Search results for "Association."

showing 10 items of 1723 documents

DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB

2020

Abstract DCTN1 encodes the largest subunit of dynactin complex essential in the retrograde axonal transport and cytoplasmic transport of vesicles; mutations in DCTN1 have been reported predominantly in individuals with Perry syndrome and, recently, in patients with progressive supranuclear palsy. Our genetic screening of DCTN1 in 79 patients with progressive supranuclear palsy, 100 patients with multiple system atrophy, and 28 patients with dementia with Lewy bodies from Italy revealed only synonymous and intronic variants, suggesting that DCTN1 mutations do not have a key role in the development of atypical parkinsonism in the Italian population.

Lewy Body DiseaseMale0301 basic medicineAgingPathologymedicine.medical_specialtyDementia with Lewy bodieDNA Mutational AnalysisDynactinProgressive supranuclear palsy03 medical and health sciences0302 clinical medicineAtrophymedicineHumansIn patientGenetic TestingGenetic Association StudiesAgedDCTN1Dementia with Lewy bodiesbusiness.industryProgressive supranuclear palsyGeneral NeuroscienceParkinson DiseaseDynactin ComplexMiddle AgedMultiple System Atrophymedicine.diseaseDCTN1030104 developmental biologyItalyMutation testingDynactinAxoplasmic transportDCTN1; Dementia with Lewy bodies; Dynactin; Multiple system atrophy; Progressive supranuclear palsyFemaleSupranuclear Palsy ProgressiveNeurology (clinical)Geriatrics and GerontologybusinessNegative Results030217 neurology & neurosurgeryDevelopmental BiologyNeurobiology of Aging
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Latvijas Bibliotekāru biedrība un profesionālie pieredzes apmaiņas pasākumi kopš darbības atjaunošanas

2019

Pētījuma “Latvijas Bibliotekāru biedrība un profesionālie pieredzes apmaiņas pasākumi kopš darbības atjaunošanas” mērķis ir izpētīt LBB organizētos profesionālos pieredzes apmaiņas pasākumus, to tematiku un apmeklētību laika posmā no darbības atjaunošanas 1989. gadā līdz 2018. gadam, jo plaši pieejamā apkopojošā informācija ir nepietiekama. Bakalaura darbs izstrādāts, pētot mācīšanās, sociālo tīklu un tās atzara – sociālā kapitāla – teorijas, analizējot iepriekš veiktus tematiski saistītus pētījumus un veicot LBB pārstāvju intervijas, arhīva dokumentu un nozares publikāciju analīzi un LBB pasākuma apmeklētāju anketēšanu, kā rezultātā apkopoti un analizēti LBB un tās reģionālo nodaļu un tema…

Library Association of Latviaprofessional activitiesBibliotēkzinātneLatvijas Bibliotekāru biedrībapieredzes apmaiņas pasākumiprofesionālie pasākumi
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Latvijas Bibliotekāru biedrība: vēsturiskie notikumi un jaunāko gadu norises

2022

Maģistra darba mērķis ir izpētīt ar Latvijas Bibliotekāru biedrību (LBB) un tās valdi saistītus vēsturiskos notikumus, to veidus un pārmaiņu tendences laika posmā no LBB dibināšanas 1923. gadā līdz 2014. gadam un izstrādāt biedrības notikumu hronoloģiju, kā arī pētīt viedokļus par LBB jaunāko gadu (2014.–2021. gada) norisēm, jo līdz šim informācija bijusi pieejama tikai izkliedētā vai daļēji apkopotā veidā. Pētījums izstrādāts, pētot vēsturiskos un sociālos procesus skaidrojošas teorijas (vēsturiskuma metateorija un sociālās apmaiņas teorija), veicot arhīva dokumentu, rakstu periodikā un citu publikāciju analīzi un ekspertu – LBB valdes locekļu un biedru – anketēšanu. Darba rezultātā apkopo…

Library Association of Latviavēsturiskie notikumihistorical eventsKomunikācijas zinātneLatvijas Bibliotekāru biedrībajaunāko gadu norises
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Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

2014

Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10 '21), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10 '10), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10 '8) and two independent SNPs, rs13255292 and rs47336…

LimfomesGenotypeChronic lymphocytic leukemiaCèl·lules BQuantitative Trait LociPopulationFollicular lymphomaGenome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleWhite PeopleGeneticsGenetic predispositionmedicineHumansGenetic Predisposition to DiseaseeducationGenetic associationGeneticsLikelihood Functionseducation.field_of_studyB cellsChromosome MappingComputational Biologymedicine.diseaseGenetic Locilarge B cell lymphoma (DLBCL)LymphomasLymphoma Large B-Cell DiffuseDiffuse large B-cell lymphomaGenome-Wide Association Study
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Free Word Associations Correspond to Contiguities Between Words in Texts*

2005

A free associative response is the first word a person comes up with after perceiving another word, the so-called associative stimulus. People commonly associate hot to cold, church to priest, and hard to work. According to traditional association theory this behaviour is the result of learning by contiguity: “Objects once experienced together tend to become associated in the imagination, so that when any one of them is thought of, the others are likely to be thought of also, in the same order of sequence or coexistence as before” (James, 1890). This explanation has been rejected by cognitive psychologists who explain the production of associations as the result of symbolic processes which …

Linguistics and LanguageAssociation theoryCognitionStimulus (physiology)PsychologyLanguage and LinguisticsLinguisticsAssociative propertyAssociative learningCognitive psychologyJournal of Quantitative Linguistics
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What can synaesthesia tell us about our minds?

2014

Synaesthesia is considered here as a cognitive phenomenon in the context of developmental, neuropathological and linguistic perspectives. Developmental synaesthesia seems to arise as an effect of interplay between genotype and phenotype, during the implicit learning process in childhood, in those individuals who possess an inborn susceptibility to it. Some connections between synaesthesia and extraordinary experiences, brain restructuration and pain, are examined. Acquired types of synaesthesia may be related to sensory deprivation. The somatosensory cortex may be significant for cognitive synaesthesia, with especial importance placed on a mirror system. It is suggested here that synaesthes…

Linguistics and LanguageCognitive NeuroscienceCommunicationCognitionContext (language use)Language and LinguisticsImplicit learningPerceptual systemSensory deprivationAssociation (psychology)PsychologyPiaget's theory of cognitive developmentMirror neuronCognitive psychologyTheoria et Historia Scientiarum
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Conflict management in massive polylogues: A case study from YouTube

2014

Abstract The aim of this paper is to examine how conflict begins, unfolds and ends in a massive, new media polylogue, specifically, a YouTube polylogue. Extant research has looked into how conflict begins, unfolds and/or ends. However, to our knowledge, the models and taxonomies developed so far have not been applied to the analysis of the mediated conflict of massive polylogues. Drawing on the difference between methods of analysis that are natively digital versus those that have been digitized, i.e., they were developed for off-line research and then migrated on-line, one of the goals of this paper is to test whether non-natively digital, extant models and taxonomies, if digitized, would …

Linguistics and Languagemedia_common.quotation_subjectAssociation (object-oriented programming)Data scienceLanguage and LinguisticsNew mediaTest (assessment)Artificial IntelligenceConflict managementPublic serviceHomosexualitySociologyAffordanceSocial identity theorySocial psychologymedia_commonJournal of Pragmatics
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Effects of finding the speech-language pathologist likeable on postlaryngectomy speech intelligibility outcomes

2021

<b><i>Introduction:</i></b> Speech-language pathologists (SLPs) work with patients after total laryngectomy (TL) to regain verbal communication. The influence of the quality of the therapeutic relationship on the success of TL voice rehabilitation in terms of speech intelligibility is not known. Finding each other likeable is an important factor in establishing and maintaining interpersonal relationships in everyday life. The fit of therapist and client is relevant to the therapeutic relationship. The purpose of this study therefore was to assess the association between the degree of SLPs’ likeability ratings and postlaryngectomy speech intelligibility. <b><…

Linguistics and Languagemedicine.medical_specialtySpeech-Language Pathologymedicine.medical_treatmentLaryngectomyalliedhealthAudiologyIntelligibility (communication)Language and LinguisticsSpeech and HearingNonverbal communicationInterpersonal relationshipmedicineHumansSpeechProspective StudiesAssociation (psychology)RehabilitationSpeech IntelligibilityLPN and LVNprimarycarePathologistsLaryngectomyTherapeutic relationshipCommunication DisordersCohortPsychology
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Accounting for haplotype phase uncertainty in linkage disequilibrium estimation

2007

The characterization of linkage disequilibrium (LD) is applied in a variety of studies including the identification of molecular determinants of the local recombination rate, the migration and population history of populations, and the role of positive selection in adaptation. LD suffers from the phase uncertainty of the haplotypes used in its calculation, which reflects limitations of the algorithms used for haplotype estimation. We introduce a LD calculation method, which deals with phase uncertainty by weighting all possible haplotype pairs according to their estimated probabilities as evaluated by PHASE. In contrast to the expectation-maximization (EM) algorithm as implemented in the HA…

Linkage disequilibriumGenotypeEpidemiologyPopulationValidation Studies as TopicPolymorphism Single NucleotideLinkage DisequilibriumGene FrequencyExpectation–maximization algorithmHumansComputer SimulationeducationGenetics (clinical)Genetic associationMathematicsGeneticseducation.field_of_studyModels GeneticHaplotypeComputational BiologyContrast (statistics)WeightingHaplotypesHaplotype estimationAlgorithmSoftwareGenetic Epidemiology
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Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility

2013

In the last four years, Genome-Wide Association Studies (GWAS) have identified sixteen low-penetrance polymorphisms on fourteen different loci associated with colorectal cancer (CRC). Due to the low risks conferred by known common variants, most of the 35% broad-sense heritability estimated by twin studies remains unexplained. Recently our group performed a case-control study for eight Single Nucleotide Polymorphisms (SNPs) in 4 CRC genes. The present investigation is a followup of that study. We have genotyped six SNPs that showed a positive association and carried out a meta-analysis based on eight additional studies comprising in total more than 8000 cases and 6000 controls. The estimate…

Linkage disequilibriumGenotypeReparació de l'ADNlcsh:MedicineDNA repairGenome-wide association studySingle-nucleotide polymorphismBiologyGenetic polymorphismsDNA Mismatch RepairPolymorphism Single NucleotideDNA Glycosylases03 medical and health sciences0302 clinical medicineMUTYHCàncer colorectalHumansGenetic Predisposition to Diseaselcsh:ScienceGenetic Association Studies030304 developmental biologyGenetic associationGenetics0303 health sciencesMultidisciplinaryGenetic heterogeneityPolimorfisme genèticlcsh:RCase-control studyOdds ratioColorectal cancer3. Good health030220 oncology & carcinogenesisCase-Control Studieslcsh:QColorectal NeoplasmsResearch Article
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