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showing 10 items of 5782 documents

Genome-wide association studies for milk production traits in Valle del Belice sheep using repeated measures

2019

Genome-wide association studies (GWASes) have become a powerful tool for identifying genomic regions associated with important traits in livestock. Milk production traits in dairy sheep are measured at different time points during their life span. Using phenotypic data generated from longitudinal traits could improve the power of association studies but until now have received less attention in GWASes as a methodology and has not been implemented. The aim of this study was to carry out a GWAS for milk production traits in Valle del Belice sheep using repeated measures. After quality control, 469 ewes and 37 228 SNPs were retained for the analysis, and phenotypic data included 5586 test-day …

0301 basic medicineCandidate genes longitudinal traits single nucleotide polymorphismsSingle-nucleotide polymorphismGenome-wide association studyBiologyPolymorphism Single NucleotideCandidate genes03 medical and health sciencessingle nucleotide polymorphismslongitudinal traitSettore AGR/17 - Zootecnica Generale E Miglioramento GeneticoAnimal sciencesingle nucleotide polymorphismGeneticsAnimalsGeneSheep DomesticGenetic associationbusiness.industry0402 animal and dairy scienceRepeated measures designcandidate gene04 agricultural and veterinary sciencesGeneral MedicineMilk production040201 dairy & animal sciencePhenotypeMilk030104 developmental biologyFemaleLivestockAnimal Science and Zoologybusinesslongitudinal traitsGenome-Wide Association Study
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WNT signaling modulates PD-L1 expression in the stem cell compartment of triple-negative breast cancer

2019

Triple-negative breast cancers (TNBCs) are characterized by a poor prognosis and lack of targeted treatments, and thus, new therapeutic strategies are urgently needed. Inhibitors against programmed death-1 (PD-1)/PD-1 ligand (PD-L1) have shown significant efficacy in various solid cancers, but their activity against TNBCs remains limited. Here, we report that human TNBCs molecularly stratified for high levels of PD-L1 (PD-L1High) showed significantly enriched expression of immune and cancer stemness pathways compared with those with low PD-L1 expression (PD-L1Low). In addition, the PD-L1High cases were significantly associated with a high stemness score (SSHigh) signature. TNBC cell lines g…

0301 basic medicineCell biologyCancer ResearchTriple Negative Breast NeoplasmImmunologyDown-RegulationTriple Negative Breast NeoplasmsArticleB7-H1 Antigen03 medical and health sciences0302 clinical medicineImmune systemStem CellCell Line TumorBiomarkers TumorGeneticsmedicineAnimalsHumansWnt Signaling PathwayMolecular BiologyTriple-negative breast cancerMice Inbred BALB CbiologyAnimalStem CellsCD44Wnt signaling pathwayCancerAldehyde Dehydrogenasemedicine.diseaseHyaluronan ReceptorUp-RegulationALDH1A1Hyaluronan Receptors030104 developmental biology030220 oncology & carcinogenesisbiology.proteinCancer researchFemaleStem cellB7-H1 AntigenHumanOncogene
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Study of interaction of antimutagenic 1,4-dihydropyridine AV-153-Na with DNA-damaging molecules and its impact on DNA repair activity

2018

Background1,4-dihydropyridines (1,4-DHP) possesses important biochemical and pharmacological properties, including antioxidant and antimutagenic activities. It was shown that the antimutagenic 1,4-dihydropyridine AV-153-Na interacts with DNA. The aim of the current study was to test the capability of the compound to scavenge peroxynitrite and hydroxyl radical, to test intracellular distribution of the compound, and to assess the ability of the compound to modify the activity of DNA repair enzymes and to protect the DNA in living cells against peroxynitrite-induced damage.MethodsPeroxynitrite decomposition was assayed by UV spectroscopy, hydroxyl radical scavenging—by EPR spectroscopy. DNA b…

0301 basic medicineCircular dichroismDNA repairDNA damageBiophysicsDNA repairlcsh:MedicineGeneral Biochemistry Genetics and Molecular Biology03 medical and health scienceschemistry.chemical_compoundAV-153-Na0302 clinical medicineFluorescence microscopeMolecular Biology14-dihydropyridineschemistry.chemical_classificationGeneral Neurosciencelcsh:RGeneral MedicineCell Biology030104 developmental biologyEnzymechemistry030220 oncology & carcinogenesisBiophysicsHydroxyl radicalGeneral Agricultural and Biological SciencesDNAPeroxynitritePeerJ
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[How some commensal bacteria would exacerbate colorectal carcinogenesis?].

2016

International audience; The gut microbiota maintains a relationship with its host with strong mutual benefits. Changes in the composition of the intestinal microbiota have been detected in colorectal cancer patients to the extent that it is now considered as a real contributing factor in this pathology. In this review, we focus on three commensal bacterial species, namely Bacteroides fragilis, Fusobacterium nucleatum, and Escherichia coli, which seem to emerge as pathogens and to contribute to colorectal carcinogenesis through their inflammatory and oncogenic properties.; Le microbiote intestinal entretient une relation mutualiste forte avec l’hôte. Depuis la mise en évidence de modificatio…

0301 basic medicineColorectal cancer[SDV]Life Sciences [q-bio]enterotoxigenic bacteroides-fragilis[SDV.CAN]Life Sciences [q-bio]/Cancer[ SDV.MP.BAC ] Life Sciences [q-bio]/Microbiology and Parasitology/BacteriologyGut floradnamedicine.disease_causeGeneral Biochemistry Genetics and Molecular Biology[ SDV.CAN ] Life Sciences [q-bio]/CancerMicrobiology03 medical and health sciences0302 clinical medicine[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologymedicineEscherichia colimucosatumorisgenesisComputingMilieux_MISCELLANEOUSGastrointestinal tract[ SDV ] Life Sciences [q-bio]biologyfusobacterium-nucleatumHost (biology)General Medicinebiology.organism_classificationmedicine.disease[SDV.MP.BAC]Life Sciences [q-bio]/Microbiology and Parasitology/Bacteriologymicroenvironment3. Good healthstomatognathic diseasestumorigenesis030104 developmental biologyinflammation030220 oncology & carcinogenesisgutcellsBacteroides fragilisFusobacterium nucleatumCarcinogenesiscolon-cancer[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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Improving Docking Performance Using Negative Image-Based Rescoring

2017

Despite the large computational costs of molecular docking, the default scoring functions are often unable to recognize the active hits from the inactive molecules in large-scale virtual screening experiments. Thus, even though a correct binding pose might be sampled during the docking, the active compound or its biologically relevant pose is not necessarily given high enough score to arouse the attention. Various rescoring and post-processing approaches have emerged for improving the docking performance. Here, it is shown that the very early enrichment (number of actives scored higher than 1% of the highest ranked decoys) can be improved on average 2.5-fold or even 8.7-fold by comparing th…

0301 basic medicineComputer scienceEnergy minimizationconsensus scoring03 medical and health sciencesmolekyylilääketiedeta318Pharmacology (medical)benchmarkingdocking rescoringOriginal ResearchPharmacologyVirtual screeningDrug discoverybusiness.industrylcsh:RM1-950Pattern recognitionmolecular dockingnegative image-based rescoring (R-NiB)030104 developmental biologylcsh:Therapeutics. PharmacologyActive compoundDocking (molecular)Target proteinArtificial intelligencebusinessFrontiers in Pharmacology
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NF-κB Is a Potential Molecular Drug Target in Triple-Negative Breast Cancers.

2017

Breast cancer continues to cause significant burden in global health morbidity and mortality. Triple-negative breast cancers (TNBCs) are highly aggressive with poor prognosis and are characterized by lack of expression of estrogen receptor, progesterone receptor, and human epidermal growth factor receptor (Her-2). TNBCs are often resistant to cytotoxic chemotherapy and pose major difficulty in achieving personalized medicine due to their molecular heterogeneity. There is increasing evidence that the aberrant activation of nuclear factor (NF)-κB signaling is a frequent characteristic of TNBCs. We evaluated the effects of different potential NF-κB inhibitors, such as bisindolylmaleimide I (BI…

0301 basic medicineCurcuminEstrogen receptorTriple Negative Breast NeoplasmsPharmacologydiagnostics drug targets NF-kB signaling personalized medicine triple-negative breast cancerBiochemistry03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBreast cancerCell Line TumorMG132Progesterone receptorGeneticsmedicineGene silencingHumansPrecision MedicineMolecular BiologyTriple-negative breast cancerbusiness.industryCyclohexanonesNF-kappa BCancermedicine.disease030104 developmental biologychemistry030220 oncology & carcinogenesisBenzamidesProteasome inhibitorCancer researchMolecular MedicineFemalebusinessBiotechnologymedicine.drugSignal TransductionOmics : a journal of integrative biology
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Loss of ISWI Function in Drosophila Nuclear Bodies Drives Cytoplasmic Redistribution of Drosophila TDP-43

2018

Over the past decade, evidence has identified a link between protein aggregation, RNA biology, and a subset of degenerative diseases. An important feature of these disorders is the cytoplasmic or nuclear aggregation of RNA-binding proteins (RBPs). Redistribution of RBPs, such as the human TAR DNA-binding 43 protein (TDP-43) from the nucleus to cytoplasmic inclusions is a pathological feature of several diseases. Indeed, sporadic and familial forms of amyotrophic lateral sclerosis (ALS) and fronto-temporal lobar degeneration share as hallmarks ubiquitin-positive inclusions. Recently, the wide spectrum of neurodegenerative diseases characterized by RBPs functions’ alteration and loss was coll…

0301 basic medicineCytoplasmCytoplasmic inclusionFluorescent Antibody TechniqueProtein aggregationHeterogeneous ribonucleoprotein particleHeterogeneous-Nuclear Ribonucleoproteinslcsh:Chemistry0302 clinical medicineDrosophila Proteinsneurodegenerative diseasesnuclear bodylcsh:QH301-705.5SpectroscopyGeneral MedicinehnRNPsComputer Science ApplicationsCell biologyChromatinTransport proteinDNA-Binding ProteinsProtein Transportmedicine.anatomical_structureDrosophilaDrosophila ProteinProtein BindingImitation SWIBiologyCatalysisArticleInorganic Chemistryomega speckles03 medical and health sciencesmedicineAnimalsPhysical and Theoretical ChemistryMolecular BiologyGenetic Association StudiesCell NucleusOrganic Chemistryta1182Chromatin Assembly and DisassemblyCell nucleus030104 developmental biologylcsh:Biology (General)lcsh:QD1-999gene expression<i>Drosophila</i>; nuclear body; omega speckles; dTDP-43; hnRNPs; omega speckles; neurodegenerative diseases; gene expression; gene regulationdTDP-43gene regulation030217 neurology & neurosurgeryInternational Journal of Molecular Sciences
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A murine intestinal intraepithelial NKp46-negative innate lymphoid cell population characterized by group 1 properties

2017

The Ly49E receptor is preferentially expressed on murine innate-like lymphocytes, such as epidermal Vγ3 T cells, intestinal intraepithelial CD8αα(+) T lymphocytes, and CD49a(+) liver natural killer (NK) cells. As the latter have recently been shown to be distinct from conventional NK cells and have innate lymphoid cell type 1 (ILC1) properties, we investigated Ly49E expression on intestinal ILC populations. Here, we show that Ly49E expression is very low on known ILC populations, but it can be used to define a previously unrecognized intraepithelial innate lymphoid population. This Ly49E-positive population is negative for NKp46 and CD8αα, expresses CD49a and CD103, and requires T-bet expre…

0301 basic medicineCytotoxicity ImmunologicSUBSETSROR-GAMMA-TLYMPHOCYTESILC1TranscriptomeMice0302 clinical medicineInterferonNKp46-negativeMedicine and Health SciencesAntigens LyInterferon gammaLymphocytesIFN-γlcsh:QH301-705.5education.field_of_studyintestinalIFN-GAMMAInnate lymphoid cellNATURAL-KILLERIntestinesKiller Cells NaturalPhenotypeDIFFERENTIATIONSignal transductionNK Cell Lectin-Like Receptor Subfamily Amedicine.drugSignal TransductionintraepithelialEXPRESSIONPopulationNKP46(+) CELLSBiologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesInterferon-gammaImmunityAntigens CDmedicineAnimalseducationCell ShapeNatural Cytotoxicity Triggering Receptor 1INHIBITORY RECEPTORSBiology and Life SciencesEpithelial CellsMolecular biologyImmunity InnateNK-CELLS030104 developmental biologyNatural Cytotoxicity Triggering Receptor 1lcsh:Biology (General)ImmunologyTranscriptomeLy49E030215 immunologyTranscription Factors
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Genetic association study of childhood aggression across raters, instruments, and age

2021

AbstractChildhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. We analyzed phenotype assessments for a total of 328 935 observations from 87 485 children aged between 1.5 and 18 years, while accounting for sample overlap. We also meta-analyzed within subsets of the data, i.e., within rater, instrument and age. SNP-heritability for the overall meta-analysis (AGGoverall) was 3.31% (SE = 0.0038). We found no genome-wide significant SNPs for AGGoverall. The gene-based analysis returned three sign…

0301 basic medicineDISORDER/45/43Genome-wide association study3124 Neurology and psychiatry0302 clinical medicineChildPsychiatry0303 health sciences:trastornos mentales [PSIQUIATRÍA Y PSICOLOGÍA]HERITABILITYMental DisordersCognitionGenomicsExplained variationJustice and Strong InstitutionsAggressionPsychiatry and Mental healthMeta-analysisADOLESCENCEChild Preschool:conducta y mecanismos de la conducta::conducta::síntomas conductuales::agresión [PSIQUIATRÍA Y PSICOLOGÍA]/631/208/212/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleBiological psychiatrymedicine.symptomLife Sciences & Biomedicine:Investigative Techniques::Genetic Techniques::Genetic Association Studies [ANALYTICAL DIAGNOSTIC AND THERAPEUTIC TECHNIQUES AND EQUIPMENT]BEHAVIORRC321-571Childhood aggressionClinical psychologySDG 16 - PeaceAdolescent:Mental Disorders [PSYCHIATRY AND PSYCHOLOGY]Neurosciences. Biological psychiatry. NeuropsychiatrySingle-nucleotide polymorphismBiology3121 Internal medicineMalalties mentals - Aspectes genèticsGenetic correlationArticle1117 Public Health and Health ServicesCellular and Molecular Neuroscience03 medical and health sciences/631/477/2811SDG 3 - Good Health and Well-beingHuman behaviourmedicineSNPHumansGENOME-WIDE ASSOCIATIONBiological PsychiatryGenetic Association Studies030304 developmental biologyGenetic associationRetrospective Studies:técnicas de investigación::técnicas genéticas::estudios de asociación genética [TÉCNICAS Y EQUIPOS ANALÍTICOS DIAGNÓSTICOS Y TERAPÉUTICOS]Science & TechnologyAggressionSDG 16 - Peace Justice and Strong InstitutionsInfant:Behavior and Behavior Mechanisms::Behavior::Behavioral Symptoms::Aggression [PSYCHIATRY AND PSYCHOLOGY]1103 Clinical SciencesAgressivitat en els infantsHeritability/dk/atira/pure/sustainabledevelopmentgoals/peace_justice_and_strong_institutions030104 developmental biology1701 PsychologyORIGINSResearch Programm of Donders Centre for Neuroscience3111 BiomedicineTRAJECTORIES030217 neurology & neurosurgeryDemographyGenome-Wide Association Study
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Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.

2019

Abstract Background The specific characteristics of copy number variations (CNVs) require specific methods of detection and characterization. We developed the Easy One-Step Amplification and Labeling procedure for CNV detection (EOSAL-CNV), a new method based on proportional amplification and labeling of amplicons in 1 PCR. Methods We used tailed primers for specific amplification and a pair of labeling probes (only 1 labeled) for amplification and labeling of all amplicons in just 1 reaction. Products were loaded directly onto a capillary DNA sequencer for fragment sizing and quantification. Data obtained could be analyzed by Microsoft Excel spreadsheet or EOSAL-CNV analysis software. We d…

0301 basic medicineDNA Copy Number VariationsClinical BiochemistryComputational biologyPolymerase Chain Reaction03 medical and health sciences0302 clinical medicineHumansMultiplexMultiplex ligation-dependent probe amplificationCopy-number variationIn Situ Hybridization FluorescenceFluorescent DyesChemistryBiochemistry (medical)Sequence Analysis DNAAmpliconChromosome 17 (human)MSH6DNA sequencer030104 developmental biologyReceptors LDLMSH2030220 oncology & carcinogenesisDNA ProbesMultiplex Polymerase Chain ReactionClinical chemistry
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