Search results for "Mg"

showing 10 items of 492 documents

Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly

2021

International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum associated with it. Previous studies identified four genes within the approximately 300 Kb minimal critical region including two candidate protein coding genes: KATNAL1 and HMGB1. To date, no patients carrying a sequence-level variant or a single gene deletion in HMGB1 or KATNAL1 have been described. Here we report six patients with loss-of-function variants involving HMGB1 and who had phenotypic features similar to the previously described 13q12.3 m…

Male0301 basic medicineHeterozygoteMicrocephalyAdolescentDNA Copy Number VariationsLanguage delay[SDV]Life Sciences [q-bio]KaryotypeInheritance Patternschemical and pharmacologic phenomena030105 genetics & heredityBiologydysmorphic featuresloss of function mutation03 medical and health sciencesExome SequencingIntellectual disabilityGeneticsmedicineHumansGenetic Predisposition to DiseaseHMGB1 ProteinChildGeneGenetic Association StudiesIn Situ Hybridization FluorescenceGenetics (clinical)Loss functionGeneticsHMGB1FaciesExonsdevelopmental disabilitiesMicrodeletion syndromemedicine.diseasePhenotypePhenotype030104 developmental biologyChild PreschoolMicrocephalyFemaleHaploinsufficiency
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Administration of all‐ trans retinoic acid after experimental traumatic brain injury is brain protective

2020

BACKGROUND AND PURPOSE: All‐trans retinoic acid (ATRA) is a vitamin A metabolite, important in the developing and mature brain. Pre‐injury ATRA administration ameliorates ischaemic brain insults in rodents. This study examined the effects of post‐traumatic ATRA treatment in experimental traumatic brain injury (TBI). EXPERIMENTAL APPROACH: Male adult mice were subjected to the controlled cortical impact model of TBI or sham procedure and killed at 7 or 30 days post‐injury (dpi). ATRA (10 mg kg−1, i.p.) was given immediately after the injury and 1, 2 and 3 dpi. Neurological function and sensorimotor coordination were evaluated. Brains were processed for (immuno‐) histological, mRNA and protei…

Male0301 basic medicineTraumatic brain injuryRetinoic acidTretinoinPharmacologyHippocampal formationHMGB1Mice03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBrain Injuries TraumaticmedicineAnimalsInflammationPharmacologyMicrogliabiologybusiness.industryBrainmedicine.diseaseGranule cellResearch PapersAstrogliosis030104 developmental biologymedicine.anatomical_structurechemistryBlood-Brain BarrierApoptosisbiology.proteinbusiness030217 neurology & neurosurgeryBritish Journal of Pharmacology
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Patients experiencing statin-induced myalgia exhibit a unique program of skeletal muscle gene expression following statin re-challenge

2017

Statins, the 3-hydroxy-3-methyl-glutaryl (HMG)-CoA reductase inhibitors, are widely prescribed for treatment of hypercholesterolemia. Although statins are generally well tolerated, up to ten percent of statin-treated patients experience myalgia symptoms, defined as muscle pain without elevated creatinine phosphokinase (CPK) levels. Myalgia is the most frequent reason for discontinuation of statin therapy. The mechanisms underlying statin myalgia are not clearly understood. To elucidate changes in gene expression associated with statin myalgia, we compared profiles of gene expression in skeletal muscle biopsies from patients with statin myalgia who were undergoing statin re-challenge (cases)…

Male0301 basic medicinemyalgiaGene Expressionlcsh:MedicineApoptosis030204 cardiovascular system & hematologyPathology and Laboratory MedicineBioinformaticsBiochemistry0302 clinical medicineMedicine and Health SciencesGene Regulatory Networkslcsh:ScienceMusculoskeletal SystemEnergy-Producing OrganellesMyositisRegulation of gene expressionMultidisciplinaryCell DeathbiologyMusclesDrugsMiddle AgedMitochondriaCell ProcessesHMG-CoA reductaseFemalelipids (amino acids peptides and proteins)AnatomyCellular Structures and Organellesmedicine.symptomResearch ArticleSenescencemedicine.medical_specialtyStatinmedicine.drug_classPainBioenergeticsPolymorphism Single Nucleotide03 medical and health sciencesSigns and SymptomsDiagnostic MedicineInternal medicineGeneticsmedicineHumansGene Regulationcardiovascular diseasesMuscle SkeletalAgedPharmacologybusiness.industrylcsh:RStatinsBiology and Life SciencesComputational Biologynutritional and metabolic diseasesMyalgiaCell Biologymedicine.disease030104 developmental biologyEndocrinologyGene Expression RegulationSkeletal MusclesLeukocytes Mononuclearbiology.proteinProtein prenylationlcsh:QHydroxymethylglutaryl-CoA Reductase InhibitorsSLCO1B1businessPLOS ONE
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Influence of different attentional focus on EMG amplitude and contraction duration during the bench press at different speeds

2018

The purpose of this study was to investigate whether using different focus affects electromyographic (EMG) amplitude and contraction duration during bench press performed at explosive and controlled speeds. Eighteen young male individuals were familiarized with the procedure and performed the one-maximum repetition (1RM) test in the first session. In the second session, participants performed the bench press exercise at 50% of the 1RM with 3 different attentional focuses (regular focus on moving the load vs contracting the pectoralis vs contracting the triceps) at 2 speed conditions (controlled vs maximal speed). During the controlled speed condition, focusing on using either the pectoralis…

MaleAdultmedicine.medical_specialtyContraction (grammar)Weight LiftingPhysical Therapy Sports Therapy and RehabilitationElectromyographyBench pressPectoralis Musclespower03 medical and health sciences0302 clinical medicinePhysical medicine and rehabilitationEMGJournal ArticleMedicineHumansAttentionOrthopedics and Sports MedicineAttention/physiologyMuscle StrengthMuscle SkeletalPectoralis MuscleInstructionYoung maleSimulationPectoralis Muscles/physiologymedicine.diagnostic_testbusiness.industryElectromyographyResistance Training030229 sport sciencesEMG amplitudeWeight liftingMuscle Skeletal/physiologyinternal focusMuscle Strength/physiologymedicine.symptombusinessstrength030217 neurology & neurosurgeryWeight Lifting/physiologyMuscle ContractionMuscle contractionMuscle Contraction/physiology
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Shell/core differences in mu- and delta-opioid receptor modulation of dopamine efflux in nucleus accumbens

2008

The mu- and delta-opioid receptors located at the terminal level in nucleus accumbens are involved in the opiate modulation of dopamine release in this brain area. However, recent studies suggest that the effects of opioid drugs on the core subregion of nucleus accumbens may completely differ from those observed in the shell. We used in vivo microdialysis to simultaneously apply selective mu- and delta-opioid receptor agonists and to measure extracellular levels of dopamine in three subregions of the accumbens, namely shell, core, and the transition zone between them. The regional analysis of these subregions of the accumbens demonstrated that basal levels of dopamine and its metabolites we…

MaleAgonistTime FactorsEnkephalinmedicine.drug_classDopamineMicrodialysisReceptors Opioid muPharmacologyNucleus accumbensNucleus Accumbensδ-opioid receptorCellular and Molecular Neurosciencechemistry.chemical_compoundDopamine receptor D1DopamineReceptors Opioid deltamedicineAnimalsRats WistarPharmacologyDopaminergicHomovanillic AcidEnkephalin Ala(2)-MePhe(4)-Gly(5)-RatsAnalgesics OpioidDAMGOchemistry34-Dihydroxyphenylacetic AcidEnkephalin D-Penicillamine (25)-medicine.drugNeuropharmacology
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Constitutive expression and inducibility of O6-methylguanine-DNA methyltransferase and N-methylpurine-DNA glycosylase in rat liver cells exhibiting d…

1995

AbstractWe have analyzed the expression of the DNA repair genes O6-methylguanine-DNA methyltransferase (MGMT) and N-methylpurine-DNA glycosylase (MPG) at RNA and protein activity level in primary rat hepatocytes in vitro and various rat hepatoma cell lines exhibiting different status of differentiation. The basal level of MGMT mRNA and activity correlated well with the degree of differentiation, as measured by tyrosine aminotransferase (TAT) mRNA expression. Induction of MGMT mRNA and protein activity by X-ray and Nmethyl-N′-nitro-N-nitrosoguanidine (MNNG) treatment was most pronounced in the well-differentiated hepatocytes and in various differentiated hepatoma cell lines (up to 6-fold). T…

MaleAlkylating AgentsMethyltransferaseDNA repairDNA repairBiology(Rat)DNA methyltransferaseCell LineDNA GlycosylasesRats Sprague-DawleyO(6)-Methylguanine-DNA MethyltransferaseTyrosine aminotransferaseGene expressionAnimalsHepatocyteRNA MessengerN-Glycosyl HydrolasesMolecular BiologyneoplasmsMessenger RNACell DifferentiationMethyltransferasesMolecular biologydigestive system diseasesRatsPerfusionLiverCell cultureDNA glycosylaseEnzyme InductionMolecular MedicineGene expressionMGMTMPGBiochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
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Haem oxygenase-1 down-regulates high mobility group box 1 and matrix metalloproteinases in osteoarthritic synoviocytes

2010

Objectives. Activation of osteoarthritic synoviocytes by pro-inflammatory cytokines results in the release of biochemical mediators such as MMPs and high mobility group box 1 (HMGB1). Extracellular HMGB1 can play an important role in joint diseases as a mediator of synovitis. We have shown previously that haem oxygenase-1 (HO-1) exerts protective effects during inflammatory responses. In this study, we have examined whether HO-1 induction would be an effective strategy to control MMP and HMGB1 production in osteoarthritic synoviocytes. Methods. Osteoarthritic synoviocytes were obtained by digestion with collagenase and cultured until third passage. HO-1 was induced by cobalt protoporphyrin …

MaleAnalysis of VarianceSmall interfering RNASynovial MembraneDown-RegulationTransfectionBiologyMatrix metalloproteinaseHMGB1COPPMolecular biologyMatrix MetalloproteinasesRheumatologyOsteoarthritisGene expressionbiology.proteinHumansGene silencingInterstitial collagenaseFemalePharmacology (medical)HMGB1 ProteinCells CulturedHeme Oxygenase-1AgedRheumatology
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Genetic risk profiles for Alzheimer's disease: Integration of APOE genotype and variants that up-regulate inflammation

2007

BACKGROUND: A number of studies associate Alzheimer's disease with APOE polymorphism and alleles which favor the increased expression of immunological mediators such as cytokines or acute phase proteins. We integrated this information to better define risk and determine the relative importance of APOE and immunological mediators. METHODS: We investigated functional gene variants for APOE, IL-10 (3 loci), ACT (2 loci), HMGCR, IL-1alpha, IL-1beta, TNF-alpha, IFN-gamma, and IL-6 found for 260 AD patients and 190 controls enrolled in Northern Italy. A fuzzy latent classification approach, namely grade-of-membership analysis (GoM), was taken to identify extreme pure type risk sets, or profiles. …

MaleApolipoprotein EAgingGenotypeDiseaseBiologyApolipoproteins EAlzheimer DiseaseRisk FactorsGenotypeHumansGenetic Predisposition to DiseaseCognitive declineAlleleGeneAgedAged 80 and overGeneticsPolymorphism GeneticGeneral NeuroscienceAge FactorsAcute-phase proteinGenetic VariationAPOE IL-10 ACT HMGCR IL-1alpha IL-1beta TNF-alpha IFN-gamma IL-6 SNPs Grade of memebership Genetic risk profile Alzheimer's diseaseMiddle AgedUp-RegulationFemaleNeurology (clinical)Gene polymorphismInflammation MediatorsGeriatrics and GerontologyDevelopmental Biology
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Effects of peroxisome proliferator-activated receptor alpha activation on pathways contributing to cholesterol homeostasis in rat hepatocytes

2004

International audience; Peroxisome proliferator-activated receptor alpha (PPARa) activation by fibrates controls expression of several genes involved in hepatic cholesterol metabolism. Other genes could be indirectly controlled in response to changes in cellular cholesterol availability. To further understand how fibrates may affect cholesterol synthesis, we investigated in parallel the changes in the metabolic pathways contributing to cholesterol homeostasis in liver. Ciprofibrate increased HMG-CoA reductase and FPP synthase mRNA levels in rat hepatocytes, together with cholesterogenesis from [14C] acetate and [3H] mevalonate. The up-regulation observed in fenofibrate- and WY-14,643-treate…

MaleCarboxy-Lyases[SDV]Life Sciences [q-bio]Receptors Cytoplasmic and NuclearAcetatesClofibric AcidMicechemistry.chemical_compound0302 clinical medicineMice KnockoutCarbon Isotopes0303 health sciencesFenofibrateFibric AcidsPeroxisomeUp-RegulationHMG-COA REDUCTASEDNA-Binding ProteinsCholesterolCHOLESTEROL METABOLISM030220 oncology & carcinogenesisHMG-CoA reductaseCholesteryl esterPeroxisome Proliferatorslipids (amino acids peptides and proteins)Peroxisome proliferator-activated receptor alphaSterol Regulatory Element Binding Protein 1Cell DivisionSignal Transductionmedicine.drugmedicine.medical_specialtyMevalonic AcidPeroxisome ProliferationBiologyCholesterol 7 alpha-hydroxylaseBile Acids and Salts03 medical and health sciencesInternal medicinemedicineAnimalsRNA MessengerMolecular Biology030304 developmental biologyCell BiologyRAT HEPATOCYTEPPARA-NULL MOUSERatsSterol regulatory element-binding proteinMice Inbred C57BLPyrimidinesEndocrinologychemistryFIBRATECCAAT-Enhancer-Binding ProteinsHepatocytesbiology.proteinHydroxymethylglutaryl CoA ReductasesTranscription Factors
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High mobility group box 1 potentiates the pro-inflammatory effects of interleukin-1β in osteoarthritic synoviocytes

2010

Introduction High mobility group box 1 (HMGB1) is released by necrotic cells or secreted in response to inflammatory stimuli. Extracellular HMGB1 may act as a pro-inflammatory cytokine in rheumatoid arthritis. We have recently reported that HMGB1 is released by osteoarthritic synoviocytes after activation with interleukin-1beta (IL-1β) The present study investigated the role of HMGB1 in synovial inflammation in osteoarthritis (OA). Methods HMGB1 was determined in human synovium using immunohistochemistry, comparing normal to OA. OA synoviocytes were incubated with HMGB1 at 15 or 25 ng/ml in the absence or presence of IL-1β (10 ng/ml). Gene expression was analyzed by quantitative PCR and pro…

MaleChemokineMAP Kinase Signaling Systemmedicine.medical_treatmentInterleukin-1betaImmunologyInflammationchemical and pharmacologic phenomenaCCL2HMGB1p38 Mitogen-Activated Protein KinasesRheumatologySynovitisMatrix Metalloproteinase 13HumansMedicineImmunology and AllergyRNA MessengerHMGB1 ProteinExtracellular Signal-Regulated MAP KinasesCells CulturedAgedbiologybusiness.industrySynovial MembraneNF-kappa BOsteoarthritis Kneemedicine.diseaseImmunohistochemistryMolecular biologyCCL20Cytokinemedicine.anatomical_structurebiology.proteinFemaleMatrix Metalloproteinase 3Matrix Metalloproteinase 1Synovial membranemedicine.symptombusinessProto-Oncogene Proteins c-aktResearch ArticleArthritis Research & Therapy
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