Search results for "Mod"

showing 10 items of 39605 documents

Reconstructing the deep population history of Central and South America

2018

We report genome-wide ancient DNA from 49 individuals forming four parallel time transects in Belize, Brazil, the Central Andes, and the Southern Cone, each dating to at least ∼9,000 years ago. The common ancestral population radiated rapidly from just one of the two early branches that contributed to Native Americans today. We document two previously unappreciated streams of gene flow between North and South America. One affected the Central Andes by ∼4,200 years ago, while the other explains an affinity between the oldest North American genome associated with the Clovis culture and the oldest Central and South Americans from Chile, Brazil, and Belize. However, this was not the primary sou…

0301 basic medicineGene Flow010506 paleontologyHistoryPopulationPopulationPopulation ReplacementBiology01 natural sciencesGenomeMedical and Health SciencesDNA MitochondrialGeneral Biochemistry Genetics and Molecular BiologyGene flowAncient03 medical and health sciencesTheoreticalModelsGeneticsHumansGENÉTICA DE POPULAÇÕESanthropologyIndis de l'Amèrica CentralDNA AncientTransecteducationHistory Ancient0105 earth and related environmental scienceseducation.field_of_studypopulation geneticGenomeGenome HumanHuman Genomepopulation geneticsarchaeologyCentral AmericaDNABiological SciencesSouth AmericaModels TheoreticalArchaeologyMitochondrial030104 developmental biologyAncient DNAGenetics PopulationDevelopmental BiologyHuman
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Apoptosis induced by a HIPK2 full-length-specific siRNA is due to off-target effects rather than prevalence of HIPK2-Δe8 isoform

2017

Small interfering RNAs (siRNAs) are widely used to study gene function and extensively exploited for their potential therapeutic applications. HIPK2 is an evolutionary conserved kinase that binds and phosphorylates several proteins directly or indirectly related to apoptosis. Recently, an alternatively spliced isoform skipping 81 nucleotides of exon 8 (Hipk2-Δe8) has been described. Selective depletion of Hipk2 full-length (Hipk2-FL) with a specific siRNA that spares the Hipk2-Δe8 isoform has been shown to strongly induce apoptosis, suggesting an unpredicted dominant-negative effect of Hipk2-FL over the Δe8 isoform. From this observation, we sought to take advantage and assessed the therape…

0301 basic medicineGene isoformMaleProgrammed cell deathSmall interfering RNACell SurvivalBlotting WesternMice Nudecolorectal cancerApoptosisHIPK2BiologyProtein Serine-Threonine KinasesGene Expression Regulation Enzymologic03 medical and health sciencesExonRNA interferenceCell Line TumorAnimalsHumansViability assayoff-target effectCell Line TransformedSettore MED/04 - Patologia GeneraleKinaseReverse Transcriptase Polymerase Chain ReactionAlternative splicingalternative splicing isoformoff-target effectsExonsHCT116 CellsMolecular biologyXenograft Model Antitumor AssaysCell biologyGene Expression Regulation NeoplasticIsoenzymesAlternative Splicing030104 developmental biologyRNAi TherapeuticsOncologyalternative splicing isoformsNeoplastic Stem CellsRNA InterferenceHIPK2; alternative splicing isoforms; colorectal cancer; off-target effects; siRNA therapeutic applicationsiRNA therapeutic applicationCarrier ProteinsColorectal NeoplasmsGene DeletionResearch Paper
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Histone Deacetylase Inhibitors from Marine Invertebrates

2020

Simple Summary Histone deacetylases (HDACs) are enzymes that control gene expression and are involved in the onset of serious human pathologies, including cancer; hence, their inhibitors (HDACis) have received increased attention in recent years. It is known that marine invertebrates produce significant amounts of molecules showing active pharmacological properties and an extensive spectrum of biomedical applications. This review is focused on the description of the molecular, biochemical, and, where available, physiological aspects of marine invertebrate-derived compounds that possess HDACi properties, taking into consideration their possible utilization as treatment agents against differe…

0301 basic medicineGene isoformbiomedical applicationsmarine invertebratesSettore BIO/05 - ZoologiaComputational biologyReviewhistone deacetylase inhibitorsGeneral Biochemistry Genetics and Molecular BiologyChromatin remodelinganticancer compound03 medical and health sciencesCnidaria0302 clinical medicineNon-histone proteinmarine invertebrateGene expressionEpigeneticsSettore BIO/06 - Anatomia Comparata E Citologiahistone deacetylase inhibitorlcsh:QH301-705.5General Immunology and MicrobiologybiologyMarine invertebratesanticancer compoundsPorifera030104 developmental biologyHistonelcsh:Biology (General)030220 oncology & carcinogenesisbiology.proteinbiomedical applicationHistone deacetylaseGeneral Agricultural and Biological SciencesEchinodermataBiology
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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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Measuring the clustering effect of BWT via RLE

2017

Abstract The Burrows–Wheeler Transform (BWT) is a reversible transformation on which are based several text compressors and many other tools used in Bioinformatics and Computational Biology. The BWT is not actually a compressor, but a transformation that performs a context-dependent permutation of the letters of the input text that often create runs of equal letters (clusters) longer than the ones in the original text, usually referred to as the “clustering effect” of BWT. In particular, from a combinatorial point of view, great attention has been given to the case in which the BWT produces the fewest number of clusters (cf. [5] , [16] , [21] , [23] ). In this paper we are concerned about t…

0301 basic medicineGeneral Computer SciencePermutationComputer Science (all)Binary number0102 computer and information sciencesQuantitative Biology::Genomics01 natural sciencesUpper and lower boundsTheoretical Computer ScienceCombinatorics03 medical and health sciencesPermutation030104 developmental biologyTransformation (function)BWT010201 computation theory & mathematicsRun-length encodingComputer Science::Data Structures and AlgorithmsCluster analysisPrimitive root modulo nBWT; Permutation; Run-length encoding; Theoretical Computer Science; Computer Science (all)Word (computer architecture)Run-length encodingMathematics
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Genetics and Gene Therapy of Anderson-Fabry Disease.

2018

Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In the presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by the demonstration of absence or reduced alpha-galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay …

0301 basic medicineGenetic enhancementChaperone therapyDisease030204 cardiovascular system & hematologyBioinformaticsMice0302 clinical medicineAlpha galactosidase ADrug DiscoveryGenetics (clinical)KidneybiologyTrihexosylceramidesGenetic disorderEnzyme replacement therapyDependovirusRecombinant ProteinsAlpha galactosidase A; Chaperone therapy; Enzyme replacement therapy; Fabry disease; Gene therapy; Viral vectors; Molecular Medicine; Molecular Biology; Genetics; Drug Discovery3003 Pharmaceutical Science; Genetics (clinical)Isoenzymesmedicine.anatomical_structureMolecular Medicinemedicine.symptomGenetic Vectors03 medical and health sciencesGene therapyViral vectorRare DiseasesGeneticGeneticsmedicineAnimalsHumansEnzyme Replacement TherapyMolecular BiologyAlpha-galactosidasebusiness.industryDrug Discovery3003 Pharmaceutical ScienceOrgan dysfunctionGenetic Therapymedicine.diseaseFabry diseaseDisease Models Animal030104 developmental biologyalpha-GalactosidaseMutationbiology.proteinFabry DiseasebusinessBiomarkersCurrent gene therapy
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Molecular disturbance underlies to arrhythmogenic cardiomyopathy induced by transgene content, age and exercise in a truncated PKP2 mouse model

2016

13 páginas, 9 tablas, 2 figuras. Contiene material suplementario.

0301 basic medicineGenetically modified mouseAgingmedicine.medical_specialtyTransgeneCardiomyopathyPlakoglobinConnexin030204 cardiovascular system & hematologyBiologyMice03 medical and health sciences0302 clinical medicineFibrosisInternal medicineGeneticsmedicineAnimalsHumansTransgenesMolecular BiologyArrhythmogenic Right Ventricular DysplasiaGenetics (clinical)General Medicinemedicine.diseasePhenotypeDisease Models Animal030104 developmental biologyEndocrinologyMutationDisease ProgressionPhysical EnduranceDesminPlakophilins
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Regulatory T Cells in an Endogenous Mouse Lymphoma Recognize Specific Antigen Peptides and Contribute to Immune Escape.

2019

Abstract Foxp3+ regulatory T cells (Tregs) sustain immune homeostasis and may contribute to immune escape in malignant disease. As a prerequisite for developing immunologic approaches in cancer therapy, it is necessary to understand the ontogeny and the antigenic specificities of tumor-infiltrating Tregs. We addressed this question by using a λ-MYC transgenic mouse model of endogenously arising B-cell lymphoma, which mirrors key features of human Burkitt lymphoma. We show that Foxp3+ Tregs suppress antitumor responses in endogenous lymphoma. Ablation of Foxp3+ Tregs significantly delayed tumor development. The ratio of Treg to effector T cells was elevated in growing tumors, which could be …

0301 basic medicineGenetically modified mouseCancer ResearchLymphoma B-CellImmunologychemical and pharmacologic phenomenaMice TransgenicT-Lymphocytes RegulatoryEpitope03 medical and health sciences0302 clinical medicineAntigenCell Line TumorMHC class ImedicineAnimalsAntigensbiologyEffectorFOXP3hemic and immune systemsmedicine.diseaseLymphomaMice Inbred C57BL030104 developmental biologyTumor Escape030220 oncology & carcinogenesisCancer researchbiology.proteinTumor EscapePeptidesCancer immunology research
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IL-17A mediated endothelial breach promotes metastasis formation

2015

Abstract The role of the IL23/IL17A axis in tumor–immune interactions is a matter of controversy. Although some suggest that IL17A-producing T cells (TH17) can suppress tumor growth, others report that IL17A and IL23 accelerate tumor growth. Here, we systematically assessed the impact of IL17A-secreting lymphocytes in several murine models of tumor lung metastasis. Genetic fate mapping revealed that IL17A was secreted within lung metastases predominantly by γδ T cells, whereas TH17 cells were virtually absent. Using different tumor models, we found Il17a−/− mice to consistently develop fewer pulmonary tumor colonies. IL17A specifically increased blood vessel permeability and the expression …

0301 basic medicineGenetically modified mouseCancer ResearchPathologymedicine.medical_specialtyLung NeoplasmsEndotheliumImmunologyMelanoma ExperimentalVascular permeability610 Medicine & healthBiology10263 Institute of Experimental ImmunologyCapillary Permeability03 medical and health sciencesCarcinoma Lewis LungCell Line TumormedicineCell AdhesionAnimals1306 Cancer ResearchCell adhesionMice Knockout2403 ImmunologyLungMelanomaInterleukin-17Transendothelial and Transepithelial MigrationEndothelial Cellsmedicine.diseaseMice Inbred C57BL030104 developmental biologymedicine.anatomical_structureCell culture570 Life sciences; biologyInterleukin 17Endothelium VascularNeoplasm Transplantation
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Histone macroH2A1.2 promotes metabolic health and leanness by inhibiting adipogenesis

2016

Background Obesity has tremendous impact on the health systems. Its epigenetic bases are unclear. MacroH2A1 is a variant of histone H2A, present in two alternatively exon-spliced isoforms macroH2A1.1 and macroH2A1.2, regulating cell plasticity and proliferation, during pluripotency and tumorigenesis. Their role in adipose tissue plasticity is unknown. Results Here, we show evidence that macroH2A1.1 protein levels in the visceral adipose tissue of obese humans positively correlate with BMI, while macroH2A1.2 is nearly absent. We thus introduced a constitutive GFP-tagged transgene for macroH2A1.2 in mice, and we characterized their metabolic health upon being fed a standard chow diet or a hig…

0301 basic medicineGenetically modified mouseCyclin-Dependent Kinase Inhibitor p21macroh2a1.2TransgeneAdipose tissueAdipose tissueMice TransgenicBiologyCarbohydrate metabolismDiet High-FatBody Mass IndexCell LineHistones03 medical and health sciencesMiceHistone variantGeneticsAnimalsHumansInsulinEpigeneticsAdipose tissue Histone variants Obesity macroh2a1.2ObesityTranscription factorPancreasMolecular BiologyUncoupling Protein 1SkinHistone variantsAdipogenesisResearchCell DifferentiationGlucose Tolerance TestMolecular biologyCell biologyMice Inbred C57BL030104 developmental biologyPhenotypeLiverMetabolic EngineeringAdipogenesisDNA methylationAdipose tissue; Histone variants; macroh2a1.2; Obesity; Molecular Biology; Genetics
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