Search results for "polymorph"

showing 10 items of 2115 documents

Confirmation of TNIP1 but not RHOB and PSORS1C1 as systemic sclerosis risk factors in a large independent replication study

2012

Item does not contain fulltext INTRODUCTION: A recent genome-wide association study in European systemic sclerosis (SSc) patients identified three loci (PSORS1C1, TNIP1 and RHOB) as novel genetic risk factors for the disease. The aim of this study was to replicate the previously mentioned findings in a large multicentre independent SSc cohort of Caucasian ancestry. METHODS: 4389 SSc patients and 7611 healthy controls from different European countries and the USA were included in the study. Six single nucleotide polymorphisms (SNP): rs342070, rs13021401 (RHOB), rs2233287, rs4958881, rs3792783 (TNIP1) and rs3130573 (PSORS1C1) were analysed. Overall significance was calculated by pooled analys…

Oncologymedicine.medical_specialtysystemic sclerosisRHOBImmunologyGenome-wide association studySingle-nucleotide polymorphismBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyArticleWhite PeopleRheumatologyRisk FactorsInternal medicineRhoB GTP-Binding Proteinsystemic sclerosis; genome wide screening; genetic risk factorsmedicinegenetic risk factorsImmunology and AllergySNPHumansGenetic Predisposition to DiseaseAllelerhoB GTP-Binding ProteinRheumatology and AutoimmunityScleroderma Systemicbusiness.industryHaplotypeProteinsgenome wide screeningDNA-Binding ProteinsEuropeHaplotypesCohortEvaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2]businessGenome-Wide Association Study
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Genetic characterization of the nitrate reducing community based on narG nucleotide sequence analysis.

2003

The ability of facultative anerobes to respire nitrate has been ascribed mainly to the activity of a membrane-bound nitrate reductase encoded by the narGHJI operon. Respiratory nitrate reduction is the first step of the denitrification pathway, which is considered as an important soil process since it contributes to the global cycling of nitrogen. In this study, we employed direct PCR, cloning, and sequencing of narG gene fragments to determine the diversity of nitrate-reducing bacteria occurring in soil and in the maize rhizosphere. Libraries containing 727 clones in total were screened by restriction fragment analysis. Phylogenetic analysis of 128 narG sequences separated the clone famili…

OperonDenitrification pathwaySoil ScienceNitrate reductaseNitrate ReductaseZea maysRestriction fragmentBacteria AnaerobicNitrate ReductasesEcology Evolution Behavior and SystematicsEcosystemPhylogenySoil Microbiology[SDV.EE]Life Sciences [q-bio]/Ecology environmentGeneticsRhizosphereNitratesEcologybiologyNucleic acid sequenceSequence Analysis DNAGENETIQUEbiology.organism_classification[SDV.EE] Life Sciences [q-bio]/Ecology environmentbiology.proteinFranceRestriction fragment length polymorphismBacteriaPolymorphism Restriction Fragment LengthMicrobial ecology
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PCR-fingerprinting and RAPD approaches for tracing the source of yeast contamination in a carbonated orange juice production chain.

2005

Aims: To investigate the sort and the origin of the contamination of a packed fruit juice. Methods and Results: Fifty-eight yeast isolates were collected in a survey of two different visits to a carbonated orange juice factory. In each visit, samples were collected, six times, from seven points in the production chain. For each visit, no significant differences were observed among the yeast average values obtained in the control points considered. The random amplified polymorphic DNA (RAPD) with primer P24 and the PCR-fingerprinting with the microsatellites primers (GTG)5 and (GAC)5 were used, in order to discriminate the isolates, rendering 29 composite profiles; the most frequent one (24/…

Orange juiceFood PackagingPasteurizationFood ContaminationGeneral MedicineContaminationBiologyApplied Microbiology and BiotechnologyDNA FingerprintingYeastPichialaw.inventionRAPDMicrobiologyRandom Amplified Polymorphic DNA TechniqueBeverageslawMicrosatelliteFood scienceDNA FungalRibosomal DNAPolymerase chain reactionBiotechnologyCitrus sinensisJournal of applied microbiology
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N,N-Di-n-octyl-N,N-dimethyl and N,N-di-n-nonyl-N,N-dimethyl ammonium cholates: 13C and 15N CPMAS NMR, powder X-ray diffraction and thermoanalytical c…

2009

Abstract N,N-Di-n-octyl-N,N-dimethyl cholate (1) and N,N-di-n-nonyl-N,N-dimethyl ammonium cholate (2) have been prepared by crystallization from equimolar mixtures of sodium cholate and quaternary N,N-di-n-alkyl-N,N-dimethyl (n-octyl or n-nonyl) ammonium bromides. The formed crystalline materials have been structurally characterized by 13C and 15N cross polarization magic angle spinning (CPMAS) NMR, powder X-ray diffraction (PXRD) and thermoanalytical (TGA/DTA and DSC) methods and compared with each other. Powder X-ray diffraction patterns of 1 and 2 reveal clear similarities. Combined with the thermoanalytical data of these structures an existence of two hydrated polymorphs (most probably …

Organic ChemistryInorganic chemistryIonic bondingAnalytical Chemistrylaw.inventionInorganic ChemistryCrystallographychemistry.chemical_compoundchemistryPolymorphism (materials science)lawX-ray crystallographyMagic angle spinningAmmoniumCrystallizationSodium CholateSpectroscopyPowder diffractionJournal of Molecular Structure
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Technological properties of Oenococcus oeni strains isolated from typical southern Italian wines.

2010

Aims:  To isolate indigenous Oenococcus oeni strains suitable as starters for malolactic fermentation (MLF), using a reliable polyphasic approach. Methods and Results: Oenococcus oeni strains were isolated from Nero di Troia wines undergoing spontaneous MLF. Samples were taken at the end of alcoholic fermentation and during MLF. Wine samples were diluted in a sterile physiological solution and plated on MRS and on modified FT80. Identification of O. oeni strains was performed by a polymerase chain reaction (PCR) experiment using strain-specific primers. Strains were further grouped using a multiplex RAPD-PCR analysis. Then, six strains were inoculated in two wine-like media with two differe…

OrganolepticMalatesmalic acidregional winesWineBiologyEthanol fermentationApplied Microbiology and BiotechnologyPolymerase Chain ReactionMicrobiologychemistry.chemical_compoundStarterStress PhysiologicalMalolactic fermentationSulfitesFood scienceLactic Acidmalolactic starterOenococcusOenococcus oeniWineEthanolLo18food and beveragesHydrogen-Ion Concentrationbiology.organism_classificationRandom Amplified Polymorphic DNA TechniquechemistryFermentationFermentationMalic acidOenococcus oeniLetters in applied microbiology
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Stability and nature of the volume collapse of ε-Fe2O3 under extreme conditions

2018

Iron oxides are among the major constituents of the deep Earth’s interior. Among them, the epsilon phase of Fe2O3 is one of the less studied polymorphs and there is a lack of information about its structural, electronic and magnetic transformations at extreme conditions. Here we report the precise determination of its equation of state and a deep analysis of the evolution of the polyhedral units under compression, thanks to the agreement between our experiments and ab-initio simulations. Our results indicate that this material, with remarkable magnetic properties, is stable at pressures up to 27 GPa. Above 27 GPa, a volume collapse has been observed and ascribed to a change of the local env…

PHASE-TRANSFORMATIONEquation of stateMaterials scienceXRDScienceSILICATEIron oxideIRON(III) OXIDEGeneral Physics and Astronomy02 engineering and technology01 natural sciencesGeneral Biochemistry Genetics and Molecular BiologyMantle (geology)ArticlePhysics::Geophysicschemistry.chemical_compoundCondensed Matter::Materials ScienceX-RAY-DIFFRACTIONMAGNETIC PHASESpin crossoverPhase (matter)synchrotron0103 physical sciences[CHIM]Chemical SciencesCRYSTAL-STRUCTUREe-Fe2O3010306 general physicslcsh:ScienceMultidisciplinaryMössbauer spectroscopyIRONQIron(III) oxideSPIN-CROSSOVERGeneral Chemistry021001 nanoscience & nanotechnologySilicateTHERMAL-DECOMPOSITIONEXAFShigh pressureFE2O3 POLYMORPHdiamond anvil cellchemistry13. Climate actionChemical physicslcsh:Q0210 nano-technologyEarth (classical element)Nature Communications
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Common variants conferring risk of schizophrenia

2009

Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative ris…

Pair 6/geneticsGenetics and epigenetic pathways of disease [NCMLS 6]Genome-wide association studyAetiology screening and detection [ONCOL 5]1Q21.1Major Histocompatibility Complex/geneticsMajor Histocompatibility ComplexTranscription Factor 40302 clinical medicineChemicals And Cas Registry NumbersPerception and Action [DCN 1]Copy-number variationPOPULATIONGeneticsPair 18/genetics0303 health scienceseducation.field_of_studyGenomeHuman/geneticsMultidisciplinaryBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsSchizophrenia/*genetics/immunologyGenetic Predisposition to Disease/*genetics3. Good healthDNA-Binding ProteinsNeurogranin/geneticsDISEASESChromosomes Human Pair 6Single Nucleotide/*geneticsFunctional Neurogenomics [DCN 2]Zinc finger protein 804AHumanGenetic MarkersPsychosisGenotypePopulationTranscription Factors/geneticsSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideChromosomesPair 11/geneticsArticleChromosomes; Human; Pair 11/genetics; Pair 18/genetics; Pair 6/genetics; DNA-Binding Proteins/genetics; Genetic Markers/genetics; Genetic Predisposition to Disease/*genetics; Genome; Human/genetics; Genome-Wide Association Study; Genotype; Humans; Major Histocompatibility Complex/genetics; Neurogranin/genetics; Polymorphism; Single Nucleotide/*genetics; Schizophrenia/*genetics/immunology; Transcription Factors/geneticsGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesTranslational research [ONCOL 3]medicineHumansSNPGenetic Predisposition to DiseasePolymorphismGENOME-WIDE ASSOCIATIONeducation030304 developmental biologyGenetic associationGenetic Markers/geneticsHereditary cancer and cancer-related syndromes [ONCOL 1]Genome HumanChromosomes Human Pair 11MEMORYmedicine.diseaseGENENEUROGRANINDELETIONSSchizophreniabiology.proteinNeurograninChromosomes Human Pair 18DNA-Binding Proteins/geneticsMENTAL-RETARDATIONSCAN030217 neurology & neurosurgeryGenome-Wide Association StudyTranscription Factors
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Study on difficulties and misconceptions with modern type systems

2014

Functional programming is often presented as an advantageous programming paradigm by its advocates, but many students and teachers consider it to be hard to learn. One particular hurdle in learning functional programming is mastering the modern type systems employed in these languages. In this article, we identify student difficulties with means of multiple choice questions embedded into the on-line materials of an introductory functional programming course. The most prevalent misconceptions were confusing with parametric polymorphism with subtyping, the assigning too much meaning to variables names, and confounding general language patterns with special cases.

Parametric polymorphismta113Functional programmingComputer sciencePedagogyComputingMilieux_COMPUTERSANDEDUCATIONProgramming paradigmMathematics educationType (model theory)SubtypingMeaning (linguistics)Multiple choice
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Phylogeny and quaternary history of the European montane/alpine endemicSoldanella(Primulaceae) based on ITS and AFLP variation

2001

Soldanella contains 16 species of herbaceous perennials that are endemic to the central and south European high mountains. The genus is ecogeographically subdivided into forest/montane and alpine species. Evolutionary relationships and large-scale biogeographic patterns were inferred from parsimony analyses of the internal transcribed spacer (ITS) regions of nuclear ribosomal DNA, and genetic distance analyses based on amplified fragment length polymorphism (AFLP) markers. The ITS region proved useful for examining subgeneric relationships and testing hypotheses on genus-wide divergence times, whereas the AFLP markers were suitable for studying relationships among closely related taxa and b…

ParaphylybiologyEcologyAllopatric speciationPlant Sciencebiology.organism_classificationSoldanellaPrimulaceaeTaxonGenetic distanceGeneticsAmplified fragment length polymorphismInternal transcribed spacerEcology Evolution Behavior and SystematicsAmerican Journal of Botany
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SNP genotyping elucidates the genetic diversity of Magna Graecia grapevine germplasm and its historical origin and dissemination

2019

Background: Magna Graecia is the ancient name for the modern geopolitical region of South Italy extensively populated by Greek colonizers, shown by archeological and historical evidence to be the oldest wine growing region of Italy, crucial for the spread of specialized viticulture around Mediterranean shores. Here, the genetic diversity of Magna Graecia grape germplasm was assessed and its role in grapevine propagation around the Mediterranean basin was underlined. Results: A large collection of grapevines from Magna Graecia was compared with germplasm from Georgia to the Iberian Peninsula using the 18 K SNP array. A high level of genetic diversity of the analyzed germplasm was determined;…

ParentageDNA PlantGenotypeGreeceMediterranean RegionSNPGenetic VariationMolecular markerGeorgia (Republic)Polymorphism Single NucleotideGenetic diversityCrop ProductionPedigreeItalySpainVitisGenotyping TechniqueSecondary center of domesticationHistory Ancient
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