Search results for "biologia"

showing 10 items of 2476 documents

Bax transmembrane domain interacts with prosurvival Bcl-2 proteins in biological membranes

2016

The Bcl-2 (B-cell lymphoma 2) protein Bax (Bcl-2 associated X, apoptosis regulator) can commit cells to apoptosis via outer mitochondrial membrane permeabilization. Bax activity is controlled in healthy cells by prosurvival Bcl-2 proteins. C-terminal Bax transmembrane domain interactions were implicated recently in Bax pore formation. Here, we show that the isolated transmembrane domains of Bax, Bcl-xL (B-cell lymphoma-extra large), and Bcl-2 can mediate interactions between Bax and prosurvival proteins inside the membrane in the absence of apoptotic stimuli. Bcl-2 protein transmembrane domains specifically homooligomerize and heterooligomerize in bacterial and mitochondrial membranes. Thei…

0301 basic medicineMultidisciplinary030102 biochemistry & molecular biologyChemistryApoptosis RegulatorapoptosisBiological membraneBiological SciencesBioinformaticsBiotecnologiaOuter mitochondrial membraneoligomerizationtransmembraneCell biologymitochondria03 medical and health sciencesTransmembrane domain030104 developmental biologyMembraneMembranes (Biologia)ApoptosisBcl-2ProteïnesProceedings of the National Academy of Sciences
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Synchronized Activity in The Main and Accessory Olfactory Bulbs and Vomeronasal Amygdala Elicited by Chemical Signals in Freely Behaving Mice

2017

AbstractChemosensory processing in mammals involves the olfactory and vomeronasal systems, but how the activity of both circuits is integrated is unknown. In our study, we recorded the electrophysiological activity in the olfactory bulbs and the vomeronasal amygdala in freely behaving mice exploring a battery of neutral and conspecific stimuli. The exploration of stimuli, including a neutral stimulus, induced synchronic activity in the olfactory bulbs characterized by a dominant theta rhythmicity, with specific theta-gamma coupling, distinguishing between vomeronasal and olfactory structures. The correlated activation of the bulbs suggests a coupling between the stimuli internalization in t…

0301 basic medicineNasal cavityOlfactory systemMaleVomeronasal organmedia_common.quotation_subjectOlfactelcsh:MedicineNeutral stimulusBiologyAmygdalaArticle03 medical and health sciencesMice0302 clinical medicineSex FactorsXarxes neuronals (Neurobiologia)medicineAnimalsOlfactory memoryInternalizationlcsh:Scienceneural circuitsmedia_commonMultidisciplinaryBehavior Animallcsh:RamygdalaAmygdalaOlfactory BulbElectric StimulationElectrophysiology030104 developmental biologymedicine.anatomical_structurenervous systemolfactory bulbFemalelcsh:QVomeronasal OrganNeuroscience030217 neurology & neurosurgery
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Exosomes genetic cargo in lung cancer: a truly Pandora s box

2016

Lung cancer is a highly lethal disease. Targeted therapies have been developed in last years, however survival rates are not improving due to the delay in the diagnosis, making biomarkers one of the most interesting fields of study in cancer. Liquid biopsy has raised as an alternative to tissue biopsy due to improvements in analytical techniques for circulating tumor cells (CTCs), cell free DNA and exosomes. Among all, exosomes have raised as one of the most promising tools to understand the tumor due to their stability in the blood and their similarity to the cells of origin. In the last years, different alterations have been described inside the exosomes derived from non-small cell lung c…

0301 basic medicineNcRNAnon-small cell lung cancer (NSCLC)Non-small cell lung cancer (NSCLC)exosomesReview ArticleBioinformaticsExosomes03 medical and health sciences0302 clinical medicineCirculating tumor cellmicroRNAMedicineLiquid biopsyLung cancerExosomes; Liquid biopsy; NcRNAs; Non-small cell lung cancer (NSCLC); Oncologyliquid biopsyLiquid biopsybusiness.industryNcRNAsCancerncRNAsMICROBIOLOGIAmedicine.diseaseMicrovesiclesExosome030104 developmental biologyCell-free fetal DNAOncology030220 oncology & carcinogenesisCancer researchHuman medicinebusiness
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Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their p…

2020

IntroductionThe Tousled-like kinases 1 and 2 (TLK1 and TLK2) are involved in many fundamental processes, including DNA replication, cell cycle checkpoint recovery and chromatin remodelling. Mutations in TLK2 were recently associated with ‘Mental Retardation Autosomal Dominant 57’ (MRD57, MIM# 618050), a neurodevelopmental disorder characterised by a highly variable phenotype, including mild-to-moderate intellectual disability, behavioural abnormalities, facial dysmorphisms, microcephaly, epilepsy and skeletal anomalies.MethodsWe re-evaluate whole exome sequencing and array-CGH data from a large cohort of patients affected by neurodevelopmental disorders. Using spatial proteomics (BioID) and…

0301 basic medicineNeurobiologia del desenvolupamentMicrocephalymissenseMolecular biologyBiologymedicine.disease_causemedicalloss of function mutation03 medical and health sciencesmutation.0302 clinical medicineNeurodevelopmental disordermedicineChromatin maintenanceMissense mutationmolecular biologygeneticsDevelopmental neurobiologyKinase activitygenetic research; genetics; loss of function mutation; medical; missense; molecular biology; mutationGenetics (clinical)Exome sequencingBiologia molecularGeneticsMutationgenetic researchmedicine.diseaseChromatin030104 developmental biologymutationgenetic030217 neurology & neurosurgery
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Neural stem cells in the adult olfactory bulb core generate mature neurons in vivo.

2021

17 páginas, 7 figuras.

0301 basic medicineNeurobiologia del desenvolupamentRostral migratory streamNeurogenesisSubventricular zoneStem cellsAdult neurogenesis03 medical and health sciencesMiceOlfactory bulb0302 clinical medicineCalretininNeural Stem CellsInterneuronsmedicineAnimalsDevelopmental neurobiologyNeural stem cellsNeuronsbiologyNeurogenesisCell DifferentiationCell BiologyOlfactory BulbNeural stem cellDoublecortinCell biologyOlfactory bulb030104 developmental biologymedicine.anatomical_structurenervous systemSynapsesbiology.proteinMolecular MedicineNeuronNeuNCèl·lules mare030217 neurology & neurosurgeryDevelopmental BiologyStem cells (Dayton, Ohio)REFERENCES
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New functions of Semaphorin 3E and its receptor PlexinD1 during developing and adult hippocampal formation

2018

AbstractThe development and maturation of cortical circuits relies on the coordinated actions of long and short range axonal guidance cues. In this regard, the class 3 semaphorins and their receptors have been seen to be involved in the development and maturation of the hippocampal connections. However, although the role of most of their family members have been described, very few data about the participation of Semaphorin 3E (Sema3E) and its receptor PlexinD1 during the development and maturation of the entorhino-hippocampal (EH) connection are available. In the present study, we focused on determining their roles both during development and in adulthood. We determined a relevant role for…

0301 basic medicineNeurobiologia del desenvolupamentScienceHippocampusNerve Tissue ProteinsSemaphorinsBiologyHippocampal formationHippocampusArticle03 medical and health sciencesMice0302 clinical medicineSemaphorinmedicineAnimalsDevelopmental neurobiologyProgenitor cellReceptorCells CulturedGlycoproteinsNeuronsMultidisciplinaryMembrane GlycoproteinsHippocampus properDentate gyrusQRIntracellular Signaling Peptides and ProteinsGene Expression Regulation DevelopmentalMembrane ProteinsProteinsEmbryonic stem cellCytoskeletal Proteins030104 developmental biologymedicine.anatomical_structurenervous systemMutationMedicineNeuroscienceProteïnes030217 neurology & neurosurgerySignal Transduction
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Evidence of the Red-Queen Hypothesis from Accelerated Rates of Evolution of Genes Involved in Biotic Interactions in Pneumocystis.

2018

Pneumocystis species are ascomycete fungi adapted to live inside the lungs of mammals. These ascomycetes show extensive stenoxenism, meaning that each species of Pneumocystis infects a single species of host. Here, we study the effect exerted by natural selection on gene evolution in the genomes of three Pneumocystis species. We show that genes involved in host interaction evolve under positive selection. In the first place, we found strong evidence of episodic diversifying selection in Major surface glycoproteins (Msg). These proteins are located on the surface of Pneumocystis and are used for host attachment and probably for immune system evasion. Consistent with their function as antigen…

0301 basic medicineNonsynonymous substitutionGenome evolutionNatural selectionESTADISTICA E INVESTIGACION OPERATIVA030106 microbiologyBiologyEvolution MolecularFungal Proteins03 medical and health sciencesGene Expression Regulation FungalBIOQUIMICA Y BIOLOGIA MOLECULARGeneticsMajors surface glycoproteinsSelection GeneticGeneEcology Evolution Behavior and SystematicsStenoxenismGeneticsFungal proteinNatural selectionMembrane GlycoproteinsPneumocystisFungal geneticsBiota3. Good healthGlycosylphosphatidylinositol030104 developmental biologyRed Queen hypothesisFunction (biology)Research Article
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Prospective multicenter real-world RAS mutation comparison between OncoBEAM-based liquid biopsy and tissue analysis in metastatic colorectal cancer

2018

[EN] BACKGROUND: Liquid biopsy offers a minimally invasive alternative to tissue-based evaluation of mutational status in cancer. The goal of the present study was to evaluate the aggregate performance of OncoBEAM RAS mutation analysis in plasma of colorectal cancer (CRC) patients at 10 hospital laboratories in Spain where this technology is routinely implemented. METHODS: Circulating cell-free DNA from plasma was examined for RAS mutations using the OncoBEAM platform at each hospital laboratory. Results were then compared to those obtained from DNA extracted from tumour tissue from the same patient. RESULTS: The overall percentage agreement between plasma-based and tissue-based RAS mutatio…

0301 basic medicineOncologyMaleCancer ResearchColorectal cancerPlus cetuximab treatmentBIOLOGIA CELULARmedicine.disease_cause0302 clinical medicineAnti-EGFR therapyMedicineProspective StudiesNeoplasm MetastasisProspective cohort studyAged 80 and overFolfiriMiddle AgedNeoplastic Cells CirculatingErbB ReceptorsOncology030220 oncology & carcinogenesisFOLFIRIFemaleKRASColorectal NeoplasmsCell-Free Nucleic AcidsCòlon -- Càncer -- Aspectes genèticsAdultmedicine.medical_specialtyConcordanceClinical-RelevanceArticle03 medical and health sciencesInternal medicineHumansClinical significanceLiquid biopsyAgedCirculating tumor DNAbusiness.industryGrowth-Factor receptorLiquid BiopsyCancermedicine.diseaseBraf030104 developmental biologyGenes rasMutationKrasHeterogeneitybusinessDigital PCR
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Prevalence and clinical association of gene mutations through multiplex mutation testing in patients with NSCLC

2017

[EN] Background Reported prevalence of driver gene mutations in non-small-cell lung cancer (NSCLC) is highly variable and clinical correlations are emerging. Using NSCLC biomaterial and clinical data from the European Thoracic Oncology Platform Lungscape iBiobank, we explore the epidemiology of mutations and association to clinicopathologic features and patient outcome (relapse-free survival, time-to-relapse, overall survival). Methods Clinically annotated, resected stage I¿III NSCLC FFPE tissue was assessed for gene mutation using a microfluidics-based multiplex PCR platform. Mutant-allele detection sensitivity is¿>1% for most of the ~150 (13 genes) mutations covered in the multiplex test.…

0301 basic medicineOncologyMaleLung NeoplasmsDNA Mutational AnalysisKRAS MUTATIONSGene mutationmedicine.disease_cause0302 clinical medicinemultiplex mutation analysisCarcinoma Non-Small-Cell LungMultiplex mutation analysisPrevalenceMultiplexAnaplastic Lymphoma KinaseHETEROGENEITYAged 80 and overMutationSmokingHematologyMiddle AgedProto-Oncogene Proteins c-metProgression-Free SurvivalOncology030220 oncology & carcinogenesisAdenocarcinomaFemaleKRASPREDICT SURVIVALAdultmedicine.medical_specialtyEGFRCELL LUNG-CANCERPrognosis molecular stagingprognosis molecular stagingEGFR KRAS PIK3CAVALIDATION03 medical and health sciencesYoung AdultInternal medicineMultiplex polymerase chain reactionmedicineKRASTYROSINE KINASE INHIBITORSHumansProgression-free survivalLung cancerAgedNeoplasm Stagingbusiness.industryMICROBIOLOGIAADENOCARCINOMAAMPLIFICATIONPIK3CAmedicine.disease030104 developmental biologynon-small-cell lung cancerMutationOVEREXPRESSIONbusinessMultiplex Polymerase Chain ReactionNon-small-cell lung cancerAnnals of Oncology
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A pilot study of circulating microRNAs as potential biomarkers of Fabry disease

2018

Patients suffering from Fabry disease (FD), a lysosomal storage disorder, show a broad range of symptoms and the diagnosis followed by the therapeutic decision remains a great challenge. The biomarkers available today have not proven to be useful for predicting the evolution of the disease and for assessing response to therapy in many patients. Here, we used high-throughput microRNA profiling methodology to identify a specific circulating microRNA profile in FD patients. We discovered a pattern of 10 microRNAs able to identify FD patients when compared to healthy controls. Notably, two of these: the miR199a-5p and the miR-126-3p are able to discriminate FDs from the control subjects with le…

0301 basic medicineOncologymedicine.medical_specialtyDisease030204 cardiovascular system & hematologyLeft ventricular hypertrophy03 medical and health sciences0302 clinical medicineSettore BIO/13 - Biologia ApplicataInternal medicinemedicinePathologyEndothelial dysfunctionPathologicalFabry diseasebusiness.industryMicroRNAEnzyme replacement therapyBiomarkermedicine.diseaseFabry diseaseBiomarker; ERT; Fabry disease; LVH; MicroRNA; Pathology; OncologyCirculating MicroRNALVH030104 developmental biologyOncologyBiomarker (medicine)ERTbusiness
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