Search results for "GENI"

showing 10 items of 6843 documents

Chronic inflammation: A key role in degeneration of bicuspid aortic valve.

2019

Abstract Introduction Bicuspid aortic valve (BAV) is the most common congenital valvular heart defect resulting from abnormal aortic cusp formation during heart development, where two of the three normal and equal sized cusps fuse into a single large cusp resulting in a two cusps aortic valve. Over the past years, much interest has been given in understanding the pathogenesis of BAV and its complications. In this review, we focused on the role of inflammation, involved in the degeneration of BAV and the development of its complications. Role of inflammation From a pathophysiological point of view, BAV may rapidly progress into aortic stenosis (AS) and is related to aortopathy. Several histo…

0301 basic medicineAortic valveHeart Defects Congenitalmedicine.medical_specialtyBicuspid aortic valveCongenital valvular heart defectHeart Valve DiseasesInflammation030204 cardiovascular system & hematologyPathogenesis03 medical and health sciences0302 clinical medicineBicuspid aortic valveBicuspid Aortic Valve DiseaseInternal medicinemedicineHumanscardiovascular diseasesEndothelial dysfunctionMolecular BiologyInflammationHeart developmentNeovascularization Pathologicbusiness.industryCalcinosisChronic inflammationAortic Valve Stenosismedicine.diseaseStenosis030104 developmental biologymedicine.anatomical_structureAortic ValveChronic Diseasecardiovascular systemCardiologyAortic valve calcificationmedicine.symptombusinessCardiology and Cardiovascular MedicineJournal of molecular and cellular cardiology
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Clearing Amyloid-β through PPARγ/ApoE Activation by Genistein is a Treatment of Experimental Alzheimer’s Disease

2016

Amyloid-b (Ab) clearance from brain, which is decreased in Alzheimer's disease, is facilitated by apolipoprotein E (ApoE). ApoE is upregulated by activation of the retinoid X receptor moiety of the RXR/PPAR dimeric receptor. As we have previously demonstrated, estrogenic compounds, such as genistein, have antioxidant activity, which can be evidenced by increased expression of manganese superoxide dismutase (MnSOD). Furthermore, genistein is a non-toxic, well-tested, and inexpensive drug that activates PPARg receptor. We isolated and cultured cortical astrocytes from dissected cerebral cortices of neonatal mice (C57BL/6 J). Preincubation with genistein (5 mM) for 24 hours, prior to the addit…

0301 basic medicineApolipoprotein EApolipoprotein BPeroxisome proliferator-activated receptorGenisteinPlaque Amyloid01 natural sciencesBiochemistrychemistry.chemical_compound0302 clinical medicine030212 general & internal medicineReceptorCells CulturedNootropic Agentschemistry.chemical_classificationbiologyGeneral NeuroscienceBrainGeneral MedicineGenisteinPsychiatry and Mental healthClinical PsychologyNeuroprotective AgentsFemalePeroxisome proliferator-activated receptor gammamedicine.medical_specialtyTetrahydronaphthalenesMice TransgenicRetinoid X receptor03 medical and health sciencesApolipoproteins EDownregulation and upregulationAlzheimer DiseaseIn vivoPhysiology (medical)Internal medicineAvoidance LearningmedicineAnimalsHabituation PsychophysiologicMaze LearningAmyloid beta-PeptidesRecognition PsychologyOlfactory Perception0104 chemical sciencesMice Inbred C57BLPPAR gamma010404 medicinal & biomolecular chemistryDisease Models Animal030104 developmental biologyEndocrinologychemistryBexaroteneAstrocytesbiology.proteinPhytoestrogensGeriatrics and Gerontology030217 neurology & neurosurgeryJournal of Alzheimer's Disease
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Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study

2017

Abstract Background Familial hypercholesterolemia (FH) is an autosomal dominant disease characterized by elevated plasma levels of LDL-cholesterol that confers an increased risk of premature atherosclerotic cardiovascular disease. Early identification and treatment of FH patients can improve prognosis and reduce the burden of cardiovascular mortality. Aim of this study was to perform the mutational analysis of FH patients identified through a collaboration of 20 Lipid Clinics in Italy (LIPIGEN Study). Methods We recruited 1592 individuals with a clinical diagnosis of definite or probable FH according to the Dutch Lipid Clinic Network criteria. We performed a parallel sequencing of the major…

0301 basic medicineApolipoprotein ECandidate geneSettore MED/09 - Medicina InternaDatabases FactualApolipoprotein BDNA Mutational AnalysisFamilial hypercholesterolemia030204 cardiovascular system & hematologyCompound heterozygosityPCSK90302 clinical medicineRisk FactorsReceptorsGeneticsHomozygoteAutosomal dominant traitPathogenic variantsGeneral MedicinePrognosisAPOB; Familial hypercholesterolemia; LDLR; PCSK9; Pathogenic variantsCholesterolPhenotypeItalyAutosomal Recessive HypercholesterolemiaApolipoprotein B-100lipids (amino acids peptides and proteins)Proprotein Convertase 9APOBCardiology and Cardiovascular MedicinePreliminary DataGenetic MarkersFamilial hypercholesterolemiaLDLRPCSK9APOBPathogenic variantsHeterozygoteFamilial hypercholesterolemiaBiologyPathogenic variantLDLHyperlipoproteinemia Type II03 medical and health sciencesDatabasesmedicineInternal MedicineHumansAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Internal Medicine; Cardiology and Cardiovascular MedicineGenetic Predisposition to DiseaseFactualPCSK9Settore MED/13 - ENDOCRINOLOGIAAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Cardiology and Cardiovascular Medicine; Internal Medicinemedicine.diseaseAtherosclerosis030104 developmental biologyLDLRReceptors LDLMutationbiology.proteinAPOB; Familial hypercholesterolemia; LDLR; Pathogenic variants; PCSK9; Apolipoprotein B-100; Atherosclerosis; Cholesterol; DNA Mutational Analysis; Databases Factual; Genetic Markers; Genetic Predisposition to Disease; Heterozygote; Homozygote; Humans; Hyperlipoproteinemia Type II; Italy; Phenotype; Preliminary Data; Prognosis; Proprotein Convertase 9; Receptors LDL; Risk Factors; Mutation; Internal Medicine; Cardiology and Cardiovascular Medicine
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Low-density lipoprotein receptor-related protein 1 is a novel modulator of radial glia stem cell proliferation, survival, and differentiation

2016

The LDL family of receptors and its member low-density lipoprotein receptor-related protein 1 (LRP1) have classically been associated with a modulation of lipoprotein metabolism. Current studies, however, indicate diverse functions for this receptor in various aspects of cellular activities, including cell proliferation, migration, differentiation, and survival. LRP1 is essential for normal neuronal function in the adult CNS, whereas the role of LRP1 in development remained unclear. Previously, we have observed an upregulation of LewisX (LeX) glycosylated LRP1 in the stem cells of the developing cortex and demonstrated its importance for oligodendrocyte differentiation. In the current study…

0301 basic medicineApolipoprotein EOligodendrocyte differentiationBiologyLRP1Cell biology03 medical and health sciencesCellular and Molecular NeuroscienceAstrocyte differentiation030104 developmental biologyNeurologyConditional gene knockoutStem cellProgenitor cellProtein kinase BGlia
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Clearing Amyloid-β Through PPARγ/ApoE Activation by Genistein is an Experimental Treatment of Alzheimer's Disease

2016

Amyloid-β (Aβ) clearance from brain, which is decreased in Alzheimer’s disease, is facilitated by apolipoprotein E. Apo E is up-regulated by activation of the retinoid X receptor moiety of the RXR/PPARγ dimeric receptor. Genistein, a non-toxic, well tested and inexpensive drug has a multifaceted protective effect: antioxidant (because it stimulates the expression of antioxidant genes), anit-inflammatory and stimulator of activates the PPARγ receptor, which results in increased expression of ApoE. Treatment of an Alzheimer’s mouse model with genistein results in a remarkable and rapid improvement in various parameters of cognition, such as hippocampal learning, recognition memory, implicit m…

0301 basic medicineApolipoprotein Emedicine.medical_specialtyAntioxidantApolipoprotein Bbiologymedicine.medical_treatmentGenisteinHippocampal formationRetinoid X receptorBiochemistry03 medical and health scienceschemistry.chemical_compound030104 developmental biologyEndocrinologychemistryIn vivoPhysiology (medical)Internal medicinemedicinebiology.proteinReceptorFree Radical Biology and Medicine
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Theabrownin triggersDNAdamage to suppress human osteosarcoma U2OScells by activating p53 signalling pathway

2018

Abstract Osteosarcoma becomes the second leading cause of cancer death in the younger population. Current outcomes of chemotherapy on osteosarcoma were unsatisfactory to date, demanding development of effective therapies. Tea is a commonly used beverage beneficial to human health. As a major component of tea, theabrownin has been reported to possess anti‐cancer activity. To evaluate its anti‐osteosarcoma effect, we established a xenograft model of zebrafish and employed U2OS cells for in vivo and in vitro assays. The animal data showed that TB significantly inhibited the tumour growth with stronger effect than that of chemotherapy. The cellular data confirmed that TB‐triggered DNA damage an…

0301 basic medicineApoptosisCatechinHistones0302 clinical medicineRNA Small InterferingZebrafisheducation.field_of_studyCaspase 3ChemistryCell CycleGene Expression Regulation NeoplasticLarva030220 oncology & carcinogenesisMolecular MedicineOsteosarcomaOriginal ArticlePoly(ADP-ribose) PolymerasesSignal TransductionCell SurvivalDNA damagePoly ADP ribose polymerasePopulationBone NeoplasmsCaspase 303 medical and health sciencesAnimal dataosteosarcomaCell Line TumormedicineAnimalsHumanstheabrownineducationP53OsteoblastsMesenchymal Stem CellsOriginal ArticlesCell Biologymedicine.diseaseAntineoplastic Agents PhytogenicXenograft Model Antitumor AssaysKi-67 Antigen030104 developmental biologyApoptosisCell cultureCancer researchDNA damageCisplatinTumor Suppressor Protein p53Journal of Cellular and Molecular Medicine
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Contribution of aerobic anoxygenic phototrophic bacteria to total organic carbon pool in aquatic system of subtropical karst catchments, Southwest Ch…

2017

Aerobic anoxygenic phototrophic bacteria may play a particular role in carbon cycling of aquatic systems. However, little is known about the interaction between aerobic anoxygenic phototrophic bacteria and hydrochemistry in groundwater-surface water exchange systems of subtropical karst catchments. We carried out a detailed study on the abundance of aerobic anoxygenic phototrophic bacteria and bacterioplankton, hydrochemistry and taxonomy of bacterioplankton in the Maocun watershed, Southwest China, an area with karst geological background. Our results revealed that bacteria are the important contributors to total organic carbon source/sequestration in the groundwater-surface water of this …

0301 basic medicineAquatic OrganismsChinaNitrogen030106 microbiologyBiologyGlobal WarmingApplied Microbiology and BiotechnologyMicrobiologyCarbon cycle03 medical and health sciencesRNA Ribosomal 16SGroundwaterTotal organic carbonEcologyEcologyAquatic ecosystemBetaproteobacteriaBacterioplanktonbiology.organism_classificationCarbonBacteria AerobicOxygenPhototrophic Processes030104 developmental biologyAerobic anoxygenic phototrophic bacteriaProteobacteriaBacteriaPolynucleobacterFEMS Microbiology Ecology
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Risk Assessment of Hip Fracture Based on Machine Learning

2020

[EN] Identifying patients with high risk of hip fracture is a great challenge in osteoporosis clinical assessment. Bone Mineral Density (BMD) measured by Dual-Energy X-Ray Absorptiometry (DXA) is the current gold standard in osteoporosis clinical assessment. However, its classification accuracy is only around 65%. In order to improve this accuracy, this paper proposes the use of Machine Learning (ML) models trained with data from a biomechanical model that simulates a sideways-fall. Machine Learning (ML) models are models able to learn and to make predictions from data. During a training process, ML models learn a function that maps inputs and outputs without previous knowledge of the probl…

0301 basic medicineArticle SubjectProcess (engineering)Computer scienceQH301-705.5INGENIERIA MECANICAmedia_common.quotation_subjectOsteoporosisBiomedical EngineeringMedicine (miscellaneous)030209 endocrinology & metabolismBioengineeringMachine learningcomputer.software_genreRisk AssessmentMachine Learning03 medical and health sciencesHip Fracture0302 clinical medicinemedicine03.- Garantizar una vida saludable y promover el bienestar para todos y todas en todas las edadesSensitivity (control systems)Biology (General)media_commonHip fractureVariablesbusiness.industryGold standard (test)medicine.diseaseRandom forest030104 developmental biologyArtificial intelligenceRisk assessmentbusinessLENGUAJES Y SISTEMAS INFORMATICOScomputerTP248.13-248.65Research ArticleBiotechnologyApplied Bionics and Biomechanics
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Altered gastrointestinal motility in an animal model of Lesch-Nyhan disease.

2018

Mutations in the HGPRT1 gene, which encodes hypoxanthine-guanine phosphoribosyltransferase (HGprt), housekeeping enzyme responsible for recycling purines, lead to Lesch-Nyhan disease (LND). Clinical expression of LND indicates that HGprt deficiency has adverse effects on gastrointestinal motility. Therefore, we aimed to evaluate intestinal motility in HGprt knockout mice (HGprt(−)). Spontaneous and neurally evoked mechanical activity was recorded in vitro as changes in isometric tension in circular muscle strips of distal colon. HGprt(−) tissues showed a lower in amplitude spontaneous activity and atropine-sensitivity neural contraction compared to control mice. The responses to carbachol a…

0301 basic medicineAtropineMaleHypoxanthine PhosphoribosyltransferaseLesch-Nyhan SyndromeDopaminemedicine.disease_causeSettore BIO/09 - FisiologiaLesch-NyhanMice0302 clinical medicineEnzyme InhibitorsEvoked PotentialsMyenteric plexusHGprt deficient miceNeurotransmitter AgentsBrainNG-Nitroarginine Methyl EsterKnockout mouseCytokinesAcetylcholinemedicine.drugmedicine.medical_specialtyCarbacholTyrosine 3-MonooxygenaseColonMotilityMice TransgenicIn Vitro TechniquesEndocrine and Autonomic SystemArticleContractility03 medical and health sciencesCellular and Molecular NeuroscienceDopamineInternal medicinemedicineAnimalsCytokineEndocrine and Autonomic Systemsbusiness.industryMuscle SmoothBenzazepinesMice Inbred C57BLDisease Models Animal030104 developmental biologyEndocrinologyGene Expression RegulationHGprt enzymeFaceOxidative streCarbacholNeurology (clinical)Lipid PeroxidationbusinessGastrointestinal MotilityReactive Oxygen Species030217 neurology & neurosurgeryOxidative stressAutonomic neuroscience : basicclinical
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Progranulin overexpression in sensory neurons attenuates neuropathic pain in mice: Role of autophagy

2016

Peripheral or central nerve injury is a frequent cause of chronic pain and the mechanisms are not fully understood. Using newly generated transgenic mice we show that progranulin overexpression in sensory neurons attenuates neuropathic pain after sciatic nerve injury and accelerates nerve healing. A yeast-2-hybrid screen revealed putative interactions of progranulin with autophagy-related proteins, ATG12 and ATG4b. This was supported by colocalization and proteomic studies showing regulations of ATG13 and ATG4b and other members of the autophagy network, lysosomal proteins and proteins involved in endocytosis. The association of progranulin with the autophagic pathway was functionally confi…

0301 basic medicineAutophagy-Related ProteinsMiceProgranulinsGanglia SpinalDorsal root gangliaGranulinsPain MeasurementCD11b AntigenMicrofilament ProteinsChronic painSciatic nerve injuryCysteine Endopeptidasesmedicine.anatomical_structureNociceptionNeurologyNeuropathic painIntercellular Signaling Peptides and Proteinsmedicine.symptomMicrotubule-Associated ProteinsNerve injuryProgranulinSensory Receptor CellsGreen Fluorescent ProteinsPainMice Transgeniclcsh:RC321-571ATG1203 medical and health sciencesLysosomal-Associated Membrane Protein 1mental disordersmedicineAutophagyAnimalslcsh:Neurosciences. Biological psychiatry. NeuropsychiatryActivating Transcription Factor 3Sensory neuronbusiness.industryAutophagyCalcium-Binding ProteinsNerve injurymedicine.diseaseSensory neuronMice Inbred C57BLDisease Models Animal030104 developmental biologyGene OntologyNeuralgiabusinessApoptosis Regulatory ProteinsNeuroscienceNeurobiology of Disease
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