Search results for "Genetics"

showing 10 items of 12494 documents

Gut Microbiota and Risk of Developing Celiac Disease

2016

Gut microbiota shapes the development of the mucosal immune system and may provide protection against immune-mediated diseases. Celiac disease (CD) is a chronic inflammatory condition triggered by dietary gluten proteins, recently associated with gut microbiota alterations in cross-sectional studies comparing patients and controls. Whether or not these differences are causally related to the disease has yet to be elucidated, but evaluation of specific bacteria isolated from CD patients in experimental models suggests that they can promote an adverse response to dietary gluten, whereas other commensal bacteria can be protective. Genetic and environmental factors associated with increased CD …

0301 basic medicineDiseaseEnvironmentGut floradigestive systemEpigenesis GeneticPathogenesis03 medical and health sciences0302 clinical medicineImmune systemRisk FactorsHumansMedicineEpigeneticsEpigenesischemistry.chemical_classificationbiologybusiness.industryGastroenterologyInfantbiology.organism_classificationCommensalismGlutenGastrointestinal MicrobiomeCeliac Disease030104 developmental biologychemistryImmunology030211 gastroenterology & hepatologybusinessJournal of Clinical Gastroenterology
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Identification of novel drug resistance mechanisms by genomic and transcriptomic profiling of glioblastoma cells with mutation-activated EGFR.

2021

Abstract Aims Epidermal growth factor receptor (EGFR) is not only involved in carcinogenesis, but also in chemoresistance. We characterized U87.MGΔEGFR glioblastoma cells with constitutively active EGFR due to deletion at the ligand binding domain in terms of gene expression profiling and chromosomal aberrations. Wild-type U87.MG cells served as control. Materials and methods RNA sequencing and network analyses (Ingenuity Pathway Analysis) were performed to identify novel drug resistance mechanisms related to expression of mutation activated EGFR. Chromosomal aberrations were characterized by multicolor fluorescence in situ hybridization (mFISH) and array comparative genomic hybridization (…

0301 basic medicineDown-RegulationBiologymedicine.disease_cause030226 pharmacology & pharmacyGeneral Biochemistry Genetics and Molecular BiologyTranscriptome03 medical and health sciences0302 clinical medicineCell Line TumormedicineHumansGene Regulatory NetworksProtein Interaction MapsGeneral Pharmacology Toxicology and PharmaceuticsGeneTranscription factorMetaphaseChromosome AberrationsMutationmedicine.diagnostic_testBrain NeoplasmsGene Expression ProfilingGeneral MedicineGenomicsUp-RegulationGene expression profilingErbB ReceptorsGene Expression Regulation Neoplastic030104 developmental biologyDrug Resistance NeoplasmMutationCancer researchCarcinogenesisGlioblastomaTranscriptomeComparative genomic hybridizationFluorescence in situ hybridizationSignal TransductionLife sciences
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The emergence of drug resistance to targeted cancer therapies: Clinical evidence.

2019

For many decades classical anti-tumor therapies included chemotherapy, radiation and surgery; however, in the last two decades, following the identification of the genomic drivers and main hallmarks of cancer, the introduction of therapies that target specific tumor-promoting oncogenic or non-oncogenic pathways, has revolutionized cancer therapeutics. Despite the significant progress in cancer therapy, clinical oncologists are often facing the primary impediment of anticancer drug resistance, as many cancer patients display either intrinsic chemoresistance from the very beginning of the therapy or after initial responses and upon repeated drug treatment cycles, acquired drug resistance deve…

0301 basic medicineDrugCancer Researchmedicine.drug_classmedicine.medical_treatmentmedia_common.quotation_subjectTranslational researchApoptosisDrug resistanceMonoclonal antibodyBioinformatics03 medical and health sciences0302 clinical medicineNeoplasmsmedicineHumansPharmacology (medical)Hedgehog ProteinsEpigeneticsProtein Kinase Inhibitorsmedia_commonPharmacologyChemotherapybusiness.industryCancerImmunotherapyProtein-Tyrosine Kinasesmedicine.disease030104 developmental biologyInfectious DiseasesOncologyDrug Resistance Neoplasm030220 oncology & carcinogenesisbusinessProteasome InhibitorsDrug resistance updates : reviews and commentaries in antimicrobial and anticancer chemotherapy
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Drug metabolism by cultured human hepatocytes: how far are we from the in vivo reality?

2004

The investigation of metabolism is an important milestone in the course of drug development. Drug metabolism is a determinant of drug pharmacokinetics variability in human beings. Fundamental to this are phenotypic differences, as well as genotypic differences, in the expression of the enzymes involved in drug metabolism. Genotypic variability is easy to identify by means of polymerase chain reaction-based or DNA chip-based methods, whereas phenotypic variability requires direct measurement of enzyme activities in liver, or, indirectly, measurement of the rate of metabolism of a given compound in vivo. There is a great deal of phenotypic variability in human beings, only a minor part being…

0301 basic medicineDrugDiclofenacmedia_common.quotation_subjectBiologyPharmacologyToxicologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineCytochrome P-450 Enzyme SystemIn vivoGenetic variationmedicineHumansCells Culturedmedia_common030102 biochemistry & molecular biologyAnti-Inflammatory Agents Non-SteroidalGenetic VariationGeneral MedicineMetabolismIn vitroMedical Laboratory TechnologyDrug developmentBiochemistryLiverPharmaceutical Preparations030220 oncology & carcinogenesisMultigene FamilyHepatocytesAceclofenacDrug metabolismmedicine.drugAlternatives to laboratory animals : ATLA
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Overview of key molecular and pharmacological targets for diabetes and associated diseases

2021

Diabetes epidemiological quantities are demonstrating one of the most important communities' health worries. The essential diabetic difficulties are including cardiomyopathy, nephropathy, inflammation, and retinopathy. Despite developments in glucose decreasing treatments and drugs, these diabetic complications are still ineffectively reversed or prohibited. Several signaling and molecular pathways are vital targets in the new therapies of diabetes. This review assesses the newest researches about the key molecules and signaling pathways as targets of molecular pharmacology in diabetes and diseases related to it for better treatment based on molecular sciences. The disease is not cured by c…

0301 basic medicineDrugmedia_common.quotation_subjectDiseaseType 2 diabetesBioinformatics030226 pharmacology & pharmacyGeneral Biochemistry Genetics and Molecular BiologyNephropathyDiabetes Complications03 medical and health sciences0302 clinical medicineDiabetes mellitusDrug DiscoveryDiabetes MellitusAnimalsHumansHypoglycemic AgentsMedicineMolecular Targeted TherapyPharmacology & PharmacyGeneral Pharmacology Toxicology and Pharmaceuticsmedia_commonGlycemicbusiness.industry0601 Biochemistry and Cell Biology 1115 Pharmacology and Pharmaceutical SciencesGeneral MedicineMolecular PharmacologyA300medicine.diseaseHuman genetics030104 developmental biologybusinessSignal Transduction
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Dual inhibitors of histone deacetylases and other cancer-related targets: A pharmacological perspective.

2020

International audience; Epigenetic enzymes histone deacetylases (HDACs) are clinically validated anticancer drug targets which have been studied intensively in the past few decades. Although several drugs have been approved in this field, they are still limited to a subset of hematological malignancies (in particular T-cell lymphomas), with therapeutic potential not fully realized and the drug-resistance occurred after a certain period of use. To maximize the therapeutic potential of these classes of anticancer drugs, and to extend their application to solid tumors, numerous combination therapies containing an HDACi and an anticancer agent from other mechanisms are currently ongoing in clin…

0301 basic medicineDual targeting[SDV]Life Sciences [q-bio]Cancer therapyKinasesAntineoplastic AgentsBioinformaticsBiochemistryAnticancer drugsSynergistic effectsHistone Deacetylases03 medical and health sciences0302 clinical medicineDrug Delivery SystemsNeoplasmsReceptorsmedicineAnimalsHumansEpigeneticsPharmacologybiologybusiness.industryCancerDUAL (cognitive architecture)medicine.diseaseAnticancer drug3. Good healthEnzymesClinical trial[SDV] Life Sciences [q-bio]Histone Deacetylase Inhibitors030104 developmental biologyHistone030220 oncology & carcinogenesisbiology.proteinHistone deacetylases (HDACs)EpigeneticsDual inhibitorbusinessBiochemical pharmacology
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Early ERK1/2 activation promotes DRP1-dependent mitochondrial fission necessary for cell reprogramming.

2016

During the process of reprogramming to induced pluripotent stem (iPS) cells, somatic cells switch from oxidative to glycolytic metabolism, a transition associated with profound mitochondrial reorganization. Neither the importance of mitochondrial remodelling for cell reprogramming, nor the molecular mechanisms controlling this process are well understood. Here, we show that an early wave of mitochondrial fragmentation occurs upon expression of reprogramming factors. Reprogramming-induced mitochondrial fission is associated with a minor decrease in mitochondrial mass but not with mitophagy. The pro-fission factor Drp1 is phosphorylated early in reprogramming, and its knockdown and inhibition…

0301 basic medicineDynaminsSomatic cellMAP Kinase Signaling SystemScienceCèl·lulesCellInduced Pluripotent Stem CellsKruppel-Like Transcription FactorsGeneral Physics and AstronomyBiologyMitochondrionMitochondrial DynamicsGeneral Biochemistry Genetics and Molecular BiologyMitocondrisArticleCell LineProto-Oncogene Proteins c-myc03 medical and health sciencesKruppel-Like Factor 4MiceMitophagymedicineAnimalsPhosphorylationInduced pluripotent stem cellGeneticsMultidisciplinarySOXB1 Transcription FactorsQGeneral ChemistryCellular ReprogrammingCell biologyMitochondria030104 developmental biologymedicine.anatomical_structurePhosphorylationMitochondrial fissionReprogrammingOctamer Transcription Factor-3Nature communications
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Inferring causation from time series in earth system sciences

2019

The heart of the scientific enterprise is a rational effort to understand the causes behind the phenomena we observe. In large-scale complex dynamical systems such as the Earth system, real experiments are rarely feasible. However, a rapidly increasing amount of observational and simulated data opens up the use of novel data-driven causal methods beyond the commonly adopted correlation techniques. Here, we give an overview of causal inference frameworks and identify promising generic application cases common in Earth system sciences and beyond. We discuss challenges and initiate the benchmark platform causeme.net to close the gap between method users and developers.

0301 basic medicineEarth scienceAquatic Ecology and Water Quality ManagementDynamical systems theoryComputer science530 PhysicsDatenmanagement und AnalyseSciencereviewGeneral Physics and Astronomyheart02 engineering and technologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesDatabasesLife ScienceCausationStatistical physics thermodynamics and nonlinear dynamicsintermethod comparisonlcsh:Scienceresearch workScientific enterpriseMultidisciplinaryWIMEKSeries (mathematics)QComputational sciencefeasibility study500General ChemistryAquatische Ecologie en Waterkwaliteitsbeheersimulation021001 nanoscience & nanotechnologyData sciencecausal inference climateEarth system scienceEnvironmental sciences030104 developmental biologytime series analysisCausal inferencePerspectiveBenchmark (computing)Observational studylcsh:Qconceptual frameworkdata management0210 nano-technologyClimate sciences
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Current state of genomic policies in healthcare among EU member states: results of a survey of chief medical officers

2016

Abstract Background A need for a governance of genomics in healthcare among European Union (EU) countries arose during an international meeting of experts on public health genomics (PHG). We have conducted a survey on existing national genomic policies in healthcare among Chief Medical Officers (CMOs) of the 28 EU member states, plus Norway. Methods A questionnaire was sent to CMOs after a meeting on the policy implications of PHG held during the Italian presidency of the Council of EU in 2014. The survey was closed in November 2015. Results CMOs response rate was 65.5% (19/29). Twelve (63.2%) reported that their countries had a policy for genomics in healthcare in place, and 15 (78.9%) rep…

0301 basic medicineEconomic growthPresidencyHealth Personnelsurvey.Harmonization030105 genetics & hereditySettore MED/42 - Igiene Generale E Applicata03 medical and health sciences0302 clinical medicineSurveys and QuestionnairesEnvironmental healthHealth careHumansmedia_common.cataloged_instanceMedicineEuropean Union030212 general & internal medicineEuropean unionSurveySettore MED/42 - IGIENE GENERALE E APPLICATAmedia_common...Public Health; genomics and health care; Public Health Genomics; policy; survey.Public health genomicsNorwaybusiness.industryCorporate governanceHealthcarePublic Health Environmental and Occupational HealthHealth technologyGenomicsgenetic screeningPublic health genomicMiscellaneous3. Good healthpublic health medicinePublic Healthgenomics and health careWorking groupbusinessDelivery of Health Carepolicy
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SARS-CoV-2 and COVID-19: A genetic, epidemiological, and evolutionary perspective

2020

In less than five months, COVID-19 has spread from a small focus in Wuhan, China, to more than 5 million people in almost every country in the world, dominating the concern of most governments and public health systems. The social and political distresses caused by this epidemic will certainly impact our world for a long time to come. Here, we synthesize lessons from a range of scientific perspectives rooted in epidemiology, virology, genetics, ecology and evolutionary biology so as to provide perspective on how this pandemic started, how it is developing, and how best we can stop it.

0301 basic medicineEconomic growth[SDV]Life Sciences [q-bio]Gene ExpressionSeverity of Illness IndexDisease OutbreaksBiological CoevolutionChiropteraPandemicEpidemiologyPhylogenyComputingMilieux_MISCELLANEOUSEutheriaPhylodynamics3. Good healthEuropeInfectious DiseasesHost susceptibilityHost-Pathogen InteractionsSpike Glycoprotein CoronavirusAngiotensin-Converting Enzyme 2Coronavirus InfectionsMicrobiology (medical)medicine.medical_specialtyAsiaCoronavirus disease 2019 (COVID-19)Pneumonia Viral030106 microbiologyFILOGENIAPeptidyl-Dipeptidase ABiologyMicrobiologyArticleBetacoronavirus03 medical and health sciencesPoliticsGeneticsmedicineAnimalsHumansChinaPandemicsMolecular BiologyEcology Evolution Behavior and SystematicsSARS-CoV-2Public healthPerspective (graphical)COVID-19Immunity InnateCoronavirusImmune system030104 developmental biologyViral phylodynamicsNorth AmericaCoevolution
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