Search results for "Phenotype"

showing 10 items of 1875 documents

Liver-specific overexpression of matrix metalloproteinase 9 (MMP-9) in transgenic mice accelerates development of hepatocellular carcinoma.

2010

Matrix metalloproteinase-9 (MMP-9) plays a central role in tumor invasion and development of metastases. Expression of MMP-9 had been shown in human hepatocellular carcinomas (HCCs). However, it remained unclear whether MMP-9 could influence development of HCC. In order to address this issue, we generated transgenic mice overexpressing MMP-9 in the liver. In order to avoid embryonic lethality a Cre-lox system was utilized for conditional overexpression of MMP-9 under control of an albumin enhancer and promoter. Induction of MMP-9 overexpression in transgenic mice was achieved by i.v. injection of an adenovirus coding for the Cre recombinase. Initiation of liver carcinogenesis was achieved b…

Genetically modified mouseCancer ResearchLiver tumorTransgeneGenetic VectorsCre recombinaseGene ExpressionMice TransgenicBiologymedicine.disease_causeMiceLiver Neoplasms ExperimentalIn vivoGene OrdermedicineAnimalsHomeostasisHumansHomologous RecombinationMolecular BiologyIntegrasesHCCSmedicine.diseaseMolecular biologyCell Transformation NeoplasticPhenotypeLiverMatrix Metalloproteinase 9Organ SpecificityHepatocellular carcinomaCarcinogenesisMolecular carcinogenesis
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Heart-targeted overexpression of caspase3 in mice increases infarct size and depresses cardiac function

2001

Up-regulation of proapoptotic genes has been reported in heart failure and myocardial infarction. To determine whether caspase genes can affect cardiac function, a transgenic mouse was generated. Cardiac tissue-specific overexpression of the proapoptotic gene Caspase3 was induced by using the rat promoter of α-myosin heavy chain, a model that may represent a unique tool for investigating new molecules and antiapoptotic therapeutic strategies. Cardiac-specific Caspase3 expression induced transient depression of cardiac function and abnormal nuclear and myofibrillar ultrastructural damage. When subjected to myocardial ischemia–reperfusion injury, Caspase3 transgenic mice showed increased inf…

Genetically modified mouseCardiac function curveDNA ComplementaryTransgeneRecombinant Fusion ProteinsMyocardial InfarctionMyocardial IschemiaCaspase 3ApoptosisMice TransgenicMyocardial Reperfusion InjuryDNA FragmentationContractilityMiceVentricular Dysfunction LeftmedicineAnimalsHumansGenetic Predisposition to DiseaseMyocardial infarctionCaspaseMultidisciplinarybiologyCaspase 3MyocardiumBiological Sciencesmedicine.diseasePhenotypeGene Expression RegulationEchocardiographyOrgan SpecificityHeart failureCaspasesCancer researchbiology.proteincardiovascular system
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Impairment of TGF-β signaling in T cells increases susceptibility to experimental autoimmune hepatitis in mice

2002

In autoimmune hepatitis, strong TGF-beta1 expression is found in the inflamed liver. TGF-beta overexpression may be part of a regulatory immune response attempting to suppress autoreactive T cells. To test this hypothesis, we determined whether impairment of TGF-beta signaling in T cells leads to increased susceptibility to experimental autoimmune hepatitis (EAH). Transgenic mice of strain FVB/N were generated expressing a dominant-negative TGF-beta type II receptor in T cells under the control of the human CD2 promoter/locus control region. On induction of EAH, transgenic mice showed markedly increased portal and periportal leukocytic infiltrations with hepatocellular necroses compared wit…

Genetically modified mouseCellular immunityPhysiologyT-LymphocytesEnzyme-Linked Immunosorbent AssayMice TransgenicAutoimmune hepatitisBiologyMiceImmune systemTransforming Growth Factor betaPhysiology (medical)medicineAnimalsHomeostasisCells CulturedAutoimmune diseaseHepatitisB-LymphocytesHepatologyGastroenterologyT lymphocyteBlotting Northernmedicine.diseaseImmunohistochemistryHepatitis AutoimmunePhenotypeNeutrophil InfiltrationImmunologySignal transductionSignal TransductionAmerican Journal of Physiology-Gastrointestinal and Liver Physiology
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Astrocytic alterations in interleukin-6/Soluble interleukin-6 receptor alpha double-transgenic mice.

2000

Interleukin-6 (IL-6), a major cytokine with diverse effects on cells mainly of the immune and hematopoietic systems, has been linked to several neurological disorders such as acquired immune deficiency syndrome dementia, multiple sclerosis, and Alzheimer's disease. Central nervous system (CNS)-specific expression of IL-6 caused neurodegeneration, massive gliosis, and vascular proliferation in transgenic mice. However, the effects of systemically circulating IL-6 and its receptor IL-6Ralpha on the CNS are unknown. IL-6Ralpha is the specific component of the IL-6 receptor system and hence an important co-factor of IL-6. IL-6Ralpha is bioactive in a membrane-bound and in a soluble (s) form. We…

Genetically modified mouseCentral Nervous SystemPathologymedicine.medical_specialtyTransgeneCentral nervous systemGene ExpressionMice TransgenicBiologyPathology and Forensic MedicineMicemedicineAnimalsHumansTransgenesReceptorInterleukin 6Interleukin-6NeurodegenerationBrainmedicine.diseaseReceptors Interleukin-6Astrogliosismedicine.anatomical_structurePhenotypeGliosisSolubilityAstrocytesbiology.proteinmedicine.symptomRegular ArticlesThe American journal of pathology
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Chronic inflammatory cardiomyopathy of interferon γ-overexpressing transgenic mice is mediated by tumor necrosis factor-α.

2011

We recently described a model of inflammatory cardiomyopathy in interferon (IFN)-γ overexpressing transgenic mice stably circulating IFN-γ in the serum referred to as SAP–-IFN-γ mice. SAP–IFN-γ transgenic mice show cardiac infiltration by mononuclear leukocytes, culminating in dilated cardiomyopathy characterized by an increase of left ventricular end diastolic diameter and reduction of fractional shortening. We hypothesized that the pathological mechanism underlying SAP–IFN-γ cardiomyopathy might be mediated by (auto)immune processes or tumor necrosis factor (TNF)-α synthesis from IFN-γ–activated macrophages. To verify these hypotheses, we crossed SAP–IFN-γ transgenic mice with immunodefic…

Genetically modified mouseMalemedicine.medical_specialtyMyocarditisTransgeneCardiomyopathyApoptosisAutoimmunityMice TransgenicKaplan-Meier EstimateBiologyAdaptive ImmunityPathology and Forensic MedicineHepatitisInterferon-gammaMiceImmune systemInterferonInternal medicinemedicineAnimalsGene SilencingTumor Necrosis Factor-alphaMacrophagesAlanine Transaminasemedicine.diseaseMyocarditisEndocrinologyPhenotypeEchocardiographyKnockout mouseChronic DiseaseCytokinesTumor necrosis factor alphaFemalemedicine.drugThe American journal of pathology
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Presenilin-1 but not amyloid precursor protein mutations present in mouse models of Alzheimer’s disease attenuate the response of cultured cells to γ…

2010

γ-Secretase modulators (GSMs) inhibit the generation of amyloidogenic Aβ42 peptides and are promising agents for treatment or prevention of Alzheimer's disease (AD). Recently, a second generation of GSMs with favorable pharmacological properties has emerged, but preclinical studies to assess their efficacy in vivo are lacking. Such studies rely on transgenic mouse models that express amyloid precursor protein (APP) and presenilin (PSEN) mutations associated with early-onset familial AD. Previously, we have shown that certain PSEN1 mutations attenuated the response of cultured cells to GSMs and potentially confound in vivo studies in AD mouse models. However, different combinations of famili…

Genetically modified mouseMutationbiologymedicine.disease_causemedicine.diseaseBiochemistryPhenotypePresenilinCellular and Molecular NeuroscienceIn vivomedicinePSEN1Amyloid precursor proteinbiology.proteinCancer researchAlzheimer's diseaseNeuroscienceJournal of Neurochemistry
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Drp1 Controls Effective T Cell Immune-Surveillance by Regulating T Cell Migration, Proliferation, and cMyc-Dependent Metabolic Reprogramming

2018

Summary Mitochondria are key players in the regulation of T cell biology by dynamically responding to cell needs, but how these dynamics integrate in T cells is still poorly understood. We show here that the mitochondrial pro-fission protein Drp1 fosters migration and expansion of developing thymocytes both in vitro and in vivo. In addition, we find that Drp1 sustains in vitro clonal expansion and cMyc-dependent metabolic reprogramming upon activation, also regulating effector T cell numbers in vivo. Migration and extravasation defects are also exhibited in Drp1-deficient mature T cells, unveiling its crucial role in controlling both T cell recirculation in secondary lymphoid organs and acc…

Genetics and Molecular Biology (all)0301 basic medicinecell migrationT-LymphocytesCellCell CountMitochondrionLymphocyte ActivationBiochemistryCell MovementHomeostasismetabolic reprogrammingcell migration; cell proliferation; cMyc; Drp1; exhaustion; metabolic reprogramming; mitochondrial dynamics; T cells; thymocytes; tumor immune-surveillance; Biochemistry Genetics and Molecular Biology (all)lcsh:QH301-705.5cMycImmunologic SurveillanceMice KnockoutThymocytesEffectorDrp1; T cells; cMyc; cell migration; cell proliferation; exhaustion; metabolic reprogramming; mitochondrial dynamics; thymocytes; tumor immune-surveillanceCell migrationCell DifferentiationCell biologymedicine.anatomical_structurePhenotypeDynaminsendocrine systemSettore BIO/06Cell SurvivalLymphoid TissueMAP Kinase Signaling SystemT cellT cellsReceptors Antigen T-CellDrp1BiologyGeneral Biochemistry Genetics and Molecular BiologyArticleProto-Oncogene Proteins c-myc03 medical and health sciencestumor immune-surveillancemitochondrial dynamicexhaustionHomeostasimedicineAnimalsCell ProliferationTumor microenvironmentBiochemistry Genetics and Molecular Biology (all)Cell growthAnimalT cellthymocytemitochondrial dynamicsDynamin030104 developmental biologylcsh:Biology (General)T-LymphocyteT cell migration
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Association of maternal prenatal smoking GFI1-locus and cardio-metabolic phenotypes in 18,212 adults

2018

Background: DNA methylation at the GFI1-locus has been repeatedly associated with exposure to smoking from the foetal period onwards. We explored whether DNA methylation may be a mechanism that links exposure to maternal prenatal smoking with offspring's adult cardio-metabolic health.Methods: We meta-analysed the association between DNA methylation at GFI1-locus with maternal prenatal smoking, adult own smoking, and cardio-metabolic phenotypes in 22 population-based studies from Europe, Australia, and USA (n= 18,212). DNA methylation at the GFI1-locus was measured in whole-blood. Multivariable regression models were fitted to examine its association with exposure to prenatal and own adult s…

Genetics and Molecular Biology (all)MaleNetherlands Twin Register (NTR)0301 basic medicineResearch paperGFI1 protein humanGFI1-locusraskausResearch & Experimental Medicinecardio-metabolic phenotypesBiochemistryEpigenesis GeneticGLOBAL Meth QTL Consortium0302 clinical medicinePregnancySmoke030212 general & internal medicinematernal prenatal smokingDNA METHYLATIONmedia_commonRISK2. Zero hungereducation.field_of_studySmokingta3142General MedicineMiddle Agedgenetics [Transcription Factors]3. Good healthDNA-Binding ProteinsPhenotypeMedicine Research & ExperimentalCARDIOVASCULAR-DISEASEepigenetiikkaPopulation SurveillancePrenatal Exposure Delayed EffectsDNA methylation/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleDisease SusceptibilityBIOS ConsortiumMedical GeneticsLife Sciences & BiomedicineAdultmedicine.medical_specialtyOffspringBirth weightPopulationMothersgenetics [DNA-Binding Proteins]ta3111MethylationGeneral Biochemistry Genetics and Molecular BiologyDIET03 medical and health sciencesMedicine General & InternalSDG 3 - Good Health and Well-beingtupakointiGeneral & Internal MedicineInternal medicine/dk/atira/pure/keywords/cohort_studies/netherlands_twin_register_ntr_medicinemedia_common.cataloged_instanceHumansddc:610adverse effects [Maternal Exposure]EXPOSUREEpigeneticsEuropean unioneducationMedicinsk genetikEPIGENOME-WIDE ASSOCIATIONPregnancyBiochemistry Genetics and Molecular Biology (all)Science & Technologybusiness.industryadverse effects [Smoking]DNA Methylationta3121medicine.diseaseBIRTH-WEIGHT030104 developmental biologyEndocrinologyGenetic Locisydän- ja verisuonitauditCpG IslandsCIGARETTE-SMOKINGCESSATIONEnergy Metabolismmetabolism [Myocardium]businessBody mass indexBiomarkersTranscription FactorsEBioMedicine
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Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic inf…

2018

AbstractHumans vary substantially in their willingness to take risks. In a combined sample of over one million individuals, we conducted genome-wide association studies (GWAS) of general risk tolerance, adventurousness, and risky behaviors in the driving, drinking, smoking, and sexual domains. We identified 611 approximately independent genetic loci associated with at least one of our phenotypes, including 124 with general risk tolerance. We report evidence of substantial shared genetic influences across general risk tolerance and risky behaviors: 72 of the 124 general risk tolerance loci contain a lead SNP for at least one of our other GWAS, and general risk tolerance is moderately to stro…

Genetics0303 health sciencesGabaergic neurotransmissionSingle-nucleotide polymorphismGenome-wide association studyBiologyPhenotype03 medical and health sciences0302 clinical medicineSNPGene030217 neurology & neurosurgery030304 developmental biologyGenetic association
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Gene expression models based on a reference laboratory strain are bad predictors of Mycobacterium tuberculosis complex transcriptional diversity

2016

ABSTRACTSpecies of the Mycobacterium tuberculosis complex (MTBC) kill more people every year than any other infectious disease. As a consequence of its global distribution and parallel evolution with the human host the bacteria is not genetically homogeneous. The observed genetic heterogeneity has relevance at different phenotypic levels, from gene expression to epidemiological dynamics. However current systems biology datasets have focused in the laboratory reference strain H37Rv. By using large expression datasets testing the role of almost two hundred transcription factors, we have constructed computational models to grab the expression dynamics of Mycobacterium tuberculosis H37Rv genes.…

Genetics0303 health sciencesGenetic diversityGenetic heterogeneitySystems biologyBiologybiology.organism_classificationPhenotype3. Good health03 medical and health sciences0302 clinical medicineMycobacterium tuberculosis complexInfectious disease (medical specialty)Gene expressionGene030217 neurology & neurosurgery030304 developmental biology
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