Search results for "Bioinformatics"

showing 10 items of 1632 documents

Mediterranean nutraceutical foods: Strategy to improve vascular ageing.

2015

Ageing is characterized by a decline in all systemic functions. A greater susceptibility to apoptosis and senescence may contribute to proliferative and functional impairment of endothelial progenitor cells. They play an important role in neo-angiogenesis and endothelial repair. Vascular ageing is associated with changes in the structure and functions of vessels' wall. There are many possible causes of this damage. For sure, inflammation and oxidative stress play a fundamental role in the pathogenesis of endothelial dysfunction, commonly attributed to a reduced availability of nitric oxide. Inflammageing, the chronic low-grade inflammation that characterizes elderly people, aggravates vascu…

0301 basic medicineSenescencePathologymedicine.medical_specialtyAgingInflammationDisease030204 cardiovascular system & hematologyBioinformaticsmedicine.disease_causeDiet MediterraneanEndothelial progenitor cellPathogenesis03 medical and health sciences0302 clinical medicineNutraceuticalmedicineHumansVascular DiseasesEndothelial dysfunctionEndothelial Progenitor CellsSettore MED/04 - Patologia Generalebusiness.industryVascular ageingmedicine.diseaseInflammageing030104 developmental biologyAgeingNutraceuticalEndothelium Vascularmedicine.symptombusinessOxidative stressDevelopmental BiologyMechanisms of ageing and development
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A Deep Learning Model for Epigenomic Studies

2016

Epigenetics is the study of heritable changes in gene expression that does not involve changes to the underlying DNA sequence, i.e. a change in phenotype not involved by a change in genotype. At least three main factor seems responsible for epigenetic change including DNA methylation, histone modification and non-coding RNA, each one sharing having the same property to affect the dynamic of the chromatin structure by acting on Nucleosomes posi- tion. A nucleosome is a DNA-histone complex, where around 150 base pairs of double-stranded DNA is wrapped. The role of nucleosomes is to pack the DNA into the nucleus of the Eukaryote cells, to form the Chromatin. Nucleosome positioning plays an imp…

0301 basic medicineSettore INF/01 - InformaticabiologyBase pairdeep learningGenomicsComputational biologyBioinformaticsChromatin03 medical and health sciences030104 developmental biologyHistoneclassificationDNA methylationbiology.proteinNucleosomeEpigeneticsnucleosome positioningEpigenomics2016 12th International Conference on Signal-Image Technology & Internet-Based Systems (SITIS)
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Discovering discriminative graph patterns from gene expression data

2016

We consider the problem of mining gene expression data in order to single out interesting features characterizing healthy/unhealthy samples of an input dataset. We present an approach based on a network model of the input gene expression data, where there is a labelled graph for each sample. To the best of our knowledge, this is the first attempt to build a different graph for each sample and, then, to have a database of graphs for representing a sample set. Our main goal is that of singling out interesting differences between healthy and unhealthy samples, through the extraction of "discriminative patterns" among graphs belonging to the two different sample sets. Differently from the other…

0301 basic medicineSettore INF/01 - Informaticabusiness.industryComputer science0206 medical engineeringpattern discovery subgraph extraction biological networksPattern recognition02 engineering and technologyGraph03 medical and health sciencesComputingMethodologies_PATTERNRECOGNITION030104 developmental biologyDiscriminative modelGraph patternsArtificial intelligencebusiness020602 bioinformaticsBiological networkNetwork modelProceedings of the 31st Annual ACM Symposium on Applied Computing
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Molecular profiling of pancreatic neuroendocrine tumors (pNETS) and the clinical potential

2018

Abstract: Introduction: Pancreatic neuroendocrine tumors (pNETs) represent a small part of pancreatic neoplasms, and the knowledge about their indolent clinical course remains a subject of investigation. They occur sporadically or as part of familial cancer syndromes and are classified by WHO in 3 categories. There is ongoing research to understand their molecular profiling and leading mutations.Areas covered: The aim of this review is to clarify the overall aspects of tumorigenesis, to expose the latest developments in understanding the course of the disease and the possible therapeutic implications of these. The review also discusses functional and non-functional pNETs and associated inhe…

0301 basic medicineSettore MED/06 - Oncologia Medicamedicine.medical_treatmentClinical Decision-MakingAntineoplastic AgentsDiseaseNeuroendocrine tumorsBioinformaticsTargeted therapy03 medical and health sciences0302 clinical medicinePredictive Value of TestsFunctional tumorBiomarkers TumormedicineHumansProfiling (information science)Molecular Targeted Therapyneurondocrine tumorPrecision MedicineTherapeutic strategymolecular pathwayHepatologybusiness.industryGene Expression ProfilingGastroenterologyClinical coursehereditary syndrometargeted therapymedicine.diseaseGene Expression Regulation NeoplasticPancreatic NeoplasmsNeuroendocrine Tumors030104 developmental biology030220 oncology & carcinogenesispancreatic tumorFamilial CancerHuman medicinebusinessSignal TransductionExpert review of gastroenterology & hepatology
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Th17 skewing in the GALT of a Crohn disease patient upon Lactobacillus rhamnosus GG consumption.

2015

We wish to report on a recent observation we made and that might represent a useful hint for the employment of the so called probiotics in the management of some pathological immune reactions of the gut. By analyzing GALT-associated T cells upon consumption of L. rhamnosus-GG, we obtained some hints that probiotics might have locoregional immunological effects mainly when administered in patients with IBDs rather than in individuals with non-inflamed gut mucosa.

0301 basic medicineSettore MED/17 - Malattie InfettiveImmunologyBioinformaticsPeyer's PatcheProbioticInflammatory bowel diseaseTh17 Cell03 medical and health sciencesPeyer's Patches0302 clinical medicineLactobacillus rhamnosusCrohn DiseaseIntestinal mucosaImmunology and AllergyMedicineHumansConsumption (economics)Settore MED/04 - Patologia Generalebiologybusiness.industryCrohn diseaseLacticaseibacillus rhamnosusInflammatory bowel disease; Intestinal mucosa; Lactobacillus rhamnosus; Mucosal barrier; Probiotics; T cell polarizationProbioticsbiology.organism_classificationMucosal barrierT cell polarization030104 developmental biology030220 oncology & carcinogenesisImmunologyTh17 CellsLactobacillus rhamnosubusinessHumanImmunology letters
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GSK-3 in liver diseases: Friend or foe?

2020

Liver diseases, including hepatitis due to hepatitis B or C virus infection, non-alcoholic fatty liver disease, and hepatocellular carcinoma pose major challenges for overall health due to limited curative treatment options. Thus, there is an urgent need to develop new therapeutic strategies for the treatment of these diseases. A better understanding of the signaling pathways involved in the pathogenesis of liver diseases can help to improve the efficacy of emerging therapies, mainly based on pharmacological approaches, which influence one or more specific molecules involved in key signal transduction pathways. These emerging therapies are very promising for the prevention and treatment of …

0301 basic medicineSignaling pathwaysDruggabilityDiseaseBioinformaticsNon-alcoholic fatty liver disease (NAFLD)Glycogen Synthase Kinase 303 medical and health sciences0302 clinical medicineGSK-3Glycogen synthase kinase 3 (GSK-3)AnimalsHumansMedicineHepatitis B virus (HBV)Molecular Targeted TherapyEnzyme InhibitorsHepatocellular carcinoma (HCC)Molecular BiologyHepatitisbusiness.industryLiver DiseasesFatty liverDisease ManagementHepatitis C virus (HCV)Cell BiologyHepatitis Bmedicine.disease030104 developmental biologyGene Expression RegulationMultigene Family030220 oncology & carcinogenesisHepatocellular carcinomaHost-Pathogen InteractionsDisease SusceptibilitySignal transductionbusinessBiomarkersSignal TransductionBiochimica et Biophysica Acta (BBA) - Molecular Cell Research
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A Genome-Wide Association Study of Attention Function in a Population-Based Sample of Children

2016

BACKGROUND: Attention function filters and selects behaviorally relevant information. This capacity is impaired in some psychiatric disorders and has been proposed as an endophenotype for Attention-Deficit/Hyperactivity Disorder; however, its genetic basis remains largely unknown. This study aimed to identify single nucleotide polymorphism (SNPs) associated with attention function. MATERIALS AND METHODS: The discovery sample included 1655 children (7-12 years) and the replication sample included 546 children (5-8 years). Five attention outcomes were assessed using the computerized Attentional Network Test (ANT): alerting, orienting, executive attention, Hit Reaction time (HRT) and the stand…

0301 basic medicineSocial Scienceslcsh:MedicineGenome-wide association studyBioinformatics0302 clinical medicineHuman geneticsMedicine and Health SciencesMedicinePsychologyAttentionlcsh:ScienceSalut mentalMultidisciplinaryGenètica humanaNeurodegenerative DiseasesGenomicsAlzheimer's diseaseNeurologyResearch ArticleHiperactivitatImaging TechniquesInfants -- DesenvolupamentBrain Structure and FunctionSingle-nucleotide polymorphismNeuroimagingNeuropsychiatric DisordersResearch and Analysis Methods03 medical and health sciencesNeuroimagingDevelopmental NeuroscienceAlzheimer DiseaseMental Health and PsychiatryGenome-Wide Association StudiesGeneticsSNPAllelesbusiness.industrylcsh:RCognitive PsychologyBiology and Life SciencesComputational BiologyHuman GeneticsGenome AnalysisHuman genetics030104 developmental biologyMalaltia d'AlzheimerGenetic LociNeurodevelopmental DisordersEndophenotypeMultiple comparisons problemCognitive ScienceDementiaAdhdlcsh:Qbusiness030217 neurology & neurosurgeryNeuroscience
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MassARRAY determination of somatic oncogenic mutations in solid tumors: Moving forward to personalized medicine.

2016

This article will review the impact of the recently developed MassARRAY technology on our understanding of cancer biology and treatment. Analysis of somatic mutations is a useful tool in selecting personalized therapy, and for predicting the outcome of many solid tumors. Here, we review the literature on the application of MassARRAY technology (Sequenom Hamburg, Germany) to determine the mutation profile of solid tumors from patients. We summarize the use of commercially available panels of mutations - such as OncoCarta™ or other combinations - and their concordance with results obtained by using other technologies, such as next generation sequencing.

0301 basic medicineSomatic cellConcordanceComputational biologymedicine.disease_causeBioinformatics03 medical and health sciences0302 clinical medicineNeoplasmsMedicineHumansRadiology Nuclear Medicine and imagingCancer biologyPersonalized therapyPrecision MedicineOligonucleotide Array Sequence AnalysisMutationbusiness.industryHigh-Throughput Nucleotide SequencingGeneral MedicineOncogenesPrecision medicine030104 developmental biologyOncology030220 oncology & carcinogenesisMutationPersonalized medicinebusinessCancer treatment reviews
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Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

2017

The group of chondrodysplasia with multiple dislocations includes several entities, characterized by short stature, dislocation of large joints, hand and/or vertebral anomalies. Other features, such as epiphyseal or metaphyseal changes, cleft palate, intellectual disability are also often part of the phenotype. In addition, several conditions with overlapping features are related to this group and broaden the spectrum. The majority of these disorders have been linked to pathogenic variants in genes encoding proteins implicated in the synthesis or sulfation of proteoglycans (PG). In a series of 30 patients with multiple dislocations, we have performed exome sequencing and subsequent targeted…

0301 basic medicineSpondyloepimetaphyseal dysplasiabusiness.industry030105 genetics & hereditymedicine.diseaseBioinformaticsPhenotypeShort stature3. Good health03 medical and health sciencesCatel–Manzke syndromeGeneticsEtiologyMedicineLarsen syndromeJoint dislocationmedicine.symptom10. No inequalitybusinessGenetics (clinical)Exome sequencingClinical Genetics
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SpaceScanner: COPASI wrapper for automated management of global stochastic optimization experiments

2017

Abstract Motivation Due to their universal applicability, global stochastic optimization methods are popular for designing improvements of biochemical networks. The drawbacks of global stochastic optimization methods are: (i) no guarantee of finding global optima, (ii) no clear optimization run termination criteria and (iii) no criteria to detect stagnation of an optimization run. The impact of these drawbacks can be partly compensated by manual work that becomes inefficient when the solution space is large due to combinatorial explosion of adjustable parameters or for other reasons. Results SpaceScanner uses parallel optimization runs for automatic termination of optimization tasks in case…

0301 basic medicineStatistics and ProbabilityComputer science0206 medical engineeringComputational Biology02 engineering and technologycomputer.software_genreModels BiologicalBiochemistryComputer Science ApplicationsSet (abstract data type)03 medical and health sciencesComputational Mathematics030104 developmental biologyComputational Theory and MathematicsStochastic optimizationData miningMolecular BiologycomputerSoftware020602 bioinformaticsCombinatorial explosionBioinformatics
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