Search results for "Mali"

showing 10 items of 3900 documents

LEGO-based generalized set of two linear algebraic 3D bio-macro-molecular descriptors: Theory and validation by QSARs

2019

Abstract Novel 3D protein descriptors based on bilinear, quadratic and linear algebraic maps in R n are proposed. The latter employs the kth 2-tuple (dis) similarity matrix to codify information related to covalent and non-covalent interactions in these biopolymers. The calculation of the inter-amino acid distances is generalized by using several dis-similarity coefficients, where normalization procedures based on the simple stochastic and mutual probability schemes are applied. A new local-fragment approach based on amino acid-types and amino acid-groups is proposed to characterize regions of interest in proteins. Topological and geometric macromolecular cutoffs are defined using local and…

0301 basic medicineStatistics and ProbabilityNormalization (statistics)GeneralizationQuantitative Structure-Activity RelationshipGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineLinear regressionAmino AcidsMathematicsGeneral Immunology and MicrobiologyApplied MathematicsStatistical parameterProteinsGeneral MedicineCollinearityStructural Classification of Proteins databaseSupport vector machine030104 developmental biologyModeling and SimulationTest setLinear ModelsGeneral Agricultural and Biological SciencesAlgorithmSoftware030217 neurology & neurosurgeryJournal of Theoretical Biology
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Evolutionary distances corrected for purifying selection and ancestral polymorphisms.

2019

Abstract Evolutionary distance formulas that take into account effects due to ancestral polymorphisms and purifying selection are obtained on the basis of the full solution of Jukes–Cantor and Kimura DNA substitution models. In the case of purifying selection two different methods are developed. It is shown that avoiding the dimensional reduction implicitly carried out in the conventional model solving is instrumental to incorporate the quoted effects into the formalism. The problem of estimating the numerical values of the model parameters, as well as those of the correction terms, is not addressed.

0301 basic medicineStatistics and ProbabilityTime FactorsADNModel parametersGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesNegative selection0302 clinical medicineQuantitative Biology::Populations and EvolutionStatistical physicsSelection GeneticMolecular clockPhylogenyMathematicsPolymorphism GeneticGeneral Immunology and MicrobiologyApplied MathematicsGeneral MedicineModels biològicsQuantitative Biology::GenomicsBiological EvolutionFormalism (philosophy of mathematics)030104 developmental biologyDimensional reductionModeling and SimulationMutationGeneral Agricultural and Biological Sciences030217 neurology & neurosurgeryEvolució (Biologia)Journal of theoretical biology
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Lymphocyte Subsets and Inflammatory Cytokines of Monoclonal Gammopathy of Undetermined Significance and Multiple Myeloma

2019

Almost all multiple myeloma (MM) cases have been demonstrated to be linked to earlier monoclonal gammopathy of undetermined significance (MGUS). Nevertheless, there are no identified characteristics in the diagnosis of MGUS that have been helpful in differentiating subjects whose cancer may progress to a malignant situation. Regarding malignancy, the role of lymphocyte subsets and cytokines at the beginning of neoplastic diseases is now incontestable. In this review, we have concentrated our attention on the equilibrium between the diverse lymphocyte subsets and the cytokine system and summarized the current state of knowledge, providing an overview of the condition of the entire system in …

0301 basic medicineT lymphocytesimmunosurveillanceReviewMalignancyMonoclonal Gammopathy of Undetermined SignificanceCatalysisInorganic Chemistrylcsh:Chemistry03 medical and health sciences0302 clinical medicineImmune systemSettore MED/43 - Medicina LegaleMonitoring ImmunologicGammopathycytokineMedicineHumansPhysical and Theoretical ChemistryMolecular Biologylcsh:QH301-705.5SpectroscopyMultiple myelomamonoclonal gammopathy of undetermined significance; multiple myeloma; T lymphocytes; cytokine; alarmin; inflammation; immunosurveillancebusiness.industryOrganic ChemistryCancerGeneral Medicinealarminmedicine.diseaseLymphocyte SubsetsComputer Science ApplicationsImmunosurveillancemultiple myeloma030104 developmental biologylcsh:Biology (General)lcsh:QD1-999inflammation030220 oncology & carcinogenesisImmunologyMonoclonalCytokinesbusinessMonoclonal gammopathy of undetermined significance
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QuBiLS-MAS, open source multi-platform software for atom- and bond-based topological (2D) and chiral (2.5D) algebraic molecular descriptors computati…

2017

Background In previous reports, Marrero-Ponce et al. proposed algebraic formalisms for characterizing topological (2D) and chiral (2.5D) molecular features through atom- and bond-based ToMoCoMD-CARDD (acronym for Topological Molecular Computational Design-Computer Aided Rational Drug Design) molecular descriptors. These MDs codify molecular information based on the bilinear, quadratic and linear algebraic forms and the graph-theoretical electronic-density and edge-adjacency matrices in order to consider atom- and bond-based relations, respectively. These MDs have been successfully applied in the screening of chemical compounds of different therapeutic applications ranging from antimalarials…

0301 basic medicineTheoretical computer scienceComputer scienceBilinear interpolationLibrary and Information SciencesTopologyLinear01 natural scienceslcsh:ChemistryToMoCoMD-CARDDDouble stochastic03 medical and health sciencesMatrix (mathematics)SoftwareQuadratic equationMolecular descriptorAtom/bond-based molecular descriptorPhysical and Theoretical ChemistryAlgebraic numberSimple stochasticFree and open source softwarelcsh:T58.5-58.64lcsh:Information technologybusiness.industryQSARMutual probability matricesComputer Graphics and Computer-Aided DesignRotation formalisms in three dimensions0104 chemical sciencesComputer Science Applications010404 medicinal & biomolecular chemistry030104 developmental biologylcsh:QD1-999CheminformaticsBilinear and quadratic indicesbusinessNon-stochasticSoftwareQuBiLS-MASJournal of cheminformatics
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The Coat-Hanger Angle Sign

2016

An infant boy, the second child of healthy parents, was born at 35.5 weeks of gestation by cesarean delivery performed in emergency because of fetal bradycardia and polyhydramnios. At birth his weight was 2770 g (62nd percentile), length 48.3 cm (69th percentile), and head circumference 33.5 cm (64th percentile). Findings of a phys- ical examination showed a broad forehead, a depressed nasal bridge, anteverted nares, a long and protruding philtrum, a high arched palate, retrognathia, joint contractures, and an umbilical hernia. The Apgar score was 6/8 at 1/5 minutes. Because of progressive respiratory distress he required hos- pitalization and noninvasive support ventilation for the first 3…

0301 basic medicineThoraxMaleCoatPediatricsmedicine.medical_specialtyUpd(14)pat030105 genetics & heredityCHA; Kagami-Ogata syndrome; Upd(14)pat; Pediatrics Perinatology and Child HealthKAGAMI-OGATA SYNDROME03 medical and health sciencesmedicineHumansAbnormalities MultipleChromosomes Human Pair 14business.industryKagami-Ogata syndromeInfant NewbornInfantAnatomyThoraxUniparental Disomymedicine.diseaseInfant newbornUniparental disomyPediatrics Perinatology and Child HealthCHAbusinessSign (mathematics)
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Rett Syndrome Mutant Neural Cells Lacks MeCP2 Immunoreactive Bands.

2016

Dysfunctions of MeCP2 protein lead to various neurological disorders such as Rett syndrome and Autism. The exact functions of MeCP2 protein is still far from clear. At a molecular level, there exist contradictory data. MeCP2 protein is considered a single immunoreactive band around 75 kDa by western-blot analysis but several reports have revealed the existence of multiple MeCP2 immunoreactive bands above and below the level where MeCP2 is expected. MeCP2 immunoreactive bands have been interpreted in different ways. Some researchers suggest that multiple MeCP2 immunoreactive bands are unidentified proteins that cross-react with the MeCP2 antibody or degradation product of MeCP2, while others…

0301 basic medicineThreonineHeredityMethyl-CpG-Binding Protein 2Genetic LinkageMutantFluorescent Antibody TechniqueSocial Scienceslcsh:MedicinePC12 CellsBiochemistryEpitopeImmunoenzyme TechniquesCell FusionNeuroblastomaFluorescence MicroscopyAnimal CellsMedicine and Health SciencesPsychologyPost-Translational ModificationPhosphorylationAmino Acidslcsh:ScienceCells CulturedCross ReactivityNeuronsStainingMicroscopyMultidisciplinaryReverse Transcriptase Polymerase Chain ReactionOrganic CompoundsCell StainingLight MicroscopyTransfectionChemistryX-Linked TraitsSex LinkagePhysical SciencesCellular TypesResearch ArticleCell signalingCell Physiologycongenital hereditary and neonatal diseases and abnormalitiesBlotting WesternImmunologyRett syndromeBiologyReal-Time Polymerase Chain ReactionResearch and Analysis MethodsMECP203 medical and health sciencesNeurologiaAntigenHydroxyl Amino Acidsmental disordersmedicineRett SyndromeGeneticsAnimalsHumansRNA MessengerClinical GeneticsHEK 293 cellsOrganic Chemistrylcsh:RChemical CompoundsBiology and Life SciencesProteinsCell Biologymedicine.diseaseMolecular biologyRatsnervous system diseases030104 developmental biologyHEK293 CellsSpecimen Preparation and TreatmentCellular NeuroscienceMutationDevelopmental PsychologyMalaltieslcsh:QNeuroscience
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Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

2016

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brai…

0301 basic medicineUntranslated regionTranscription GeneticCDKL5lcsh:MedicineGene ExpressionArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryExonMice0302 clinical medicineCoding regionProtein Isoformslcsh:ScienceGeneticsRegulation of gene expressionMultidisciplinaryMammalian GenomicsHigh-Throughput Nucleotide SequencingExonsGenomicsNucleic acidsRNA isolationPhenotypeSpasms InfantileResearch ArticleGene isoformBiologyProtein Serine-Threonine KinasesPolyadenylationResearch and Analysis MethodsBiomolecular isolation03 medical and health sciencesGeneticsAnimalsHumansAdultsAmino Acid SequenceMolecular Biology TechniquesGeneMolecular BiologyAlternative splicinglcsh:RGene MappingInfant NewbornBiology and Life SciencesReverse Transcriptase-Polymerase Chain ReactionAlternative Splicing030104 developmental biologyGene Expression RegulationRNA processingAge GroupsAnimal GenomicsMutationPeople and PlacesExon MappingRNAlcsh:QPopulation Groupings030217 neurology & neurosurgeryPloS one
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Multicenter validation study for the certification of a CFTR gene scanning method using next generation sequencing technology.

2018

AbstractBackground:Many European laboratories offer molecular genetic analysis of theCFTRgene using a wide range of methods to identify mutations causative of cystic fibrosis (CF) and CFTR-related disorders (CFTR-RDs). Next-generation sequencing (NGS) strategies are widely used in diagnostic practice, and CE marking is now required for most in vitro diagnostic (IVD) tests in Europe. The aim of this multicenter study, which involved three European laboratories specialized in CF molecular analysis, was to evaluate the performance of Multiplicom’s CFTR MASTR Dx kit to obtain CE-IVD certification.Methods:A total of 164 samples, previously analyzed with well-established “reference” methods for t…

0301 basic medicineValidation studycongenital hereditary and neonatal diseases and abnormalitiesCertification[SDV]Life Sciences [q-bio]Clinical BiochemistrySequencing dataCFTR molecular diagnosiCystic Fibrosis Transmembrane Conductance RegulatorComputational biology030105 genetics & heredityBiologyCFTR molecular diagnosisDNA sequencingIn vitro diagnosticCftr genecystic fibrosis03 medical and health sciencesHumanscystic fibrosiCE-IVD certificationBiochemistry (medical)Reproducibility of ResultsIllumina miseqSequence Analysis DNAGeneral MedicineMolecular analysisEurope030104 developmental biologyMulticenter studycomparative sequencing analysicomparative sequencing analysisMutationnext-generation sequencingMultiplex Polymerase Chain Reaction
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Use of starter cultures ofLactobacillusto induce malolactic fermentation in wine

2017

Background and Aims Oenococcus oeni is the lactic acid bacteria species that best adapts to harsh wine conditions. This species is currently the main component of the malolactic starter cultures used in winemaking. Other species of lactic acid bacteria, however, such as Lactobacillus, can also conduct the malolactic fermentation, especially in low acidity wines. This study aimed to identify suitable Lactobacillus strains and inoculation methods to undertake the malolactic fermentation in wines with pH > 3.5. Methods and Results Six Lactobacillus strains of species L. mali (E4634), L. paracasei (E4539, E4541), L. plantarum (E4538, E4608) and L. satsumensis (E4555) were selected for their goo…

0301 basic medicinebiologyfungifood and beverages04 agricultural and veterinary sciencesHorticulturebiology.organism_classificationYeast040501 horticultureLactic acid03 medical and health scienceschemistry.chemical_compound030104 developmental biologyStarterchemistryLactobacillusMalolactic fermentationFood scienceMalic acid0405 other agricultural sciencesOenococcus oeniWinemakingAustralian Journal of Grape and Wine Research
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Targeted mRNA sequencing of small formalin-fixed and paraffin-embedded breast cancer samples for the quantification of immune and cancer-related genes

2017

0301 basic medicinebusiness.industryHematologyFormalin fixedmedicine.diseaseMolecular biologyParaffin embedded03 medical and health sciencesCancer related genes030104 developmental biology0302 clinical medicineMRNA SequencingImmune systemBreast cancerOncology030220 oncology & carcinogenesisMedicinebusiness
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