Search results for " genomi"

showing 10 items of 572 documents

Inference of the Life Cycle of Environmental Phages from Genomic Signature Distances to Their Hosts

2023

The environmental impact of uncultured phages is shaped by their preferred life cycle (lytic or lysogenic). However, our ability to predict it is very limited. We aimed to discriminate between lytic and lysogenic phages by comparing the similarity of their genomic signatures to those of their hosts, reflecting their co-evolution. We tested two approaches: (1) similarities of tetramer relative frequencies, (2) alignment-free comparisons based on exact k = 14 oligonucleotide matches. First, we explored 5126 reference bacterial host strains and 284 associated phages and found an approximate threshold for distinguishing lysogenic and lytic phages using both oligonucleotide-based methods. The an…

BiologiaInfectious DiseasesVirologygenomic signatures; bacteriophages; lytic phages; lysogenic phages; single-cell genomicsViruses; Volume 15; Issue 5; Pages: 1196
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Array CGH defined interstitial deletion on chromosome 14: a new case

2009

Interstitial deletions of the long arm of chromosome 14 are relatively rare. We report a 8.5-year-old girl with dysmorphic facial features and mental retardation associated with a de novo interstitial deletion of chromosome 14. The comparison between our patient and all published patients is reviewed. The genetic investigations have allowed us to define the critical chromosomal region and to start an accurate follow-up.

BiologyLong armSettore MED/38 - Pediatria Generale E SpecialisticaIntellectual DisabilitymedicineHumansAbnormalities MultipleDysmorphic facial featuresChildIn Situ Hybridization FluorescenceOligonucleotide Array Sequence AnalysisChromosomes Human Pair 14GeneticsComparative Genomic HybridizationPsychomotor retardationChromosomeFacePediatrics Perinatology and Child HealthChromosomal regionFish <Actinopterygii>FemaleChromosome 14 interstitial deletion . Psychomotor retardation . FISH . Array CGHChromosome DeletionPsychomotor Disordersmedicine.symptomPsychomotor disorderComparative genomic hybridizationEuropean Journal of Pediatrics
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Functional Genomics of 5-to 8-Cell Stage Human Embryos by Blastomere Single-Cell cDNA Analysis

2010

Blastomere fate and embryonic genome activation (EGA) during human embryonic development are unsolved areas of high scientific and clinical interest. Forty-nine blastomeres from 5- to 8-cell human embryos have been investigated following an efficient single-cell cDNA amplification protocol to provide a template for high-density microarray analysis. The previously described markers, characteristic of Inner Cell Mass (ICM) (n = 120), stemness (n = 190) and Trophectoderm (TE) (n = 45), were analyzed, and a housekeeping pattern of 46 genes was established. All the human blastomeres from the 5- to 8-cell stage embryo displayed a common gene expression pattern corresponding to ICM markers (e.g., …

BlastomeresDNA ComplementaryScienceCell Biology/Developmental Molecular MechanismsBiologyDevelopmental Biology/Molecular DevelopmentmedicineHumansInner cell massHuman embryogenesisBlastocystCell Biology/Gene ExpressionOligonucleotide Array Sequence AnalysisDevelopmental Biology/EmbryologyMultidisciplinaryMicroarray analysis techniquesGene Expression ProfilingGenetics and Genomics/Functional GenomicsQRGenetics and Genomics/Gene ExpressionEmbryoGenomicsBlastomereGenetics and Genomics/BioinformaticsMolecular biologyEmbryonic stem cellDevelopmental Biology/Stem CellsGene expression profilingmedicine.anatomical_structureembryonic structuresMedicineResearch Article
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An initial comparative map of copy number variations in the goat (Capra hircus) genome

2010

Abstract Background The goat (Capra hircus) represents one of the most important farm animal species. It is reared in all continents with an estimated world population of about 800 million of animals. Despite its importance, studies on the goat genome are still in their infancy compared to those in other farm animal species. Comparative mapping between cattle and goat showed only a few rearrangements in agreement with the similarity of chromosome banding. We carried out a cross species cattle-goat array comparative genome hybridization (aCGH) experiment in order to identify copy number variations (CNVs) in the goat genome analysing animals of different breeds (Saanen, Camosciata delle Alpi,…

BreedingGenomePolymerase Chain ReactionSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoMOUSE STRAINSChromosome regionsCapra hircusGOATCopy-number variationANGORA-GOATSGENE-EXPRESSIONGenetics0303 health sciencesComparative Genomic HybridizationGenomeGoatsChromosome Mapping04 agricultural and veterinary sciencesBovine genomeDatabases Nucleic AcidBiotechnologyResearch Articlelcsh:QH426-470DNA Copy Number VariationsSEGMENTAL DUPLICATIONSlcsh:BiotechnologyMolecular Sequence DataBiologyFluorescenceStructural variationPRODUCTION TRAITSBirds03 medical and health sciencesFAMILY BOVIDAEGene mappinglcsh:TP248.13-248.65Sequence Homology Nucleic AcidGeneticsFINE-SCALEAnimalsHumansFalse Positive Reactions030304 developmental biologyCOPY NUMBER VARIATION0402 animal and dairy scienceReproducibility of Results040201 dairy & animal scienceChromosomes MammalianDNA-SEQUENCESSTRUCTURAL VARIATIONlcsh:GeneticsCANDIDATE LOCIcopy number variation goatsCattleComparative genomic hybridizationBMC Genomics
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miR-155 inhibition sensitizes CD4+ Th cells for TREG mediated suppression.

2009

BackgroundIn humans and mice naturally occurring CD4(+)CD25(+) regulatory T cells (nTregs) are a thymus-derived subset of T cells, crucial for the maintenance of peripheral tolerance by controlling not only potentially autoreactive T cells but virtually all cells of the adaptive and innate immune system. Recent work using Dicer-deficient mice irrevocably demonstrated the importance of miRNAs for nTreg cell-mediated tolerance.Principal findingsDNA-Microarray analyses of human as well as murine conventional CD4(+) Th cells and nTregs revealed a strong up-regulation of mature miR-155 (microRNA-155) upon activation in both populations. Studying miR-155 expression in FoxP3-deficient scurfy mice …

CD4-Positive T-LymphocytesScienceImmunology/ImmunomodulationBiologyModels BiologicalT-Lymphocytes RegulatoryImmune tolerancemiR-155MiceDownregulation and upregulationImmune ToleranceAnimalsHumansIL-2 receptorOligonucleotide Array Sequence AnalysisMultidisciplinaryInnate immune systemGenetics and Genomics/Functional GenomicsQInterleukin-2 Receptor alpha SubunitRPeripheral toleranceFOXP3Forkhead Transcription FactorsTransfectionImmunity InnateCell biologyUp-RegulationKineticsMicroRNAsImmunologyImmunology/Immune ResponseMedicineGenetics and Genomics/Genetics of the Immune SystemResearch ArticlePLoS ONE
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Triglyceride-rich lipoproteins and their remnants: metabolic insights, role in atherosclerotic cardiovascular disease, and emerging therapeutic strat…

2021

Abstract Recent advances in human genetics, together with a large body of epidemiologic, preclinical, and clinical trial results, provide strong support for a causal association between triglycerides (TG), TG-rich lipoproteins (TRL), and TRL remnants, and increased risk of myocardial infarction, ischaemic stroke, and aortic valve stenosis. These data also indicate that TRL and their remnants may contribute significantly to residual cardiovascular risk in patients on optimized low-density lipoprotein (LDL)-lowering therapy. This statement critically appraises current understanding of the structure, function, and metabolism of TRL, and their pathophysiological role in atherosclerotic cardiova…

CHOLESTERYL ESTER TRANSFERTO-MODERATE HYPERTRIGLYCERIDEMIALipoprotein remnants030204 cardiovascular system & hematologyBioinformaticsResidual riskBrain Ischemiachemistry.chemical_compoundVoeding Metabolisme en Genomica0302 clinical medicineIschaemic strokeAcademicSubjects/MED00200Myocardial infarctionLOW-GRADE INFLAMMATIONALL-CAUSE MORTALITY[SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism0303 health sciencesAtherosclerotic cardiovascular diseasedigestive oral and skin physiology[SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolismCardiovascular diseaseMetabolism and Genomics3. Good healthStrokeLOW-DENSITY LIPOPROTEINSCardiovascular DiseasesMetabolisme en GenomicaCORONARY-ARTERY-DISEASENutrition Metabolism and GenomicsCardiology and Cardiovascular MedicineB-CONTAINING LIPOPROTEINSLipoproteinsTriglyceride-rich lipoproteinsHEART-DISEASE03 medical and health sciencesSpecial ArticleVoedingmedicineHumansHOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIATriglycerides030304 developmental biologyNutritionVLAGTriglyceridebusiness.industryAPO-Bmedicine.diseaseAtherosclerosisResidual riskIncreased riskchemistry3121 General medicine internal medicine and other clinical medicineEuropean atherosclerosis societybusinessLipoprotein
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RECONSTRUCTION OF GENOMIC REARRANGEMENTS IN AFRICAN DORMICE (RODENTIA-GLIRIDAE) BY CROSS-SPECIES CHROMOSOME PAINTING AND HUMAN SYNTENIC ASSOCIATION A…

2008

ABSTRACT

COMPARATIVE GENOMICS PRIMATE/RODENTIACHROMOSOME PAINTING PHYLOGENY CHROMOSOME PAINTING DORMICE GRAPHIURINAE COMPARATIVE CYTOGENETICSSettore BIO/08 - Antropologia
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A Comparative Analysis of Copy Number Variation of the Sheep and Goat Genomes

2010

Recent studies have shown that copy number variants (CNVs) are important sources of variability of mammalian genomes. We applied a cross species array comparative genome hybridization (aCGH) experiment using as reference the cattle genome to investigate, for the first time, variability in the sheep and goat genomes derived from copy number variation and identified 431 and 358 CNVs, respectively. A comparison of these results to those obtained in other mammals for similar experiments is reported. The identified CNVs could be important in determining phenotypic and production differences between and within breeds. Further studies will be carried out to evaluate the identified CNVs from both f…

COMPARATIVE GENOMICSSettore AGR/17 - Zootecnica Generale E Miglioramento Geneticocongenital hereditary and neonatal diseases and abnormalitiescomparative analysis CNV sheep goatendocrine system diseasesSHEEPmental disordersGOATGENOMESCOPY NUMBER VARIATION
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Pattern of secondary genomic changes in pancreatic tumors ofTgfα/Trp53+/−transgenic mice

2003

Trp53+/− mice overexpressing Tgfα in a pancreas-specific manner represent a well-established animal model for pancreatic cancer. In this study we analyzed 38 pancreatic adenocarcinomas of these mice for secondary genomic changes by comparative genomic hybridization (CGH), loss of heterozygosity (LOH) analysis, real-time PCR, and methylation-specific analysis. CGH screening of the tumors revealed a recurrent pattern of genomic changes. In more than 50% of the tumors, chromosome 11 was affected. The gain of the proximal part spans about 16 cM, including the genes for Egfr, Rel, and Stk10. The distal part of chromosome 11, which contains the Trp53 locus, was deleted. LOH analysis proved that a…

Cancer ResearchLocus (genetics)Biologymedicine.diseaseMolecular biologyLoss of heterozygosityChromosome 15Chromosome 4CDKN2APancreatic cancerDNA methylationGeneticsmedicineComparative genomic hybridizationGenes, Chromosomes and Cancer
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Exon-level expression analyses identify MYCN and NTRK1 as major determinants of alternative exon usage and robustly predict primary neuroblastoma out…

2012

BACKGROUND: Using mRNA expression-derived signatures as predictors of individual patient outcome has been a goal ever since the introduction of microarrays. Here, we addressed whether analyses of tumour mRNA at the exon level can improve on the predictive power and classification accuracy of gene-based expression profiles using neuroblastoma as a model. METHODS: In a patient cohort comprising 113 primary neuroblastoma specimens expression profiling using exon-level analyses was performed to define predictive signatures using various machine-learning techniques. Alternative transcript use was calculated from relative exon expression. Validation of alternative transcripts was achieved using q…

Cancer ResearchMedizinComputational biologyBiologyexon arraysBioinformaticsN-Myc Proto-Oncogene ProteinExonNeuroblastomaRisk FactorsNeuroblastomaCell Line TumorGene expressionmedicineHumansRNA MessengerReceptor trkAGeneSurvival analysisOncogene ProteinsN-Myc Proto-Oncogene ProteinGene Expression ProfilingInfantNuclear ProteinsGenetics and GenomicspredictionExonsalternative transcript usemedicine.diseasePrognosisSurvival AnalysisGene expression profilingOncologyChild PreschoolPAMDNA microarray
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