Search results for "Nod2 Signaling Adaptor Protein"

showing 9 items of 9 documents

Enterococcus hirae and Barnesiella intestinihominis Facilitate Cyclophosphamide-Induced Therapeutic Immunomodulatory Effects.

2016

International audience; The efficacy of the anti-cancer immunomodulatory agent cyclophosphamide (CTX) relies on intestinal bacteria. How and which relevant bacterial species are involved in tumor immunosurveillance, and their mechanism of action are unclear. Here, we identified two bacterial species, Enterococcus hirae and Barnesiella intestinihominis that are involved during CTX therapy. Whereas E. hirae translocated from the small intestine to secondary lymphoid organs and increased the intratumoral CD8/ Treg ratio, B. intestinihominis accumulated in the colon and promoted the infiltration of IFN-gamma-producing gamma delta Tau cells in cancer lesions. The immune sensor, NOD2, limited CTX…

0301 basic medicineRichnessNod2 Signaling Adaptor Proteinmedicine.disease_causeMice0302 clinical medicineEnterococcus hiraeNOD2NeoplasmsIntestine Small[ SDV.IMM ] Life Sciences [q-bio]/ImmunologyImmunology and AllergyGut MicrobiotaCancerbiology3. Good healthImmunosurveillanceInfectious Diseases030220 oncology & carcinogenesisBarnesiella intestinihominis[SDV.IMM]Life Sciences [q-bio]/ImmunologyImmunotherapymedicine.symptomInfectionmedicine.drugCyclophosphamideColonImmunologyTranslocationInflammation03 medical and health sciencesInterferon-gammaImmune systemMonitoring ImmunologicmedicineAnimalsImmunologic FactorsCyclophosphamideInflammationEnterococcus hiraeAntitumor ImmunityBacteriaDendritic CellsTh1 Cellsmedicine.diseasebiology.organism_classificationMice Inbred C57BL030104 developmental biologyIntestinal MicrobiotaImmunologyOvarian cancerImmunologic MemoryImmunity
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Replication of interleukin 23 receptor and autophagy-related 16-like 1 association in adult- and pediatric-onset inflammatory bowel disease in Italy.

2008

AIM: 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. METHODS: Total of 763 patients with Crohn's disease (CD, 189 diagnosed at age < 19 years), 843 with ulcerative colitis (UC, 179 diagnosed < 19 years), 749 healthy controls, and 546 healthy parents (273 trios) were included in the study. The rs2241880 [autophagy-related 16-like 1 (ATG16L1)], rs11209026 and rs7517847 [interleukin 23 receptor (IL23R)], rs2066844, rs2066845, rs2066847 (CARD15), rs1050152 (OCTN1), and rs2631367 (OCTN2) gene variants were genotyped. RESULTS: The f…

AdultMaleInterleukin-23 receptorAdolescentGenotypeOrganic Cation Transport ProteinsIBDNod2 Signaling Adaptor ProteinAutophagy-Related Proteinsdigestive systemPolymorphism Single NucleotideInflammatory bowel diseaseYoung AdultSettore MED/38 - Pediatria Generale E SpecialisticaCrohn DiseaseIL23RClinical ResearchmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseAge of OnsetYoung adultChildSolute Carrier Family 22 Member 5ReceptorAgedCrohn's diseaseSymportersbusiness.industryGastroenterologyInfantReceptors InterleukinGeneral MedicineMiddle AgedInflammatory Bowel Diseasesmedicine.diseaseUlcerative colitisdigestive system diseasesLogistic ModelsItalyCase-Control StudiesChild PreschoolImmunologyFemaleAge of onsetCarrier Proteinsbusiness
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DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population

2005

Introduction: Recent data have suggested that specific haplotypic variants of the DLG5 gene on chromosome 10q23 may be associated with susceptibility to inflammatory bowel disease (IBD) in Germany. Haplotype D, notably characterised by the presence of a G→A substitution at nucleotide 113, was associated with susceptibility to Crohn’s disease (CD) whereas an extended haplotype A conferred protection. Aims: Association of DLG5 haplotypic variants with disease susceptibility, genotype-phenotype relationships, and epistasis with CARD15 was investigated in the Scottish population. Patients and methods: A total of 374 CD, 305 ulcerative colitis (UC), and 294 healthy controls (HC) were studied. Ge…

AdultMaleLetterGenotypePopulationNod2 Signaling Adaptor ProteinSingle-nucleotide polymorphismBiologyInflammatory bowel diseaseLoss of heterozygosityCrohn DiseaseGene FrequencyGenotypemedicineHumansGenetic Predisposition to DiseaseeducationGenotypingAllele frequencyGeneticseducation.field_of_studyTumor Suppressor ProteinsInflammatory Bowel DiseaseHaplotypeGastroenterologyIntracellular Signaling Peptides and ProteinsMembrane ProteinsEpistasis GeneticMiddle Agedmedicine.diseaseInflammatory Bowel Diseasesdigestive system diseasesPhenotypeHaplotypesScotlandImmunologyColitis UlcerativeFemale
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Variants of CARD15 are associated with an aggressive clinical course of Crohn's Disease. An IG-IBD Study

2005

Three major variants of the CARD15 gene confer susceptibility to Crohn's disease (CD). Whether or not these variants correlate with specific clinical features of the disease is under evaluation.We investigated the possible association of CARD15 variants with specific clinical characteristics, including the occurrence of anti-Saccharomyces cerevisiae antibodies (ASCA) and antineutrophil cytoplasmic antibodies (ANCA), in a large cohort of inflammatory bowel disease (IBD) patients and their unaffected relatives.Three hundred and sixteen CD patients (156 with positive family history), 408 ulcerative colitis (UC) patients (206 with positive family history), 588 unaffected relatives, and 205 unre…

AdultMaleNod2 Signaling Adaptor Proteindigestive systemCrohn DiseaseGene FrequencyHumansMedicineSettore MED/12 - GastroenterologiaCrohn's diseaseHepatologybiologyCrohn diseasebusiness.industryIntracellular Signaling Peptides and ProteinsGastroenterologyClinical courseMiddle Agedmedicine.diseasedigestive system diseasesPhenotypeItalyCase-Control StudiesMutationImmunologybiology.proteinColitis UlcerativeFemaleAntibodybusinessFollow-Up Studies
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The role of CARD15 mutations and smoking in the course of Crohn's disease in a Mediterranean area.

2008

To evaluate the role of CARD15 mutations and smoking in the main events of Crohn's disease (CD).A total of 182 patients with CD were included in a prospective study in order to evaluate the role of CARD15 mutations and smoking in the main outcomes of disease course: first operation and surgical recurrence. The following variables were evaluated in a univariable and multivariable analysis: age, sex, site of disease, pattern, smoking habit, extraintestinal manifestations, duration of disease, and CARD15 mutation. The Kaplan-Meier method for survival curves and Cox model for multivariable analysis were, respectively, used.A total of 110 patients were operated on and 32 were reoperated on. The …

AdultMaleReoperationmedicine.medical_specialtyPathologyGenotypeNod2 Signaling Adaptor ProteinDiseaseCrohn DiseaseRecurrenceInternal medicineMedicineHumansCrohn's diseaseHepatologybusiness.industryCrohn diseaseSmokingGastroenterologymedicine.diseasePrognosisdigestive system diseasesMutation (genetic algorithm)MutationMediterranean areaFemalebusinessThe American journal of gastroenterology
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Incidence of Crohn's disease and CARD15 mutation in a small township in Sicily.

2006

Background: The incidence of Crohn's disease (CD) has been shown to be lower in Southern than in Northern Europe. Data on the frequency of the NOD2/CARD15 mutations for Mediterranean area are very scant. Aim: To determine the incidence of CD from 1979 to 2002 in a township in Sicily together with the allele frequency of NOD2/CARD15 mutations in patients, family members and controls, and to determine the allele frequency of these mutations in sporadic CD from other areas of Sicily in comparison with a control population. Methods: Casteltermini is a small town close to Agrigento (Sicily) with a population of 9,130 inhabitants. All the diagnoses of inflammatory bowel disease (IBD) made from 19…

AdultMalemedicine.medical_specialtyPathologyAdolescentEpidemiologyPopulationNod2 Signaling Adaptor ProteinInflammatory bowel diseaseGastroenterologyCrohn DiseaseGene FrequencyInternal medicineEpidemiologyPrevalencemedicineHumansGenetic Predisposition to DiseaseRisk factoreducationAllele frequencySicilyNOD2/CARD15Crohn's diseaseeducation.field_of_studybusiness.industryIncidence (epidemiology)IncidenceMiddle Agedmedicine.diseaseUlcerative colitisdigestive system diseasesCrohn's diseaseMutationColitis UlcerativeFemalebusinessEuropean journal of epidemiology
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Frequency of NOD2/CARD15 variants in both sporadic and familial cases of Crohn's disease across Italy. An Italian Group for Inflammatory Bowel Diseas…

2004

Abstract Background. Three variants of the NOD 2 /CARD 15 gene are strongly associated with susceptibility to Crohn’s disease; however, striking racial and geographic differences of their frequency have been described. Aims. We have compared the allele frequencies of familial cases of Crohn’s disease recruited in a multicentre study across Italy, in order to disclose possible geographic heterogeneity. Moreover, we also compared the allele frequencies in sporadic cases of Crohn’s disease and healthy controls from Southern Italy with those reported in other two populations from Central and Northern Italy. Subjects and Methods. A total of 731 subjects were genotyped for the polymorphism of thr…

AdultMalemedicine.medical_specialtyPathologyGenotypeNod2 Signaling Adaptor ProteinDiseaseInflammatory bowel diseaseGastroenterologyInflammatory bowel diseaseNOD2Frameshift mutationGeneticCrohn DiseaseGene FrequencyPolymorphism (computer science)NOD2Internal medicineMedicineHumansGenetic Predisposition to DiseaseCARD15Frameshift MutationAllele frequencyAgedCrohn's diseasePolymorphism GeneticHepatologybusiness.industrySignificant differenceGastroenterologyIntracellular Signaling Peptides and ProteinsMiddle Agedmedicine.diseaseCrohn's diseaseItalyFemalebusinessCarrier Proteins
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Genotype and Allele Frequencies of Drug-Metabolizing Enzymes and Drug Transporter Genes Affecting Immunosuppressants in the Spanish White Population

2013

Interpatient variability in drug response can be widely explained by genetically determined differences in metabolizing enzymes, drug transporters, and drug targets, leading to different pharmacokinetic and/or pharmacodynamic behaviors of drugs. Genetic variations affect or do not affect drug responses depending on their influence on protein activity and the relevance of such proteins in the pathway of the drug. Also, the frequency of such genetic variations differs among populations, so the clinical relevance of a specific variation is not the same in all of them. In this study, a panel of 33 single nucleotide polymorphisms in 14 different genes (ABCB1, ABCC2, ABCG2, CYP2B6, CYP2C19, CYP2C…

GenotypeCYP2B6Nod2 Signaling Adaptor ProteinOrganic Anion TransportersSingle-nucleotide polymorphismCYP2C19PharmacologyPolymorphism Single NucleotideWhite PeopleCytochrome P-450 Enzyme SystemGene FrequencyGenetic variationGenotypeHumansPharmacology (medical)ATP Binding Cassette Transporter Subfamily B Member 1GlucuronosyltransferaseAllele frequencyCYP2C9Methylenetetrahydrofolate Reductase (NADPH2)PharmacologyGeneticsbiologyMethyltransferasesMultidrug Resistance-Associated Protein 2Tissue DonorsTransplant RecipientsSpainInactivation MetabolicUDP-Glucuronosyltransferase 1A9biology.proteinSLCO1B1Immunosuppressive AgentsTherapeutic Drug Monitoring
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Transplanting the genetic susceptibility to Crohn’s disease

2003

Susceptibility to Crohn’s disease may be transferred via haematopoietic stem cells, highlighting the pivotal role of genetic factors in the pathogenesis of Crohn’s disease Crohn’s disease (CD) is one of the two most common forms of inflammatory bowel disease (IBD). The prevalence of CD has increased in Western countries over the past decades and mainly young patients are affected, with a peak incidence between 15 and 35 years.1 The aetiology of IBD is still unclear and should be considered as multifactorial according to recent studies.2 Genetic factors seem to play a pathogenic role as well as environmental, infectious, and immunological factors. All of these different aetiological aspects …

Nod2 Signaling Adaptor ProteinCase ReportBiologyInflammatory bowel diseaseProinflammatory cytokinePathogenesisImmune systemCrohn DiseasemedicineGenetic predispositionHumansGenetic Predisposition to DiseaseCrohn's diseasePolymorphism GeneticGastroenterologyIntracellular Signaling Peptides and ProteinsT helper cellT-Lymphocytes Helper-Inducermedicine.diseaseHodgkin Diseasedigestive system diseasesmedicine.anatomical_structureImmunologyCommentaryStem cell5' Untranslated RegionsCarrier ProteinsStem Cell Transplantation
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