Search results for "GAM"

showing 10 items of 5334 documents

Are mutations in the dhrs9 gene causally linked to epilepsy? A case report

2020

The DHRS9 gene is involved in several pathways including the synthesis of allopregnanolone from progesterone. Allopregnanolone is a positive modulator of gamma aminobutyric acid (GABA) action and plays a role in the control of neuronal excitability and seizures. Whole-exome sequencing performed on a girl with an early onset epilepsy revealed that she was a compound heterozygote for two novel missense mutations of the DHRS9 gene likely to disrupt protein function. No previous studies have reported the implication of this gene in epilepsy. We discuss a new potential pathogenic mechanism underlying epilepsy in a child, due to a defective progesterone pathway.

0301 basic medicineCase ReportCompound heterozygosityBioinformaticsAllopregnanolone DHRS9 Exome GABA NGS Temporal lobe epilepsygamma-Aminobutyric acid03 medical and health scienceschemistry.chemical_compoundEpilepsyGABA0302 clinical medicinemedicineMissense mutationGeneExomelcsh:R5-920business.industryMechanism (biology)DHRS9AllopregnanoloneallopregnanoloneGeneral Medicinetemporal lobe epilepsymedicine.disease030104 developmental biologychemistryNGSlcsh:Medicine (General)business030217 neurology & neurosurgeryexomemedicine.drug
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The Role of Nrf2 and PPARγ in the Improvement of Oxidative Stress in Hypertension and Cardiovascular Diseases

2020

Reactive oxygen species are an important element of redox regulation in cells and tissues. During physiological processes, molecules undergo chemical changes caused by reduction and oxidation reactions. Free radicals are involved in interactions with other molecules, leading to oxidative stress. Oxidative stress works two ways depending on the levels of oxidizing agents and products. Excessive action of oxidizing agents damages biomolecules, while a moderate physiological level of oxidative stress (oxidative eustress) is necessary to control life processes through redox signaling required for normal cellular operation. High levels of reactive oxygen species (ROS) mediate pathological change…

0301 basic medicineCell signalingNF-E2-Related Factor 2PhysiologyBlood PressureReviewOxidative phosphorylationmedicine.disease_cause03 medical and health sciences0302 clinical medicinemedicineAnimalsHumansProtein kinase BPI3K/AKT/mTOR pathwaychemistry.chemical_classificationReactive oxygen speciesKelch-Like ECH-Associated Protein 1ChemistryGeneral MedicineKEAP1Antioxidant Response ElementsNFE2L2Cell biologyPPAR gammaOxidative Stress030104 developmental biologyCardiovascular DiseasesHypertensionReactive Oxygen Species030217 neurology & neurosurgeryOxidative stressSignal TransductionPhysiological Research
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Conversion of Nonproliferating Astrocytes into Neurogenic Neural Stem Cells: Control by FGF2 and Interferon-gamma

2016

Abstract Conversion of astrocytes to neurons, via de-differentiation to neural stem cells (NSC), may be a new approach to treat neurodegenerative diseases and brain injuries. The signaling factors affecting such a cell conversion are poorly understood, and they are hard to identify in complex disease models or conventional cell cultures. To address this question, we developed a serum-free, strictly controlled culture system of pure and homogeneous “astrocytes generated from murine embryonic stem cells (ESC).” These stem cell derived astrocytes (mAGES), as well as standard primary astrocytes resumed proliferation upon addition of FGF. The signaling of FGF receptor tyrosine kinase converted G…

0301 basic medicineCell signalingNeurogenesisBiologyInterferon-gammaMice03 medical and health sciences0302 clinical medicineNeural Stem CellsNeurosphereddc:570medicineAnimalsCell ProliferationEpidermal Growth FactorMultipotent Stem CellsCell CycleNeurogenesisMouse Embryonic Stem CellsCell BiologyAnatomyCell DedifferentiationEmbryonic stem cellNeural stem cellCell biologyNeuroepithelial cell030104 developmental biologymedicine.anatomical_structureGene Expression RegulationAstrocytesMolecular MedicineFibroblast Growth Factor 2Stem cell030217 neurology & neurosurgerySignal TransductionDevelopmental BiologyAstrocyte
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Tnfaip3 expression in pulmonary conventional type 1 Langerin‐expressing dendritic cells regulates T helper 2‐mediated airway inflammation in mice

2020

Abstract Background Conventional type 1 dendritic cells (cDC1s) control anti‐viral and anti‐tumor immunity by inducing antigen‐specific cytotoxic CD8+ T‐cell responses. Controversy exists whether cDC1s also control CD4+ T helper 2 (Th2) cell responses, since suppressive and activating roles have been reported. DC activation status, controlled by the transcription factor NF‐κB, might determine the precise outcome of Th‐cell differentiation upon encounter with cDC1s. To investigate the role of activated cDC1s in Th2‐driven immune responses, pulmonary cDC1s were activated by targeted deletion of A20/Tnfaip3, a negative regulator of NF‐κB signaling. Methods To target pulmonary cDC1s, Cd207 (Lan…

0301 basic medicineCellDUSTCD8-Positive T-LymphocytesINHALED ANTIGENTh2&#8208Mice0302 clinical medicineTnfaip3Medicine and Health SciencesCytotoxic T cellImmunology and AllergyInterferon gammaLungSensitizationMice KnockoutCONSTITUTIVE EXPRESSIONIFN-GAMMAbiologyCD8(+) T cellsType 1 conventional dendritic cellsIMMUNE-RESPONSES3. Good healthmedicine.anatomical_structureA20Original Articlemedicine.drugLangerinImmunologyCD8+ T cells03 medical and health sciencesImmune systemTh2 CellsImmunitymedicineAnimalsdriven airway inflammationCD103(+)InflammationBiology and Life SciencesTH2 RESPONSESA20/Tnfaip3Dendritic CellsTh2‐driven airway inflammationMice Inbred C57BL030104 developmental biologyinterferon gamma030228 respiratory systemImmunologybiology.proteinASTHMABasic and Translational Allergy ImmunologyORIGINAL ARTICLESCD8LUNGAllergy
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Local field potential activity dynamics in response to deep brain stimulation of the subthalamic nucleus in Parkinson's disease

2020

Abstract Local field potentials (LFPs) may afford insight into the mechanisms of action of deep brain stimulation (DBS) and potential feedback signals for adaptive DBS. In Parkinson's disease (PD) DBS of the subthalamic nucleus (STN) suppresses spontaneous activity in the beta band and drives evoked resonant neural activity (ERNA). Here, we investigate how STN LFP activities change over time following the onset and offset of DBS. To this end we recorded LFPs from the STN in 14 PD patients during long (mean: 181.2 s) and short (14.2 s) blocks of continuous stimulation at 130 Hz. LFP activities were evaluated in the temporal and spectral domains. During long stimulation blocks, the frequency …

0301 basic medicineChange over timeMaleDeep brain stimulationSteady state (electronics)Parkinson's diseasemedicine.medical_treatmentDeep Brain StimulationParkinson's disease610 Medicine & healthStimulationFeedback markersLocal field potentialHigh frequency oscillationsArticlelcsh:RC321-57103 medical and health sciences0302 clinical medicineSubthalamic NucleusmedicineHumansBeta (finance)Adaptive deep brain stimulation610 Medicine & healthEvoked PotentialsBeta oscillationslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryAgedLocal field potentialsChemistryParkinson DiseaseMiddle Agedmedicine.diseasenervous system diseasesSubthalamic nucleus030104 developmental biologysurgical procedures operativeNeurologynervous systemParkinson’s diseaseFemaleEvoked resonant neural activityGamma activityBeta RhythmNeuroscience030217 neurology & neurosurgery
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Anti-Inflammatory Activity of Citrus bergamia Derivatives: Where Do We Stand?

2016

Inflammatory diseases affect a large portion of the worldwide population, and chronic inflammation is a major risk factor for several dangerous pathologies. To limit the side effects of both synthetic and biological anti-inflammatory drugs, the use of herbal medicines, nutraceuticals and food supplements has increased tremendously as alternative and/or complementary medicine to treat several pathologies, including inflammation. During the last decades, the biological properties of Citrus bergamia (bergamot) derivatives have obtained important scientific achievements, and it has been suggested their use in a context of a multitarget pharmacological strategy. Here, we present an overview of t…

0301 basic medicineCitrusnatural productsAnti-Inflammatory AgentsCitruantioxidant activityPharmaceutical SciencebergamotReviewPharmacologyAnalytical Chemistry0302 clinical medicinecomplementary and alternative medicinesDrug DiscoveryCitrus bergamiaeducation.field_of_studyTraditional medicineMedicine (all)3. Good healthAnti-Inflammatory AgentChemistry (miscellaneous)030220 oncology & carcinogenesisMolecular MedicineComplementary medicineHumanmedicine.drug_classHerbal MedicinePopulationContext (language use)Natural productAnti-inflammatoryPlant ExtractAntioxidant activity; Bergamot; Citrus bergamia; Complementary and alternative medicines; Flavonoids; Inflammation; Natural products; Anti-Inflammatory Agents; Citrus; Herbal Medicine; Humans; Inflammation; Plant Extracts; Organic Chemistrylcsh:QD241-44103 medical and health sciencesNutraceuticallcsh:Organic chemistrySettore MED/43 - Medicina LegaleBiological propertymedicineHumansPhysical and Theoretical ChemistryeducationAntioxidant activity Bergamot Citrus bergamia Complementary and alternative medicines Flavonoids Inflammation Natural products Medicine (all);Plant Extractsbusiness.industryOrganic Chemistry030104 developmental biologyComplementary and alternative medicineinflammationflavonoidsCitrus bergamiaFlavonoidSettore BIO/14 - FarmacologiabusinessMolecules
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Artemisinin-treatment in pre-symptomatic APP-PS1 mice increases gephyrin phosphorylation at Ser270: a modification regulating postsynaptic GABAAR den…

2021

Abstract Artemisinins, a group of plant-derived sesquiterpene lactones, are efficient antimalarial agents. They also share anti-inflammatory and anti-viral activities and were considered for treatment of neurodegenerative disorders like Alzheimer’s disease (AD). Additionally, artemisinins bind to gephyrin, the multifunctional scaffold of GABAergic synapses, and modulate inhibitory neurotransmission in vitro. We previously reported an increased expression of gephyrin and GABAA receptors in early pre-symptomatic stages of an AD mouse model (APP-PS1) and in parallel enhanced CDK5-dependent phosphorylation of gephyrin at S270. Here, we studied the effects of artemisinin on gephyrin in the brain…

0301 basic medicineClinical BiochemistryNeurotransmissionInhibitory postsynaptic potentialHippocampusBiochemistryMice03 medical and health sciences0302 clinical medicinePostsynaptic potentialAnimalsPhosphorylationMolecular BiologyCells Culturedgamma-Aminobutyric AcidGephyrinbiologyGABAA receptorChemistryCyclin-dependent kinase 5Membrane ProteinsReceptors GABA-AArtemisininsCell biology030104 developmental biologynervous systemSynapsesbiology.proteinPhosphorylationGABAergicCarrier Proteins030217 neurology & neurosurgeryBiological Chemistry
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Chemopreventive effect of oleuropein in colitis-associated colorectal cancer in c57bl/6 mice

2015

Scope The main phenolic secoiridoid oleuropein and active constituent from olive tree (Olea europaea, Oleaceae), has demonstrated anti-inflammatory properties in intestinal inflammation and anti-tumoral effects in different cancer cells. In this study, we evaluated the chemoprevention of oleuropein in a model of azoxymethane (AOM)/Dextran sulfate sodium (DSS)-induced colorectal cancer (CRC) in C57BL/6 mice and the modulatory effect on the Th17 response in DSS acute colitis. Methods and results Oleuropein protected from AOM/DSS-induced CRC by improving clinical symptoms, disease activity index score as well as suppressed the growth and multiplicity of colonic tumors. Treatment with oleuropei…

0301 basic medicineColonColorectal cancerIridoid GlucosidesAzoxymethanePharmacology03 medical and health scienceschemistry.chemical_compound0302 clinical medicineOleuropeinRAR-related orphan receptor gammamedicineAnimalsAnticarcinogenic AgentsIridoidsColitisProtein kinase BAcute colitisCell ProliferationChemistryAzoxymethaneDextran SulfateNeoplasms ExperimentalColitismedicine.diseaseMice Inbred C57BL030104 developmental biology030220 oncology & carcinogenesisImmunologyCancer cellCytokinesTh17 CellsFemaleColorectal NeoplasmsFood ScienceBiotechnologyMolecular Nutrition & Food Research
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Differential Tissue Fatty Acids Profiling between Colorectal Cancer Patients with and without Synchronous Metastasis

2018

The early detection of colorectal cancer and determination of its metastatic potential are important factors to set up more efficacious therapeutic strategies. In the present study, we hypothesize that fatty acids analysis in colorectal cancer patients can discriminate between metastatic and non-metastatic patients. Fifty-one consecutive patients with histologically proven colorectal cancer were enrolled in the study and the presence of synchronous metastasis was detected in 25 of these 51 patients. Fatty acid profile analysis in red blood cell membranes was not able to discriminate the metastatic colorectal cancer patients from those without metastasis. However, significant differences in …

0301 basic medicineColorectal cancerCellCatalysisArticleMetastasisInorganic Chemistrylcsh:Chemistry03 medical and health sciences0302 clinical medicinelipidomic analysisFatty Acids Omega-6Fatty Acids Omega-3medicinecolon cancer; metastasis; lipidomic analysis; fatty acidsmetastasisHumansPhysical and Theoretical ChemistryNeoplasm Metastasisgamma-Linolenic AcidMolecular Biologylcsh:QH301-705.5Spectroscopychemistry.chemical_classificationbusiness.industryOrganic ChemistryFatty AcidsFatty acidGeneral Medicinemedicine.diseaseEicosapentaenoic acidComputer Science ApplicationsRed blood cell030104 developmental biologymedicine.anatomical_structurechemistrylcsh:Biology (General)lcsh:QD1-999colon cancerEicosapentaenoic Acid030220 oncology & carcinogenesisSynchronous metastasisCancer researchmetastasilipidomic analysibusinessColorectal NeoplasmsPolyunsaturated fatty acidInternational 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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