Search results for "skeletal"

showing 10 items of 3025 documents

p38α regulates actin cytoskeleton and cytokinesis in hepatocytes during development and aging.

2017

[Background]: Hepatocyte poliploidization is an age-dependent process, being cytokinesis failure the main mechanism of polyploid hepatocyte formation. Our aim was to study the role of p38α MAPK in the regulation of actin cytoskeleton and cytokinesis in hepatocytes during development and aging. [Methods]: Wild type and p38α liver-specific knock out mice at different ages (after weaning, adults and old) were used. [Results]: We show that p38α MAPK deficiency induces actin disassembly upon aging and also cytokinesis failure leading to enhanced binucleation. Although the steady state levels of cyclin D1 in wild type and p38α knock out old livers remained unaffected, cyclin B1- a marker for G2/M…

0301 basic medicineMaleAgingRHOAPhysiologylcsh:MedicineArp2/3 complexBiochemistryMitogen-Activated Protein Kinase 14Gene Knockout TechniquesMice0302 clinical medicineContractile ProteinsAnimal CellsMedicine and Health SciencesSmall interfering RNAsCell Cycle and Cell DivisionPost-Translational ModificationPhosphorylationlcsh:ScienceCytoskeletonCyclin B1Cells CulturedCellular SenescenceCytoskeletonMice KnockoutMultidisciplinarybiologyChemistryImmunohistochemistry3. Good healthCell biologyNucleic acidsLiverCell Processes030220 oncology & carcinogenesisCellular TypesAnatomyCellular Structures and OrganellesProtein BindingResearch ArticleMitosismacromolecular substancesProtein Serine-Threonine Kinases03 medical and health sciencesHsp27CyclinsGeneticsAnimalsNon-coding RNAActinCytokinesislcsh:RBiology and Life SciencesProteinsCell BiologyActin cytoskeletonActinsGene regulationCytoskeletal Proteins030104 developmental biologybiology.proteinHepatocytesRNAlcsh:QGene expressionProtein MultimerizationPhysiological ProcessesOrganism DevelopmentCytokinesisBiomarkersDevelopmental BiologyPloS one
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Six year adalimumab efficacy in steroid-dependent Crohn's disease patients: A prospective single-center real life study.

2016

Abstract Background Adalimumab is effective in the treatment of Crohn's disease. We have already reported data on the efficacy of adalimumab in 110 steroid-dependent patients. At the end of the study 90 patients (64.5%) maintained clinical remission. Aims To assess efficacy and safety of adalimumab after 6 years in patients of the original cohort who responded to treatment. Methods The present study is an extension of the published paper on 90/110 patients. We report results on clinical remission and safety of 6 year maintenance therapy with adalimumab. Results Of the original cohort 90 patients completed the study, 17 were lost to follow-up and 3 died. At the end of follow-up (74.16 ± 10.3…

0301 basic medicineMaleAnti-Inflammatory AgentsKaplan-Meier EstimateSingle CenterInflammatory bowel diseaseInflammatory bowel disease0302 clinical medicineMaintenance therapyCrohn DiseaseLong term therapyProspective Studiesskin and connective tissue diseasesProspective cohort studyMultivariate AnalysiCrohn's diseaseRemission InductionGastroenterologyMiddle AgedCrohn's diseaseAnti-Inflammatory AgentTreatment OutcomeItalyCohort030211 gastroenterology & hepatologyFemaleSteroidsHumanmedicine.drugmusculoskeletal diseasesAdultmedicine.medical_specialtySteroid dependencyMaintenance Chemotherapy03 medical and health sciencesInternal medicinemedicineAdalimumabHumansAdverse effectSteroidHepatologybusiness.industryAdalimumabmedicine.diseaseSurgeryProspective Studie030104 developmental biologyMultivariate AnalysisbusinessDigestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver
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Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

2017

GNE myopathy (GNEM), also known as hereditary inclusion body myopathy (HIBM), is a late- onset, progressive myopathy caused by mutations in the GNE gene encoding the enzyme responsible for the first regulated step in the biosynthesis of sialic acid (SA). The disease is characterized by distal muscle weakness in both the lower and upper extremities, with the quadriceps muscle relatively spared until the late stages of disease. To explore the role of SA synthesis in the disease, we conducted a comprehensive and systematic analysis of both free and total SA levels in a large cohort of GNEM patients and a mouse model. A sensitive LC/MS/MS assay was developed to quantify SA in serum and muscle h…

0301 basic medicineMaleBiopsylcsh:MedicineMuscle ProteinsBiochemistryPathogenesischemistry.chemical_compoundMice0302 clinical medicineTandem Mass SpectrometryMedicine and Health Scienceslcsh:ScienceMusculoskeletal SystemMultidisciplinarymedicine.diagnostic_testOrganic CompoundsMusclesGastrocnemius MusclesAnimal ModelsMuscle AnalysisMiddle AgedChemistrymedicine.anatomical_structureBioassays and Physiological AnalysisBiochemistryExperimental Organism SystemsPhysical SciencesFemalemedicine.symptomAnatomyResearch ArticleMuscle tissueAdultmedicine.medical_specialtyAdolescentMuscle TissueMouse ModelsSurgical and Invasive Medical ProceduresCreatineResearch and Analysis Methods03 medical and health sciencesYoung AdultModel OrganismsInternal medicineBiopsymedicineAnimalsHumansMyopathyMuscle SkeletalAgedHereditary inclusion body myopathybusiness.industrylcsh:ROrganic ChemistryChemical CompoundsBiology and Life SciencesProteinsmedicine.diseaseCreatineN-Acetylneuraminic AcidSialic acidDistal MyopathiesDisease Models Animal030104 developmental biologyEndocrinologyBiological TissuechemistrySkeletal Muscleslcsh:QbusinessN-Acetylneuraminic acid030217 neurology & neurosurgeryBiomarkersChromatography LiquidPLoS ONE
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Muscle and serum metabolomes are dysregulated in colon-26 tumor-bearing mice despite amelioration of cachexia with activin receptor type 2B ligand bl…

2019

Cancer-associated cachexia reduces survival, which has been attenuated by blocking the activin receptor type 2B (ACVR2B) ligands in mice. The purpose of this study was to unravel the underlying physiology and novel cachexia biomarkers by use of the colon-26 (C26) carcinoma model of cancer cachexia. Male BALB/c mice were subcutaneously inoculated with C26 cancer cells or vehicle control. Tumor-bearing mice were treated with vehicle (C26+PBS) or soluble ACVR2B either before (C26+sACVR/b) or before and after (C26+sACVR/c) tumor formation. Skeletal muscle and serum metabolomics analysis was conducted by gas chromatography-mass spectrometry. Cancer altered various biologically functional groups …

0301 basic medicineMaleCachexiaPhysiologyEndocrinology Diabetes and MetabolismActivin Receptors Type IIlihaksetMyostatinMice0302 clinical medicineAmino Acidsta315Activin Receptor Type-2BbiologyOrganophosphatesRecombinant Proteins3. Good healthmedicine.anatomical_structureribosome030220 oncology & carcinogenesismyostatinColonic NeoplasmsMetabolomesyöpätauditC26Metabolic Networks and Pathwaysmedicine.medical_specialtyPhenylalanineCachexia03 medical and health sciencesribosomitPhysiology (medical)Internal medicineCell Line TumormedicineAnimalsskeletal muscleMuscle SkeletalPI3K/AKT/mTOR pathwaybusiness.industrySkeletal muscleCancermedicine.diseaseta3122BlockadeImmunoglobulin Fc Fragments030104 developmental biologyEndocrinologyProtein Biosynthesisbiology.proteinaineenvaihduntatuotteetPyrimidine NucleotidesproteiinitbusinesslihassurkastumasairaudetACVR2BAmerican journal of physiology. Endocrinology and metabolism
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Moderate exercise in mice improves cancer plus chemotherapy-induced muscle wasting and mitochondrial alterations

2019

Cancer cachexia is a multifactorial syndrome characterized by anorexia, body wasting, and muscle and adipose tissue loss, impairing patient's tolerance to anticancer treatments and survival. The aim of the present study was to compare the effects induced in mice by tumor growth alone (C26) or in combination with chemotherapy [C26 oxaliplatin and 5-fluorouracil (oxfu)] and to evaluate the potential of moderate exercise. Oxfu administration to C26 mice exacerbated muscle wasting and triggered autophagy or mitophagy, decreased protein synthesis, and induced mitochondrial alterations. Exercise in C26 oxfu mice counteracted the loss of muscle mass and strength, partially rescuing autophagy and m…

0301 basic medicineMaleCachexiamedicine.medical_treatmentPGC-1αMitochondrionliikuntaBiochemistryMice0302 clinical medicineNeoplasmsMitophagyautophagy; cancer cachexia; mitochondria; PGC-1α; survival; Biotechnology; Biochemistry; Molecular Biology; Geneticsta315WastingMice Inbred BALB C3. Good healthmitochondriaMuscular AtrophyFemalemedicine.symptomBiotechnologycancer cachexiamedicine.medical_specialtyautophagyAntineoplastic AgentsAnorexiasurvivalCachexia03 medical and health sciencesInternal medicinePhysical Conditioning AnimalGeneticsmedicineAnimalsMuscle SkeletalMolecular BiologyChemotherapysyöpähoidotbusiness.industryAutophagyCancermedicine.diseaseta3122030104 developmental biologyEndocrinologyQuality of Lifekoe-eläinmallitbusinessEnergy Metabolismlihassurkastumasairaudet030217 neurology & neurosurgeryFASEB Journal
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Cannabinoid receptor expression in non-small cell lung cancer. Effectiveness of tetrahydrocannabinol and cannabidiol inhibiting cell proliferation an…

2020

Background/Objective Patients with non-small cell lung cancer (NSCLC) develop resistance to antitumor agents by mechanisms that involve the epithelial-to-mesenchymal transition (EMT). This necessitates the development of new complementary drugs, e.g., cannabinoid receptors (CB1 and CB2) agonists including tetrahydrocannabinol (THC) and cannabidiol (CBD). The combined use of THC and CBD confers greater benefits, as CBD enhances the effects of THC and reduces its psychotropic activity. We assessed the relationship between the expression levels of CB1 and CB2 to the clinical features of a cohort of patients with NSCLC, and the effect of THC and CBD (individually and in combination) on prolifer…

0301 basic medicineMaleCannabinoid receptorLung NeoplasmsPulmonologymedicine.medical_treatmentGene ExpressionBiochemistryLung and Intrathoracic TumorsReceptor Cannabinoid CB20302 clinical medicineContractile ProteinsReceptor Cannabinoid CB1Epidermal growth factorCarcinoma Non-Small-Cell LungMedicine and Health SciencesCannabidiolDronabinolAged 80 and overMultidisciplinaryChemistryQRDrugsMiddle AgedCancer Cell MigrationCell MotilityOncologyCell Processes030220 oncology & carcinogenesisMedicinelipids (amino acids peptides and proteins)Femalemedicine.drugResearch ArticleAdultEpithelial-Mesenchymal TransitionScienceChronic Obstructive Pulmonary DiseaseCell Migration03 medical and health sciencesCell Line Tumormental disordersmedicineGeneticsHumansEpithelial–mesenchymal transitionTetrahydrocannabinolCell ProliferationAgedA549 cellPharmacologyCannabinoid Receptor AgonistsPsychotropic DrugsCell growthCannabinoidsorganic chemicalsCancers and NeoplasmsBiology and Life SciencesProteinsCell Biologydigestive system diseasesActinsrespiratory tract diseasesNon-Small Cell Lung CancerCytoskeletal Proteins030104 developmental biologyA549 CellsCancer researchCannabinoidCannabidiolDevelopmental BiologyPLoS ONE
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Cerebello-cortical network fingerprints differ between essential, Parkinson's and mimicked tremors.

2017

Cerebello-thalamo-cortical loops play a major role in the emergence of pathological tremors and voluntary rhythmic movements. It is unclear whether these loops differ anatomically or functionally in different types of tremor. We compared age- and sex-matched groups of patients with Parkinson's disease or essential tremor and healthy controls (n = 34 per group). High-density 256-channel EEG and multi-channel EMG from extensor and flexor muscles of both wrists were recorded simultaneously while extending the hands against gravity with the forearms supported. Tremor was thereby recorded from patients, and voluntarily mimicked tremor was recorded from healthy controls. Tomographic maps of EEG-E…

0301 basic medicineMaleCerebellumEfferentEssential TremorSensory systemElectroencephalographyPremotor cortex03 medical and health sciences0302 clinical medicineCerebellumNeural PathwaysmedicineImage Processing Computer-AssistedHumansMuscle SkeletalAgedEssential tremorResting state fMRImedicine.diagnostic_testbusiness.industryElectromyographyMotor CortexElectroencephalographyParkinson DiseaseMiddle Agedmedicine.diseaseMagnetic Resonance Imagingnervous system diseases030104 developmental biologymedicine.anatomical_structureNonlinear DynamicsCerebral cortexCase-Control StudiesFemaleNeurology (clinical)businessNeuroscience030217 neurology & neurosurgeryBrain : a journal of neurology
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Reduced interneuronal dendritic arborization in CA1 but not in CA3 region of mice subjected to chronic mild stress

2016

Abstract Introduction Chronic stress induces dendritic atrophy and decreases spine density in excitatory hippocampal neurons, although there is also ample evidence indicating that the GABAergic system is altered in the hippocampus after this aversive experience. Chronic stress causes dendritic remodeling both in excitatory neurons and interneurons in the medial prefrontal cortex and the amygdala. Methods In order to know whether it also has an impact on the structure and neurotransmission of hippocampal interneurons, we have analyzed the dendritic arborization, spine density, and the expression of markers of inhibitory synapses and plasticity in the hippocampus of mice submitted to 21 days …

0301 basic medicineMaleDendritic spineDendritic SpinesHippocampusPSA‐NCAMCell CountNeural Cell Adhesion Molecule L1Hippocampal formationBiologyNeurotransmissionAmygdalaHippocampus03 medical and health sciencesBehavioral NeuroscienceMice0302 clinical medicineInterneuronsNeuroplasticitymedicineAnimalsChronic stressCA1 Region HippocampalOriginal ResearchInhibitionNeuronal PlasticityGlutamate Decarboxylasemusculoskeletal neural and ocular physiologyfungiCA3 Region Hippocampalstructural plasticity030104 developmental biologymedicine.anatomical_structurenervous systemExcitatory postsynaptic potentialGAD67Sialic AcidsNeuroscience030217 neurology & neurosurgeryStress PsychologicalBrain and Behavior
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Noninvasive optical diagnostics of enhanced green fluorescent protein expression in skeletal muscle for comparison of electroporation and sonoporatio…

2015

We highlight the options available for noninvasive optical diagnostics of reporter gene expression in mouse tibialis cranialis muscle. An in vivo multispectral imaging technique combined with fluorescence spectroscopy point measurements has been used for the transcutaneous detection of enhanced green fluorescent protein (EGFP) expression, providing information on location and duration of EGFP expression and allowing quantification of EGFP expression levels. For EGFP coding plasmid (pEGFP-Nuc Vector, 10  μg/50  ml 10  μg/50  ml ) transfection, we used electroporation or ultrasound enhanced microbubble cavitation [sonoporation (SP)]. The transcutaneous EGFP fluorescence in live mice was monit…

0301 basic medicineMaleGreen Fluorescent ProteinsBiomedical EngineeringNanotechnologyTransfectionFluorescence spectroscopyGreen fluorescent proteinBiomaterials03 medical and health sciencesMiceSonicationAnimalsMuscle SkeletalReporter geneChemistryHistocytochemistryElectroporationfungiOptical ImagingTransfectionEquipment DesignFluorescenceAtomic and Molecular Physics and OpticsElectronic Optical and Magnetic MaterialsMice Inbred C57BL030104 developmental biologyElectroporationBiophysicsFemaleSonoporationPreclinical imagingJournal of biomedical optics
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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism

2019

Contains fulltext : 202646.pdf (Publisher’s version ) (Open Access) By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone …

0301 basic medicineMaleJumonji Domain-Containing Histone DemethylasesDevelopmental DisabilitiesWEAVER SYNDROMEPROTEINHaploinsufficiencyCraniofacial AbnormalitiesHistones0302 clinical medicineIntellectual disabilityTumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]Missense mutationDEMETHYLASE KDM3BExomeChildGenetics (clinical)Exome sequencingGeneticsRUBINSTEIN-TAYBI SYNDROMEMetabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]Phenotype030220 oncology & carcinogenesisFemalemedicine.symptomHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]Joint hypermobilityGENETICSJMJD1CMutation MissenseDwarfismBiologyShort statureKdm3b ; Cancer Predisposition ; Developmental Delay ; Facial Recognition ; Intellectual Disability ; Leukemia ; Lymphoma ; Short Stature03 medical and health sciencesReportIntellectual DisabilitymedicineHumansMYELOID-LEUKEMIAGenetic Association StudiesGerm-Line MutationWeaver syndromeNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]Rubinstein–Taybi syndromeMUTATIONSDELETIONGenetic Variationmedicine.diseaseBody HeightMusculoskeletal AbnormalitiesINDIVIDUALS030104 developmental biologyFaceNanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]American Journal of Human Genetics
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