Search results for "mutation."

showing 10 items of 2808 documents

Protein linear indices of the ‘macromolecular pseudograph α-carbon atom adjacency matrix’ in bioinformatics. Part 1: Prediction of protein stability …

2005

Abstract A novel approach to bio-macromolecular design from a linear algebra point of view is introduced. A protein’s total (whole protein) and local (one or more amino acid) linear indices are a new set of bio-macromolecular descriptors of relevance to protein QSAR/QSPR studies. These amino-acid level biochemical descriptors are based on the calculation of linear maps on R n [ f k ( x m i ) : R n → R n ] in canonical basis. These bio-macromolecular indices are calculated from the kth power of the macromolecular pseudograph α-carbon atom adjacency matrix. Total linear indices are linear functional on R n . That is, the kth total linear indices are linear maps from R n to the scalar R [ f k …

Quantitative structure–activity relationshipClinical BiochemistryQuantitative Structure-Activity RelationshipPharmaceutical ScienceBiochemistryCombinatoricsViral ProteinsLinear formDrug DiscoveryLinear regressionViral Regulatory and Accessory ProteinsMolecular BiologyAlanineChemistryOrganic ChemistryTemperatureLinear modelComputational BiologyProteinsModels TheoreticalLinear discriminant analysisMatthews correlation coefficientRepressor ProteinsAmino Acid SubstitutionTopological indexMutationLinear algebraLinear ModelsMolecular MedicineSoftwareBioorganic & Medicinal Chemistry
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Construction of pseudo-bosons systems

2010

In a recent paper we have considered an explicit model of a PT-symmetric system based on a modification of the canonical commutation relation. We have introduced the so-called {\em pseudo-bosons}, and the role of Riesz bases in this context has been analyzed in detail. In this paper we consider a general construction of pseudo-bosons based on an explicit {coordinate-representation}, extending what is usually done in ordinary supersymmetric quantum mechanics. We also discuss an example arising from a linear modification of standard creation and annihilation operators, and we analyze its connection with coherent states.

Quantum PhysicsComputer sciencequantum mechanicsCreation and annihilation operatorsFOS: Physical sciencesStatistical and Nonlinear PhysicsContext (language use)Mathematical Physics (math-ph)pseudo-bosonConnection (mathematics)Canonical commutation relationAlgebraCoherent statesSupersymmetric quantum mechanicsQuantum statistical mechanicsRepresentation (mathematics)Quantum Physics (quant-ph)Settore MAT/07 - Fisica MatematicaMathematical Physics
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The natural history of Alzheimer disease: a longitudinal presymptomatic and symptomatic study of a familial cohort

2004

BACKGROUND: Knowledge of the evolution of cognitive deficits in Alzheimer disease is important for our understanding of disease progression. Previous reports, however, have either lacked detail or have not covered the presymptomatic stages. OBJECTIVE: To delineate the onset and progression of clinical and neuropsychological abnormalities in familial Alzheimer disease. METHODS: Nineteen subjects with familial Alzheimer disease underwent serial clinical and neuropsychological assessments. Eight of these had undergone presymptomatic assessments. The follow-up period was 1 to 10 years (mean, 5 years). The relative timing of the occurrence of 3 markers of disease onset and progression (onset of …

RISKSettore M-PSI/02 - Psicobiologia E Psicologia FisiologicaCOGNITIVE DECLINEPRESENILIN-1 MUTATIONDIAGNOSIS
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EBV-Induced Gene 3 Transcription Is Induced by TLR Signaling in Primary Dendritic Cells via NF-κB Activation

2005

Abstract The EBV-induced gene 3 (EBI3) is expressed in dendritic cells (DCs) and part of the cytokine IL-27 that controls Th cell development. However, its regulated expression in DCs is poorly understood. In the present study we demonstrate that EBI3 is expressed in splenic CD8−, CD8+, and plasmacytoid DC subsets and is induced upon TLR signaling. Cloning and functional analysis of the EBI3 promoter using in vivo footprinting and mutagenesis showed that stimulation via TLR2, TLR4, and TLR9 transactivated the promoter in primary DCs via NF-κB and Ets binding sites at −90 and −73 bp upstream of the transcriptional start site, respectively. Furthermore, we observed that NF-κB p50/p65 and PU.1…

RNA Capsmedicine.medical_treatmentDNA Mutational AnalysisMolecular Sequence DataImmunologyAntigen-Presenting CellsReceptors Cell SurfaceBiologyCell LineMinor Histocompatibility AntigensJurkat CellsMiceCell Line TumorGene expressionmedicineAnimalsHumansImmunology and AllergyReceptors CytokinePromoter Regions GeneticGlycoproteinsMice KnockoutMembrane GlycoproteinsInnate immune systemBase SequenceToll-Like ReceptorsHEK 293 cellsNF-kappa BTLR9hemic and immune systemsEBI3Dendritic CellsMolecular biologyToll-Like Receptor 2Up-RegulationMice Inbred C57BLToll-Like Receptor 4Protein SubunitsTLR2CytokineGene Expression RegulationToll-Like Receptor 9NIH 3T3 CellsTLR4Protein BindingSignal TransductionThe Journal of Immunology
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Unequal distribution of RT-PCR artifacts along the E1-E2 region of Hepatitis C virus.

2009

Although viral variability studies have focused traditionally on consensus sequences, the relevance of molecular clone sequences for studying viral evolution at the intra-host level is being increasingly recognized. However, for this approach to be reliable, RT-PCR artifacts do not have to contribute excessively to the observed variability. Molecular clone sequences were obtained from an in vitro transcript to estimate the maximum error rate associated to RT-PCR for the Hepatitis C virus (HCV) E1-E2 region. On average, the frequency of RT-PCR errors was one order of magnitude lower than the level of intra-host genetic variability observed in samples from an HCV outbreak. However, RT-PCR err…

RNA virusHepatitis C virusMutational hotspotHepacivirusBiologymedicine.disease_causeDisease OutbreaksViral Envelope ProteinsVirologyGenetic variationmedicineConsensus sequenceSequencingHumansGenetic variabilityVariabilityGeneticsReverse Transcriptase Polymerase Chain ReactionMolecular cloningRNA virusbiology.organism_classificationHepatitis CReverse transcriptaseHypervariable regionHypervariable regionViral evolutionRNA ViralArtifactsJournal of virological methods
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An unusually high substitution rate in transplant-associated BK polyomavirus in vivo is further concentrated in HLA-C-bound viral peptides

2018

Infection with human BK polyomavirus, a small double-stranded DNA virus, potentially results in severe complications in immunocompromised patients. Here, we describe the in vivo variability and evolution of the BK polyomavirus by deep sequencing. Our data reveal the highest genomic evolutionary rate described in double-stranded DNA viruses, i.e., 10−3–10−5 substitutions per nucleotide site per year. High mutation rates in viruses allow their escape from immune surveillance and adaptation to new hosts. By combining mutational landscapes across viral genomes with in silico prediction of viral peptides, we demonstrate the presence of significantly more coding substitutions within predicted cog…

RNA viruses0301 basic medicineMutation ratePhysiologyvirusesUrinePathology and Laboratory Medicinemedicine.disease_causeBiochemistryMedicine and Health SciencesBiology (General)Amino AcidsGenome EvolutionPhylogenyData ManagementMutationOrganic CompoundsHigh-Throughput Nucleotide SequencingPhylogenetic AnalysisDNA virusGenomicsBody FluidsBK virusPhylogeneticsChemistryMedical MicrobiologyViral PathogensViral evolutionVirusesPhysical SciencesEvolutionary RatePathogensAnatomyResearch ArticleComputer and Information SciencesEvolutionary ProcessesQH301-705.5ImmunologyGenome ViralHLA-C AntigensBiologyMicrobiologyMolecular EvolutionViral EvolutionVirusDeep sequencing03 medical and health sciencesVirologyGeneticsmedicineHumansEvolutionary SystematicsMicrobial PathogensMolecular BiologyTaxonomyEvolutionary BiologyPolyomavirus InfectionsOrganic ChemistryOrganismsChemical CompoundsBiology and Life SciencesComputational BiologyProteinsOrgan TransplantationRC581-607030112 virologyVirologyOrganismal EvolutionPeptide FragmentsPolyomaviruses030104 developmental biologyAmino Acid SubstitutionBK VirusMicrobial EvolutionMutationParasitologyImmunologic diseases. AllergyDNA virusesPolyomavirus Infections
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The contribution of epistasis to the architecture of fitness in an RNA virus

2004

4 pages, 2 figures.-- PMID: 15492220 [PubMed].-- PMCID: PMC524436.-- Additional information (Suppl. table S1: Relevant information about each single- and double-nucleotide substitution mutant created) available at: http://www.pnas.org/content/101/43/15376/suppl/DC1

RNA virusesGeneticsDNA ComplementaryMultidisciplinarybiologyEpistasis and functional genomicsRNAEpistasis GeneticEvolutionary biologyRNA virusBiological Sciencesbiology.organism_classificationGenomeInteractions among genome componentsVesicular stomatitis virusFitnessFisher's geometric modelGenotypeMutagenesis Site-DirectedEpistasisRNA VirusesEpistasisCloning MolecularMutationsProceedings of the National Academy of Sciences
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Large-scale analysis of SARS-CoV-2 spike-glycoprotein mutants demonstrates the need for continuous screening of virus isolates

2021

Due to the widespread of the COVID-19 pandemic, the SARS-CoV-2 genome is evolving in diverse human populations. Several studies already reported different strains and an increase in the mutation rate. Particularly, mutations in SARS-CoV-2 spike-glycoprotein are of great interest as it mediates infection in human and recently approved mRNA vaccines are designed to induce immune responses against it. We analyzed 1,036,030 SARS-CoV-2 genome assemblies and 30,806 NGS datasets from GISAID and European Nucleotide Archive (ENA) focusing on non-synonymous mutations in the spike protein. Only around 2.5% of the samples contained the wild-type spike protein with no variation from the reference. Among…

RNA virusesMutation rateCoronavirusesEpidemiologyMolecular biologyT-LymphocytesMutantGene Identification and Analysismedicine.disease_causeGenomeWhite Blood CellsDatabase and Informatics MethodsSequencing techniquesMutation RateAnimal CellsDNA sequencingPathology and laboratory medicineGeneticsMutationMultidisciplinaryT CellsMicrobial MutationQRHigh-Throughput Nucleotide SequencingGenomicsMedical microbiologyVirusesSpike Glycoprotein CoronavirusMedicineSARS CoV 2PathogensCellular TypesTranscriptome AnalysisSequence AnalysisResearch ArticleNext-Generation SequencingSARS coronavirusBioinformaticsImmune CellsScienceImmunologyProtein domainSequence alignmentGenomicsGenome ViralBiologyMicrobiologyAntibodiesDNA sequencingProtein DomainsGeneticsmedicineHumansMutation DetectionPandemicsMedicine and health sciencesBlood CellsBiology and life sciencesSARS-CoV-2OrganismsViral pathogensComputational BiologyCOVID-19Cell BiologyGenome AnalysisMicrobial pathogensResearch and analysis methodsMolecular biology techniquesMutationSequence AlignmentPLOS ONE
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Variability and host-dependency of RNA virus mutation rates

2015

Los virus de ARN pueden infectar todo tipo de organismos, desde los procariotas a los eucariotas superiores, y estos agentes infecciosos parecen particularmente propensos a causar enfermedades emergentes tanto en humanos, animales, como en plantas. Su habilidad para escapar del sistema inmunitario, evadir estrategias antivirales o infectar a nuevas especies son aspecto más de su rápida evolución. Por lo tanto, comprender los procesos básicos del la evolución de los virus de ARN podría ayudar en el diseño de nuevas estrategias antivirales. Una de las principales características de los virus de ARN es su tasa de mutación extremadamente alta. De hecho, la alta diversidad genética de las poblac…

RNA virusesUNESCO::CIENCIAS DE LA VIDAviral mutation rates:CIENCIAS DE LA VIDA [UNESCO]
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Catalytic Reaction Mechanism in Native and Mutant Catechol- O-methyltransferase from the Adaptive String Method and Mean Reaction Force Analysis.

2018

Catechol- O-methyltransferase is an enzyme that catalyzes the methylation reaction of dopamine by S-adenosylmethionine, increasing the reaction rate by almost 16 orders of magnitude compared to the reaction in aqueous solution. Here, we combine the recently introduced adaptive string method and the mean reaction force method, in combination with the structural and electronic descriptors to characterize the reaction mechanism. The catalytic effect of the enzyme is addressed by the comparison of the reaction in the human wild-type enzyme, in the less effective Y68A mutant, and in aqueous solution. The influence of these different environments at different stages of the chemical process and th…

Reaction mechanismS-AdenosylmethionineDopamine010402 general chemistryCatechol O-Methyltransferase01 natural sciencesMethylationCatalysisCatalysisReaction ratechemistry.chemical_compoundCatalytic Domain0103 physical sciencesMaterials ChemistryMoleculeHumansPhysical and Theoretical ChemistryCatecholAqueous solution010304 chemical physicsbiologyChemistryActive siteWaterCombinatorial chemistry0104 chemical sciencesSurfaces Coatings and FilmsMutationbiology.proteinSN2 reactionThermodynamicsThe journal of physical chemistry. B
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