Search results for "EBP"

showing 10 items of 105 documents

Transcriptome-Wide Analysis Identifies Novel Associations With Blood Pressure.

2017

Hypertension represents a major cardiovascular risk factor. The pathophysiology of increased blood pressure (BP) is not yet completely understood. Transcriptome profiling offers possibilities to uncover genetics effects on BP. Based on 2 populations including 2549 individuals, a meta-analyses of monocytic transcriptome-wide profiles were performed to identify transcripts associated with BP. Replication was performed in 2 independent studies of whole-blood transcriptome data including 1990 individuals. For identified candidate genes, a direct link between long-term changes in BP and gene expression over time and by treatment with BP-lowering therapy was assessed. The predictive value of pro…

0301 basic medicineMaleCandidate geneGene ExpressionGenome-wide association studyBlood Pressure030204 cardiovascular system & hematologyCardiorespiratory Medicine and HaematologyCardiovascularLMNATranscriptome0302 clinical medicineRisk FactorsCEBPAGene expression2.1 Biological and endogenous factorsAetiologyGeneticsMyelin and Lymphocyte-Associated Proteolipid ProteinsBlood Pressure ; Gene Expression ; Genome-wide Association Study ; Hypertension ; Transcriptomeblood pressureGenomicsSingle NucleotideLIM Domain Proteinsblood pressure; gene expression; genome-wide association study; hypertension; transcriptomeStrokeHeart DiseaseHypertensionPublic Health and Health ServicesBiomarker (medicine)FemaleEssential HypertensionPoly(ADP-ribose) PolymerasesBiotechnologyAdulthypertensionClinical SciencesNucleoside Transport ProteinsBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesClinical ResearchInternal MedicineGeneticsHumansPolymorphismgenome-wide association studyGene Expression ProfilingHuman GenomeBlood Pressure DeterminationGene expression profiling030104 developmental biologyGood Health and Well BeingCardiovascular System & Hematologygene expressionCCAAT-Enhancer-Binding ProteinsCarrier ProteinstranscriptomeTranscription Factors
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CAMKIIγ suppresses an efferocytosis pathway in macrophages and promotes atherosclerotic plaque necrosis

2017

Atherosclerosis is the underlying etiology of cardiovascular disease, the leading cause of death worldwide. Atherosclerosis is a heterogeneous disease in which only a small fraction of lesions lead to heart attack, stroke, or sudden cardiac death. A distinct type of plaque containing large necrotic cores with thin fibrous caps often precipitates these acute events. Here, we show that Ca2+/calmodulin-dependent protein kinase gamma (CaMKII gamma) in macrophages plays a major role in the development of necrotic, thin-capped plaques. Macrophages in necrotic and symptomatic atherosclerotic plaques in humans as well as advanced atherosclerotic lesions in mice demonstrated activation of CaMKII. We…

0301 basic medicineMalePathologymedicine.medical_specialtyPhagocytosisGene ExpressionInflammationApoptosisMice TransgenicBiologyPHAGOCYTOSISLIPID MEDIATORS03 medical and health sciencesNecrosisENDOPLASMIC-RETICULUM STRESSINFLAMMATIONCa2+/calmodulin-dependent protein kinaseC/EBP HOMOLOGOUS PROTEINmedicineMacrophageAnimalsHumansKINASE-IILiver X receptorEfferocytosisCells CulturedLiver X ReceptorsAPOE-DEFICIENT MICEc-Mer Tyrosine KinaseATF6MacrophagesAPOPTOTIC CELL ACCUMULATIONGeneral MedicineMERTKAtherosclerosisPlaque AtheroscleroticActivating Transcription Factor 6Enzyme ActivationMice Inbred C57BL030104 developmental biologyRESOLUTIONmedicine.symptomCalcium-Calmodulin-Dependent Protein Kinase Type 2LIVER-X-RECEPTORResearch ArticleSignal TransductionJournal of Clinical Investigation
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The Absence of HIF-1α Increases Susceptibility to Leishmania donovani Infection via Activation of BNIP3/mTOR/SREBP-1c Axis

2020

Summary: Hypoxia-inducible factor-1 alpha (HIF-1α) is considered a global regulator of cellular metabolism and innate immune cell functions. Intracellular pathogens such as Leishmania have been reported to manipulate host cell metabolism. Herein, we demonstrate that myeloid cells from myeloid-restricted HIF-1α-deficient mice and individuals with loss-of-function HIF1A gene polymorphisms are more susceptible to L. donovani infection through increased lipogenesis. Absence of HIF-1α leads to a defect in BNIP3 expression, resulting in the activation of mTOR and nuclear translocation of SREBP-1c. We observed the induction of lipogenic gene transcripts, such as FASN, and lipid accumulation in inf…

0301 basic medicineSREBP-1cHIF1A Gene[SDV]Life Sciences [q-bio]Leishmania donovaniHIF-1αGeneral Biochemistry Genetics and Molecular BiologyMitochondrial Proteins03 medical and health sciences0302 clinical medicinevisceral leishmaniasisAnimalsHumansMyeloid Cellslcsh:QH301-705.5GenelipogenesisPI3K/AKT/mTOR pathwayDisease ResistanceMice Inbred BALB CInnate immune systembiologyIntracellular parasiteLipogenesisMacrophagesTOR Serine-Threonine KinasesGenetic VariationMembrane Proteinsbiology.organism_classificationLeishmaniaHypoxia-Inducible Factor 1 alpha SubunitFASNLipidsmacrophages3. Good healthCell biologyUp-RegulationMice Inbred C57BL030104 developmental biologylcsh:Biology (General)myeloid cellsLipogenesisLeishmaniasis VisceralDisease SusceptibilityacetateSterol Regulatory Element Binding Protein 1030217 neurology & neurosurgeryLeishmania donovaniSignal Transduction
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Indeno[1,2,3-cd]pyrene and picene mediate actions via estrogen receptor α signaling pathway in in vitro cell systems, altering gene expression.

2020

Currently, the environmental impact of ubiquitous plastic debris triggered quite some public attention. However, the global impact of microplastic on human health is by and large either unknown or neglected. By looking at the underlying biochemical mechanisms leading to the global health threat microplastic was discovered to carry persistent organic pollutants, such as polycyclic aromatic hydrocarbons (PAH), to marine life. The effect of microplastic-ingestion in the human body remains unfortunately somewhat elusive as of yet. For this reason, we screened for compounds binding to the human estrogen receptor α (ERα) and identified the PAH compounds indeno[1,2,3-cd]pyrene (Indpy) and picene (…

0301 basic medicineXBP1IER3Estrogen receptorGene ExpressionToxicologyReal-Time Polymerase Chain ReactionChrysenes03 medical and health sciences0302 clinical medicineGene expressionCEBPBHumansPharmacologyPyrenesCell growthChemistryHEK 293 cellsEstrogen Receptor alphaCell biologyMolecular Docking Simulation030104 developmental biologyGene Expression Regulation030220 oncology & carcinogenesisMCF-7 CellsSignal transductionSignal TransductionToxicology and applied pharmacology
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Srebf2 Locus Overexpression Reduces Body Weight, Total Cholesterol and Glucose Levels in Mice Fed with Two Different Diets

2020

Macronutrients represent risk factors for hyperlipidemia or diabetes. Lipid alterations and type 2 diabetes mellitus are global health problems. Overexpression of sterol regulatory element-binding factor (Srebf2) in transgenic animals is linked to elevated cholesterol levels and diabetes development. We investigated the impact of increased Srebf2 locus expression and the effects of control and high-fat, high-sucrose (HFHS) diets on body weight, glucose and lipid metabolisms in transgenic mice (S-mice). Wild type (WT) and S-mice were fed with both diets for 16 weeks. Plasma glucose, insulin and lipids were assessed (n = 25). Immunostainings were performed in liver, pancreas and fat (N = 10).…

0301 basic medicinemedicine.medical_specialtymedicine.medical_treatment030209 endocrinology & metabolismlcsh:TX341-641Carbohydrate metabolismtransgenic miceArticle03 medical and health scienceschemistry.chemical_compound0302 clinical medicineInternal medicineAdipocyteDiabetes mellitusHyperlipidemialipid metabolismmedicinecarbohydrate metabolismhigh-sucrose diethigh-fatNutrition and DieteticsCholesterolInsulinType 2 Diabetes MellituscholesterolLipid metabolismmedicine.diseaselipoproteins030104 developmental biologyEndocrinologychemistrylipids (amino acids peptides and proteins)atherosclerosissterol regulatory element-binding protein 2 (SREBP-2)lcsh:Nutrition. Foods and food supplyFood ScienceNutrients
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Graphic emotion: a critical rhetorical analysis of online children-related charity communication in poland

2019

This study explores dominant applications of graphic affordances in a sample of children-related charity appeals collected from the official websites of nine prominent Polish foundations in late 2016. It provides a systematic description of salient typographic and iconographic resources and an assessment of their rhetorical potential to solicit donations. The analysis focuses on three dominant discursive strategies used by charity communicators, namely how graphic affordances project utility (logos), confidence (ethos) and engagement (pathos). The article offers a critique of strategic emotional stimulation through aestheticized imagery and infantilizing graphics that replace arguments with…

050101 languages & linguisticsgraphics05 social sciencesGeneral Social Sciences050801 communication & media studiesSample (statistics)charity communicationVisual rhetoricVisual arts0508 media and communicationschildrenwebpage designRhetorical question0501 psychology and cognitive sciencesSociologyGraphicsAffordancevisual rhetoric
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The influence of serotonin- and other genes on impulsive behavioral aggression and cognitive impulsivity in children with attention-deficit/hyperacti…

2008

Contains fulltext : 70708.pdf (Publisher’s version ) (Open Access) ABSTRACT: BACKGROUND: Low serotonergic (5-HT) activity correlates with increased impulsive-aggressive behavior, while the opposite association may apply to cognitive impulsiveness. Both types of impulsivity are associated with attention-deficit/hyperactivity disorder (ADHD), and genes of functional significance for the 5-HT system are implicated in this disorder. Here we demonstrate the separation of aggressive and cognitive components of impulsivity from symptom ratings and test their association with 5-HT and functionally related genes using a family-based association test (FBAT-PC). METHODS: Our sample consisted of 1180 o…

2805 Cognitive Neurosciencemedicine.medical_specialtyNeurologyGenetics and epigenetic pathways of disease [NCMLS 6]Cognitive NeuroscienceMedizin610 Medicine & healthNeuroinformatics [DCN 3]SerotonergicImpulsivityMental health [NCEBP 9]lcsh:RC346-429Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesBehavioral Neuroscience0302 clinical medicineCognitive neurosciences [UMCN 3.2]2802 Behavioral NeurosciencePerception and Action [DCN 1]medicineAttention deficit hyperactivity disorderddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAssociation (psychology)Psychiatrylcsh:Neurology. Diseases of the nervous systemBiological PsychiatryAggressionResearchCognitionGeneral Medicine10058 Department of Child and Adolescent Psychiatrymedicine.disease030227 psychiatryAutism spectrum disordermedicine.symptomPsychologyFunctional Neurogenomics [DCN 2]2803 Biological Psychiatry030217 neurology & neurosurgeryClinical psychology
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Anorectal malformations and pregnancy-related disorders: a registry-based case-control study in 17 European regions

2013

Objective To identify pregnancy-related risk factors for different manifestations of congenital anorectal malformations (ARMs).Design A population-based case-control study.Setting Seventeen EUROCAT (European Surveillance of Congenital Anomalies) registries, 1980-2008.Population The study population consisted of 1417 cases with ARM, including 648 cases of isolated ARM, 601 cases of ARM with additional congenital anomalies, and 168 cases of ARM-VACTERL (vertebral, anal, cardiac, tracheo-esophageal, renal, and limb defects), along with 13371 controls with recognised syndromes or chromosomal abnormalities.Methods Multiple logistic regression analyses were used to calculate adjusted odds ratios …

ANOMALIESaetiologyMaternalLogistic regressionAnus ImperforateEpilepsyPre-EclampsiaMEDICATION USEPregnancyRisk FactorsOdds RatioAetiologymedia_commoneducation.field_of_studyObstetricsMATERNAL EXPOSUREObstetrics and GynecologyAnal atresiaCONGENITAL-MALFORMATIONSAnorectal MalformationsEuropeParityHuman Reproduction Renal disorder [NCEBP 12]Population studyFemaleAnal Atresiamedicine.medical_specialtyFeverReproductive Techniques Assistedmedia_common.quotation_subjectPopulationFertilityGenomic disorders and inherited multi-system disorders [IGMD 3]VACTERLmedicineanorectal malformations; anal atresia; birth defects; aetiology; maternal; pregnancy; VACTERLHumansAbnormalities MultipleBirth DefectseducationPregnancyEpilepsybusiness.industryRENACCase-control studyInfant NewbornAbortion InducedOdds ratioBIRTH-DEFECTS PREVENTIONBECKWITH-WIEDEMANN-SYNDROMEHuman Reproducion Genomic disorders and inherited multi-system disorders [NCEBP 12]Estados de Saúde e de Doençamedicine.diseasePregnancy Complicationsmaternalbirth defectsEvaluation of complex medical interventions [NCEBP 2]Case-Control StudiesRISK-FACTORSPregnancy TwinMULTIPLE BIRTHSbusinessIN-VITRO FERTILIZATION
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CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

2005

Contains fulltext : 47591.pdf (Publisher’s version ) (Closed access) Achromatopsia is a congenital, autosomal recessively inherited disorder characterized by a lack of color discrimination, low visual acuity (<0.2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder. Here, we analyzed the spectrum and prevalence of CNGB3 gene mutations in a cohort of 341 independent patients with achromatopsia. In 163 patients, CNGB3 mutations could be identified. A total of 105 achromats carried apparent homozygous mutations, 44 were compound (double) heterozygotes, and 14 patients had only a single mutant allele. The derived CNGB3 mutatio…

AchromatopsiaGenetics and epigenetic pathways of disease [NCMLS 6]genetic structuresGATED CATION CHANNELCNGB3 mutationsNonsense mutationMutantCyclic Nucleotide-Gated Cation ChannelsColor Vision DefectsGenes RecessiveLocus (genetics)Gene mutationBiologyTOTAL COLOURBLINDNESSIon ChannelsCLONINGDogscyclic nucleotide-gated channelGNAT2GeneticsmedicineLOCUSAnimalsHumansMissense mutationNeurosensory disorders [UMCN 3.3]ACHM3 locusDog DiseasesAlleleAllelesGenetics (clinical)Geneticstotal colorblindnessGNAT2PHOTORECEPTORSDYSTROPHYmedicine.diseaseCONE DEGENERATIONGENEeye diseasesPhenotypeEvaluation of complex medical interventions [NCEBP 2]MutationRetinal Cone Photoreceptor Cellssense organsachromatopsiarod monochromacyALPHA-SUBUNIThuman activities
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Impact Of The Pretreatment Characteristics As Well As Cyto- and Molecular-Genetic Profile On Outcome After Relapse In Acute Myeloid Leukemia

2013

Abstract Background Cyto- and molecular-genetic abnormalities evaluated at initial diagnosis are the most powerful prognostic and in part also predictive markers in acute myeloid leukemia (AML) with regard to achievement of complete remission (CR) and survival. Nonetheless, after relapse the prognostic impact of clinical characteristics and genetic abnormalities assessed at initial diagnosis with respect to achievement of subsequent CR and survival are less clear. Aims To evaluate the probability of CR achievement and survival in relapsed AML patients in correlation to clinical characteristics and genetic abnormalities assessed at initial diagnosis as well as treatment strategy. Methods The…

Acute promyelocytic leukemiaOncologymedicine.medical_specialtyChemotherapybusiness.industrymedicine.medical_treatmentImmunologySalvage therapyCell BiologyHematologyHematopoietic stem cell transplantationmedicine.diseasePomalidomideBiochemistryChemotherapy regimenSurgeryInternal medicineCEBPACytarabineMedicinebusinessmedicine.drugBlood
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