCS2
    Harald Schwarz
    Department of Molecular Biology, Division of Allergy and Immunology, Paris Lodron University of Salzburg, Austria
    Immunobiology 218:533-42. 2013
    ..In the present study we investigate the interplay of the NLRs NOD1 and NOD2 and their crosstalk with TLR signaling in terms of DC-activation...
  33. doi Response to medical treatment in patients with Crohn's disease: the role of NOD2/CRAD15, disease phenotype, and age of diagnosis
    B Weiss
    Division of Pediatric Gastroenterology and Nutrition, Safra Children s Hospital, Sheba Medical Center, Tel Hashomer, Israel
    Dig Dis Sci 55:1674-80. 2010
    ..We aimed to evaluate the relationships between NOD2/CARD15 mutations, disease phenotype and age of CD diagnosis and response to medical treatment with systemic steroids, ..
  34. pmc Replication and meta-analysis of 13,000 cases defines the risk for interleukin-23 receptor and autophagy-related 16-like 1 variants in Crohn's disease
    Lynn Cotterill
    Department of Medical Genetics, Manchester Academic Health, Manchester, United Kingdom
    Can J Gastroenterol 24:297-302. 2010
    ..To assess the effect size of these variants, an independent case-control association study and meta-analysis were performed...
  35. pmc TRIM27 negatively regulates NOD2 by ubiquitination and proteasomal degradation
    Birte Zurek
    Institute for Medical Microbiology, Immunology and Hygiene, University of Cologne, Cologne, Germany
    PLoS ONE 7:e41255. 2012
    b>NOD2, the nucleotide-binding domain and leucine-rich repeat containing gene family (NLR) member 2 is involved in mediating antimicrobial responses...
  36. pmc Influence of Crohn's disease risk alleles and smoking on disease location
    Hongyan Chen
    Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA
    Dis Colon Rectum 54:1020-5. 2011
    ..Our objective is to assess the effect of genetic and environmental factors on Crohn's disease location...
  37. doi Molecular prediction of disease risk and severity in a large Dutch Crohn's disease cohort
    R K Weersma
    Department of Gastroenterology and Hepatology, University Medical Center Groningen and University of Groningen, P O Box 30001, 9700 RB Groningen, The Netherlands
    Gut 58:388-95. 2009
    ..We assessed the risk for both the development and severity of the disease by combining information from genetic variants associated with inflammatory bowel disease (IBD)...
  38. pmc Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases
    Mathias Chamaillard
    Fondation Jean Dausset, Centre d Etude du Polymorphisme Humain, 27 rue Juliette Dodu, 75010 Paris, France
    Proc Natl Acad Sci U S A 100:3455-60. 2003
    b>CARD15 is a major susceptibility gene for a frequent multifactorial chronic inflammatory bowel disorder, Crohn disease (CD)...
  39. pmc Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
    Cecile Libioulle
    Unit of Animal Genomics, GIGA R and Faculty of Veterinary Medicine, University of Liege, Liege, Belgium
    PLoS Genet 3:e58. 2007
    ..Two of these (IL23R on Chromosome 1 and CARD15 on Chromosome 16) correspond to genes previously reported to be associated with CD...
  40. ncbi Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease
    Naohiro Inohara
    Department of Pathology and Comprehensive Cancer Center, The University of Michigan Medical School, Ann Arbor, Michigan 48109, USA
    J Biol Chem 278:5509-12. 2003
    b>NOD2, a protein associated with susceptibility to Crohn's disease, confers responsiveness to bacterial preparations of lipopolysaccharide and peptidoglycan, but the precise moiety recognized remains elusive...
  41. ncbi Association between polymorphisms in caspase recruitment domain containing protein 15 and allergy in two German populations
    Michael Kabesch
    University Children s Hospital, Ludwig Maximilians University Munich, Munchen, Germany
    J Allergy Clin Immunol 111:813-7. 2003
    ..Recently, polymorphisms in caspase recruitment domain containing protein 15 (CARD15), an intracellular LPS receptor protein, have been associated with Crohn's disease...
  42. ncbi The Crohn's disease protein, NOD2, requires RIP2 in order to induce ubiquitinylation of a novel site on NEMO
    Derek W Abbott
    Division of Gastrointestinal Pathology, Department of Pathology, Brigham and Women s Hospital, Harvard Medical School, Boston, MA, USA
    Curr Biol 14:2217-27. 2004
    ..The function of the Crohn's disease protein, NOD2, highlights the biphasic nature of the pathology of Crohn's disease...
  43. ncbi NLRs join TLRs as innate sensors of pathogens
    Fabio Martinon
    Department of Biochemistry, University of Lausanne, BIL Biomedical Research Center, Chemin des Boveresses 155, CH 1066 Epalinges, Switzerland
    Trends Immunol 26:447-54. 2005
    ....
  44. pmc Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
    John D Rioux
    Université de Montréal and the Montreal Heart Institute, Research Center, 5000 rue Belanger, Montreal, Quebec H1T 1C8, Canada
    Nat Genet 39:596-604. 2007
    ..Specifically, in addition to the previously established CARD15 and IL23R associations, we identified strong and significantly replicated associations (combined P < 10(-10)) ..
  45. ncbi Association of polymorphisms of NOD2, TLR4 and CD14 genes with susceptibility to gastric mucosa-associated lymphoid tissue lymphoma
    Filiz Türe-Ozdemir
    Institute of Gastroenterology, Marmara University, Istanbul, Turkey
    Anticancer Res 28:3697-700. 2008
    ..The aim of this study was to evaluate the relationship between NOD2, TLR4 and CD14 genetic polymorphisms and the development of gastric MALT-lymphoma.
  46. doi Genomewide association study of leprosy
    Fu Ren Zhang
    Shandong Provincial Institute of Dermatology and Venereology, Shandong Academy of Medical Science, Jinan, Shandong, China
    N Engl J Med 361:2609-18. 2009
    ..Host genetic factors are thought to influence susceptibility to infection as well as disease progression...
  47. pmc Nod1 and nod2 are expressed in human and murine renal tubular epithelial cells and participate in renal ischemia reperfusion injury
    Alana A Shigeoka
    Department of Immunology and Microbial Sciences, The Scripps Research Institute, La Jolla, CA 92037, USA
    J Immunol 184:2297-304. 2010
    Nucleotide-binding oligomerization domain (Nod) 1 and Nod2 are members of a family of intracellular innate sensors that participate in innate immune responses to pathogens and molecules released during the course of tissue injury, ..
  48. doi The presence of fistulas and NOD2 homozygosity strongly predict intestinal stenosis in Crohn's disease independent of the IL23R genotype
    Matthias Jürgens
    Department of Medicine II, Grosshadern, Ludwig Maximilians University Munich, Marchioninistr 15, 81377, Munich, Germany
    J Gastroenterol 45:721-31. 2010
    We analyzed the prevalence of concomitant intestinal stenosis in patients with fistulizing Crohn's disease (CD), including the NOD2/CARD15 and IL23R genotype status.
  49. ncbi Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation
    Toru Kurokawa
    Department of Ophthalmology, Shinshu University School of Medicine, Matsumoto 390 8621, Japan
    Ophthalmology 110:2040-4. 2003
    To report cases of Blau syndrome with a CARD15/Nod2 mutation.
  50. pmc Deficient host-bacteria interactions in inflammatory bowel disease? The toll-like receptor (TLR)-4 Asp299gly polymorphism is associated with Crohn's disease and ulcerative colitis
    D Franchimont
    Department of Gastroenterology, Erasme University Hospital, Brussels, Belgium
    Gut 53:987-92. 2004
    ..We sought to determine whether this polymorphism was associated with Crohn's disease (CD) and/or ulcerative colitis (UC)...
  51. ncbi NOD2/CARD15 mediates induction of the antimicrobial peptide human beta-defensin-2
    Eske Voss
    Department of Dermatology, University Hospital Schleswig Holstein, Campus Kiel, Schittenhelmstrasse 7, 24105 Kiel, Germany
    J Biol Chem 281:2005-11. 2006
    ..Nucleotide-binding oligomerization domain protein 2 (NOD2/CARD15) is a cytosolic protein involved in intracellular recognition of microbes by sensing peptidoglycan fragments (e.g...
  52. pmc A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1
    Eiichiro Noguchi
    Department of Surgery II, Tokyo Women s Medical University, Tokyo, Japan
    Nat Immunol 10:471-9. 2009
    A common mutation in the gene encoding the cytoplasmic sensor Nod2, involving a frameshift insertion at nucleotide 3020 (3020insC), is strongly associated with Crohn's disease...
  53. pmc Implication of NOD1 and NOD2 for the differentiation of multipotent mesenchymal stem cells derived from human umbilical cord blood
    Hyung Sik Kim
    Adult Stem Cell Research Center, College of Veterinary Medicine, Seoul National University, Seoul, South Korea
    PLoS ONE 5:e15369. 2010
    ..In this study, we investigated whether NOD1 and NOD2 regulate the functions of human umbilical cord blood-derived MSCs (hUCB-MSCs)...
  54. doi A role for membrane-bound CD147 in NOD2-mediated recognition of bacterial cytoinvasion
    Andreas Till
    Institute for Clinical Molecular Biology, University Hospital Schleswig Holstein, Campus Kiel, Schittenhelmstr 12, Kiel, Germany
    J Cell Sci 121:487-95. 2008
    b>NOD2 is an intracellular receptor for the bacterial cell wall component muramyl dipeptide...
  55. ncbi Haplotype structure and association to Crohn's disease of CARD15 mutations in two ethnically divergent populations
    Peter J P Croucher
    1st Department of Medicine, Christian Albrechts University, Kiel, Germany
    Eur J Hum Genet 11:6-16. 2003
    ..The recently described association between single nucleotide polymorphisms (SNPs) of the CARD15 (NOD2) gene and Crohn's disease (CD) in populations of north-European descent provides a test case that we have ..
  56. ncbi NOD2 3020insC alone is not sufficient for colorectal cancer predisposition
    Pia Alhopuro
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Cancer Res 64:7245-7. 2004
    Mutations in NOD2 have been shown to associate with increased susceptibility to Crohn's disease...
  57. ncbi The 3020insC allele of NOD2 predisposes to early-onset breast cancer
    Tomasz Huzarski
    Pomeranian Medical University, Szczecin, Poland
    Breast Cancer Res Treat 89:91-3. 2005
    The NOD2 gene has been associated with susceptibility to Crohn's disease, and more recently with carcinoma of the colon as well. NOD2 is involved in the inflammatory response and the activation of the NFkB pathway...
  58. ncbi Novel CARD15/NOD2 mutations in Finnish patients with Crohn's disease and their relation to phenotypic variation in vitro and in vivo
    Maarit Lappalainen
    Research Program for Molecular Medicine, Biomedicum Helsinki, Finland
    Inflamm Bowel Dis 14:176-85. 2008
    Three mutations (R702W, G908R, and 1007fs) of the CARD15/NOD2 gene associate with Crohn's disease (CD)...
  59. doi The prognostic power of the NOD2 genotype for complicated Crohn's disease: a meta-analysis
    Jeremy Adler
    Department of Pediatrics and Communicable Diseases, University of Michigan Health System, Ann Arbor, MI, USA
    Am J Gastroenterol 106:699-712. 2011
    ..Many studies have suggested that nucleotide-binding oligomerization domain 2 (NOD2) mutations are associated with a varying but increased risk of complicated disease...
  60. doi Association analysis of the NOD2 gene with susceptibility to graft-versus-host disease in a Japanese population
    Tsuyoshi Tanabe
    Department of Public Health, Shimane University Faculty of Medicine, 89 1 Enya cho, Izumo, Shimane 693 8501, Japan
    Int J Hematol 93:771-8. 2011
    ..Recent studies in Caucasians revealed the association between mutants of NOD2, a member of the NLR family, and severity of acute graft-versus-host disease (GVHD)...
  61. pmc A novel single nucleotide polymorphism within the NOD2 gene is associated with pulmonary tuberculosis in the Chinese Han, Uygur and Kazak populations
    Mengyuan Zhao
    Institute of Cell Biology, Zhejiang University, 866 Yuhangtang Road, Hangzhou 310058, China
    BMC Infect Dis 12:91. 2012
    The present study aimed to investigate the genetic polymorphisms in exon 4 of the NOD2 gene in tuberculosis patients and healthy controls, in order to clarify whether polymorphisms in the NOD2 gene is associated with tuberculosis.
  62. pmc A discrete ubiquitin-mediated network regulates the strength of NOD2 signaling
    Justine T Tigno-Aranjuez
    Department of Pathology, Case Western Reserve University School of Medicine, Cleveland, Ohio, USA
    Mol Cell Biol 33:146-58. 2013
    Dysregulation of NOD2 signaling is implicated in the pathology of various inflammatory diseases, including Crohn's disease, asthma, and sarcoidosis, making signaling proteins downstream of NOD2 potential therapeutic targets...
  63. ncbi Caspase recruitment domain-containing protein 15 mutations in patients with colorectal cancer
    Rebecca L Roberts
    Department of Pathology, Christchurch School of Medicine and Health Sciences, New Zealand
    Cancer Res 66:2532-5. 2006
    The caspase recruitment domain-containing protein 15 (CARD15) plays a crucial role in mediating the innate immune response...
  64. pmc Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy
    Anna Latiano
    Struttura Complessa di Endoscopia Digestiva, Ospedale Casa Sollievo della Sofferenza I R C C S, Viale Cappuccini 1, San Giovanni Rotondo, Italy
    World J Gastroenterol 14:4643-51. 2008
    ..To investigate gene variants in a large Italian inflammatory bowel disease (IBD) cohort, and to analyze the correlation of sub-phenotypes (including age at diagnosis) and epistatic interaction with other IBD genes...
  65. ncbi The 3020insC NOD2 gene mutation in patients with ovarian cancer
    Piotr Magnowski
    Department of Gynecology, Obstetrics and Gynecological Oncology, Division of Gynecologic Oncology, Poznan University of Medical Sciences, Poland
    Ginekol Pol 79:544-9. 2008
    ..Mutations of BRCA1 and BRCA2 genes are responsible for an increased risk of ovarian cancer. The role of mutations in NOD2 gene in this type of neoplasm is still under investigation.
  66. ncbi Association between mutations in the CARD15/NOD2 gene and colorectal cancer in a Greek population
    Ioannis Papaconstantinou
    1st Surgical Department, Laikon University Hospital, Athens, Greece
    Int J Cancer 114:433-5. 2005
    ..Recently CARD15/NOD2 has been associated with IBD, which further strengthens the notion that the inflammatory response plays a ..
  67. ncbi NOD2 variants and the risk of malignant melanoma
    T Debniak
    Department of Genetics and Pathology, International Hereditary Cancer Center, Pomeranian Medical University, Szczecin, Poland
    Eur J Cancer Prev 14:143-6. 2005
    ..Among the risk factors for malignant melanoma are immunodeficiency and immunosuppression. The recently identified NOD2 gene is involved in the regulation of immune function through activation of the transcription factor nuclear factor-..
  68. ncbi The adaptor protein CARD9 is required for innate immune responses to intracellular pathogens
    Yen Michael S Hsu
    Department of Molecular and Cellular Oncology, University of Texas, M D Anderson Cancer Center, Houston, Texas 77030, USA
    Nat Immunol 8:198-205. 2007
    ..In wild-type cells, we found CARD9 inducibly associated with both the intracellular 'biosensor' Nod2 and the serine-threonine kinase RICK...
  69. ncbi Combined type-1 plasminogen activator inhibitor and NOD2/CARD15 genotyping predicts complicated Crohn's disease behaviour
    M Alvarez-Lobos
    Department of Gastroenterology, Hospital Clinic, CIBER HEPAD, Barcelona, Spain
    Aliment Pharmacol Ther 25:429-40. 2007
    NOD2/CARD15 gene variants have not been universally associated with stricturing behaviour in Crohn's disease. Other behaviour modifying genes could explain these results.
  70. ncbi No evidence for association of NOD2 R702W and G908R with colorectal cancer
    Sari Tuupanen
    Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Int J Cancer 121:76-9. 2007
    Polymorphisms in nucleotide oligomerization domain 2 gene (NOD2) have been associated with increased susceptibility to Crohn's disease...
  71. pmc Common NOD2/CARD15 variants are not associated with susceptibility or the clinicopathologic characteristics of sporadic colorectal cancer in Hungarian patients
    Peter Laszlo Lakatos
    1st Department of Medicine, Semmelweis University, Budapest, Hungary
    BMC Cancer 7:54. 2007
    ..with longstanding IBD are at an increased risk for developing colorectal cancer (CRC) and mutations of the NOD2/CARD15 gene increase the risk for Crohn's disease (CD)...
  72. ncbi Synergism between TLRs and NOD1/2 in oral epithelial cells
    A Uehara
    Department of Microbiology and Immunology, Tohoku University Graduate School of Dentistry, Sendai, Japan
    J Dent Res 87:682-6. 2008
    ..We found that NOD1 and NOD2 agonists, in combination with TLR agonists, synergistically induced production of PGRPs and of beta-defensin 2 in ..
  73. pmc NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain
    Carlos D Rose
    Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    Arthritis Rheum 60:1797-803. 2009
    To study the phenotype characteristics of the largest to date cohort of patients with pediatric granulomatous arthritis (PGA) and documented mutations in the NOD2 gene.
  74. doi NOD2 gene variants are a risk factor for culture-positive spontaneous bacterial peritonitis and monomicrobial bacterascites in cirrhosis
    Tony Bruns
    Department of Internal Medicine II, Division of Gastroenterology, Hepatology, and Infectious Diseases, Jena University Hospital, Jena, Germany
    Liver Int 32:223-30. 2012
    ..Variants of the NOD2 gene contribute to bacterial translocation and were associated with SBP in a recent study.
  75. pmc Control of NOD2 and Rip2-dependent innate immune activation by GEF-H1
    Yun Zhao
    Center for the Study of Inflammatory Bowel Disease, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Inflamm Bowel Dis 18:603-12. 2012
    Genetic variants of nucleotide-binding oligomerization domain 2 (NOD2) lead to aberrant microbial recognition and can cause chronic inflammatory diseases in patients with Crohn's disease (CD).
  76. pmc The inositol phosphatase SHIP-1 inhibits NOD2-induced NF-κB activation by disturbing the interaction of XIAP with RIP2
    Claude Condé
    Laboratory of Virology and Immunology, Signal Transduction Unit, GIGA R, University of Liege, Liege, Belgium
    PLoS ONE 7:e41005. 2012
    ..Here, we characterize a new inhibitory function for SHIP-1 in NOD2 signaling...
  77. doi Nucleotide oligomerization domain 2 polymorphisms in patients with intestinal failure
    Juan Francisco Guerra
    Georgetown Transplant Institute, Georgetown University Hospital, Washington, DC 20057, USA
    J Gastroenterol Hepatol 28:309-13. 2013
    Nucleotide oligomerization domain 2 (NOD2) has been associated with intestinal immunity after the discovery that its polymorphisms are linked to Crohn's disease (CD)...
  78. ncbi Polymorphism in NOD2, Crohn's disease, and susceptibility to pulmonary tuberculosis
    Jemima C Stockton
    Department of Medicine, University of Cambridge School of Clinical Medicine, Wellcome Trust MRC Building, Addenbrooke s Hospital, Hills Road, Cambridge CB2 2XY, UK
    FEMS Immunol Med Microbiol 41:157-60. 2004
    The nucleotide oligomerization binding domain 2 gene (NOD2) encodes an intracellular receptor for bacterial components, which is expressed in monocytes and is associated with Crohn's Disease (CD)...
  79. ncbi Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome
    Nobuo Kanazawa
    Department of Dermatology, Graduate School of Medicine, Kyoto University, 54 Kawahara cho, Shogoin, Sakyo ku, Kyoto 606 8507, Kyoto, Japan
    Blood 105:1195-7. 2005
    ..Recent discovery of CARD15 mutations in BS families encouraged us to investigate similar CARD15 mutations in EOS patients...
  80. ncbi Human endothelial cells express NOD2/CARD15 and increase IL-6 secretion in response to muramyl dipeptide
    Michael P Davey
    Department of Veterans Affairs Medical Center, Portland, OR 97239 2999, USA
    Microvasc Res 71:103-7. 2006
    Mutations in the human NOD2/CARD15 gene cause Blau syndrome, an autoinflammatory disorder involving the joints, skin and eyes...
  81. ncbi Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men
    Frauke Friedrichs
    Leibniz Institute for Arteriosclerosis Research, Domagkstr 3, 48149, Muenster, Germany
    Hum Genet 119:305-11. 2006
    ..R30Q is a significant predictor for CD in men even when accounting for CARD15 and IBD5 risk variants (adjusted OR=2.41, 95% CI=1.41-4.12, P=0.001)...
  82. ncbi Host susceptibility to tuberculosis: CARD15 polymorphisms in a South African population
    Marlo Möller
    Molecular Biology and Human Genetics, MRC Centre for Molecular and Cellular Biology and DST NRF Centre of Excellence for Biomedical TB Research, Faculty of Health Sciences, PO Box 19063, Stellenbosch University, Tygerberg 7505, South Africa
    Mol Cell Probes 21:148-51. 2007
    ..The caspase recruitment domain-containing protein 15 gene (CARD15), which encodes the NOD2 protein, is a susceptibility gene for Crohn's disease (CD), a granulomatous, chronic ..
  83. ncbi DLG5 R30Q variant is a female-specific protective factor in pediatric onset Crohn's disease
    Vincent Biank
    Department of Pediatrics, Medical College Wisconsin, Milwaukee, Wisconsin 53226, USA
    Am J Gastroenterol 102:391-8. 2007
    ..Pediatric onset CD features a significantly lower incidence for female children compared with male children. We, therefore, studied the influence of gender on R30Q susceptibility in an exclusively pediatric onset IBD cohort...
  84. ncbi Blau syndrome associated with a CARD15/NOD2 mutation
    Bernadette Snyers
    Department of Ophthalmology, Saint Luc University Hospital, Brussels, Belgium
    Am J Ophthalmol 142:1089-92. 2006
    To report a new family with Blau syndrome caused by CARD15/NOD2 mutation.
  85. ncbi Interstitial pneumonitis in Blau syndrome with documented mutation in CARD15
    Mara L Becker
    Section of Rheumatology, Children s Mercy Hospitals and Clinics, Kansas City, Missouri 64108, and Oregon Health and Science University, Portland, USA
    Arthritis Rheum 56:1292-4. 2007
    This is the first report of a CARD15 mutation-positive patient with Blau syndrome who exhibited interstitial lung disease, a feature historically considered absent from Blau syndrome, while typical of the adult form of sarcoidosis...
  86. doi Evolution of Crohn's disease-associated Nod2 mutations
    Christoph Gasche
    Department of Medicine 3, Medical University of Vienna, Vienna, Austria
    Immunogenetics 60:115-20. 2008
    Several lines of evidence have confirmed the importance of Nod2 mutations for disease susceptibility in Crohn's disease...
  87. doi 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
    Jurgen Glas
    Department of Medicine II, Grosshadern, University of Munich, Germany
    Am J Gastroenterol 104:665-72. 2009
    ..Therefore we aimed to replicate these novel CD susceptibility variants in a large European cohort with inflammatory bowel disease and analyzed potential gene-gene interactions with variants in the NOD2/CARD15, IL23R, and ATG16L1 genes.
  88. doi Autophagy 16-like 1 rs2241880 G allele is associated with Crohn's disease in German children
    Martin Lacher
    Department of Paediatric Surgery, Research Laboratories, University of Munich, Munich, Germany
    Acta Paediatr 98:1835-40. 2009
    ..Therefore, we evaluated this polymorphism in early-onset CD in 152 children and 253 controls and for the first time determined ATG16L1 colonic expression in German CD children...
  89. pmc Nucleotide oligomerization domain-2 interacts with 2'-5'-oligoadenylate synthetase type 2 and enhances RNase-L function in THP-1 cells
    Jae W Dugan
    Department of Veterans Affairs Medical Center, Portland, OR 97239 2999, USA
    Mol Immunol 47:560-6. 2009
    Nucleotide-binding and oligomerization domain-2 (NOD2) is an intracellular protein involved in innate immunity and linked to chronic inflammatory diseases in humans...
  90. doi Blau syndrome-associated mutations in exon 4 of the caspase activating recruitment domain 15 (CARD 15) gene are not found in ethnic Danes with sarcoidosis
    Nils Milman
    Department of Medicine B, Division of Lung Transplantation, Rigshospitalet, Copenhagen University Hospital, DK 2100 Copenhagen, Denmark
    Clin Respir J 1:74-9. 2007
    Distinct mutations of the caspase activating recruitment domain 15 (CARD15) gene (also known as nucleotide-binding oligomerisation domain protein 2) on chromosome 16q are associated with the chronic granulomatous disease called Blau ..
  91. ncbi CARD15/NOD2 functions as an antibacterial factor in human intestinal epithelial cells
    Tadakazu Hisamatsu
    Gastrointestinal Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Gastroenterology 124:993-1000. 2003
    Mutations in the CARD15/NOD2 gene, a putative intracellular pattern recognition receptor, have been linked to the risk for Crohn's disease...
  92. ncbi Mutations in CARD15 and smoking confer susceptibility to Crohn's disease in the Danish population
    Anja Ernst
    Department of Clinical Biochemistry, Aalborg Hospital, Aarhus University Hospital, Aalborg, Denmark
    Scand J Gastroenterol 42:1445-51. 2007
    Three CAspase Recruitment Domain (CARD15) mutations have shown to predispose to Crohn's disease in Caucasian populations...
  93. doi Genotype-phenotype analysis of the CXCL16 p.Ala181Val polymorphism in inflammatory bowel disease
    Julia Seiderer
    Department of Medicine II Grosshadern, University of Munich, Germany
    Clin Immunol 127:49-55. 2008
    ..009; OR 2.60; CI 1.29-5.25). Carriers of at least one Val allele and one CARD15/NOD2 variant had a higher incidence of a stricturing and penetrating phenotype (p=0.030, OR 4.04, CI 1.27-12...
  94. pmc Crohn's associated NOD2 gene variants are not involved in determining susceptibility to multiple sclerosis
    S Sawcer
    J Neurol Neurosurg Psychiatry 74:1157. 2003
  95. ncbi A population-based case-control study of CARD15 and other risk factors in Crohn's disease and ulcerative colitis
    Steven R Brant
    Harvey M and Lyn P Meyerhoff Inflammatory Bowel Disease Center, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
    Am J Gastroenterol 102:313-23. 2007
    ..ulcerative colitis (UC) risk factors including family history, tobacco use, Jewish ethnicity, urban residency, and CARD15/NOD2 mutations have been evaluated singly and in hospital-based observational studies...
  96. ncbi The molecular classification of the clinical manifestations of Crohn's disease
    Tariq Ahmad
    Gastroenterology Unit, University of Oxford, Gibson Laboratories, Radcliffe Infirmary, Oxford, United Kingdom
    Gastroenterology 122:854-66. 2002
    ..Mutations in the NOD2/CARD15 gene, recently identified on chromosome 16, have been associated with disease overall but are found in only 25% of ..
  97. pmc CARD15/NOD2 gene variants are associated with familially occurring and complicated forms of Crohn's disease
    T Helio
    Department of Medicine, Helsinki University Hospital, Helsinki, Finland
    Gut 52:558-62. 2003
    Variants of the caspase activating recruitment domain 15/nucleotide oligomerisation domain 2 (CARD15/NOD2) gene have been associated with susceptibility to Crohn's disease (CD).
  98. ncbi CARD15/NOD2 in a Tunisian population with Crohn's disease
    Lilia Zouiten-Mekki
    Service de Gastro entérologie A, Hopital La Rabta, Tunis, Tunisie
    Dig Dis Sci 50:130-5. 2005
    ..Recently, in this region, NOD2/CARD15 has been identified as a susceptibility gene...
  99. pmc A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort
    J Hampe
    First Medical Department, Christian Albrechts University, Kiel, Germany
    Am J Hum Genet 64:808-16. 1999
    ..This genomewide linkage scan, done with a large family cohort, has confirmed three previous IBD linkages and has provided evidence for five additional regions that may harbor IBD predisposition genes...
  100. ncbi CLAN, a novel human CED-4-like gene
    J S Damiano
    The Burnham Institute, La Jolla, California 92037, USA
    Genomics 75:77-83. 2001
    ..The CARD of the CLAN proteins binds a number of other CARD-containing proteins including caspase-1, BCL10, NOD2, and NAC. Once their physiologic functions are uncovered, CLAN proteins may prove to be valuable therapeutic targets...
  101. pmc CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis
    P Rahman
    St Clare s Mercy Hospital, Memorial University of Newfoundland, St John s, Newfoundland, Canada A1C 5B8
    Am J Hum Genet 73:677-81. 2003
    A recent genomewide scan in psoriatic arthritis (PsA) revealed a susceptibility locus at 16q. This region overlaps CARD15, a susceptibility gene in Crohn disease...

Research Grants67

  1. Understanding/ Treating Neuropsychiatric Symptoms of Pediatric Physical Illness
    Eva Szigethy; Fiscal Year: 2009
    ..abstract_text> ..
  2. Adherent Escherichia coli and associated virulence genes in children with IBD
    Sandra C Kim; Fiscal Year: 2010
    ..Specific aim 2: Determine if polymorphisms of genes that regulate bacterial processing and killing (NOD2, ATG16L1, IRGM) are associated with (a) mucosal colonization in the intestine of AIEC, and (b) increased E...
  3. Christian Jobin; Fiscal Year: 2014
    ..transcriptional system lies two important signaling molecules involved in bacteria sensing/detection;MyD88 and Nod2. Although both proteins are critical for transmitting bacteria-induced NF-kB signaling, the intestine of either ..
  4. Thirumala Devi Kanneganti; Fiscal Year: 2016
    ..recently, single nucleotide polymorphisms (SNPs) in the genes encoding the NOD-like receptor (NLR) family members Nod2 and Nlrp3 were linked to CD susceptibility...
  5. Alteration Of The Tight Junction Complex In Pouchitis
    Lisa S Poritz; Fiscal Year: 2011
    ..The only gene that has been linked to increased susceptibility in inflammatory bowel disease is a mutation in NOD2. Our group has shown that patients with ulcerative colitis and a NOD2 mutation have an increased risk of pouchitis ..
  6. Judy H Cho; Fiscal Year: 2016
    ..A striking overlap of IBD loci with mycobacterial susceptibility loci is observed, and a NOD2- focused analysis of a macrophage-enriched inflammatory module identifies additional IBD-associated genes nearby in ..
  7. Peptidoglycan Signaling in Crohn's Disease
    Gabriel Nunez; Fiscal Year: 2009
    ..CD was originally mapped at the pericentromeric region of chromosome 16 (IBD1 locus) and later identified as NOD2/CARD15. Three major NOD2 mutations, L1007fsinsC, R702W and G908R have been found to be associated with CD in Caucasian ..
  8. KEN HASHIGIWA CADWELL; Fiscal Year: 2016
    ..Atg16L1 and Nod2 are two Crohn's disease susceptibility genes that have received much attention because of their critical ..
  9. Identifying Disease Variants for Familial Crohns Disease
    Steven R Brant; Fiscal Year: 2010
    ..Non-parametric linkage analysis confirmed the IBD1 locus (Lod of 4...
  10. Mechanisms of abnormal enterochromaffin cell secretion in Crohn's disease
    Mark S Kidd; Fiscal Year: 2012
    ..in Crohn's pathogenesis through activation of TOLL4 receptor and IL1[unreadable] receptor (TIL) and NOD2/CARD15 signaling...
  11. David Q Shih; Fiscal Year: 2016
    ..studies (GWAS) identified several IBD associated genes including intracellular pattern recognition sensor NOD2, autophagy genes (ATG16L1 and IRGM) and tumor necrosis factor superfamily member 15 (TNFSF15)...
  12. SHERVIN RABIZADEH; Fiscal Year: 2014
    ..There is a strong association of NOD2 gene mutations and Crohn's disease...
  13. Mechanisms of Chronic Nod2-mediated Effects in Human Macrophages
    Clara Abraham; Fiscal Year: 2012
    ..Crohn's disease is associated with loss-of-function polymorphisms in NOD2 (CARD15)...
  14. Detection of inflammation vs. intestinal fibrosis in Crohn's disease
    Ellen M Zimmermann; Fiscal Year: 2011
    ..disease over time and with therapy in a "low fibrosis risk group" and a "high fibrosis risk group" defined by NOD2 genotype. Our goal is to develop these two promising modalities to specifically detect tissue fibrosis...
  15. Steven R Brant; Fiscal Year: 2016
    ..serological associations of AA CD, clinical disparity studies, and most recently evaluation of admixture in AA CD, NOD2 the other four most well characterized CD genetic loci...
  16. Low-Pass Sequencing and High-Density SNP Genotyping for Type 2 Diabetes
    MICHAEL LEE contact BOEHNKE; Fiscal Year: 2010
    ..T2D and other diseases - in particular, by querying lower-frequency causal alleles (such as those found in IL23R, NOD2, IFIH1, and PCSK9)...
  17. Regulation of immunosuppresive molecules in IBD
    Christian Jobin; Fiscal Year: 2009
    ..transcriptional system lies two important signaling molecules involved in bacteria sensing/detection;MyD88 and Nod2. Although both proteins are critical for transmitting bacteria-induced NF-[unreadable]B signaling, the intestine of ..
  18. Jill A Poole; Fiscal Year: 2016
    ..including cell surface Toll-like receptor 2 (TLR2) and the cytosolic nuclear oligomerization domain molecule (NOD2)...
  19. Ex vivo rejuvenation and expansion of muscle stem cells from aged mice
    BENJAMIN DAVID COSGROVE; Fiscal Year: 2013
    ..These activities will be mentored by Drs. Helen Blau (primary), Scott Delp (co-mentor), and Garry Nolan (co-mentor) at Stanford University, which is a world-class stem ..
  20. Generating iPS cells by reprogramming using small molecules
    Aravind Ramakrishnan; Fiscal Year: 2013
    ..Beverly Torok-Storb. The applicant will also benefit from the guidance of Drs. Randall Moon, C. Anthony Blau, and Carol Ware who will form his advisory committee...
  21. Biomarkers for Inflammatory Bowel Disease Behavior and Treatment Response
    LEE ARMISTEAD DENSON; Fiscal Year: 2012
    ..These data will determine whether neutralizing GM-CSF Ab are inherited as a quantitative trait influenced by CARD15 and IRGM genetic polymorphisms. Aim 3. Examine GM-CSF Ab regulation of neutrophil function...
  22. Role of formyl peptide receptor variants in mucosal innate immune defense
    HEINI MARITA MIETTINEN; Fiscal Year: 2010
    ..identified, such as proteins involved in recognition of certain bacterial components: For example, mutations in NOD2 and TLR-4 that affect binding of their ligands (bacterial muramyl dipeptide and LPS) have been shown to be ..
  23. Role of NOD2 in Inflammatory Arthritis and Innate Immunity
    MICHAEL PATRICK DAVEY; Fiscal Year: 2012
    ..This application focuses on one NLR, nucleotide oligomerization domain-2 (NOD2)...
  24. Jae W Dugan; Fiscal Year: 2015
    ..linked to Crohn's disease, sarcoidosis, asthma, atopy, peritonitis, graft- versus-host disease, leprosy and Blau syndrome (chronic granulomatous inflammation of the skin, eyes, and joints)...
  25. The Role of Genetics in Innate Immunity Following Cholestasis
    Samuel M Alaish; Fiscal Year: 2011
    ..Third, we will determine what role the NOD1 and NOD2 signaling pathways play...
  26. Samithamby Jeyaseelan; Fiscal Year: 2016
    ..expression of NLRP6 during resting stage and upon bacterial infection;(3) as compared with other NLRs (NOD1, NOD2, NLRP3 and NLRC4), NLRP6 is most prominent for bacterial clearance in the lungs during Klebsiella pneumonia;(4) ..
  27. Derek W Abbott; Fiscal Year: 2016
    ..to study the mechanisms of this downregulation by focusing on the signal transduction mechanisms of NOD2 protein (CARD15 gene) and on NOD2's role in initiating and maintaining the cytokine response...
  28. Directed differentiation of embryonic stem cells for urologic applications
    James A Bassuk; Fiscal Year: 2010
    ..Under the guidance of Drs. Carol Ware (Mentor), C. Anthony Blau (Co-Mentor), Simon Hayward (Contributor) and Andrew Farr (Contributor), the Candidate will be trained in the proper ..
  29. Helen M Blau; Fiscal Year: 2016
    ..We (the Blau lab) found the first evidence implicating cellular senescence in DMD in 1983, and very convincing evidence linking ..
  30. Gabriel Nunez; Fiscal Year: 2015
    ..NLR family members including NOD1, NOD2, NLRC4 and NLRP3 are intracellular proteins that are involved in the recognition of microbial components and ..
  31. Regulation of Oral Bacteria by Pattern Recognition Receptors
    Naohiro Inohara; Fiscal Year: 2012
    ..Thus, we hypothesize that PRRs, specifically Nod1/ Nod2, affect microflora development and pathogenic bacteria in oral cavity through host immune responses...
  32. Effect of Crohn's Disease Risk Alleles on Enteric Microbiota
    Ellen Li; Fiscal Year: 2010
    ..Crohn's disease (CD) risk alleles, such as the NOD2 and ATG16L1, have been associated with defective host containment of commensal bacteria...
  33. David M Underhill; Fiscal Year: 2015
    ..peptidoglycan may be cleaved to release muramyl dipeptide, a ligand for the cytosolic pattern recognition receptor Nod2. In this project, we will stretch the definition of a pattern recognition receptor to include the host enzyme ..
  34. Crohn's disease-associated NOD2 Mutants
    Xiaojing Ma; Fiscal Year: 2010
    Nucleotide-binding oligomerization domain 2 (NOD2) is a monocyte-restricted member of a protein family critically involved in the activation of NF-KB in response to certain intracellular microbial infection...
  35. Functions of mammalian PGLYRPs in the cornea
    Shukti Chakravarti; Fiscal Year: 2012
    ..aeruginosa keratitis model. 2a)Test if the PGLYRPs cross talk with innate immune signals (TLR2, 4 and Nod2) in the cornea to up regulate cytokines and b- defensins, and 2b) whether the PGLYRPs expedite corneal healing by ..
  36. Physical Regulation of Muscle Stem Cells in Bioengineered 3D Models
    PENNEY MARIE GILBERT; Fiscal Year: 2011
    ..Helen Blau. Together, the proposed studies and career development training will ensure I achieve my long term career goal;to ..
  37. Innate Immunity in Otitis Media Pathogenesis
    David J Lim; Fiscal Year: 2013
    ..Our overall hypotheses are: a) NOD2- and TLR2-mediated activation of NF-:B is required for NTHi- induced 2-defensin 2 up-regulation and contributes to ..
  38. Intracellular Bacterial Recognition in the Drosophila Innate Immune Response
    Neal Silverman; Fiscal Year: 2012
    ..Animals deficient in these receptors are hypersusceptible to infection, while humans carrying mutations in NOD2 and NALP3 suffer from autoinflammatory Crohn's disease and Muckle Wells Syndrome...
  39. Role of Innate Immunity in Pathogenesis of Chlamydia Pneumonia Infection
    Moshe Arditi; Fiscal Year: 2010
    ..TLR/MyD88-independent pathways which include NOD1 and NOD2 may also be involved in innate host defenses against this obligate intracellular organism...
  40. Regulation of gut differentiation and defensin genes by transcription factor lsx
    MICHAEL YOONSUK CHOI; Fiscal Year: 2011
    ..Independently, Nod2, a gene that is implicated in human Crohn's disease pathogenesis, also regulates expression levels of selected ..
  41. Helen M Blau; Fiscal Year: 2014
    ..our drug to several age-related conditions mediated by short telomeres: hypertension and heart failure (Cooke and Blau labs), immunosenescence (Weyand lab), and vascular dementia (Yesavage lab) (see supporting letters)...
  42. Sanjay Batra; Fiscal Year: 2016
    ..airway epithelial cells and human alveolar macrophages as well as murine lungs;3) as compared to other NLRs (NOD1, NOD2, NLRP1, NLRP3, and NLRC4), NLRP12 activation leads to much higher production of IL-1[unreadable], IL-18 and IL-17 ..
  43. Salomon Amar; Fiscal Year: 2016
    ..Nucleotide binding oligomerization domain- like receptors (NOD1 and NOD2) represent an immune surveillance system that detects the presence of microbial molecules inside the cell...
  44. Novel intracellular pattern recognition receptor expression by resident CNS cells
    Ian Marriott; Fiscal Year: 2009
    ..the possible mechanisms that underlie glial activation with the demonstration that these cells functionally express NOD2, a member of the nucleotide-binding oligomerization domain (NOD) family of proteins that serves as an intracellular ..
  45. Nikon A1Rsi resonant spectral confocal microscope
    Margaret T Fuller; Fiscal Year: 2013
    ..the development of epilepsy (mice, rat, Prince);(9) Dynamic analyses of stem cell division and fate (human, Blau)...
  46. Michael Croft; Fiscal Year: 2016
    ..We have further shown that signals through two pattern recognition receptors (PRR), TLR4 and Nod2, expressed in the lung, directly antagonize development of the iTreg and instead favor the development of ..
  47. MACROPHAGE GENE EXPRESSION IN MUCOSAL INFLAMMATION
    Scott E Plevy; Fiscal Year: 2010
    ..Specifically, the CD susceptibility genes CARD15, ATG16L1, and IRGM all have important roles in host-microbial responses;including sensing of microbial;products, ..
  48. Thirumala Devi Kanneganti; Fiscal Year: 2016
    ..Intriguingly, our studies suggest that another NLR family member, Nlrc2, and its adaptor, Ripk2, affect inflammasome activation and downstream production of IL-1??and IL-18...
  49. Ramnik J Xavier; Fiscal Year: 2014
    ..and Colitis Area Registry, an inception cohort in Rhode Island) to enroll subjects with ATG16L1, IRGM, and NOD2 disease-associated variants, as well as healthy individuals with and without these risk alleles...
  50. HPEPT1 IN INTESTINAL INFLAMMATION
    Didier Merlin; Fiscal Year: 2009
    ..g., NOD2) that mediate intracellular recognition of microbes and their products...
  51. John P Cooke; Fiscal Year: 2015
    ..Project 1: Novel Regulators to enhance IPSC Derivation and Differentiation to EC (Helen Blau, Wing Wong)...
  52. Molecular and cellular characterization of host response pathways triggered by va
    Sunny Shin; Fiscal Year: 2010
    ..This T4SS-dependent host response is distinct from TLR, Nod1, Nod2, and inflammasome signaling...
  53. Autophagy and Nod2 Function in Crohn's Disease
    CHRISTINE L MCDONALD; Fiscal Year: 2013
    ..This gene is NOD2 (nucleotide-binding, oligomerization domain 2), which encodes an intracellular sensor of bacteria in the innate ..
  54. Gabriel Nunez; Fiscal Year: 2016
    ..More than 70 genes have been shown to regulate the susceptibility to CD. Genetic variation in the Nod2 gene is, of all genetic loci identified, the mot strongly associated with risk for developing CD...
  55. MICHELLE ALICE KELLIHER; Fiscal Year: 2016
    ..related Rip1 protein Rip2 find endogenous Rip2 polyubiquitinated in MDP-stimulated macrophages, suggesting that the Nod2 pathway is ubiquitin-regulated...
  56. Jianzhong Hu; Fiscal Year: 2015
    ..Over 70 susceptibility loci, particularly immune response genes such as NOD2/CARD15, IRGM and ATG16L1, have been associated with CD risk in individuals of European ancestry...
  57. BEVERLY J TOROK-STORB; Fiscal Year: 2015
    ..For this purpose Drs Blau and Emery will use signaling molecule derivatives that can be activated in response to small molecule drugs called ..
  58. Molecular and cellular characterization of host response pathways triggered by va
    Sunny Shin; Fiscal Year: 2012
    ..This T4SS-dependent host response is distinct from TLR, Nod1, Nod2, and inflammasome signaling...
  59. The Role of NEMO Ubiquitination in EDA-ID
    Derek W Abbott; Fiscal Year: 2012
    ..NF:B signaling, and NEMO, itself, is K63-polyubiquitinated on two sites in response to innate immune stimulation (NOD2 (Crohn's Disease-susceptibility protein) and Toll-like Receptor (TLR) activation)...
  60. Molecular Etiology of Familial Mediterranean Fever
    Deborah Gumucio; Fiscal Year: 2007
    ..family members have already been connected to several human diseases, including inflammatory bowel disease, PAPA syndrome, Muckle-Wells sydrome, familial cold urticaria, Blau syndrome and Be_het's disease.
  61. The Role of Nod1 and Nod2 in the Pathogeneisis of Legionella Pneumophila Pneumoni
    William Richard Berrington; Fiscal Year: 2012
    ..proposal is focused on the role of intracellular Nucleotide Oligermerization Domain (NOD)-like receptors, Nodi and Nod2, in the detection of and protection from Legionella pneumophila (Lp) pneumonia, an important cause of community ..
  62. NOD2 and Uveitis
    HOLLY LALLMAN ROSENZWEIG; Fiscal Year: 2012
    ..However, a recently identified gene called NOD2 provides important insight into the genetics involved in the pathogenesis of uveitis...
  63. Host subversion by E. coli O157:H7 effector proteins
    PHILIP ROSS HARDWIDGE; Fiscal Year: 2010
    ..The specific aims of this project are to 1) Identify the EHEC effector protein responsible for reducing Nod2 abundance in intestinal epithelial cells and characterize the mechanism through which it acts, and 2) Characterize ..
  64. Hannele Ruohola-Baker; Fiscal Year: 2016
    ..Each of the projects interacts extensively with at least two of the other Projects and Cores. Project 1 (Blau) will dissect the molecular basis of stem cell quiescence using novel in vivo and in vitro models...
  65. HLA-B27 and Experimental Spondyloarthropathy
    JOEL TAUROG; Fiscal Year: 2009
    ..B27 itself, or the subsequent UPR: [1] alters bacterial sensing by Toll-like receptors or the IBD-associated Nod2 protein;[2] triggers one or more pathways that cause dysfunction of dendritic cells;[3] alters the pathways ..

Patents1

  1. Genes involved in intestinal inflammatory diseases and use thereof
    Patent Number: WO0172822-A2; Date:2001-10-04