Search results for "bioinformatics"

showing 10 items of 1632 documents

International Society for Extracellular Vesicles: first annual meeting, April 17-21, 2012: ISEV-2012

2012

Extracellular micro- and nano-scale membrane vesicles produced by different cells are recognized as an essential entity of physiological fluids in a variety of organisms and function as mediators of intercellular communication employed for the regulation of multiple systemic and local processes. In the last decade, an exponential amount of experimental work was dedicated to exploring the biogenesis and secretion mechanisms, physiological and pathological functions and potential applications of the extracellular vesicles (EVs). Noteworthy is the large heterogeneity of in vitro and in vivo models applied, technical approaches developed in these studies and the diversity of designations assign…

microparticlesInternational Society for Extracellular VesiclesHistologyLibrary scienceexosomesCell Biologyextracellular membrane vesicles; exosomes; microvesicles; ISEV;Meeting ReportBiologyBioinformaticsExtracellular vesiclesISEV-2012Broad spectrumResearch centreextracelluar membrane vesiclesExperimental workMembrane vesiclemicrovesiclesJournal of Extracellular Vesicles
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Does the evidence matter in medicine? The retinoblastoma paradigm.

2007

Retinoblastoma (Rb) is the most common intraocular malignant tumour in childhood, with an incidence of 1 in 15,000 live births. Complete information on this rare tumour can be easily accessed through the internet, although many aspect concerning the aetiology and pathogenesis of the disease, are still controversial. The "two hit" theory, formulated in 1971 to explain the variegated clinical expression of the disease, is based on the idea that single gene mutation may determine the development of cancer. However, this view does not take into account the most recent evidences showing the role of aneuploidy and chromosome instability in cancer. Also, a number of other genes and epigenetic mech…

microsatelliteCancer Researchtwo hit theoryAneuploidyDiseaseBiologymedicine.disease_causeBioinformaticsEpigenesis GeneticAge DistributionChromosome instabilityChromosomal InstabilitymedicineHumansGenetic Predisposition to DiseaseGeneticsEvidence-Based MedicineRetinoblastomaInfant NewbornRetinoblastomaCancerInfantmedicine.diseaseAneuploidyinstabilitySettore BIO/18 - GeneticaOncologyHereditary RetinoblastomaMutationEtiologyMicrosatellite Instabilitychromosome instabilityCarcinogenesisInternational journal of cancer
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Light on the molecular and cellular mechanisms of bicuspid aortic valve to unveil phenotypic heterogeneity

2019

Research on bicuspid aortic valve disease (BAV) and related complications has grown in an exponential manner in the last decades. However, the current knowledge of the mechanisms underlying the development of this disease is still limited, since all clinical and surgical studies on BAV mainly focused their objects on its major vascular complications, such as ascending aortic aneurysms and dissection. It is now clear that a better understanding of the pivotal molecular and cellular pathophysiological aspects of bicuspid valve aortopathy, including natural history, phenotypic expression, histology, cellular mechanisms and pathways, is critical for improving its clinical management. This chang…

molecular and cellular mechanismbicuspid aortic valvethoracicphenotypeprecision medicineaortic aneurysm thoracic; aortic valve; biomarkers; heart valve diseases; humans; precision medicine; genetic heterogeneity; phenotypeBiologyBioinformaticsheart valve diseasesgenetic heterogeneityAortic aneurysmBicuspid aortic valveBicuspid Aortic Valve DiseasemedicineSettore MED/05 - Patologia ClinicahumansMolecular BiologyAortic Aneurysm ThoracicGenetic heterogeneitybiomarkersmedicine.diseasePrecision medicineaortic valvePhenotypeCardiology and Cardiovascular Medicineaortic aneurysmJournal of Molecular and Cellular Cardiology
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IAP proteins as targets for drug development in oncology.

2013

The inhibitors of apoptosis (IAPs) constitute a family of proteins involved in the regulation of various cellular processes, including cell death, immune and inflammatory responses, cell proliferation, cell differentiation, and cell motility. There is accumulating evidence supporting IAP-targeting in tumors: IAPs regulate various cellular processes that contribute to tumor development, such as cell death, cell proliferation, and cell migration; their expression is increased in a number of human tumor samples, and IAP overexpression has been correlated with tumor growth, and poor prognosis or low response to treatment; and IAP expression can be rapidly induced in response to chemotherapy or …

musculoskeletal diseasesProgrammed cell deathCell growthbusiness.industryCellular differentiationapoptosisCell migrationReviewBioinformaticsbody regionsInternal ribosome entry siteImmune systemOncologyDrug developmentApoptosisCancer researchMedicinePharmacology (medical)Smac mimeticsbiological phenomena cell phenomena and immunitybusinessantitumor therapyOncoTargets and therapy
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Development of the first marmoset-specific DNA microarray (EUMAMA): a new genetic tool for large-scale expression profiling in a non-human primate

2007

Abstract Background The common marmoset monkey (Callithrix jacchus), a small non-endangered New World primate native to eastern Brazil, is becoming increasingly used as a non-human primate model in biomedical research, drug development and safety assessment. In contrast to the growing interest for the marmoset as an animal model, the molecular tools for genetic analysis are extremely limited. Results Here we report the development of the first marmoset-specific oligonucleotide microarray (EUMAMA) containing probe sets targeting 1541 different marmoset transcripts expressed in hippocampus. These 1541 transcripts represent a wide variety of different functional gene classes. Hybridisation of …

musculoskeletal diseasesendocrine systemanimal structuresMicroarraylcsh:QH426-470Energy and redox metabolism [NCMLS 4]Bioinformaticslcsh:BiotechnologyMolecular Sequence DataComputational biologyBiologyHippocampus03 medical and health sciences0302 clinical medicinebiology.animallcsh:TP248.13-248.65Gene expressionGeneticsAnimalsBiotinylationTissue DistributionOligonucleotide Array Sequence Analysis030304 developmental biologyExpressed Sequence TagsGenetics0303 health sciencesExpressed sequence tagGenomeGene Expression ProfilingNucleic Acid HybridizationMarmosetCallithrixbiology.organism_classificationCallithrixGene expression profilinglcsh:GeneticsMitochondrial medicine [IGMD 8]Gene Expression RegulationGenetic TechniquesGenBankRNADNA microarrayCellular energy metabolism [UMCN 5.3]human activities030217 neurology & neurosurgeryResearch ArticleBiotechnology
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Scientific evidence on the usefulness of intraarticular hyaluronic acid injection in the management of temporomandibular dysfunction

2010

Abstract Hyaluronic acid (HA) is found in high concentrations in cartilage and synovial fluid, and is an important component of the extracellular matrixes ? exerting joint lubrication and buffering actions thanks to its viscoelastic properties. The present study examines the scientific evidence found in the current literature on the usefulness of the intraarticular injection of HA in patients with temporomandibular dysfunction. A literature search was made up until May 2008 in the following databases: PubMed / MEDLINE. Of the articles found in the literature, the present review included 18 relevant studies on the application of HA in the temporomandibular joint (TMJ). The quality, level of …

musculoskeletal diseasesmedicine.medical_specialtyHyaluronic acidMEDLINETemporomandibular joint abnormalities.BioinformaticsScientific evidenceInjections Intra-Articularchemistry.chemical_compoundHyaluronic acidTemporomandibular joint abnormalitiesmedicineSynovial fluidHumansMalformacions de l'articulació temporomandibularHyaluronic AcidGeneral Dentistrybusiness.industryCartilageTherapeutic effectEvidence-based medicineTemporomandibular Joint Dysfunction Syndrome:CIENCIAS MÉDICAS [UNESCO]Àcid hialurònicSurgeryTemporomandibular jointmedicine.anatomical_structureOtorhinolaryngologychemistryUNESCO::CIENCIAS MÉDICASSurgerybusiness
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Serum metabolic profiles in overweight and obese women with and without metabolic syndrome.

2014

Objective: To identify serum biomarkers through metabolomics approach that distinguishes physically inactive overweight/obese women with metabolic syndrome from those who are metabolically healthy, independent of body weight and fat mass. Methods: We applied nuclear magnetic resonance spectroscopy-based profiling of fasting serum samples to examine the metabolic differences between 78 previously physically inactive, body weight and fat mass matched overweight/obese premenopausal women with and without MetS. MetS was defined as the presence of at least three of the following five criteria: waist circumference ≥ 88 cm, serum triacylglycerol ≥ 1.7 mmol/L, and high density lipoprotein cholester…

naisetbusiness.industryEndocrinology Diabetes and MetabolismResearchMEDLINEOverweightmedicine.diseaseBioinformaticsBody weightmetabolomicsObesityMetabolic syndromeFat massMetabolomicsDiabetes mellitusmedicineInternal MedicinelihavuusMetabolomicsWomenObesityMetabolic syndromemedicine.symptombusinessmetabolinen oireyhtymäDiabetologymetabolic syndrome
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Targeting the tumor mutanome for personalized vaccination therapy

2012

Next generation sequencing enables identification of immunogenic tumor mutations targetable by individualized vaccines. In the B16F10 melanoma system as pre-clinical proof-of-concept model, we found a total of 563 non-synonymous expressed somatic mutations. Of the mutations we tested, one third were immunogenic. Immunization conferred in vivo tumor control, qualifying mutated epitopes as source for effective vaccines.

next generation sequencingSomatic cellbusiness.industryImmunologyBioinformaticscancer immunogenicityDNA sequencingEpitopeVaccinationOncologyImmunizationIn vivoImmunogenic tumornon-synonymous mutationsCancer researchindividualized therapyImmunology and AllergyMedicinetumor mutationsB16f10 melanomacancer vaccinationbusinessAuthor's ViewOncoImmunology
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Electroencephalography as a Non-Invasive Biomarker of Alzheimer’s Disease: A Forgotten Candidate to Substitute CSF Molecules?

2021

Biomarkers for disease diagnosis and prognosis are crucial in clinical practice. They should be objective and quantifiable and respond to specific therapeutic interventions. Optimal biomarkers should reflect the underlying process (pathological or not), be reproducible, widely available, and allow measurements repeatedly over time. Ideally, biomarkers should also be non-invasive and cost-effective. This review aims to focus on the usefulness and limitations of electroencephalography (EEG) in the search for Alzheimer’s disease (AD) biomarkers. The main aim of this article is to review the evolution of the most used biomarkers in AD and the need for new peripheral and, ideally, non-invasive b…

non-invasive biomarkerscerebral rhythmsQH301-705.5ReviewDiseaseElectroencephalographyBioinformaticsCatalysisInorganic ChemistryAlzheimer DiseaseAlzheimer’s disease diagnosismedicineAnimalsHumansEEGBiology (General)Physical and Theoretical ChemistryQD1-999Molecular BiologySpectroscopyCerebrospinal Fluidmedicine.diagnostic_testbusiness.industryOrganic ChemistryNon invasive biomarkerssynchronyElectroencephalographyGeneral MedicineComputer Science ApplicationsClinical PracticeChemistrycomplexitybusinessBiomarkersalpha waveInternational Journal of Molecular Sciences
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The Sick Adipose Tissue: New Insights Into Defective Signaling and Crosstalk With the Myocardium

2021

Adipose tissue (AT) biology is linked to cardiovascular health since obesity is associated with cardiovascular disease (CVD) and positively correlated with excessive visceral fat accumulation. AT signaling to myocardial cells through soluble factors known as adipokines, cardiokines, branched-chain amino acids and small molecules like microRNAs, undoubtedly influence myocardial cells and AT function via the endocrine-paracrine mechanisms of action. Unfortunately, abnormal total and visceral adiposity can alter this harmonious signaling network, resulting in tissue hypoxia and monocyte/macrophage adipose infiltration occurring alongside expanded intra-abdominal and epicardial fat depots seen …

obesityEndocrinology Diabetes and MetabolismAdipokineAdipose tissueAdipose tissueMyocardiocytesInflammationContext (language use)ReviewBioinformaticsDiseases of the endocrine glands. Clinical endocrinologyCoronary artery diseasechemistry.chemical_compoundEndocrinologyAdipocytemicrobiotamedicineHumansMyocytes CardiacMyocardial infarctionObesityInflammationbusiness.industryMyocardiumMicrobiotaRC648-665medicine.diseaseCor MalaltiesmyocardiocytesAdipose TissuechemistryObesitatmedicine.symptombusinessDysbiosisSignal Transduction
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