Search results for "Ability"

showing 10 items of 18559 documents

7q31.32 partial duplication: First report of a child with dysmorphism, autistic spectrum disorder, moderate intellectual disability and, epilepsy. Li…

2019

Abstract Introduction Duplication of long arm of chromosome 7(q) is uncommon. It may occur as “pure”, isolated anomaly or in association with other mutations involving the same or other chromosomes. “Pure” chromosome 7q duplication has recently been classified by segment involved: the interstitial, proximal, or distal segment of the arm. Attempts to correlate genotype with phenotype in each group has yielded questionable results even though intellective disability and minor dysmorphic features of variable types are typically seen. Material and Methods In a young boy showing minor facial dysmorphism, language delay, autistic spectrum disorder, epileptic seizures, behavioral disturbances and …

0301 basic medicineProbandPediatricsmedicine.medical_specialtyAutism Spectrum DisorderLanguage delayDevelopmental DisabilitiesIrritabilityChromosomes03 medical and health sciencesEpilepsy0302 clinical medicineIntellectual DisabilityGene duplicationIntellectual disabilityHumansMedicineGenetic Association StudiesChromosome 7 (human)Epilepsybusiness.industrymedicine.disease7q31.32 duplicationDysmorphism030104 developmental biologyAutistic spectrum disorderNeurologyAutism spectrum disorderPair 7Neurology (clinical)medicine.symptombusinessChromosomes Human Pair 7030217 neurology & neurosurgeryHumanEpilepsy Research
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Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.

2017

// Antonino Tuttolomondo 1 , Irene Simonetta 1 , Giovanni Duro 2 , Rosaria Pecoraro 1 , Salvatore Miceli 1 , Paolo Colomba 2 , Carmela Zizzo 2 , Antonia Nucera 3, 4 , Mario Daidone 1 , Tiziana Di Chiara 1 , Rosario Scaglione 1 , Vittoriano Della Corte 1 , Francesca Corpora 1 , Danai Vogiatzis 1 and Antonio Pinto 1 1 U.O.C di Medicina Interna con Stroke Care, Dipartimento Biomedico di Medicina Interna e Specialistica (Di.Bi.M.I.S), University of Palermo, Palermo, Italy 2 CNR-IBIM: Institute of Biomedicine and Molecular Immunology “A. Monroy” Palermo, Palermo, Italy 3 Stroke Unit, Neurology, Saint Andrea Hospital, La Spezia, Italy 4 Department of Clinical Neurological Sciences, Western Univer…

0301 basic medicineProbandmedicine.medical_specialtyPediatricsNeurologyfamilySettore MED/09 - Medicina InternaDiseaseGene mutationAnderson-Fabry disease (AFD)Pathogenesis03 medical and health sciences0302 clinical medicineAnderson-Fabry disease (AFD); family; variabilitymedicineGeneticsbusiness.industryvariabilityOrgan dysfunctionmedicine.diseaseFabry diseaselanguage.human_language030104 developmental biologyOncologylanguagemedicine.symptombusinessSicilian030217 neurology & neurosurgeryResearch Paper
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Attenuation of 7-ketocholesterol- and 7β-hydroxycholesterol-induced oxiapoptophagy by nutrients, synthetic molecules and oils: Potential for the prev…

2021

Age-related diseases for which there are no effective treatments include cardiovascular diseases; neurodegenerative diseases such as Alzheimer's disease; eye disorders such as cataract and age-related macular degeneration; and, more recently, Severe Acute Respiratory Syndrome (SARS-CoV-2). These diseases are associated with plasma and/or tissue increases in cholesterol derivatives mainly formed by auto-oxidation: 7-ketocholesterol, also known as 7-oxo-cholesterol, and 7β-hydroxycholesterol. The formation of these oxysterols can be considered as a consequence of mitochondrial and peroxisomal dysfunction, leading to increased in oxidative stress, which is accentuated with age. 7-ketocholester…

0301 basic medicineProgrammed cell deathAgingOxysterolMitochondrionPharmacologymedicine.disease_causeBiochemistry03 medical and health sciences0302 clinical medicineLysosomemedicineHumansMolecular BiologyKetocholesterolsChemistrySARS-CoV-2COVID-19NutrientsPeroxisomeHydroxycholesterols030104 developmental biologymedicine.anatomical_structureNeurologyMitochondrial permeability transition poreEye disorderlipids (amino acids peptides and proteins)Oils030217 neurology & neurosurgeryOxidative stressBiotechnologyAgeing research reviews
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Transcriptomic study of the toxic mechanism triggered by beauvericin in Jurkat cells

2018

Beauvericin (BEA), an ionophoric cyclic hexadepsipeptide mycotoxin, is able to increase oxidative stress by altering membrane ion permeability and uncoupling oxidative phosphorylation. A toxicogenomic study was performed to investigate gene expression changes triggered by BEA exposure (1.5, 3 and 5 mu M; 24 h) in Jurkat cells through RNA-sequencing and differential gene expression analysis. Perturbed gene expression was observed in a concentration dependent manner, with 43 differentially expressed genes (DEGs) overlapped in the three studied concentrations. Gene ontology (GO) analysis showed several biological processes related to electron transport chain, oxidative phosphorylation, and cel…

0301 basic medicineProgrammed cell deathCYTOCHROME-C RELEASEBCL-2 FAMILYCell Membrane PermeabilityRespiratory chainCell Culture TechniquesCASPASE-3 ACTIVATIONApoptosisOxidative phosphorylationCHO-K1 CELLSToxicologyJurkat cellsOxidative PhosphorylationElectron Transport03 medical and health sciencesJurkat CellsFUSARIUM MYCOTOXINSImmunotoxicologyDepsipeptidesHumansREAL-TIME PCROXIDATIVE STRESSTranscriptomicsCaspaseINDUCED APOPTOSISLEUKEMIA-CELLS030102 biochemistry & molecular biologybiologyDose-Response Relationship DrugChemistryJurkatGene Expression ProfilingBcl-2 familyDEATHGeneral MedicineBeauvericinToxicogenomicsCell biologyGene expression profiling030104 developmental biologyMitochondrial respiratory chainGene Ontologybiology.proteinRNA-seqTranscriptomeToxicology Letters
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Mechanisms of beauvericin toxicity and antioxidant cellular defense

2015

Beauvericin (BEA) is a secondary metabolite produced by many species of fungus Fusarium. This study determines the injury (cell viability, cell proliferation, mitochondrial membrane potential, cell death and DNA damage) and the intracellular defense mechanisms (catalase and superoxide dismutase) in Chinese Hamster ovary (CHO-K1) cells after BEA exposure. The results obtained in this study demonstrated that BEA induces cytotoxicity in a dose- and time-dependent manner in CHO-K1 cells. Moreover, disruption in mitochondrial enzymatic activity and cell proliferation has been observed after BEA exposure, which can lead or be consequence of cell death. BEA inhibits cell proliferation by arresting…

0301 basic medicineProgrammed cell deathCell SurvivalDNA damageApoptosisCHO CellsToxicologyAntioxidantsSuperoxide dismutase03 medical and health sciencesCricetulus0404 agricultural biotechnologyDepsipeptidesAnimalsViability assayCell ProliferationMembrane Potential MitochondrialbiologySuperoxide DismutaseCell growthChinese hamster ovary cell04 agricultural and veterinary sciencesGeneral MedicineCatalase040401 food scienceCell biology030104 developmental biologyBiochemistryApoptosisbiology.proteinIntracellularDNA DamageToxicology Letters
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The Phytochemical Indicaxanthin Synergistically Enhances Cisplatin-Induced Apoptosis in HeLa Cells via Oxidative Stress-Dependent p53/p21waf1 Axis

2020

Combining phytochemicals with chemotherapics is an emerging strategy to treat cancer to overcome drug toxicity and resistance with natural compounds. We assessed the effects of indicaxanthin (Ind), a pigment obtained from Opuntia ficus-indica (L. Mill) fruit, combined with cisplatin (CDDP) against cervical cancer cells (HeLa). Measured cell viability via Trypan blue assay

0301 basic medicineProgrammed cell deathCelllcsh:QR1-502indicaxanthincisplatinCell morphologyBiochemistrylcsh:MicrobiologyHeLa03 medical and health sciences0302 clinical medicinemedicineoxidative stresscancerViability assayMolecular BiologybiologyChemistryfood and beveragesCell cyclebiology.organism_classificationphytochemicalsMolecular biology030104 developmental biologymedicine.anatomical_structureApoptosis030220 oncology & carcinogenesis<i>Opuntia ficus indica</i> (L. Mill)Cancer cellOpuntia ficus indica (L. Mill)combo-therapyBiomolecules
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Docosahexaenoic Acid Attenuates Mitochondrial Alterations and Oxidative Stress Leading to Cell Death Induced by Very Long-Chain Fatty Acids in a Mous…

2020

In the case of neurodegenerative pathologies, the therapeutic arsenal available is often directed towards the consequences of the disease. The purpose of this study is, therefore, to evaluate the ability of docosahexaenoic acid (DHA), a molecule present in certain foods and considered to have health benefits, to inhibit the cytotoxic effects of very long-chain fatty acids (C24:0, C26:0), which can contribute to the development of some neurodegenerative diseases. The effect of DHA (50 &micro

0301 basic medicineProgrammed cell deathDocosahexaenoic AcidsCell SurvivalVery long chain fatty acidoligodendrocytesvery long-chain fatty acidmedicine.disease_causeCatalysisArticleCell Linelcsh:ChemistryInorganic Chemistry03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicinemedicineAnimalsViability assayPropidium iodidePhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologySpectroscopyMembrane Potential MitochondrialOrganic ChemistryAutophagyFatty Acidsfood and beveragesGeneral Medicinelipotoxicitydocosahexaenoic acidComputer Science ApplicationsCell biologyMitochondriaOligodendrogliaOxidative Stress030104 developmental biologylcsh:Biology (General)lcsh:QD1-999chemistryLipotoxicityDocosahexaenoic acidModels Animallipids (amino acids peptides and proteins)Reactive Oxygen Species030217 neurology & neurosurgeryOxidative stressInternational Journal of Molecular Sciences
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Biological activity of PtIV prodrugs triggered by riboflavin-mediated bioorthogonal photocatalysis

2018

AbstractWe have recently demonstrated that riboflavin (Rf) functions as unconventional bioorthogonal photocatalyst for the activation of PtIV prodrugs. In this study, we show how the combination of light and Rf with two PtIV prodrugs is a feasible strategy for light-mediated pancreatic cancer cell death induction. In Capan-1 cells, which have high tolerance against photodynamic therapy, Rf-mediated activation of the cisplatin and carboplatin prodrugs cis,cis,trans-[Pt(NH3)2(Cl)2(O2CCH2CH2CO2H)2] (1) and cis,cis,trans-[Pt(NH3)2(CBDCA)(O2CCH2CH2CO2H)2] (2, where CBDCA = cyclobutane dicarboxylate) resulted in pronounced reduction of the cell viability, including under hypoxia conditions. Such …

0301 basic medicineProgrammed cell deathLightOrganoplatinum CompoundsDNA damageCell SurvivalRiboflavinlcsh:MedicinePlatinum prodrugs DNA bioorthogonal photocatalysis riboflavinAntineoplastic AgentsArticle03 medical and health scienceschemistry.chemical_compound0302 clinical medicineCell Line TumormedicineHumansProdrugsViability assaylcsh:ScienceCisplatinMultidisciplinaryChemistrylcsh:RProdrugPhotochemical ProcessesChemical biologyCarboplatinCoordination chemistry030104 developmental biologySettore CHIM/03 - Chimica Generale E InorganicaCell culture030220 oncology & carcinogenesisBiophysicslcsh:QBioorthogonal chemistrymedicine.drug
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The dissociation of the Hsp60/pro-Caspase-3 complex by bis(pyridyl)oxadiazole copper complex (CubipyOXA) leads to cell death in NCI-H292 cancer cells

2017

Abstract Cell survival and proliferation are central to carcinogenesis, involving various mechanisms among which those that impede apoptosis are important. In this, the role of the molecular chaperone Hsp60 is unclear since it has been reported that it can be both, pro- or anti-apoptotic. A solution to this riddle is crucial to the development of anti-cancer therapies targeting Hsp60. We addressed this question using a tumor cell line, NCI-H292, and [Cu(3,5-bis(2′-pyridyl)-1,2,4-oxadiazole) 2 (H 2 O) 2 ](ClO 4 ) 2 , CubipyOXA , a copper-containing compound with cytotoxic properties. We treated cells with various doses of the compound and measured cell viability; apoptosis indicators; and le…

0301 basic medicineProgrammed cell deathanimal structuresApoptosischemical and pharmacologic phenomenaCaspase 3medicine.disease_causecomplex mixturesBiochemistryMitochondrial ProteinsHsp60/pC3 complexInorganic Chemistry03 medical and health sciences0302 clinical medicineCoordination ComplexesCell Line TumorNeoplasmsCubipyOXAmedicineHumansCytotoxic T cellViability assayCancerOxadiazolesCaspase 3ChemistryfungiApoptosiChaperonin 60Hsp60Neoplasm ProteinsCell biology030104 developmental biologyApoptosisPro-caspase-3 (pC3)Multiprotein Complexes030220 oncology & carcinogenesisCancer cellHSP60Apoptosis; Cancer; CubipyOXA; Hsp60; Hsp60/pC3 complex; Pro-caspase-3 (pC3); Biochemistry; Inorganic ChemistryCarcinogenesisCopper
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Essential Oils, Pituranthos chloranthus and Teucrium ramosissimum, Chemosensitize Resistant Human Uterine Sarcoma MES-SA/Dx5 Cells to Doxorubicin by …

2021

The multidrug resistance phenotype is a global phenomenon and causes chemotherapy failure in various cancers, such as in uterine sarcomas that have a high mortality rate. To overcome this phenotype, there is growing research interest in developing new treatment strategies. In this study, we highlight the potential of two essential oils from the Apiaceae family, Pituranthos chloranthus (PC) and Teucrium ramosissimum Desf. (TR), to act as chemopreventive and chemosensitizing agents against two uterine sarcoma cell lines, MES-SA and P-gp-overexpressing MES-SA/Dx5 cells. We found that PC and TR were able to inhibit the cell viability of sensitive MES-SA and resistant MES-SA/Dx5 cells by a sligh…

0301 basic medicineProgrammed cell deathuterine sarcomaP-glycoproteindoxorubicin03 medical and health sciences0302 clinical medicinemedicineDoxorubicinTX341-641Viability assayessential oilsP-glycoproteinNutrition and DieteticsbiologyChemistryNutrition. Foods and food supplyCell cyclechemosensitization030104 developmental biologyApoptosisCell culture030220 oncology & carcinogenesisCancer researchbiology.proteinIntracellularFood Sciencemedicine.drugNutrients
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