Search results for "bp"

showing 10 items of 672 documents

Common gene expression strategies revealed by genome-wide analysis in yeast

2007

A comprehensive analysis of six variables characterizing gene expression in yeast, including transcription and translation, mRNA and protein amounts, reveals a general tendency for levels of mRNA and protein to be harmonized, and for functionally related genes to have similar values for these variables.

TBX1GeneticsRegulation of gene expressionResearchRNA StabilityStructural geneGenes FungalComputational BiologyGene ExpressionSaccharomyces cerevisiaeBiologyRetinoblastoma-like protein 1EIF4EBP1SaccharomycesGene Expression Regulation FungalMultiprotein ComplexesSNAP23Gene expressionExpressió genèticaCluster AnalysisGeneGenome Biology
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A novel S379A TARDBP mutation associated to late-onset sporadic ALS

2019

Since 2008, several groups have reported a lot of dominant mutations in TARDBP gene as a primary cause of Amyotrophic lateral sclerosis (ALS). Mutations in TARDBP gene are responsible for 4–5% of familial ALS (fALS) and nearly 1% of sporadic ALS (sALS). To date, over 50 dominant mutations were found in TDP-43 in both familial and sporadic ALS patients, most of which were missense mutations in the C-terminal glycine-rich region. Herein, we describe the clinical and genetic analysis of an Italian non-familial ALS patient with a late onset and a rapid disease progression, which led to the discovery of a novel TARDBP mutation. After neurological evaluation, molecular investigation highlighted t…

TDP-43DNA-Binding ProteinMutation MissenseLate onsetDermatologyBiologymedicine.disease_causeGenetic analysisTARDBP03 medical and health sciencesExon0302 clinical medicinemedicineHumansMissense mutation030212 general & internal medicineAmyotrophic lateral sclerosisAge of OnsetTARDBPGeneticsAged 80 and overMutationAmyotrophic Lateral SclerosisGeneral Medicinemedicine.diseaseDNA-Binding ProteinsPsychiatry and Mental healthMutationFemaleNeurology (clinical)Age of onsetALS030217 neurology & neurosurgeryAmyotrophic Lateral SclerosiHuman
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Las TIC como elemento de cohesión en el desarrollo de la oralidad mediante el ABP. Un estudio de caso

2017

Este estudio recoge las evidencias obtenidas de un estudio de caso realizado en un curso de 5º de Educación Primaria donde se analizaron las aportaciones de las TIC en el desarrollo de la competencia comunicativa oral del alumnado desde una metodología integradora como es el ABP. El diseño de diversas estrategias para la recogida y análisis de datos -rúbricas, entrevistas no estructuradas o listas de observación- puso de manifiesto que las TIC contribuyeron a mejoras significativas de su propio desempeño -al ?saber?, al ?saber hacer? y al ?saber ser?-, especialmente en las dimensiones comunicativa y digital.

TIC:CIENCIAS TECNOLÓGICAS [UNESCO]ABPoralidadcurrículo integradoinvestigación educativaUNESCO::CIENCIAS TECNOLÓGICAS@tic. revista d'innovació educativa
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Innovación docente en Derecho del Trabajo: propuestas prácticas

2018

El presente trabajo aborda, desde una perspectiva muy práctica, cuatro ejemplos de innovación docente en la disciplina que impartimos: Derecho del Trabajo. Con el fin de plantear un estudio lo más realista posible se ha escogido una asignatura concreta, como es Derecho del Trabajo II, y se han analizado cuatro propuestas para abordar su explicación en el aula de manera innovadora y atractiva para el alumno, dado que, como es conocido, se trata de una materia en constante evolución y muy ligada a la actualidad, lo que invita, desde luego, a aplicar esas técnicas innovadoras. Se estudia, en primer lugar, el uso de redes sociales como instrumento docente –Facebook, Twitter, blogs, etc.–; en se…

TechnologyminivídeosT05 social sciences050301 educationDerecho del Trabajo IIaprendizaje basado en problemasGeneral MedicineLclase invertidaEducationinnovación docenteaprendizaje basado en proyectos (ABPt)redes sociales0501 psychology and cognitive sciencesDerecho del Trabajo0503 education050104 developmental & child psychology
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Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

2013

Journal article TERT-locus SNPs and leukocyte telomere measures are reportedly associated with risks of multiple cancers. Using the Illumina custom genotyping array iCOGs, we analyzed ~480 SNPs at the TERT locus in breast (n = 103,991), ovarian (n = 39,774) and BRCA1 mutation carrier (n = 11,705) cancer cases and controls. Leukocyte telomere measurements were also available for 53,724 participants. Most associations cluster into three independent peaks. The minor allele at the peak 1 SNP rs2736108 associates with longer telomeres (P = 5.8 × 10!-7), lower risks for estrogen receptor (ER)-negative (P = 1.0 × 10!-8) and BRCA1 mutation carrier (P = 1.1 × 10!-5) breast cancers and altered promot…

TelomeraseMessengerCàncer d'ovariEstrogen receptorAetiology screening and detection [ONCOL 5]0302 clinical medicineBreast cancerRisk FactorsAlternative Splicing; Biomarkers Tumor; Breast Neoplasms; Case-Control Studies; Chromatin; DNA Methylation; Female; Gene Expression Profiling; Genetic Loci; Genetic Predisposition to Disease; Genome-Wide Association Study; Genotype; Humans; Luciferases; Oligonucleotide Array Sequence Analysis; Ovarian Neoplasms; Polymorphism Single Nucleotide; RNA Messenger; Real-Time Polymerase Chain Reaction; Reverse Transcriptase Polymerase Chain Reaction; Risk Factors; Telomerase; Telomere; GeneticsGenotypeBUCCAL CELLSLuciferasesTelomeraseOligonucleotide Array Sequence AnalysisOvarian Neoplasms0303 health sciencesTumorTelòmerReverse Transcriptase Polymerase Chain ReactionGENETIC-VARIATIONCOMMON VARIANTSSingle Nucleotidetert-clptm1l locus; genome-wide association; genetic-variation; susceptibility loci; buccal cells; fibroblasts; common variants; carcinoma; reverse-transcriptase htert; metaanalysisTelomereAetiology screening and detection Immune Regulation [ONCOL 5]Chromatin3. Good healthTumor Markers Biological030220 oncology & carcinogenesisFemaleFIBROBLASTSGenotypeSUSCEPTIBILITY LOCICARCINOMASingle-nucleotide polymorphismBreast NeoplasmsBiologyReal-Time Polymerase Chain ReactionPolymorphism Single NucleotideArticleCàncer de mama03 medical and health sciencesBreast cancerSDG 3 - Good Health and Well-beingTranslational research [ONCOL 3]Ovarian cancermedicineGeneticsBiomarkers TumorHumansGenetic Predisposition to DiseaseRNA MessengerPolymorphismAlleleGENOME-WIDE ASSOCIATIONMETAANALYSIS030304 developmental biologyMolecular epidemiology Aetiology screening and detection [NCEBP 1]Breast cancer susceptibilityHereditary cancer and cancer-related syndromes [ONCOL 1]Translational research Genomic disorders and inherited multi-system disorders [ONCOL 3]Gene Expression ProfilingDNA Methylationmedicine.diseaseMolecular biologyTERT-CLPTM1L LOCUSTelomereMinor allele frequencyAlternative SplicingGenetic LociCase-Control StudiesRNABiomarkersREVERSE-TRANSCRIPTASE HTERTGenome-Wide Association StudyNature genetics
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On the numerical assessment of the thermo-mechanical performances of the DEMO Helium-Cooled Pebble Bed breeding blanket module

2014

Within the framework of the European DEMO Breeder Blanket Programme, a research campaign has been launched by University of Palermo, ENEA-Brasimone and Karlsruhe Institute of Technology to theoretically investigate the thermo-mechanical behavior of the Helium-Cooled Pebble Bed (HCPB) breeding blanket module of the DEMO1 blanket vertical segment, under normal operation and over-pressurization loading scenarios. The research campaign has been carried out following a theoretical-computational approach based on the finite element method (FEM) and adopting a qualified commercial FEM code. A realistic 3D FEM model of the HCPB blanket module central poloidal-radial region has been developed, inclu…

ToroidSteady stateThermo-mechanicsMechanical EngineeringNuclear engineeringHCBP blanketThermo-mechanicchemistry.chemical_elementDEMO reactorThermo-mechanics;DEMO reactor;HCBP blanketBlanketFinite element methodCoolantBreeder (animal)Nuclear Energy and EngineeringchemistryThermalDEMO reactor HCBP blanket Thermo-mechanicsEnvironmental scienceGeneral Materials ScienceSettore ING-IND/19 - Impianti NucleariHeliumCivil and Structural Engineering
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mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral Cortex

2021

AbstractDysregulated mammalian target of rapamycin (mTOR) activity is associated with various neurodevelopmental disorders ranging from idiopathic autism spectrum disorders to syndromes caused by single gene defects. This suggests that maintaining mTOR activity levels in a physiological range is essential for brain development and functioning. Upon activation, mTOR regulates a variety of cellular processes such as cell growth, autophagy and metabolism. On a molecular level, however, the consequences of mTOR activation in the brain are not well understood.Low levels of cholesterol are associated with a wide variety of neurodevelopmental disorders. We here describe numerous genes of the stero…

Transcription GeneticQH301-705.5Primary Cell CulturemTORC1Mechanistic Target of Rapamycin Complex 1BiologySREBPCatalysisArticleInorganic ChemistryMiceAutophagyTranscriptional regulationmedicineAnimalsPhysical and Theoretical ChemistryBiology (General)Molecular BiologyTranscription factorQD1-999mTORC1SpectroscopyPI3K/AKT/mTOR pathwayCerebral CortexNeuronsSterol Regulatory Element Binding ProteinsCell growthTOR Serine-Threonine KinasesOrganic Chemistrycholesterol ; NF-Y ; neurogenesis ; mTOR ; mTORC1 ; SP1 ; SREBPAutophagyGene Expression Regulation DevelopmentalcholesterolGeneral MedicineComputer Science ApplicationsSterol regulatory element-binding proteinCell biologySP1Chemistryneurogenesismedicine.anatomical_structureCCAAT-Binding FactorCerebral cortexmTORNF-YProtein KinasesSignal TransductionInternational Journal of Molecular Sciences
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Mechanism of leptin expression in breast cancer cells: role of hypoxia-inducible factor-1α

2007

We reported previously that the obesity hormone leptin is overexpressed in breast cancer biopsies. Here, we investigated molecular mechanisms involved in this process, focusing on conditions that are associated with obesity, that is, hyperinsulinemia and induction of hypoxia. By using quantitative real-time PCR, immunofluorescent detection of proteins and enzyme-linked immunosorbent assays, we found that treatment of MCF-7 breast cancer cells with high doses of insulin or the hypoxia-mimetic agent CoCl2, or culturing the cells under hypoxic conditions significantly increased the expression of leptin mRNA and protein. Notably, the greatest leptin mRNA and protein expression were observed und…

Transcriptional ActivationCancer Researchmedicine.medical_specialtyActive Transport Cell NucleusBreast NeoplasmsBiologymedicine.disease_causeleptinbreast cancerInternal medicineCoactivatorGene expressionTumor Cells CulturedGeneticsmedicineHumansInsulinHIFp300-CBP Transcription FactorsPromoter Regions GeneticMolecular BiologyCell NucleusRegulation of gene expressionBinding SitesLeptin receptorLeptinPromoterCobaltHypoxia-Inducible Factor 1 alpha SubunitCell HypoxiaGene Expression Regulation NeoplasticEndocrinologyhyperinsulinemiaCarcinogenesisChromatin immunoprecipitationhormones hormone substitutes and hormone antagonistsProtein BindingOncogene
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Modeling multiple taxis: Tumor invasion with phenotypic heterogeneity, haptotaxis, and unilateral interspecies repellence

2021

We provide a short review of existing models with multiple taxis performed by (at least) one species and consider a new mathematical model for tumor invasion featuring two mutually exclusive cell phenotypes (migrating and proliferating). The migrating cells perform nonlinear diffusion and two types of taxis in response to non-diffusing cues: away from proliferating cells and up the gradient of surrounding tissue. Transitions between the two cell subpopulations are influenced by subcellular (receptor binding) dynamics, thus conferring the setting a multiscale character. We prove global existence of weak solutions to a simplified model version and perform numerical simulations for the full se…

Tumor invasionTaxisComputational biologyBiologyMutually exclusive events01 natural sciencesHaptotaxisMultiple taxis and review of modelsRC0254Mathematics - Analysis of PDEsSDG 3 - Good Health and Well-beingCell Behavior (q-bio.CB)Numerical simulationsFOS: MathematicsDiscrete Mathematics and CombinatoricsNonlinear diffusionQA Mathematics0101 mathematicsGlobal existenceQARC0254 Neoplasms. Tumors. Oncology (including Cancer)Genetic heterogeneityInterspecies repellenceApplied Mathematics010102 general mathematicsI-PWCell subpopulationsPhenotypeAC010101 applied mathematicsFOS: Biological sciencesQuantitative Biology - Cell Behavior35Q92 (Primary) 92C17 92C50 (Secondary)Analysis of PDEs (math.AP)Discrete & Continuous Dynamical Systems - B
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El aprendizaje a saltos mediante el uso de equipos de radio definida por software para la docencia en el grado en ingeniería electrónica de telecomun…

2021

[EN] How to design communications systems and its foundations depends on various factors such as the accessibility to learning resources, the academic environment and the audience itself. This article reports how the introduction of learning methodologies based on project based learning (PBL), practical devices and asynchronous working has modified the perception of the students about their learning aptitudes. The combination of traditional and offline sessions, with the PBL methodology to perform practical communications systems demonstrations based on professional SDR devices by group of students is presented and analysed in this article. The quantified outcome of their academic involveme…

UNESCO::CIENCIAS TECNOLÓGICAS::Tecnología de las telecomunicacionesUNESCO::MATEMÁTICAS::Ciencia de los ordenadores::Enseñanza con ayuda de ordenadorInnovación educativaRadio definida por softwareTelecomunicacionesABPDocencia híbridaAprendizaje asíncrono:CIENCIAS TECNOLÓGICAS::Tecnología de las telecomunicaciones [UNESCO]CommunicationsPeer reviewRevisión por pares:MATEMÁTICAS::Ciencia de los ordenadores::Enseñanza con ayuda de ordenador [UNESCO]PBLEducación superiorComputingMilieux_COMPUTERSANDEDUCATIONEnseñanza superiorHybrid teachingTecnologías y educaciónSDRAsynchronous learning
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