Search results for "dominant"

showing 10 items of 231 documents

Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP

2010

Objective To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. Design Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records. DNA analysis was carried out in several affected subjects and healthy individuals. Neuropathologic examination was performed in 2 subjects. Setting Southern Lombardy, Italy. Patients Individuals with and without amyloidosis in 4 unrelated Italian families (N = 37). Main Outcome Measure Genotype-phenotype relationship. Results The affected individuals presented with recurrent headach…

MalePathologymedicine.medical_specialtySubarachnoid hemorrhageGenotypeApolipoprotein E4Glutamic AcidNeuropathologyAmyloid beta-Protein PrecursorGene FrequencyArts and Humanities (miscellaneous)medicineHumansGenetic Predisposition to DiseaseCognitive declineAgedCerebral HemorrhageFamily HealthAmyloid beta-Peptidesbusiness.industryLysineAmyloidosisLeukoaraiosisAutosomal dominant traitMiddle Agedmedicine.diseaseMagnetic Resonance ImagingPeptide FragmentsItalyHemosiderinMutationHereditary cerebral hemorrhage with amyloidosisFemaleNeurology (clinical)businessAmyloidosis FamilialGenome-Wide Association Study
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Knee-clicks and visual traits indicate fighting ability in eland antelopes: multiple messages and back-up signals

2008

Abstract Background Given the costs of signalling, why do males often advertise their fighting ability to rivals using several signals rather than just one? Multiple signalling theories have developed largely in studies of sexual signals, and less is known about their applicability to intra-sexual communication. We here investigate the evolutionary basis for the intricate agonistic signalling system in eland antelopes, paying particular attention to the evolutionary phenomenon of loud knee-clicking. Results A principal components analysis separated seven male traits into three groups. The dominant frequency of the knee-clicking sound honestly indicated body size, a main determinant of fight…

MalePhysiologyPlant ScienceBiologyBody sizeGeneral Biochemistry Genetics and Molecular BiologyStructural BiologyAgonistic behaviourmedicineAnimalsBody SizeAnimal communicationlcsh:QH301-705.5Ecology Evolution Behavior and SystematicsPrincipal Component AnalysisSex CharacteristicsCommunicationAgricultural and Biological Sciences(all)Biochemistry Genetics and Molecular Biology(all)Aggressionbusiness.industryAge FactorsCell BiologyDominant frequencyAnimal CommunicationSignallingAntelopeslcsh:Biology (General)Action (philosophy)DewlapLinear Modelsmedicine.symptomGeneral Agricultural and Biological SciencesbusinessAgonistic BehaviorResearch ArticleDevelopmental BiologyBiotechnologyBMC Biology
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Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients.

2013

We developed a new application of comparative multiplex dosage analysis (CMDA) for evaluation of the ataxin 2 gene. Expansions of the triplet CAG can cause spinocerebellar ataxia type 2 (SCA2), a neurodegenerative disease with an autosomal-dominant mode of inheritance. Molecular diagnosis of SCA2 is routinely based on the use of conventional PCR to detect the CAG expansion. However, PCR does not amplify an allele with an expansion of many triplets (>80), which is typically found in infantile and juvenile forms of SCA2, thus leading to false negatives. We propose the analysis of the ATXN2 gene by CMDA to complement existing methods currently used for the detection of large expansions of the …

Malecongenital hereditary and neonatal diseases and abnormalitiesGenotypeGene DosagePrenatal diagnosisNerve Tissue ProteinsDiseaseAtaxin 2 Spinocerebellar ataxia type 2 Quantitative PCR Autosomal dominant Prenatal diagnosisSettore BIO/13 - Biologia ApplicataGeneticsMedicineHumansSpinocerebellar AtaxiasMultiplexAlleleMolecular BiologyGeneAllelesGeneticsbusiness.industryGeneral Medicinemedicine.diseaseReal-time polymerase chain reactionAtaxinsAtaxinCase-Control StudiesSpinocerebellar ataxiaFemalebusinessTrinucleotide Repeat ExpansionMultiplex Polymerase Chain ReactionGenetics and molecular research : GMR
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Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family

1995

A 7-month-old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff-Parkinson-White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1-2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. "Idiopathic" hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unus…

Malemusculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtyDuchenne muscular dystrophyMolecular Sequence DataGene mutationPolymerase Chain ReactionMuscular DystrophiesGenomic ImprintingPrenatal DiagnosisInternal medicinemedicineHumansFamily historyCreatine KinaseGenetics (clinical)X-linked recessive inheritanceDNA PrimersGenes DominantMuscle biopsyBase Sequencebiologymedicine.diagnostic_testGenetic Carrier ScreeningInfantExonsmedicine.diseasePedigreeEndocrinologyMutationFailure to thrivebiology.proteinFemaleCreatine kinasemedicine.symptomDystrophinMetabolism Inborn ErrorsAmerican Journal of Medical Genetics
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Customer relationship management: The evolving role of customer data

2013

Purpose – Customer relationship management (CRM) developed a separate identity as a result of companies utilising customer data in managing customer relationships. In this evolution, CRM became a heavily company-oriented construct: customer data were used instrumentally to serve companies’ purposes. However, as companies increasingly shift attention from selling products to serving customers, traditional CRM activities, such as segmentation and cross-selling, may prove inappropriate owing to their inherent orientation towards selling more products to customers. The perspective on customer data usage needs to better address the strategic goal of serving customers. Consequently, the purpose …

MarketingCustomer delightVoice of the customerCustomer retentionService-dominant logicKnowledge managementbusiness.industryasiakkuudenhallintaSocial CRMuusi mediaCustomer advocacyCustomer equityAsiakkuuksien johtaminenasiakaskeskeisyysasiakastietoBusinesspalvelukeskeinen logiikkaCustomer dataCustomer centricityuusmediaMarketingCustomer intelligenceCustomer to customer
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Value co-creation among retailers and consumers: New insights into the furniture market

2010

Abstract This paper aims to examine the applicability of a value co-creation framework that integrates the process view (customer, supplier and encounter value-creating processes), the actors’ view (the value facilitator and the value co-creator) and the role of customer knowledge in furniture retail stores using service-dominant (S-D) logic. We conducted multiple case studies to analyse retailers’ points of view and in-depth interviews to explore customers’ perspectives. Our research findings suggest that the proposed model can be effectively used to analyse value co-creation management in furniture firms, allowing researchers to identify the actions of retailers and customers and evaluate…

MarketingCustomer knowledgeMatching (statistics)Process (engineering)FacilitatorValue (economics)Co-creationBusinessMarketingBusiness valueService-dominant logicJournal of Retailing and Consumer Services
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Greening the balanced scorecard

2010

Environmental management issues have received an increased amount of attention in recent years, as have various performance measurement systems (PMS) such as the balanced scorecard (BSC). However, implementation of these systems is challenging due to the differences found amongst the companies and users of PMS. This study investigates how the presence of particular supporting factors served to facilitate a PMS change that incorporated environmental measures. Utilization of extant change models enables us to investigate different change factors like advancing and hindering forces, momentum, and the leaders of change. We found two models appropriate for investigating environmental management …

MarketingDominant cultureBalanced scorecardProcess managementjohdon laskentatoimiOrganizational culturesisäinen laskentatoimiperformance measurementMomentum (finance)ympäristölaskentaExtant taxonsuoritusmittausOperations managementPerformance measurementympäristölaskentatoimiBusinessBusiness and International Management
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Value co-creation among hotels and disabled customers: An exploratory study

2014

This study examines how service supplier and buyer value co-creation influences buyers' attitudes toward service providers. Service-dominant logic is a prevalent concept in the services industry, providing an important marketing theory in which intangible resources, co-creation of value, and relationships are the keys to determining marketing exchanges. This research describes a model for analyzing value co-creation management in the hotel industry, focusing on the specific market segment of disabled customers. This framework helps foster value co-creation to increase the benefits for participants during each stage of their relationship. The paper also presents the managerial implications o…

MarketingValue theoryService (business)Market segmentationbusiness.industryValue (economics)Industria hoteleraBusinessService providerMarketingBusiness valueHospitality industryService-dominant logicJournal of Business Research
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Functional Differential and Difference Equations with Applications

2012

and Applied Analysis 3 solutions to a class of nonlocal boundary value problems for linear homogeneous secondorder functional differential equations with piecewise constant arguments are obtained. The last but not the least, this issue features a number of publications that report recent progress in the analysis of problems arising in various applications. In particular, dynamics of delayed neural network models consisting of two neurons with inertial coupling were studied, properties of a stochastic delay logistic model under regime switching were explored, and analysis of the permanence and extinction of a single species with contraception and feedback controls was conducted. Other applie…

MatematikClass (set theory)Article SubjectArtificial neural networkDifferential equationlcsh:MathematicsApplied MathematicsMathematical analysislcsh:QA1-939PiecewiseApplied mathematicsDifferential (infinitesimal)Constant (mathematics)Value (mathematics)MathematicsAnalysisMathematicsDiagonally dominant matrixAbstract and Applied Analysis
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Labyrinthine instability of miscible magnetic fluids

2002

Abstract We consider an inhomogeneous magnetic fluid (MF), modeling a miscible MF pair, in a Hele–Shaw cell under a normal field. A linear stability analysis for the sharp straight interface (analytically) and for the diffused one (numerically) is performed. For the former case, the neutral curves and the stability diagram are found along with the critical wavelength and parameter values. Oscillatory or monotonous instabilities are shown to occur. For the diffused interface, we recognize the importance of 2D flow viscous effects along with the conventional wall friction and observe that in strong fields the dominant wavelength scales as the cell gap.

Materials scienceDominant wavelengthFlow (psychology)Stability diagramMechanicsCondensed Matter PhysicsInstabilityElectronic Optical and Magnetic MaterialsPhysics::Fluid DynamicsNormal fieldWavelengthHele-Shaw flowClassical mechanicsLinear stability analysisJournal of Magnetism and Magnetic Materials
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