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showing 10 items of 4384 documents

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

1998

SummaryNail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.

inorganic chemicalsGenotype-phenotype correlationDNA Mutational AnalysisLIM-Homeodomain ProteinsHomeodomainHaploinsufficiencyHeteroduplex AnalysisBiologymedicine.disease_causeGenetic determinismNail patellaNail-Patella SyndromeGenotypemental disordersmedicineGeneticsAnimalsHumansInsulinGenetics(clinical)Promoter Regions GeneticGeneGenetics (clinical)health care economics and organizationsNail patella syndromeGenes DominantGeneticsFamily HealthHomeodomain ProteinsMutationLMX1B.technology industry and agricultureDNArespiratory systemmedicine.diseasePhenotypeRatsPhenotypeMutationCancer researchMutation testingHaploinsufficiencyResearch ArticleTranscription FactorsThe American Journal of Human Genetics
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Domain formation in monolayers

1995

For phospholipids at the air/water interface we demonstrate that molecular chirality in some, but not in all, cases influences the domain shapes. In other cases chirality in the head group region can cause a chiral structure considering the tail arrangement. This indicates head group ordering. Minute changes of the molecular structure may change domain morphology from circular to dendritic. This can be related to slight changes of the lattice structure. In case of a dendritic domain the chains are more tilted, the deviation from hexagonal symmetry is more pronounced, and hence the lattice anisotropy is larger. This can be understood also in view of recent simulations considering diffusion-l…

inorganic chemicalsMacromolecular SubstancesSurface PropertiesHigh Energy Physics::LatticeBiophysicsBiophysical PhenomenaDomain formationMonolayerpolycyclic compoundsheterocyclic compoundsMolecular BiologyPhospholipidsPhysics::Atmospheric and Oceanic PhysicsSurface diffusionMolecular StructureChemistryorganic chemicalsHigh Energy Physics::PhenomenologyWaterStereoisomerismCell BiologyCrystallographyMicroscopy FluorescenceDomain (ring theory)health occupationsChirality (chemistry)OilsMolecular Membrane Biology
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Modeling of the N-terminal Section and the Lumenal Loop of Trimeric Light Harvesting Complex II (LHCII) by Using EPR

2015

The major light harvesting complex II (LHCII) of green plants plays a key role in the absorption of sunlight, the regulation of photosynthesis, and in preventing photodamage by excess light. The latter two functions are thought to involve the lumenal loop and the N-terminal domain. Their structure and mobility in an aqueous environment are only partially known. Electron paramagnetic resonance (EPR) has been used to measure the structure of these hydrophilic protein domains in detergent-solubilized LHCII. A new technique is introduced to prepare LHCII trimers in which only one monomer is spin-labeled. These heterogeneous trimers allow to measure intra-molecular distances within one LHCII mon…

inorganic chemicalsModels MolecularProtein ConformationProtein domainTrimerContext (language use)complex mixturesBiochemistrylaw.inventionchemistry.chemical_compoundBiopolymersProtein structurelawElectron paramagnetic resonanceMolecular BiologySuperhelixfungiElectron Spin Resonance SpectroscopyPhotosystem II Protein ComplexCell Biologyequipment and suppliesCrystallographyMonomerModels ChemicalchemistryThylakoidProtein Structure and FoldingbacteriaJournal of Biological Chemistry
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Prediction of properties of chiral compounds by molecular topology

1998

Abstract A common assumption in chemistry is that chiral behavior is associated with 3-D geometry. However, chiral information is related to symmetry, which allows the topological handling of chiral atoms by weighted graphs and the calculation of new descriptors that give a weight to the corresponding entry in the main diagonal of the topological matrix. In this study, it is demonstrated that, operating in this way, chiral topological indices are obtained that can differentiate the pharmacological activity between pairs of enantiomers. The 50% inhibitory concentration (IC50) values of the D2 dopamine receptor and the σ receptor for a group of 3-hydroxy phenyl piperidines are specifically pr…

inorganic chemicalsStereochemistryIn Vitro TechniquesMain diagonalStructure-Activity RelationshipMatrix (mathematics)PiperidinesComputational chemistryMaterials ChemistryAnimalsHypnotics and SedativesReceptors sigmaheterocyclic compoundsPhysical and Theoretical ChemistrySpectroscopyGroup (mathematics)Chemistryorganic chemicalsStereoisomerismComputer Graphics and Computer-Aided DesignDopamine D2 Receptor AntagonistsCharacter (mathematics)Models ChemicalDrug DesignCentral Nervous System StimulantsMolecular topologyEnantiomerSymmetry (geometry)Chirality (chemistry)Journal of Molecular Graphics and Modelling
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The CdCl2 effects on synthetic DNAs encaged in the nanodomains of a cationic water-in-oil microemulsion

2011

The present work is dedicated to the study of the interactions of CdCl(2) with the synthetic polynucleotides polyAT and polyGC confined in the nanoscopic aqueous compartment of the water-in-oil microemulsion CTAB/pentanol/hexane/water, with the goal to mimic in vitro the situation met by the nucleic acids in vivo. In biological structures, in fact, very long strings of nucleic acids are segregated into very small compartments having a radius exceedingly smaller than the length of the encapsulated macromolecule. For comparison, the behaviour of polyGC was also studied in aqueous solutions of matched composition. The conformational and thermal stabilities of both polynucleotides enclosed in t…

inorganic chemicalsnanodomaincadmiumPolynucleotideswater-in-oil microemulsion; cadmium; model polynucleotidesGeneral Physics and AstronomyDissociation (chemistry)model polynucleotideschemistry.chemical_compoundCadmium ChlorideHexanesOrganic chemistryMicroemulsionPhysical and Theoretical ChemistryAqueous solutionconformational transitionCetrimoniumChemistryCationic polymerizationWaterDNAHexaneUV and CD spectroscopiesreverse micelleChemical engineeringwater-in-oil microemulsionPolynucleotideCetrimonium CompoundsNucleic acidCationic w/o microemulsionEmulsionssynthetic polynucleotideOilsMacromolecule
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Filosofian kahtiajako? : analyyttisen ja mannermaisen filosofian institutionaaliset tekijät

2020

Viimeisten vuosikymmenien aikana filosofian jakoa mannermaiseen ja analyyttiseen on tutkittu laajalti. Sekä kansallisissa että kansainvälisissä tutkimuksissa jaottelun käyttökel-poisuus on yhtäältä kyseenalaistettu mutta toisaalta sitä on myös vahvistettu yliopistofi-losofian opetuksessa, tutkimuksessa ja tieteellisissä kokouksissa. Miten jaottelua nykyään käytetään? Minkälaiset institutionaaliset tekijät ylläpitävät sitä? peerReviewed

institutionaaliset tekijätkoulukunnatfilosofian koulukunnatfilosofiamannermainen filosofiafilosofian sosiologiatieteensosiologiaanalyyttinen filosofiaanalyyttinen ja mannermainen filosofiainstitutionalismiyliopistot
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Multi-parameter analysis of the obstacle scattering problem

2022

Abstract We consider the acoustic field scattered by a bounded impenetrable obstacle and we study its dependence upon a certain set of parameters. As usual, the problem is modeled by an exterior Dirichlet problem for the Helmholtz equation Δu + k 2 u = 0. We show that the solution u and its far field pattern u ∞ depend real analytically on the shape of the obstacle, the wave number k, and the Dirichlet datum. We also prove a similar result for the corresponding Dirichlet-to-Neumann map.

integral equationsshape sensitivity analysisassociated exterior Dirichlet problemDirichlet-to-Neumann operatorApplied MathematicsHelmholtz equation; acoustic scattering; associated exterior Dirichlet problem; Dirichlet-to-Neumann operator; shape sensitivity analysis; perturbed domain; integral equationsacoustic scatteringComputer Science ApplicationsTheoretical Computer Scienceperturbed domainMathematics - Analysis of PDEsSettore MAT/05 - Analisi MatematicaSignal ProcessingFOS: Mathematicsacoustic scattering; associated exterior Dirichlet problem; Dirichlet-to-Neumann operator; Helmholtz equation; integral equations; perturbed domain; shape sensitivity analysisHelmholtz equation35J25 35J05 35P25 31B10 45A05Mathematical PhysicsAnalysis of PDEs (math.AP)
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Pk-yritysten näkemyksiä markkinointiviestinnästä ja alueellisesta mediamainonnasta

2015

Median- ja teknologian murrokset ovat vaikuttaneet sekä kuluttajien median käyttöön, että yritysten mediamainontaan: median käyttö on pirstaloitunut ja digitaaliset välineet ovat yhä merkittävämmässä roolissa ihmisten elämää. Tekninen kehitys on myös mullistanut yritysten markkinointiviestinnän luonteen ja toteuttamisen. Kehityksen seurauksena yksittäiset, perinteiset mediakanavat eivät palvele markkinoijia tai kuluttajia enää entiseen tapaan. Tässä tutkimuksessa tarkastellaan keskisuomalaisten pk-yritysten markkinointiviestinnän suunnitteluaja mediamainontaa nykyisessä toimintaympäristössä. Tutkimus toteutettiin haastattelemalla kahdeksan yrityksen markkinoinnista vastaavia henkilöitä, jot…

integroitu markkinointiviestintäalueellinen mainontamainontaMediamurrosmediakanavatmediaalueellisuuspk-yritysmediamainontapienet ja keskisuuret yrityksetmarkkinointiviestintä
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Suomen Etelämanner-tutkimuksen maine stakeholdereiden silmin

2005

intellectual capitaltunnettuusaineeton pääomapublic sector organizationsmaineAntarcticareputationawarenesstutkimussidosryhmätjulkisyhteisötstakeholdersEtelämanner
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Exclusive measurement of quasi-free η-photoproduction from deuterium

2003

Quasi-free photoproduction of eta-mesons from the deuteron has been measured at the tagged photon facility of the Mainz microtron MAMI with the photon spectrometer TAPS for incident photon energies from the production threshold at 630 MeV up to 820 MeV. In a fully exclusive measurement eta-mesons and recoil nucleons were detected in coincidence. At incident photon energies above the production threshold on the free nucleon, where final state interaction effects are negligible, an almost constant ratio of sigma(n)/sigma(p)=0.66+/-0.10 was found. At lower incident photon energies the ratio rises due to re-scattering effects. The average ratio agrees with the value extracted from a comparison …

interaction [photon p]0.63-0.82 GeVNuclear and High Energy Physicstagged beam [photon]Photoninteraction [photon n]ProtonNuclear Theoryeffect [nucleon resonance]FOS: Physical sciences7. Clean energy01 natural sciencesResonance (particle physics)energy dependenceexperimental results [spectrometer]Nuclear physicsMainz Linacphoton deuteron --> eta n pRecoil0103 physical sciencesddc:530recoil [nucleon]NeutronNuclear Experiment (nucl-ex)ratio [channel cross section]spectator [model]Nuclear Experiment010306 general physicsNuclear ExperimentMicrotronQCPhysicsphotoproduction [eta]010308 nuclear & particles physicsmultiple scatteringphoton deuteron --> eta anythingangular dependenceDeuteriuminteraction [photon deuteron]High Energy Physics::ExperimentAtomic physicsNucleonThe European Physical Journal A
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