Search results for "Ray"

showing 10 items of 8009 documents

Towards development of a statistical framework to evaluate myotonic dystrophy type 1 mRNA biomarkers in the context of a clinical trial

2020

AbstractMyotonic dystrophy type 1 (DM1) is a rare genetic disorder, characterised by muscular dystrophy, myotonia, and other symptoms. DM1 is caused by the expansion of a CTG repeat in the 3’-untranslated region of DMPK. Longer CTG expansions are associated with greater symptom severity and earlier age at onset. The primary mechanism of pathogenesis is thought to be mediated by a gain of function of the CUG-containing RNA, that leads to trans-dysregulation of RNA metabolism of many other genes. Specifically, the alternative splicing (AS) and alternative polyadenylation (APA) of many genes is known to be disrupted. In the context of clinical trials of emerging DM1 treatments, it is important…

0301 basic medicineMicroarrayPhysiologyMicroarraysBioinformaticsBiochemistryMachine Learning0302 clinical medicineMathematical and Statistical TechniquesMedicine and Health SciencesMyotonic DystrophyMuscular dystrophyOligonucleotide Array Sequence AnalysisClinical Trials as TopicMultidisciplinaryMusclesQStatisticsRGenetic disorderMuscle AnalysisBody FluidsNucleic acidsBloodBioassays and Physiological AnalysisTreatment OutcomeGenetic DiseasesPhysical SciencesMedicineRegression AnalysisAnatomyDatabases Nucleic AcidResearch Articlemusculoskeletal diseasesGenetic Markerscongenital hereditary and neonatal diseases and abnormalitiesScienceContext (language use)Linear Regression AnalysisBiostatisticsResearch and Analysis MethodsPolyadenylationMyotonic dystrophyMyotonin-Protein Kinase03 medical and health sciencesmedicineGeneticsHumansRNA MessengerStatistical MethodsLeast-Squares AnalysisGeneClinical GeneticsModels Geneticbusiness.industryAlternative splicingBiology and Life Sciencesmedicine.diseaseMyotoniaAlternative Splicing030104 developmental biologyRNA processingRNAGene expressionbusinessTrinucleotide repeat expansionTrinucleotide Repeat Expansion030217 neurology & neurosurgeryBiomarkersMathematicsForecastingPLoS ONE
researchProduct

Common genes associated with antidepressant response in mouse and man identify key role of glucocorticoid receptor sensitivity.

2017

Response to antidepressant treatment in major depressive disorder (MDD) cannot be predicted currently, leading to uncertainty in medication selection, increasing costs, and prolonged suffering for many patients. Despite tremendous efforts in identifying response-associated genes in large genome-wide association studies, the results have been fairly modest, underlining the need to establish conceptually novel strategies. For the identification of transcriptome signatures that can distinguish between treatment responders and nonresponders, we herein submit a novel animal experimental approach focusing on extreme phenotypes. We utilized the large variance in response to antidepressant treatmen…

0301 basic medicineMicroarraysPhysiologyGene ExpressionBioinformaticsBiochemistryBiomarkers PharmacologicalTranscriptomeMice0302 clinical medicineGlucocorticoid receptorMedicine and Health SciencesBiology (General)DepressionGeneral NeuroscienceBrainDrugsAntidepressantsPhenotypeAntidepressive Agents3. Good healthBody FluidsParoxetineBioassays and Physiological AnalysisBloodMice Inbred DBAMultigene FamilyMajor depressive disorderAntidepressantDNA microarrayAnatomyGeneral Agricultural and Biological SciencesResearch ArticleQH301-705.5Antidepressant drug therapy ; Blood ; Gene regulation ; Biomarkers ; Depression ; Gene expression ; Microarrays ; AntidepressantsBiologyResearch and Analysis MethodsGeneral Biochemistry Genetics and Molecular BiologyBlood Plasma03 medical and health sciencesReceptors GlucocorticoidMental Health and PsychiatrymedicineGeneticsAnimalsHumansGene RegulationPharmacologyDepressive Disorder MajorGeneral Immunology and MicrobiologyMechanism (biology)Mood DisordersGene Expression ProfilingBiology and Life Sciencesmedicine.diseaseGene expression profiling030104 developmental biologyGene Expression RegulationCorticosterone030217 neurology & neurosurgeryBiomarkersPLoS biology
researchProduct

Seroprevalence of Borrelia burgdorferi in Stray Dogs from Southern Italy

2020

Borrelia burgdorferi is a bacterial pathogen transmitted by Ixodes ticks and is responsible for Lyme disease in both humans and dogs. The aim of this work was to evaluate B. burgdorferi diffusion among stray dogs in Palermo (Sicily, Italy) by serological methods in order to study the risk factors associated with the infection. Serum and blood samples of 316 dogs were collected from a shelter in Palermo, and were analyzed for the presence of antibodies against B. burgdorferi by indirect immunofluorescence assay (IFA), and of the ospA gene by real-time PCR, respectively. Seventeen sera (5.4%) were positive for the antibodies via IFA and one blood (0.3%) for ospA via real time PCR. On the basi…

0301 basic medicineMicrobiology (medical)030231 tropical medicineBiologySettore BIO/19 - Microbiologia GeneraleMicrobiologySerology03 medical and health sciences0302 clinical medicineLyme diseaseVirologymedicineSeroprevalenceBorrelia burgdorferilcsh:QH301-705.5PathogenseroprevalenceCommunicationospA gene<i>ospA</i> geneBorrelia burgdorferi seroprevalence030108 mycology & parasitologymedicine.diseasebiology.organism_classificationbacterial infections and mycosesVirologyBreed<i>Borrelia burgdorferi</i>lcsh:Biology (General)Borrelia burgdorferibiology.proteinIxodesAntibodystray dogsIFAMicroorganisms
researchProduct

The clinical impact of PCR‐based point‐of‐care diagnostic in respiratory tract infections in children

2020

Abstract Background Children are commonly affected by respiratory tract infections. Based on clinical symptoms, laboratory evaluation, and imaging, the causative pathogen often cannot be delineated. Point‐of‐care‐testing systems that provide an opportunity for fast detection of common viruses and some bacteria can therefore influence treatment's options. We aimed to examine whether the Biofire® FilmArray® has an effect on antibiotic treatment, duration of antibiotic therapy, and length of hospital stay within a pediatric cohort. Methods We included children who were admitted to inpatient treatment with an acute respiratory tract infection from 02/2017 to 04/2018 using the FA respiratory pan…

0301 basic medicineMicrobiology (medical)Malemedicine.medical_specialtyPathogen detectionAdolescentmedicine.drug_classPoint-of-care testingPoint-of-Care SystemsAntibioticsClinical BiochemistryAdenovirus Infections Human03 medical and health sciences0302 clinical medicineInternal medicinepoint‐of‐care‐testingMedicineImmunology and AllergyHumansChildAcute respiratory tract infectionRespiratory Tract InfectionsResearch ArticlesPoint of careBiochemistry medicalPast medical historyRespiratory tract infectionsbusiness.industryBiofire® FilmArray®acute respiratory tract infectionsBiochemistry (medical)Public Health Environmental and Occupational HealthInfantHematologyLength of StayAnti-Bacterial AgentsMedical Laboratory Technology030104 developmental biology030220 oncology & carcinogenesisCase-Control StudiesChild PreschoolCohortantibiotic treatmentmultiplex RT‐PCRFemalebusinessMultiplex Polymerase Chain ReactionResearch ArticleJournal of Clinical Laboratory Analysis
researchProduct

High vancomycin MICs within the susceptible range in Staphylococcus aureus bacteraemia isolates are associated with increased cell wall thickness and…

2016

Vancomycin minimum inhibitory concentrations (MICs) at the upper end of the susceptible range for Staphylococcus aureus have been associated with poor clinical outcomes of bloodstream infections. We tested the hypothesis that high vancomycin MICs in S. aureus bacteraemia isolates are associated with increased cell wall thickness and suboptimal bacterial internalisation or lysis by human phagocytes. In total, 95 isolates were evaluated. Original vancomycin MICs were determined by Etest. The susceptibility of S. aureus isolates to killing by phagocytes was assessed in a human whole blood assay. Internalisation of bacterial cells by phagocytes was investigated by flow cytometry. Cell wall thic…

0301 basic medicineMicrobiology (medical)Staphylococcus aureusLysisGenotyping Techniques030106 microbiologyBacteremiaMicrobial Sensitivity TestsBiologymedicine.disease_causeStaphylococcal infectionsMicrobiologyFlow cytometry03 medical and health sciences0302 clinical medicineCell WallVancomycinmedicineHumansPharmacology (medical)030212 general & internal medicineMinimum inhibitory concentration (MIC)EtestPhagocytesCell wall thicknessMicrobial Viabilitymedicine.diagnostic_testGeneral MedicineHuman phagocytesStaphylococcal InfectionsFlow CytometryMicroarray Analysismedicine.diseaseEndocytosisAnti-Bacterial AgentsIntracellular killingInfectious DiseasesStaphylococcus aureusBacteremiaVancomycinIntracellularmedicine.drugInternational Journal of Antimicrobial Agents
researchProduct

Revisiting the pH-gated conformational switch on the activities of HisKA-family histidine kinases

2020

13 páginas, 6 figuras, 3 tablas

0301 basic medicineModels MolecularBioquímicaHistidine KinaseProtein ConformationScience030106 microbiologyPhosphataseGeneral Physics and AstronomyMicrobiologiaCrystallography X-RayModels BiologicalBiochemistryMicrobiologyGeneral Biochemistry Genetics and Molecular BiologyCatalysisArticleEnzyme catalysis03 medical and health sciencesResidue (chemistry)Protein structureBacterial ProteinsMultienzyme ComplexesHistidineThermotoga maritimaPhosphorylationlcsh:ScienceAuthor CorrectionHistidineX-ray crystallographyMultidisciplinaryEffectorChemistryEscherichia coli ProteinsQGeneral ChemistryHydrogen-Ion ConcentrationResponse regulator030104 developmental biologyBiochemistryMutationTrans-ActivatorsPhosphorylationlcsh:QBacterial Outer Membrane Proteins
researchProduct

On the (un)coupling of the chromophore, tongue interactions, and overall conformation in a bacterial phytochrome

2018

Phytochromes are photoreceptors in plants, fungi, and various microorganisms and cycle between metastable red light-absorbing (Pr) and far-red light-absorbing (Pfr) states. Their light responses are thought to follow a conserved structural mechanism that is triggered by isomerization of the chromophore. Downstream structural changes involve refolding of the so-called tongue extension of the phytochrome-specific GAF-related (PHY) domain of the photoreceptor. The tongue is connected to the chromophore by conserved DIP and PRXSF motifs and a conserved tyrosine, but the role of these residues in signal transduction is not clear. Here, we examine the tongue interactions and their interplay with …

0301 basic medicineModels MolecularCrystallography X-RayBiochemistrybakteeritProtein structurephotoconversionchromophore-binding domainTransferasestructural biologyCRYSTAL-STRUCTURETyrosineDEINOCOCCUS-RADIODURANSbiologyPhytochromeChemistryREARRANGEMENTSProtein Structure and FoldingDeinococcusmutagenesisBinding domainSignal TransductionMODULEPLANT PHYTOCHROMEPhenylalaninefotobiologia03 medical and health sciencesBacterial Proteinsprotein conformationcell signalingprotein structureBACTERIOPHYTOCHROMEMolecular BiologyX-ray crystallographysoluviestintäphytochromeAGP1BINDING DOMAINBinding Sitesta114030102 biochemistry & molecular biologyta1182Deinococcus radioduransCell BiologyChromophorebiology.organism_classificationphotoreceptor030104 developmental biologyStructural biologyFTIRBiophysicsTyrosineproteiinit3111 Biomedicineröntgenkristallografia
researchProduct

Incorporation of mRNA in Lamellar Lipid Matrices for Parenteral Administration

2018

Molecular pharmaceutics 15(2), 642 - 651 (2018). doi:10.1021/acs.molpharmaceut.7b01022

0301 basic medicineModels MolecularDrug CompoundingKineticsLipid BilayersPharmaceutical Science610TransfectionCell LineMyoblasts03 medical and health sciencesMiceX-Ray DiffractionCationsDrug DiscoveryScattering Small AngleAnimalsRNA Messengerddc:610Lipid bilayerLuciferasesMessenger RNALiposomeDrug CarriersChemistryAqueous two-phase systemRNATransfection030104 developmental biologyDelayed-Action PreparationsLiposomesBiophysicsMolecular Medicinelipids (amino acids peptides and proteins)Drug carrier
researchProduct

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

2018

Myotonic dystrophy type 1 and type 2 (DM1, DM2) are caused by expansions of CTG and CCTG repeats, respectively. RNAs containing expanded CUG or CCUG repeats interfere with the metabolism of other RNAs through titration of the Muscleblind-like (MBNL) RNA binding proteins. DM2 follows a more favorable clinical course than DM1, suggesting that specific modifiers may modulate DM severity. Here, we report that the rbFOX1 RNA binding protein binds to expanded CCUG RNA repeats, but not to expanded CUG RNA repeats. Interestingly, rbFOX1 competes with MBNL1 for binding to CCUG expanded repeats and overexpression of rbFOX1 partly releases MBNL1 from sequestration within CCUG RNA foci in DM2 muscle ce…

0301 basic medicineModels MolecularProtein Conformation alpha-Helical[SDV]Life Sciences [q-bio]General Physics and AstronomyGene ExpressionRNA-binding proteinCrystallography X-Raychemistry.chemical_compoundMOLECULAR-BASISGene expressionMBNL1Myotonic DystrophyComputingMilieux_MISCELLANEOUSMultidisciplinaryCHLORIDE CHANNELQRNA-Binding ProteinsRecombinant Proteins3. Good healthCell biologyCONGENITAL HEART-DISEASEDrosophila melanogasterThermodynamicsSKELETAL-MUSCLERNA Splicing FactorsCUG REPEATSProtein BindingRNA Splicing Factorsmusculoskeletal diseasesSTEADY-STATEcongenital hereditary and neonatal diseases and abnormalitiesScienceRBFOX1BiologyMyotonic dystrophyBinding CompetitiveGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesmedicineEscherichia coliAnimalsHumansProtein Interaction Domains and MotifsBinding siteNucleotide MotifsMuscle SkeletalSPLICING REGULATOR RBFOX2MUSCLEBLIND PROTEINSBinding SitesPRE-MESSENGER-RNARNAGeneral Chemistrymedicine.diseaseDisease Models AnimalKinetics030104 developmental biologychemistryTRIPLET REPEATRNAProtein Conformation beta-Strand3111 Biomedicine
researchProduct

Structure of AP205 Coat Protein Reveals Circular Permutation in ssRNA Bacteriophages.

2016

We are thankful to the MAX-lab staff for their support during our visit at the synchrotron.; International audience; AP205 is a single-stranded RNA bacteriophage that has a coat protein sequence not similar to any other known single-stranded RNA phage. Here, we report an atomic-resolution model of the AP205 virus-like particle based on a crystal structure of an unassembled coat protein dimer and a cryo-electron microscopy reconstruction of the assembled particle, together with secondary structure information from site-specific solid-state NMR data. The AP205 coat protein dimer adopts the conserved Leviviridae coat protein fold except for the N-terminal region, which forms a beta-hairpin in …

0301 basic medicineModels MolecularRNA bacteriophageViral proteinCryo-electron microscopyProtein Conformation010402 general chemistrymedicine.disease_causeCrystallography X-Ray01 natural sciencesvirus-like particleBacteriophage03 medical and health sciencesStructural Biology[CHIM.ANAL]Chemical Sciences/Analytical chemistryLeviviridaemedicineRNA VirusesBacteriophages[SDV.BBM.BC]Life Sciences [q-bio]/Biochemistry Molecular Biology/Biochemistry [q-bio.BM]Molecular BiologyProtein secondary structurebiologyCryoelectron MicroscopyRNA[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologycircular permutationRNA PhagesCircular permutation in proteinsbiology.organism_classification3. Good health0104 chemical sciencesCrystallography030104 developmental biologycoat proteinBiophysicsLeviviridaeCapsid ProteinsJournal of molecular biology
researchProduct