Search results for "NR"

showing 10 items of 6911 documents

Feasibility of sample size calculation for RNA-seq studies

2017

Sample size calculation is a crucial step in study design but is not yet fully established for RNA sequencing (RNA-seq) analyses. To evaluate feasibility and provide guidance, we evaluated RNA-seq sample size tools identified from a systematic search. The focus was on whether real pilot data would be needed for reliable results and on identifying tools that would perform well in scenarios with different levels of biological heterogeneity and fold changes (FCs) between conditions. We used simulations based on real data for tool evaluation. In all settings, the six evaluated tools provided widely different answers, which were strongly affected by FC. Although all tools failed for small FCs, s…

0301 basic medicineFold (higher-order function)Sequence Analysis RNAComputer scienceHigh-Throughput Nucleotide SequencingRNA-Seqcomputer.software_genre03 medical and health sciences030104 developmental biology0302 clinical medicineResearch DesignSample size determinationSample SizeFeasibility StudiesHumansData miningMolecular BiologycomputerSoftware030217 neurology & neurosurgeryInformation SystemsSystematic searchBriefings in Bioinformatics
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MiasDB: A Database of Molecular Interactions Associated with Alternative Splicing of Human Pre-mRNAs.

2016

Alternative splicing (AS) is pervasive in human multi-exon genes and is a major contributor to expansion of the transcriptome and proteome diversity. The accurate recognition of alternative splice sites is regulated by information contained in networks of protein-protein and protein-RNA interactions. However, the mechanisms leading to splice site selection are not fully understood. Although numerous databases have been built to describe AS, molecular interaction databases associated with AS have only recently emerged. In this study, we present a new database, MiasDB, that provides a description of molecular interactions associated with human AS events. This database covers 938 interactions …

0301 basic medicineGene regulatory networklcsh:MedicineRNA-binding proteinRNA-binding proteinscomputer.software_genreBiochemistryHistonesExonDatabase and Informatics MethodsDatabases GeneticProtein Interaction MappingRNA PrecursorsGene Regulatory NetworksDatabase Searchinglcsh:ScienceMultidisciplinaryDatabaseExonsGenomicsGenomic DatabasesNucleic acidsRNA splicingProteomeSequence AnalysisResearch ArticleSequence DatabasesBiologyResponse ElementsResearch and Analysis MethodsGenome Complexity03 medical and health sciencesGeneticsHumansMolecular Biology TechniquesSequencing TechniquesProtein InteractionsGeneMolecular BiologyInternetlcsh:RAlternative splicingIntronBiology and Life SciencesComputational BiologyProteinsGenome AnalysisIntronsAlternative Splicing030104 developmental biologyBiological DatabasesRNA processingRNAlcsh:QRNA Splice SitesGene expressioncomputerProtein KinasesTranscription FactorsPloS one
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Common Hits Approach: Combining Pharmacophore Modeling and Molecular Dynamics Simulations.

2017

We present a new approach that incorporates flexibility based on extensive MD simulations of protein-ligand complexes into structure-based pharmacophore modeling and virtual screening. The approach uses the multiple coordinate sets saved during the MD simulations and generates for each frame a pharmacophore model. Pharmacophore models with the same pharmacophore features are pooled. In this way the high number of pharmacophore models that results from the MD simulation is reduced to only a few hundred representative pharmacophore models. Virtual screening runs are performed with every representative pharmacophore model; the screening results are combined and rescored to generate a single hi…

0301 basic medicineGeneral Chemical EngineeringDrug Evaluation PreclinicalLibrary and Information SciencesMolecular Dynamics Simulationcomputer.software_genreLigandsLigandScoutCommon Hits Approach (CHA)03 medical and health sciencesMolecular dynamicsUser-Computer InterfaceComputational chemistryPharmacophore ModelingFlexibility (engineering)Virtual screeningChemistryFrame (networking)ProteinsGeneral ChemistryInto-structureSettore CHIM/08 - Chimica FarmaceuticaComputer Science Applications030104 developmental biologyData miningPharmacophorecomputerJournal of chemical information and modeling
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MiR-144 overexpression as a promising therapeutic strategy to overcome glioblastoma cell invasiveness and resistance to chemotherapy

2019

Abstract Glioblastoma (GB) is the most aggressive and common form of primary brain tumor, characterized by fast proliferation, high invasion, and resistance to current standard treatment. The average survival rate post-diagnosis is only of 14.6 months, despite the aggressive standard post-surgery treatment approaches of radiotherapy concomitant with chemotherapy with temozolomide. Altered cell metabolism has been identified as an emerging cancer hallmark, including in GB, thus offering a new target for cancer therapies. On the other hand, abnormal expression levels of miRNAs, key regulators of multiple molecular pathways, have been correlated with pathological manifestations of cancer, such…

0301 basic medicineGenetic enhancementmedicine.medical_treatmentBrain tumorAntineoplastic AgentsBiology03 medical and health sciences0302 clinical medicineDownregulation and upregulationCell MovementCell Line TumormicroRNAGeneticsmedicineHumansRNA MessengerU87Molecular BiologyGenetics (clinical)Cell ProliferationTemozolomideBrain NeoplasmsGene Expression ProfilingCancerGeneral Medicinemedicine.disease3. Good healthGene Expression Regulation NeoplasticRadiation therapyMicroRNAs030104 developmental biologyDrug Resistance Neoplasm030220 oncology & carcinogenesisCancer researchEnergy MetabolismGlioblastomamedicine.drugHuman Molecular Genetics
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Exome-Wide Association Study on Alanine Aminotransferase Identifies Sequence Variants in the GPAM and APOE Associated With Fatty Liver Disease.

2021

BACKGROUND & AIMS: Fatty liver disease (FLD) is a growing epidemic that is expected to be the leading cause of end-stage liver disease within the next decade. Both environmental and genetic factors contribute to the susceptibility of FLD. Several genetic variants contributing to FLD have been identified in exome-wide association studies. However, there is still a missing hereditability indicating that other genetic variants are yet to be discovered. METHODS: To find genes involved in FLD, we first examined the association of missense and nonsense variants with alanine amino transferase at an exome-wide level in 425,671 participants from the UK Biobank. We then validated genetic variants wit…

0301 basic medicineGenome-wide association studyLiver disease0302 clinical medicineENRICHMENT ANALYSISNon-alcoholic Fatty Liver DiseaseRisk FactorsNonalcoholic fatty liver diseaseExomeCONFERS SUSCEPTIBILITYGeneticsINSULIN-RESISTANCEmedicine.diagnostic_testFatty liverGastroenterologyAlanine Transaminase1-Acylglycerol-3-Phosphate O-Acyltransferase3. Good healthGENOMEEuropePhenotypeLiver biopsy030211 gastroenterology & hepatologyNonalcoholic Fatty Liver DiseaseMAFLDSingle-nucleotide polymorphismBiologyTransaminaseRisk Assessment03 medical and health sciencesApolipoproteins ENAFLDmedicineGenetic predispositionHumansGenetic Predisposition to DiseaseHEPATIC STEATOSISGenetic associationMAFLD Phenotype Reproducibility of Results Risk Assessment Risk Factors Transcriptome Genetic Variation Metabolic Associated Fatty Liver Disease Nonalcoholic Fatty Liver Disease Transaminase 1-Acylglycerol-3-Phosphate O-Acyltransferase Alanine Transaminase Apolipoproteins E Biomarkers Europe Exome Gene Expression Profiling Genetic Predisposition to Disease Genome-Wide Association Study Humans Non-alcoholic Fatty Liver DiseaseHepatologyMUTATIONSGene Expression ProfilingGenetic VariationReproducibility of Resultsmedicine.diseaseX-RECEPTORGENE030104 developmental biology3121 General medicine internal medicine and other clinical medicineMetabolic Associated Fatty Liver DiseaseRNA-SEQ DATATranscriptomePATHOGENICITYBiomarkersGenome-Wide Association StudyGastroenterology
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CLOVE: classification of genomic fusions into structural variation events

2017

Background A precise understanding of structural variants (SVs) in DNA is important in the study of cancer and population diversity. Many methods have been designed to identify SVs from DNA sequencing data. However, the problem remains challenging because existing approaches suffer from low sensitivity, precision, and positional accuracy. Furthermore, many existing tools only identify breakpoints, and so not collect related breakpoints and classify them as a particular type of SV. Due to the rapidly increasing usage of high throughput sequencing technologies in this area, there is an urgent need for algorithms that can accurately classify complex genomic rearrangements (involving more than …

0301 basic medicineGenomicsBiologycomputer.software_genrelcsh:Computer applications to medicine. Medical informaticsBiochemistryChromosomesDNA sequencingSet (abstract data type)Structural variationUser-Computer Interface03 medical and health sciencesStructural BiologyEscherichia coliHumansCopy-number variationMolecular Biologylcsh:QH301-705.5InternetMethodology ArticleApplied MathematicsBreakpointGenomic rearrangementsDNAGenomicsStructural variationsComputer Science ApplicationsIdentification (information)030104 developmental biologylcsh:Biology (General)Nucleic Acid ConformationGraph (abstract data type)lcsh:R858-859.7Data miningcomputerAlgorithmsBMC Bioinformatics
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Microbial communities of polluted sub-surface marine sediments

2018

Abstract Microbial communities of coastal marine sediment play a key role in degradation of petroleum contaminants. Here the bacterial and archaeal communities of sub-surface sediments (5–10 cm) of the chronically polluted Priolo Bay (eastern coast of Sicily, Italy), contaminated mainly by n-alkanes and biodegraded/weathered oils, were characterized by cultural and molecular approaches. 16S-PCR-DGGE analysis at six stations, revealed that bacterial communities are highly divergent and display lower phylogenetic diversity than the surface sediment; sub-surface communities respond to oil supplementation in microcosms with a significant reduction in biodiversity and a shift in composition; the…

0301 basic medicineGeologic SedimentsSub-surface marine sedimentMicrobial communitiealkB geneMicrobial ConsortiaBiodiversity010501 environmental sciencesAquatic ScienceSettore BIO/19 - Microbiologia GeneraleOceanography01 natural sciencesUnresolved complex mixtures (UCM)Clostridia03 medical and health sciencesRNA Ribosomal 16SMediterranean SeaPetroleum PollutionSicilyPhylogeny0105 earth and related environmental sciencesArcobacterBacteriabiologyDenaturing Gradient Gel ElectrophoresisSedimentBiodiversitySub-surface marine sediments; Microbial communities; alkB genes; Unresolved complex mixtures (UCM); Mediterranean Sea; Biodegradation; Arcobacterbiology.organism_classificationArchaeaPollutionHydrocarbonsPhylogenetic diversityBiodegradation EnvironmentalPetroleum030104 developmental biologyEnvironmental chemistryBiodegradationEnvironmental scienceProteobacteriaMicrocosmBayWater Pollutants ChemicalArchaeaMarine Pollution Bulletin
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Improvements to Healthspan Through Environmental Enrichment and Lifestyle Interventions: Where Are We Now?

2020

Environmental enrichment (EE) is an experimental paradigm that is used to explore how a complex, stimulating environment can impact overall health. In laboratory animal experiments, EE housing conditions typically include larger-than-standard cages, abundant bedding, running wheels, mazes, toys, and shelters which are rearranged regularly to further increase stimulation. EE has been shown to improve multiple aspects of health, including but not limited to metabolism, learning and cognition, anxiety and depression, and immunocompetence. Recent advances in lifespan have led some researchers to consider aging as a risk factor for disease. As such, there is a pressing need to understand the pro…

0301 basic medicineGerontologymedia_common.quotation_subjectContext (language use)ReviewDiseasehealthspanlcsh:RC321-57103 medical and health sciences0302 clinical medicinemedicineQuality (business)hypothalamuslcsh:Neurosciences. Biological psychiatry. Neuropsychiatrymedia_commonEnvironmental enrichmentHPA axisGeneral NeuroscienceLongevityCognitionMedical research030104 developmental biologyBDNFhealthy agingenvironmental enrichmentAnxietymedicine.symptomPsychologylifespan030217 neurology & neurosurgeryNeuroscienceFrontiers in Neuroscience
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MicroRNA-33b Suppresses Epithelial-Mesenchymal Transition Repressing the MYC-EZH2 Pathway in HER2+ Breast Carcinoma

2020

Downregulation of miR-33b has been documented in many types of cancers and is being involved in proliferation, migration, and epithelial-mesenchymal transition (EMT). Furthermore, the enhancer of zeste homolog 2-gene (EZH2) is a master regulator of controlling the stem cell differentiation and the cell proliferation processes. We aim to evaluate the implication of miR-33b in the EMT pathway in HER2+ breast cancer (BC) and to analyze the role of EZH2 in this process as well as the interaction between them. miR-33b is downregulated in HER2+ BC cells vs healthy controls, where EZH2 has an opposite expression in vitro and in patients' samples. The upregulation of miR-33b suppressed proliferatio…

0301 basic medicineHER2+Mama ExamenCancer ResearchmiRNA-33bCellular differentiationVimentinMYCmacromolecular substanceslcsh:RC254-28203 medical and health sciences0302 clinical medicinebreast cancerDownregulation and upregulationmicroRNAGene silencingEpithelial–mesenchymal transitionEZH2CàncerbiologyCell growthChemistryEZH2EMTlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens030104 developmental biologyOncology030220 oncology & carcinogenesisbiology.proteinCancer research
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Functional inhibition of Oct leads to HNF4α upregulation

2021

Organic cation transporters (human, OCT; mouse, Oct) are responsible for the intracellular uptake and detoxification of a broad spectrum of endogenous and exogenous substrates. The OCT1 gene SLC22A1 (human; mouse, Scl22a1) is transactivated by hepatocyte nuclear factor 4α (human, HNF4α; mouse, Hnf4α). HNF4α is a master regulator of hepatocyte differentiation and is frequently associated with hepatocellular carcinoma (HCC). In addition, the downregulation of HNF4α is associated with enhanced fibrogenesis. Our recent study revealed that hepatocarcinogenesis and fibrosis were enhanced with the loss of Oct3 (gene, Slc22a3). Notably, differences in Hnf4α expression, and in cholestasis and fibros…

0301 basic medicineHepatocyte differentiationCancer ResearchOncogeneChemistryArticlesGeneral Medicineorganic cation transportermedicine.diseaseMolecular biology03 medical and health sciencesHepatocyte nuclear factors030104 developmental biology0302 clinical medicineImmunology and Microbiology (miscellaneous)CholestasisDownregulation and upregulationApoptosisFibrosis030220 oncology & carcinogenesisGene expressionmedicineSLC22A3HNF4αSLC22A1Experimental and Therapeutic Medicine
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