Search results for "Disposition"

showing 10 items of 832 documents

The Aromatase Gene CYP19A1: Several Genetic and Functional Lines of Evidence Supporting a Role in Reading, Speech and Language

2012

Inspired by the localization, on 15q21.2 of the CYP19A1 gene in the linkage region of speech and language disorders, and a rare translocation in a dyslexic individual that was brought to our attention, we conducted a series of studies on the properties of CYP19A1 as a candidate gene for dyslexia and related conditions. The aromatase enzyme is a member of the cytochrome P450 super family, and it serves several key functions: it catalyzes the conversion of androgens into estrogens; during early mammalian development it controls the differentiation of specific brain areas (e.g. local estrogen synthesis in the hippocampus regulates synaptic plasticity and axonal growth); it is involved in sexua…

MaleCandidate geneSLIEstrogen synthesisTranslocation GeneticDyslexiaCohort StudiesMice0302 clinical medicineGenetics(clinical)Receptors ImmunologicAromatasePromoter Regions GeneticGenetics (clinical)Original ResearchQuantitative trait analysisMice KnockoutGeneticsRegulation of gene expression0303 health sciencesbiologyBrainNuclear ProteinsHuman brainmedicine.anatomical_structureTranslocation breakpointFemaleendocrine systemmedicine.drug_classQuantitative Trait LociNerve Tissue ProteinsPolymorphism Single NucleotideSpeech Disorders03 medical and health sciencesAromataseROBO1GeneticsmedicineAnimalsHumansGenetic Predisposition to DiseaseRNA MessengerEcology Evolution Behavior and SystematicsSSD030304 developmental biologyLanguage DisordersAromatase inhibitorCategorical trait associationDyslexiamedicine.diseaseCytoskeletal ProteinsGene Expression RegulationSynaptic plasticitybiology.protein030217 neurology & neurosurgeryBehavior Genetics
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Role of polymorphisms of CC-chemokine receptor-5 gene in acute myocardial infarction and biological implications for longevity

2008

A key component of atherosclerosis is inflammation. So, genes encoding inflammatory or antiinflammatory molecules are good candidates for the risk of cardiovascular diseases (CVD), as acute myocardial infarction (AMI). In this study we demonstrated that genetic variations in CCR5 gene affect atherosclerosis and risk of AMI, hence consenting the attainment of longevity.

MaleChemokineReceptors CCR5media_common.quotation_subjectLongevityMyocardial InfarctionInfarctionInflammationRisk FactorsmedicineHumansGenetic Predisposition to DiseaseMyocardial infarctionReceptorSicilyAllelesAgedmedia_commonAged 80 and overInflammationSettore MED/04 - Patologia Generalebiologybusiness.industryLongevityHematologyAtherosclerosismedicine.diseasePathophysiologyCardiovascular DiseasesImmunologybiology.proteinFemaleinfarction longevity CCR5medicine.symptomCC chemokine receptorsbusinessHaematologica
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Analysis of the C9orf72 gene in patients with amyotrophic lateral sclerosis in Spain and different populations worldwide.

2013

The C9ORF72 Spanish Study Group, et al.

MaleChinaHeterozygoteDNA Mutational AnalysisChromosome 9Kaplan-Meier EstimateBiologyPolymorphism Single NucleotideAsian PeopleGene FrequencyJapanC9orf72GeneticsmedicineEthnicityHumansGenetic Predisposition to DiseaseFamily historyAlleleAmyotrophic lateral sclerosisGenetics (clinical)AgedGeneticsAged 80 and overDNA Repeat ExpansionC9orf72 ProteinHaplotypeAmyotrophic Lateral SclerosisProteinsmedicine.diseaseEuropeHaplotypesSpainAfricaMutationFemaleTrinucleotide repeat expansionFrontotemporal dementia
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Clinicopathological profile of gastrointestinal tuberculosis: a multinational ID-IRI study

2020

Data are relatively scarce on gastro-intestinal tuberculosis (GITB). Most studies are old and from single centers, or did not include immunosuppressed patients. Thus, we aimed to determine the clinical, radiological, and laboratory profiles of GITB. We included adults with proven GITB treated between 2000 and 2018. Patients were enrolled from 21 referral centers in 8 countries (Belgium, Egypt, France, Italy, Kazakhstan, Saudi Arabia, UK, and Turkey). One hundred four patients were included. Terminal ileum (n = 46, 44.2%), small intestines except terminal ileum (n = 36, 34.6%), colon (n = 29, 27.8%), stomach (n = 6, 5.7%), and perianal (one patient) were the sites of GITB. One-third of all p…

MaleCirrhosismedicine.medical_treatmentretrospective studylaparoscopyColonoscopymultimodal imagingComorbidityGastroenterologyprotionamide0302 clinical medicineLaparotomyAscitesamikacinMedicinebedaquilinePathologie maladies infectieusesintestine biopsyadultsteroidclinical trialGeneral MedicinerifabutinMicrobiologie et protistologie [entomologiephytoparasitolog.]priority journaldiabetes mellitushistopathologybiological productMicrobiology (medical)Microbiologie et protistologie [parasitologie hum. et anim.]medicine.medical_specialtyTuberculosis030106 microbiologymalignant neoplasmArticle03 medical and health scienceslaparotomyHuman immunodeficiency virus infectionmolecular diagnosisHumansTuberculosisGastro-intestinalhumanRetrospective Studiescolondisease predispositionmicrobiologyTuberculosis; Immune-suppression; Gastro-intestinal; Endoscopy;anusmedicine.diseasemajor clinical studymulticenter studyaminosalicylic acidcyclophosphamide0301 basic medicineBiopsyAntitubercular Agentsethambutolrifampicinterminal ileumcolonoscopyofloxacin030212 general & internal medicineLaparoscopyazathioprinemedicine.diagnostic_testIncidence (epidemiology)gastrointestinal tuberculosisDisease Managementchronic kidney failurecycloserineInfectious DiseasesfemaleTreatment OutcomeMolecular Diagnostic Techniquesdiagnostic testDisease Susceptibilitymedicine.symptommoxifloxacinSymptom AssessmentImmune-suppressionstomachisoniazidpyrazinamidestreptomycinliver cirrhosispatient referrallinezolidInternal medicineBiopsybusiness.industryEndoscopyMycobacterium tuberculosishuman tissueclinical featureTreatmentTuberculosis Gastrointestinaltuberculostatic agentbusinessMicrobiologie et protistologie [bacteriol.virolog.mycolog.]
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Brain responses to changes in speech sound durations differ between infants with and without familial risk for dyslexia

2002

A specific learning disability, developmental dyslexia, is a language-based disorder that is shown to be strongly familial. Therefore, infants born to families with a history of the disorder are at an elevated risk for the disorder. However, little is known of the potential early markers of dyslexia. Here we report differences between 6-month-old infants with and without high risk of familial dyslexia in brain electrical activation generated by changes in the temporal structure of speech sounds, a critical cueing feature in speech. We measured event-related brain responses to consonant duration changes embedded in ata pseudowords applying an oddball paradigm, in which pseudoword tokens with…

MaleConsonantDyslexiaBrainInfantElectroencephalographyStimulus (physiology)medicine.diseaseDevelopmental psychologyDyslexiaPseudowordLanguage developmentNeuropsychology and Physiological PsychologyAcoustic StimulationCommunication disorderEvoked Potentials AuditorySpeech PerceptionDevelopmental and Educational PsychologymedicineHumansFemaleGenetic Predisposition to DiseaseLanguage disorderPsychologyOddball paradigm
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Psychomotor reactions of aggressive and non-aggressive extrovert children.

1974

.— The subjects comprised two, matched, extremely aggressive (experimental ExG and control) groups of twelve 8–year-old boys, and one criterion group of extrovert, well-controlled boys. The ExG was submitted to a treatment of eight lesson? with the aim of making an individual realize non-aggressive, constructive ways of coping with situations. Video-tape recording was used. The results showed that (1) aggressively extrovert children were more impulsive and utilized more space than the constructively extrovert, (2) psychomotor characteristics were more stable over situations than aggressive and constructive coping strategies, and (3) no changes in the psychomotor characteristics of the ExG, …

MaleCoping (psychology)Poison controlMotor ActivityConstructiveDevelopmental psychologyExtraversion PsychologicalArts and Humanities (miscellaneous)Injury preventionDevelopmental and Educational PsychologymedicineHumansChildRole PlayingGeneral PsychologyPsychomotor learningExtraversion and introversionAggressionVerbal BehaviorGeneral MedicineDispositionAggressionImpulsive Behaviormedicine.symptomPsychologySocial psychologyPersonalityScandinavian journal of psychology
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Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

2012

MaleDNA Copy Number VariationsGenotypeChromosomes Human Pair 20MEDLINEReceptors NicotinicBiologyText miningKCNQ2 Potassium ChannelGenotypeGeneticsmedicineHumansKCNQ2 Potassium ChannelGenetic Predisposition to DiseaseAutistic DisorderChildGenetics (clinical)GeneticsComparative Genomic Hybridizationbusiness.industrymedicine.diseaseAutismChromosome DeletionbusinessComparative genomic hybridizationAmerican Journal of Medical Genetics Part A
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Mild Aerobic Exercise Training Hardly Affects the Diaphragm of mdx Mice

2016

In the mdx mice model of Duchenne Muscular Dystrophy (DMD), mild endurance exercise training positively affected limb skeletal muscles, whereas few and controversial data exist on the effects of training on the diaphragm. The diaphragm was examined in mdx (C57BL/10ScSn-Dmdmdx) and wild-type (WT, C57BL/10ScSc) mice under sedentary conditions (mdx-SD, WT-SD) and during mild exercise training (mdx-EX, WT-EX). At baseline, and after 30 and 45 days (training: 5 d/wk for 6 weeks), diaphragm muscle morphology and Cx39 protein were assessed. In addition, tissue levels of the chaperonins Hsp60 and Hsp70 and the p65 subunit of nuclear factor-kB (NF-kB) were measured in diaphragm, gastrocnemius, and q…

MaleDuchenne muscular dystrophychaperoninTime FactorsDiaphragmSettore MED/10 - Malattie Dell'Apparato RespiratorioSettore BIO/09 - FisiologiaConnexinsMitochondrial ProteinsNecrosisendurance trainingAnimalsGenetic Predisposition to DiseaseHSP70 Heat-Shock Proteinsstress markersMuscle StrengthNF-kBSettore BIO/16 - Anatomia UmanaTranscription Factor RelAChaperonin 60Settore CHIM/06 - Chimica OrganicaExercise TherapyMuscular Dystrophy DuchenneDisease Models AnimalPhenotypeMice Inbred mdxPhysical Endurance
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A human leucocyte antigen-DR1 transgene confers susceptibility to experimental allergic encephalomyelitis elicited by an epitope of myelin basic prot…

2003

Much evidence now indicates that human leucocyte antigen (HLA) class I and class II transgenic (Tg) mice can be of value in analysing HLA-restricted presentation of T-cell epitopes relevant to experimental models of autoimmune diseases. One area where this has been applied is the characterization of myelin epitopes presented by HLA class II molecules in experimental model of multiple sclerosis (experimental allergic encephalomyelitis (EAE)). As a first step towards humanized disease models in HLA Tg mice, we have analysed immune response of lymph node cells of HLA-DR1 Tg mice immunized with the human myelin basic protein (MBP) peptides 13–33, 87–106 and 139–154 bound by HLA-DR1. We report h…

MaleEncephalomyelitis Autoimmune ExperimentalMultiple SclerosisEncephalomyelitisTransgeneImmunologyMolecular Sequence DataEpitopes T-LymphocyteMice TransgenicHuman leukocyte antigenEpitopeMyelinMiceImmune systemmedicineAnimalsHumansGenetic Predisposition to DiseaseAmino Acid SequencebiologyHLA-DR1 AntigenMyelin Basic ProteinGeneral Medicinemedicine.diseaseIn vitroPeptide FragmentsMyelin basic proteinDisease Models Animalmedicine.anatomical_structureImmunologybiology.proteinFemaleLymph NodesScandinavian journal of immunology
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Heterogeneity of the Stearoyl-CoA desaturase-1 (SCD1) Gene and Metabolic Risk Factors in the EPIC-Potsdam Study

2012

Background: Stearoyl-CoA desaturase-1 (SCD1) is an enzyme involved in lipid metabolism. In mice and humans its activity has been associated with traits of the metabolic syndrome, but also with the prevention of saturated fatty acids accumulation and subsequent inflammation, whereas for liver fat content inconsistent results have been reported. Thus, variants of the gene encoding SCD1 (SCD1) could potentially modify metabolic risk factors, but few human studies have addressed this question. Methods: In a sample of 2157 middle-aged men and women randomly drawn from the Potsdam cohort of the European Prospective Investigation into Cancer and Nutrition, we investigated the impact of 7 SCD1 tagg…

MaleEpidemiologyPopulationlcsh:Medicine610Single-nucleotide polymorphismBiologyPolymorphism Single NucleotideBiochemistryCohort StudiesGenetic HeterogeneityMiceRisk FactorsGermanyNeoplasmsGenotypemedicineGeneticsAnimalsHumansGenetic Predisposition to Diseaselcsh:ScienceeducationBiologyGenetic Association StudiesCardiovascular Disease EpidemiologyAgedGeneticseducation.field_of_studyMultidisciplinaryGenetic heterogeneitylcsh:RHaplotypeHuman GeneticsMiddle Agedmedicine.diseaseEuropean Prospective Investigation into Cancer and NutritionEnzymesMinor allele frequencyHaplotypesGenetic EpidemiologyGenetic PolymorphismMedicinelcsh:QFemaleMetabolic syndromeStearoyl-CoA DesaturasePopulation GeneticsResearch Article
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