Search results for "GENOME"

showing 10 items of 1913 documents

Metagenomic Analysis of Crohn's Disease Patients Identifies Changes in the Virome and Microbiome Related to Disease Status and Therapy, and Detects P…

2015

Background The aim of this study was to survey the bacterial and viral communities in different types of samples from patients with Crohn's disease (CD) at different stages of the disease to relate their distribution with the origin and progression of this disorder. Methods A total of 42 fecal samples and 15 biopsies from 20 patients with CD and 20 healthy control individuals were collected for bacterial 16S rRNA gene profiling and DNA/RNA virome metagenomic analysis through 454 pyrosequencing. Their composition, abundance, and diversity were analyzed, and comparisons of disease status, patient status, and sample origin were used to determine statistical differences between the groups. Resu…

AdultDNA BacterialMaleAdolescentDiseaseBiologyBioinformaticsBacterial geneticsFecesYoung AdultCrohn DiseaseRNA Ribosomal 16SmedicineImmunology and AllergyHumansHuman viromeMicrobiomeCrohn's diseaseMicrobiotaGastroenterologyCase-control studyMiddle Agedmedicine.diseaseMetagenomicsCase-Control StudiesImmunologyDNA ViralPyrosequencingMetagenomeFemaleMetagenomicsPolymorphism Restriction Fragment LengthInflammatory bowel diseases
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Genomic analysis of the emergence and evolution of multidrug resistance during a Klebsiella pneumoniae outbreak including carbapenem and colistin res…

2014

et al.

AdultDNA BacterialMaleMicrobiology (medical)CarbapenemAntibiotic resistanceKlebsiella pneumoniaeMolecular Sequence DataNonsense mutationFosfomycinDisease OutbreaksMicrobiologyEvolution MolecularPlasmidAntibiotic resistanceMutation RateOutbreak genomicsmedicineHumansPharmacology (medical)AgedPharmacologyGeneticsbiologyColistinHypermutationSequence Analysis DNAMiddle Agedbiochemical phenomena metabolism and nutritionbiology.organism_classificationDrug Resistance MultipleAnti-Bacterial AgentsKlebsiella InfectionsMultiple drug resistanceKlebsiella pneumoniaeInfectious DiseasesCarbapenemsKlebsiella pneumoniae genomeColistinbacteriaFemaleGenome Bacterialmedicine.drugJournal of Antimicrobial Chemotherapy
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Daily follow-up of bacterial communities in the human gut reveals stable composition and host-specific patterns of interaction

2012

In the last decade, an extensive effort has been made to characterize the human intestinal microbiota by means of SSU rRNA gene sequence and metagenomic analysis. Relatively few studies have followed intestinal bacterial communities over time to assess their stability in the absence of perturbation. In this study, we have monitored the faecal bacteria of three healthy subjects during 15 consecutive days. The global community structure was analysed through SSU rRNA gene sequencing. In agreement with previous studies, we found that the between-subject variation in community structure was larger than within. The composition was fairly stable throughout, although daily fluctuations were detecte…

AdultDNA BacterialMaleTime FactorsZoologyApplied Microbiology and BiotechnologyMicrobiologyMicrobiologyFecesRNA Ribosomal 16SHumansFaecal bacteriaHost specificFecesPhylotypeModels StatisticalBacteriaEcologybiologyCommunity structureSequence Analysis DNAbiology.organism_classification16S ribosomal RNAIntestinesMetagenomicsMultivariate AnalysisMetagenomeBacteriaFEMS Microbiology Ecology
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DNA methylation patterns in newborns exposed to tobacco in utero

2015

[Background] Maternal smoking during pregnancy is a major risk factor for adverse health outcomes. The main objective of the study was to assess the impact of in utero tobacco exposure on DNA methylation in children born at term with appropriate weight at birth.

AdultEpigenomicsMothersPhysiologyBiologyGeneral Biochemistry Genetics and Molecular BiologyEpigenesis GeneticAdrenomedullinYoung Adultchemistry.chemical_compoundPregnancyRisk FactorsTobaccoCluster AnalysisHumansAdrenomedullin geneEpigeneticsNewbornsEpigenomicsMedicine(all)ImmunoassayDNA methylationBiochemistry Genetics and Molecular Biology(all)ResearchInfant NewbornGeneral MedicineMethylationFetal BloodGene Expression RegulationchemistryCpG siteMaternal ExposureIn uteroImmunologyDNA methylationCpG IslandsFemaleTobacco Smoke PollutionCotinineGenome-Wide Association StudyDNA hypomethylationJournal of Translational Medicine
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Genetic alterations and oxidative metabolism in sporadic colorectal tumors from a Spanish community

1997

Deletions of loci on chromosomes 5q, 17p, 18q, and 22q, together with the incidence of p53 mutations and amplification of the double minute-2 gene were investigated in the sporadic colorectal tumors of 44 patients from a Spanish community. Chromosome deletions were analyzed by means of loss of heterozygosity analysis using a restriction fragment length polymorphism assay. Allelic losses were also detected by polymerase chain reaction (PCR)-single-stranded conformation polymorphism (SSCP) analysis of a polymorphic site in intron 2 of the p53 gene. The percentages of genetic deletions on the screened chromosomes were 39.3% (5q), 58.3% (17p), 40.9% (18q), and 40% (22q). Mutations in p53 exons …

AdultGenetic MarkersMaleGenome instabilityHeterozygoteLipid PeroxidesCancer ResearchChromosomes Human Pair 22DNA Mutational AnalysisAdenocarcinomaBiologymedicine.disease_causeLoss of heterozygosityProto-Oncogene ProteinsGene duplicationmedicineHumansMolecular BiologyGenePolymorphism Single-Stranded ConformationalAgedSequence DeletionGene AmplificationDeoxyguanosineNuclear ProteinsProto-Oncogene Proteins c-mdm2Single-strand conformation polymorphismDNA NeoplasmMiddle AgedGenes p53GlutathioneMolecular biology8-Hydroxy-2'-DeoxyguanosineChromosomes Human Pair 1SpainGenetic markerChromosomes Human Pair 5FemaleRestriction fragment length polymorphismChromosomes Human Pair 18Colorectal NeoplasmsCarcinogenesisOxidation-Reduction
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Genome-wide Association Study of Alcohol Dependence

2009

Context Alcohol dependence is a serious and common public health problem. It is well established that genetic factors play a major role in the development of this disorder. Identification of genes that contribute to alcohol dependence will improve our understanding of the mechanisms that underlie this disorder. Objective To identify susceptibility genes for alcohol dependence through a genome-wide association study (GWAS) and a follow-up study in a population of German male inpatients with an early age at onset. Design The GWAS tested 524 396 single-nucleotide polymorphisms (SNPs). All SNPs with P −4 were subjected to the follow-up study. In addition, nominally significant SNPs from genes t…

AdultGenetic MarkersMaleGenotypeGenetic LinkagePopulationContext (language use)Single-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single NucleotideGenetic determinismArticleAlcohol Withdrawal DeliriumYoung AdultArts and Humanities (miscellaneous)Genetic linkageAnimalsHumansAlleleAge of OnseteducationAllelesGeneticseducation.field_of_studyGene Expression ProfilingAlcohol dependenceAlcohol DehydrogenasePutamenRats Inbred StrainsAmygdalaCadherinsRatsHospitalizationPsychiatry and Mental healthAlcoholismPhenotypeGene Expression RegulationCase-Control StudiesChromosomes Human Pair 2Caudate NucleusLod ScoreFollow-Up StudiesGenome-Wide Association Study
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Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study.

2012

Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be characterized by karyotype. In many prenatal cases of de novo sSMC, the outcome of pregnancy is difficult to predict because the euchromatin content is unclear. This study aimed to determine the presence or absence of euchromatin material of 39 de novo prenatally ascertained sSMC by array-comparative genomic hybridization (array-CGH) or single nucleotide polymorphism (SNP) array. Cases were prospectively ascertained from the study of 65,000 prenatal samples [0.060%; 95% confidence interval (CI), 0.042-0.082]. Array-CGH showed that 22 markers were derived from non-acrocentric markers (56.4%) a…

AdultGenetic MarkersRiskEuchromatinKaryotypeContext (language use)Prenatal diagnosisSingle-nucleotide polymorphismGenetic CounselingBiologyPolymorphism Single NucleotideYoung AdultPregnancyPrenatal DiagnosisGeneticsmedicineSNPHumansGenetic Predisposition to DiseaseProspective StudiesGenetics (clinical)Genetic Association StudiesIn Situ Hybridization FluorescenceGeneticsChromosome AberrationsComparative Genomic Hybridizationmedicine.diagnostic_testKaryotypeMiddle AgedPrognosisMolecular biologyFemaleFranceSwitzerlandSNP arrayFluorescence in situ hybridizationGenome-Wide Association StudyClinical genetics
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Genome-wide analysis reveals DNA methylation markers that vary with both age and obesity

2014

AbstractThe combination of the obesity epidemic and an aging population presents growing challenges for the healthcare system. Obesity and aging are major risk factors for a diverse number of diseases and it is of importance to understand their interaction and the underlying molecular mechanisms. Herein the authors examined the methylation levels of 27578 CpG sites in 46 samples from adult peripheral blood. The effect of obesity and aging was ascertained with general linear models. More than one hundred probes were correlated to aging, nine of which belonged to the KEGG group map04080. Additionally, 10 CpG sites had diverse methylation profiles in obese and lean individuals, one of which wa…

AdultGenetic Markersmedicine.medical_specialtyAgingAlpha-Ketoglutarate-Dependent Dioxygenase FTOGenome-wide association studyBiologyMicroarrayBioinformaticsEpigenesis GeneticGeneticsmedicineHumansEpigeneticsObesityKEGGTelomeraseAgedMedicinsk genetikGeneticsProteinsGeneral MedicineMethylationDNA MethylationMiddle Agedmedicine.diseaseObesityCpG siteDNA methylationMedical geneticsCpG IslandsFemaleEpigeneticsMedical GeneticsGenome-Wide Association Study
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Update on autoimmune hepatitis

2009

Autoimmune hepatitis (AIH) is a necroinflammatory liver disease of unknown etiology that occurs in children and adults of all ages. Characteristics are its autoimmune features, hyperglobulinemia (IgG), and the presence of circulating autoantibodies, as well as a response to immunosuppressant drugs. Current treatment consists of prednisone and azathioprine and in most patients this disease has become very treatable. Over the past 2 years, a couple of new insights into the genetic aspects, clinical course and treatment of AIH have been reported, which will be the focus of this review. In particular, we concentrate on genome-wide microsatellite analysis, a novel mouse model of AIH, the evaluat…

AdultHyperglobulinemiaAzathioprineAutoimmune hepatitisDiseaseAntibodiesLiver diseaseLife ExpectancyAdrenal Cortex Hormonesimmune system diseasesPrednisonemedicineHumansSurvivorsChildHepatitisGenome Humanbusiness.industryHistocompatibility Antigens Class IHistocompatibility Antigens Class IIThyroiditis AutoimmuneGastroenterologyAutoantibodyDNAGeneral Medicinemedicine.diseasedigestive system diseasesHepatitis AutoimmuneEditorialImmunoglobulin GImmunologybusinessImmunosuppressive AgentsMicrosatellite Repeatsmedicine.drugWorld Journal of Gastroenterology
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Genome-based in silico identification of new Mycobacterium tuberculosis antigens activating polyfunctional CD8+ T cells in human tuberculosis.

2011

Although CD8(+) T cells help control Mycobacterium tuberculosis infection, their M. tuberculosis Ag repertoire, in vivo frequency, and functionality in human tuberculosis (TB) remains largely undefined. We have performed genome-based bioinformatics searches to identify new M. tuberculosis epitopes presented by major HLA class I supertypes A2, A3, and B7 (covering 80% of the human population). A total of 432 M. tuberculosis peptides predicted to bind to HLA-A*0201, HLA-A*0301, and HLA-B*0702 (representing the above supertypes) were synthesized and HLA-binding affinities determined. Peptide-specific CD8(+) T cell proliferation assays (CFSE dilution) in 41 M. tuberculosis-responsive donors ide…

AdultIntracellular FluidMaleTuberculosisT cellImmunologyEpitopes T-LymphocyteHuman leukocyte antigenCD8-Positive T-LymphocytesLymphocyte ActivationEpitopeTuberculosis CD8 T cells cytokinesMycobacterium tuberculosis03 medical and health sciencesAntigenifn-gamma protective efficacy binding-affinity dormancy regulon subunit vaccine transgenic mice hla-b epitopes infection responsesPredictive Value of TestsmedicineImmunology and AllergyCytotoxic T cellHumansTuberculosis030304 developmental biologyAged0303 health sciencesAntigens Bacterialbiology030306 microbiologyGenome HumanComputational BiologyMycobacterium tuberculosisMiddle Agedbiology.organism_classificationmedicine.diseaseVirology3. Good healthmedicine.anatomical_structureFemaleCD8Genome BacterialJournal of immunology (Baltimore, Md. : 1950)
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