Search results for "Rase"

showing 10 items of 4343 documents

Old meets new: Comparative examination of conventional and innovative RNA-based methods for body fluid identification of laundered seminal fluid stai…

2018

Abstract The knowledge about the type of the body fluid/tissue that contributed to a trace can provide contextual insight into crime scene reconstruction and connect a suspect or a victim to a crime scene. Especially in sexual assault cases, it is important to verify the presence of spermatozoa. Victims often tend to clean their underwear/bedding after a sexual assault. If they later decide to report the crime to the police, in our experience, investigators usually do not send laundered items for DNA examination, since they believe that analysis after washing is no longer promising. As not only the individualization of traces on laundered items could be important in court, but also the type…

0301 basic medicineForensic GeneticsMaleComputer scienceSemenStainPolymerase Chain ReactionFluorescencePathology and Forensic Medicine03 medical and health scienceschemistry.chemical_compound0302 clinical medicineSemenBiological propertyGeneticsCrime sceneHumans030216 legal & forensic medicineRNA MessengerFluorescent DyesLaunderingBody fluidbusiness.industryTextilesRNAPattern recognitionDNADNA FingerprintingSpermatozoaIdentification (information)MicroRNAs030104 developmental biologychemistryArtificial intelligencebusinessDNAMicrosatellite RepeatsForensic science international. Genetics
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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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m6A modulates neuronal functions and sex determination in Drosophila

2016

N6-methyladenosine RNA (m6A) is a prevalent messenger RNA modification in vertebrates. Although its functions in the regulation of post-transcriptional gene expression are beginning to be unveiled, the precise roles of m6A during development of complex organisms remain unclear. Here we carry out a comprehensive molecular and physiological characterization of the individual components of the methyltransferase complex, as well as of the YTH domain-containing nuclear reader protein in Drosophila melanogaster. We identify the member of the split ends protein family, Spenito, as a novel bona fide subunit of the methyltransferase complex. We further demonstrate important roles of this complex in …

0301 basic medicineGeneticsMessenger RNAMultidisciplinarybiologyProtein familyMethyltransferase complexEffectorRNA-binding proteinbiology.organism_classificationCell biology03 medical and health sciences030104 developmental biology0302 clinical medicineNuclear proteinDrosophila melanogaster030217 neurology & neurosurgeryDrosophila ProteinNature
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Artemisinin Derivatives Target Topoisomerase 1 and Cause DNA Damage in Silico and in Vitro

2017

DNA topoisomerases 1 and 2 are enzymes that maintain DNA topology and play important essential genome functions, including DNA replication and transcription. Aberrant topoisomerases cause genome instability and a wide range of diseases, cancer in particular. Both Topo 1 and 2 are the targets of valuable anticancer drugs, such as camptothecin. It has been previously shown that artemisinin, a sesquiterpene lactone from Artemisia annua L. also known as qinghaosu, possesses anti-cancer effects and one of its derivatives, artesunate inhibits Topo 2. In this study, we evaluated artemisinin and 40 derivatives as potential Topo 1 inhibitors at first by in silico molecular docking analyses. Five com…

0301 basic medicineGenome instabilityDNA damageArtemisia annua03 medical and health scienceschemistry.chemical_compound0302 clinical medicinemedicinecancerPharmacology (medical)Original ResearchPharmacologytopoisomerasebiologyTopoisomeraselcsh:RM1-950DNA replicationmolecular dockingbiology.organism_classificationMolecular biologyComet assaylcsh:Therapeutics. Pharmacology030104 developmental biologychemistryartemisinin030220 oncology & carcinogenesisbiology.proteinDNA damageCamptothecinDNAmedicine.drugFrontiers in Pharmacology
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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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Generation of a novel next-generation sequencing-based method for the isolation of new human papillomavirus types

2018

Abstract With the advent of new molecular tools, the discovery of new papillomaviruses (PVs) has accelerated during the past decade, enabling the expansion of knowledge about the viral populations that inhabit the human body. Human PVs (HPVs) are etiologically linked to benign or malignant lesions of the skin and mucosa. The detection of HPV types can vary widely, depending mainly on the methodology and the quality of the biological sample. Next-generation sequencing is one of the most powerful tools, enabling the discovery of novel viruses in a wide range of biological material. Here, we report a novel protocol for the detection of known and unknown HPV types in human skin and oral gargle …

0301 basic medicineGenotypeComputational biologyBiologyOral cavityPolymerase Chain ReactionArticleDNA sequencinglaw.inventionCohort Studies03 medical and health scienceslawVirologyHumansProspective StudiesPapillomaviridaePapillomaviridaePolymerase chain reactionDNA PrimersSkinHuman papillomavirus typesMouthHpv typesPapillomavirus InfectionsHigh-Throughput Nucleotide SequencingSequence Analysis DNAIsolation (microbiology)biology.organism_classificationBiological materials030104 developmental biologyDNA ViralVirology
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ABO blood group A transferase and its codon 69 substitution enzymes synthesize FORS1 antigen of FORS blood group system

2019

AbstractHuman histo-blood group A transferase (AT) catalyzes the biosynthesis of oligosaccharide A antigen important in blood transfusion and cell/tissue/organ transplantation. This enzyme may synthesize Forssman antigen (FORS1) of the FORS blood group system when exon 3 or 4 of the AT mRNA is deleted and/or the LeuGlyGly tripeptide at codons 266–268 of AT is replaced by GlyGlyAla. The Met69Ser/Thr substitutions also confer weak Forssman glycolipid synthase (FS) activity. In this study, we prepared the human AT derivative constructs containing any of the 20 amino acids at codon 69 with and without the GlyGlyAla substitution, transfected DNA to newly generated COS1(B3GALNT1 + A4GALT) cells e…

0301 basic medicineGlycobiologylcsh:MedicineArticleABO Blood-Group System03 medical and health scienceschemistry.chemical_compound0302 clinical medicineBiosynthesisTransferasesABO blood group systemImmunogeneticsTransferaseHumansCodonlcsh:ScienceGenechemistry.chemical_classificationMultidisciplinaryMethionineImmunochemistrylcsh:RForssman antigenMolecular biologyAmino acid030104 developmental biologyEnzymechemistryAmino Acid SubstitutionAntigens SurfaceBlood Group AntigensN-Acetylgalactosaminyltransferaseslcsh:Q030217 neurology & neurosurgeryHeLa Cells
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Genetic Diversity of O-Antigens in Hafnia alvei and the Development of a Suspension Array for Serotype Detection.

2016

Hafnia alvei is a facultative and rod-shaped gram-negative bacterium that belongs to the Enterobacteriaceae family. Although it has been more than 50 years since the genus was identified, very little is known about variations among Hafnia species. Diversity in O-antigens (O-polysaccharide, OPS) is thought to be a major factor in bacterial adaptation to different hosts and situations and variability in the environment. Antigenic variation is also an important factor in pathogenicity that has been used to define clones within a number of species. The genes that are required to synthesize OPS are always clustered within the bacterial chromosome. A serotyping scheme including 39 O-serotypes has…

0301 basic medicineGlycobiologylcsh:MedicineArtificial Gene Amplification and ExtensionGenomePolymerase Chain ReactionBiochemistryDatabase and Informatics MethodsNucleic AcidsGene clusterlcsh:SciencePhylogenyGeneticsMultidisciplinaryChromosome BiologyPolysaccharides BacterialO AntigensEnzymesMultigene FamilySequence AnalysisResearch ArticleDNA Bacterial030106 microbiologySequence DatabasesBiologyResearch and Analysis MethodsSensitivity and SpecificityChromosomesBacterial genetics03 medical and health sciencesTransferasesSequence Motif AnalysisPolysaccharidesGenetic variationAntigenic variationGeneticsSerotypingMolecular Biology TechniquesSequencing TechniquesOperonsGeneMolecular BiologyGenetic diversityCircular bacterial chromosomelcsh:RGenetic VariationReproducibility of ResultsBiology and Life SciencesProteinsHafnia alveiCell BiologyDNABiosynthetic Pathways030104 developmental biologyBiological DatabasesEnzymologylcsh:QSequence AlignmentGenome BacterialPLoS ONE
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Molecular partners of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, suggest its involvement in distinct cellular proces…

2018

This study provides first insights into the involvement of hNOT/ALG3, the human counterpart of the Drosophila Neighbour of TID and yeast ALG3 gene, in various putative molecular networks. HNOT/ALG3 encodes two translated transcripts encoding precursor proteins differing in their N-terminus and showing 33% identity with the yeast asparagine-linked glycosylation 3 (ALG3) protein. Experimental evidence for the functional homology of the proteins of fly and man in the N-glycosylation has still to be provided. In this study, using the yeast two-hybrid technique we identify 17 molecular partners of hNOT-1/ALG3-1. We disclose the building of hNOT/ALG3 homodimers and provide experimental evidence f…

0301 basic medicineGlycosylationSaccharomyces cerevisiae ProteinsRNA-binding proteinSaccharomyces cerevisiaeBiologyEndoplasmic ReticulumMannosyltransferases03 medical and health scienceschemistry.chemical_compoundCongenital Disorders of GlycosylationNeoplasmsNuclear Receptor Subfamily 4 Group A Member 2GeneticsAnimalsDrosophila ProteinsHumansMolecular BiologyTranscription factorOSBPGeneGenetics (clinical)Cellular compartmentEndoplasmic reticulumMembrane ProteinsRNA-Binding ProteinsGeneral MedicineLRP1Cell biology030104 developmental biologychemistryNerve DegenerationDrosophilaCarrier ProteinsHuman molecular genetics
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Rapid detection of carbapenem resistance: Targeting a zero level of inadequate empiric antibiotic exposure

2016

Resistance to carbapenems is an increasingly encountered phenomenon in the ICU, complicating empiric and targeted antimicrobial therapy. Infections due to carbapenem-resistant microorganisms are characterized by high morbidity and mortality [1, 2]. Recently, there has been an increasing interest in rapid detection techniques, based on real time on-demand easy-to-use PCR, to detect genes responsible for carbapenem resistance. One of these techniques is the Cepheid Xpert Carba-R assay, which is able to detect and differentiate five of the most frequent genes associated with non-susceptibility to carbapenems in Gram-negative bacteria (bla KPC, bla VIM, bla OXA-48, bla IMP-1, bla NDM). The diag…

0301 basic medicineGram-negative bacteriaLetterCarbapenem resistanceMultidrug-resistant bacteria030106 microbiologyDrug ResistanceDrug resistanceCritical Care and Intensive Care MedicineMicrobiologylaw.invention03 medical and health sciences0302 clinical medicinelawGram-Negative Bacteriapolycyclic compoundsMedicineInfection controlHumansCarbapenem resistance; Multidrug-resistant bacteria; Polymerase chain reaction; Critical Care and Intensive Care MedicinePolymerase chain reactionCarbapenem resistancebiologybusiness.industryOutbreak030208 emergency & critical care medicinebiochemical phenomena metabolism and nutritionbacterial infections and mycosesbiology.organism_classificationAntimicrobialPolymerase chain reactionIntensive Care UnitsCarbapenemsEtiologyCarbapenem resistance; Multidrug-resistant bacteria; Polymerase chain reactionbusiness
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