Search results for "ASES"

showing 10 items of 26804 documents

ZNF518B gene up-regulation promotes dissemination of tumour cells and is governed by epigenetic mechanisms in colorectal cancer

2019

AbstractMost of colorectal cancer CRC-related death is due to metastasis and the finding of markers for prognosis of invasiveness, constitutes an appealing challenge. Here, after analysing cDNA array containing 43 tumour and 5 normal mucosa samples, we report that the expression of the ZNF518B gene as a whole and that of its two major splicing isoforms are significantly increased in tumours. The canonical isoform was also up-regulated in a patients’ cohort containing 70 tumour and 69 adjacent tissue samples. The effects of silencing ZNF518B on the phenotype of CRC cell lines were then studied. The gene does not affect cell proliferation, but plays a significant role in cell migration and in…

0301 basic medicineGene isoformEpithelial-Mesenchymal TransitionCelllcsh:MedicineBiologyArticleHistone DeacetylasesEpigenesis GeneticHistones03 medical and health sciences0302 clinical medicineCell MovementCell Line TumorGene expressionmedicineGene silencingHumansProtein IsoformsEpigeneticsNeoplasm Metastasislcsh:ScienceGeneCell ProliferationNeoplasm StagingMultidisciplinaryGene Expression Profilinglcsh:RPrognosisColorectal cancer3. Good healthDNA-Binding ProteinsGene Expression Regulation Neoplastic030104 developmental biologymedicine.anatomical_structureHistoneGene Knockdown TechniquesCancer researchbiology.proteinH3K4me3lcsh:QEpigeneticsColorectal Neoplasms030217 neurology & neurosurgeryScientific Reports
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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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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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Retrospective Serological Evidence of High Exposure of Globally Relevant Zoonotic Parasite Toxoplasma Gondii in The Latvian Population

2019

Abstract Toxoplasmosis is an important infection caused by the single-celled parasite Toxoplasma gondii, which is a zoonotic parasite causing widespread human and animal diseases, mostly involving the central nervous system. Humans can acquire toxoplasmosis by ingestion of raw or undercooked meat containing T. gondii tissue cysts, ingestion of oocysts shed by infected felids via contaminated food or water, and by vertical transmission to the fetus through the placenta from the mother during pregnancy. The aim of the present study was to determine the seroprevalence of specific anti-T. gondii IgG and IgM antibodies using a large set of clinical diagnostic laboratory data obtained over a 14-y…

0301 basic medicineGeneral interestScience030231 tropical medicinePopulationSerological evidence03 medical and health sciences0302 clinical medicineparasitic diseasesParasite hostingeducationeducation.field_of_studyMultidisciplinaryseroprevalencebiologyQToxoplasma gondiiLatvian030108 mycology & parasitologybiology.organism_classificationVirologylanguage.human_languagecomorbidityagelarge scalelanguagepregnancytoxoplasmosisProceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.
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Cirrhosis risk score of the donor organ predicts early fibrosis progression after liver transplantation.

2019

Background & Aims: Fibrosis progression (FP) after liver transplantation (LT) increases morbidity and mortality. Biomarkers are needed for early prediction of FP. A recipient’s seven-gene cirrhosis risk score (CRS) has been associated with FP, especially in non-transplant cohorts. A broader validation of CRS, including the genotype of the donor-organ and HCV-negative patients is lacking. We therefore analyzed the impact of donor- and recipient-specific genotypes on FP after LT in a large cohort of HCV-positive and -negative patients.Method: Genotyping from liver biopsies (n=201 donors) and peripheral blood (n=442 recipients) was performed. Cirrhosis risk score was correlated with FP at …

0301 basic medicineGenetic MarkersLiver CirrhosisMalemedicine.medical_specialtyCirrhosisTime Factorsmedicine.medical_treatmentLiver transplantationGastroenterologyRisk Assessment03 medical and health sciences0302 clinical medicineFibrosisRisk FactorsInternal medicineGenotypeotorhinolaryngologic diseasesMedicineHumansCumulative incidenceGenetic Predisposition to DiseaseFramingham Risk Scorebusiness.industryHazard ratioGastroenterologyMiddle Agedmedicine.diseaseTissue DonorsLiver Transplantation030104 developmental biologyPhenotypeTreatment OutcomeDisease Progression030211 gastroenterology & hepatologyFemalebusinessRisk assessmentJournal of gastrointestinal and liver diseases : JGLD
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Aedes albopictus diversity and relationships in south-western Europe and Brazil by rDNA/mtDNA and phenotypic analyses: ITS-2, a useful marker for spr…

2021

AbstractBackgroundAedes albopictusis a very invasive mosquito, which has recently colonized tropical and temperate regions worldwide. Of concern is its role in the spread of emerging or re-emerging mosquito-borne diseases.Ae. albopictusfrom south-western Europe and Brazil were studied to infer genetic and phenetic diversity at intra-individual, intra-population and inter-population levels, and to analyse its spread.MethodsGenotyping was made by rDNA 5.8S-ITS-2 and mtDNAcox1 sequencing to assess haplotype and nucleotide diversity, genetic distances and phylogenetic networks. Male and female phenotyping included combined landmark-and outlined-based geometric morphometrics of wing size and sha…

0301 basic medicineGenetic MarkersMaleEntomologyAedes albopictus030231 tropical medicineZoologyInfectious and parasitic diseasesRC109-216Mosquito VectorsBiologymtDNA cox1DNA MitochondrialDNA RibosomalMolecular haplotypingNucleotide diversity03 medical and health sciences0302 clinical medicineAedesAnimalsWings AnimalSequencingGenetic variabilityDisease vectorGenotypingPhylogenyMorphometricsPhylogenetic treeResearchHaplotypeGenetic Variationbiology.organism_classificationAedes albopictusrDNA 5.8S-ITS-2Europe030104 developmental biologyInfectious DiseasesPhenotypeHaplotypesParasitologyDNA IntergenicFemaleWing geometric morphometryBrazilCloningSouth-western Europe
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Comparison of CRISPR and Marker-Based Methods for the Engineering of Phage T7

2020

This article belongs to the Section Bacterial Viruses.

0301 basic medicineGenetic Markersviruses030106 microbiologyMutantlcsh:QR1-502t7Computational biologyGenome ViralBiologyGenomeArticlelcsh:MicrobiologyBacteriophage03 medical and health sciencesbacteriophageVirologyBacteriophage T7CRISPRClustered Regularly Interspaced Short Palindromic RepeatsGenomescrisprBacteriophageGeneSelection (genetic algorithm)Gene EditingQHT7Viral Tail Proteinsbiology.organism_classificationBacteriòfags3. Good healthQRtail fibres030104 developmental biologyInfectious DiseasesLytic cycleCRISPRMutationTail fibresCRISPR-Cas SystemsHomologous recombinationGenèticaViruses
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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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Treatment strategies for lysosomal storage disorders.

2017

Over the past several years the number of treatments available for patients with lysosomal storage disorders has rapidly increased. Haematopoietic stem cell transplantation, enzyme replacement therapy, substrate reduction, and chaperone therapies are currently available, and gene therapies and other treatments are rapidly advancing. Despite remarkable advances, the efficacy of most of these therapies is limited, particularly because the treatments are usually initiated when organ damage has already occurred. To circumvent this limitation, screening in newborn infants for lysosomal storage disorders has been introduced in many countries. However, this screening is complicated by the broad cl…

0301 basic medicineGenetic enhancementLysosomal storage disordersBioinformatics03 medical and health sciences0302 clinical medicineDevelopmental NeuroscienceSlow progressionMedicineHumansEnzyme Replacement Therapybusiness.industryHematopoietic Stem Cell TransplantationEnzyme replacement therapyGenetic TherapyOrgan damageTransplantationLysosomal Storage Diseases030104 developmental biologyPediatrics Perinatology and Child HealthImmunologyTreatment strategyNeurology (clinical)Stem cellbusiness030217 neurology & neurosurgeryMolecular ChaperonesDevelopmental medicine and child neurology
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Atypical 1,4-dihydropyridine derivatives, an approach to neuroprotection and memory enhancement

2016

This mini review is devoted to the design and pharmacological studies of novel atypical 1,4-dihydropyridine (DHP) derivatives which differ to a great extent from the traditional DHPs either by lack of neuronal calcium channel blocking activity and/or inability to protect mitochondrial processes. About 100 new DHP derivatives were screened and the mostly active were selected for detailed studies. The compounds of the series of the amino acid ("free" plus "crypto")-containing DHPs and lipophilic di-cyclic DHPs demonstrated long-lasting neuroprotective and/or memory-enhancing action, particularly at low doses (0.005-0.05mg/kg) in different neurodeficiency rat or mice models, and exerted neurot…

0301 basic medicineGenetically modified mouseDihydropyridinesDHPSNeurotransmissionBiologyPharmacologyNeuroprotection03 medical and health sciences0302 clinical medicineMemoryAnimalsHumansPharmacologychemistry.chemical_classificationNeurotransmitter AgentsCalcium channelCalcium Channel BlockersNeuroprotectionAmino acid030104 developmental biologychemistrySynaptic plasticityNervous System DiseasesNeurotransmitter AgentsNeuroscience030217 neurology & neurosurgeryPharmacological Research
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