Search results for "pathways"

showing 10 items of 644 documents

A novel DFNB1 deletion allele supports the existence of a distant cis-regulatory region that controls GJB2 and GJB6 expression

2010

Contains fulltext : 87760_1.pdf (author's version ) (Open Access) Contains fulltext : 87760_2.pdf (Publisher’s version ) (Closed access) Eleven affected members of a large German-American family segregating recessively inherited, congenital, non-syndromic sensorineural hearing loss (SNHL) were found to be homozygous for the common 35delG mutation of GJB2, the gene encoding the gap junction protein Connexin 26. Surprisingly, four additional family members with bilateral profound SNHL carried only a single 35delG mutation. Previously, we demonstrated reduced expression of both GJB2 and GJB6 mRNA from the allele carried in trans with that bearing the 35delG mutation in these four persons. Usin…

MaleGenetics and epigenetic pathways of disease [NCMLS 6][SDV]Life Sciences [q-bio]PenetranceMESH: Base SequenceRegulatory Sequences Nucleic Acidsensorineural hearing lossConnexinsMESH: GenotypeMESH: Hearing Loss Sensorineural/diagnosisMESH: PenetranceGenotypeCopy-number variationGenetics (clinical)Sequence DeletionGeneticsComparative Genomic Hybridization0303 health sciencesMESH: Genetic TestingMESH: Gene Expression Regulation*030305 genetics & heredityPenetranceGJB2PedigreeConnexin 26MESH: Sequence Deletion*MESH: Hearing Loss Sensorineural/geneticsFemaleChromosome DeletionFunctional Neurogenomics [DCN 2]GJB6GenotypeMESH: PedigreeMESH: Chromosome DeletionHearing Loss SensorineuralMolecular Sequence Dataconnexin 26connexin 30DFNB1gene expression regulationGJB2GJB6sensorineural hearing losssequence deletionBiologyMESH: Connexin 30MESH: Connexins/genetics*MESH: Sequence Homology Nucleic AcidArticleGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesMonoallelic MutationGJB6MESH: Connexin 26Sequence Homology Nucleic AcidConnexin 30otorhinolaryngologic diseasesGeneticsHumansGenetic TestingAlleleGeneMESH: Regulatory Sequences Nucleic Acid/genetics*AllelesDFNB1030304 developmental biologyFamily HealthMESH: HumansMESH: Molecular Sequence DataBase SequenceChromosomes Human Pair 13MESH: AllelesBreakpointMESH: MaleMESH: Comparative Genomic HybridizationGene Expression RegulationMESH: Family Healthbiology.proteinHuman medicineMESH: Chromosomes Human Pair 13/geneticsMESH: FemaleClinical Genetics
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Genotyping of sex hormone-related pathways in benign and malignant human prostate tissues: data of a preliminary study.

2011

Prostate cancer (PCa) is a major health issue in Westernized countries, representing a common cause of morbidity and mortality in the elderly male population. Endogenous sex steroids, along with environmental factors (notably diet) and host immune and inflammatory responses, are likely to cooperate in the pathogenesis of the disease. Based on the assumption that a complex endocrine–inflammatory-immune interaction is primarily implicated in human PCa, we have investigated the interplay between sex steroids and inflammation in development and growth of human PCa. To this end, we have assessed nine functional single nucleotide polymorphisms (SNP)s of five genes involved in sex hormone-related …

MaleGenotypeProstatic HyperplasiaSingle-nucleotide polymorphismDiseaseBioinformaticsBiochemistryPolymorphism Single NucleotideCohort StudiesProstate cancerSex hormone-binding globulinAromataseprostate cancer sex hormone related pathways3-Oxo-5-alpha-Steroid 4-DehydrogenaseGene FrequencyGeneticsmedicineSNPHumansMolecular BiologyAllele frequencyGenotypingSicilyGenetic Association StudiesAgedSettore MED/04 - Patologia GeneraleAged 80 and overbiologyCase-control studyMembrane ProteinsProstatic NeoplasmsSequence Analysis DNAMiddle Agedmedicine.diseaseReceptors EstrogenReceptors AndrogenCase-Control StudiesImmunologybiology.proteinMolecular MedicineBiotechnologyOmics : a journal of integrative biology
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The Mediating Role of Psychological Distress in Excessive Gambling among Young People: A Four-Country Study

2021

Background and aims: Loneliness and a low sense of mastery are associated with excessive gambling, but the underlying processes of these relationships remain unstudied. Because psychological distress can increase vulnerability to excessive gambling, we investigated its mediating role in these relationships among young people. To meet the need for cross-country research, we also observed how these relationships occur in four countries with different cultures. Design, setting, and participants: Demographically balanced cross-sectional survey data were collected from 15–25-year-olds in Finland (n = 1200

MaleHealth Toxicology and MutagenesisVulnerability030508 substance abuse0302 clinical medicinenuoretpsychological distressadolescentsYoung adultFinlandRLonelinessapplied_psychology3142 Public health care science environmental and occupational healthPREVALENCEADDICTIONyksinäisyysScale (social sciences)5141 SociologyGAMBLERSMedicineFemaleHEALTHmedicine.symptom0305 other medical sciencePsychologyClinical psychologyAdultyoung adultsAdolescent515 PsychologyArticleYoung Adult03 medical and health sciencessense of masteryRepublic of KorearahapelitlonelinessmedicineHumansVALIDITYAssociation (psychology)nuoret aikuisethenkinen pahoinvointiPublic Health Environmental and Occupational HealthelämänhallintaPATHWAYSPsychological distressongelmapelaaminen030227 psychiatryCross-Sectional StudiesSpainGamblingexcessive gamblingSurvey data collectionSCREENGeneral Health QuestionnaireInternational Journal of Environmental Research and Public Health
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Nucleus incertus contribution to hippocampal theta rhythm generation.

2006

The hippocampal theta rhythm is generated by the pacemaker activity of the medial septum-diagonal band of Broca (MS/DBB) neurons. These nuclei are influenced by brainstem structures that modulate the theta rhythm. The aim of the present work is to determine whether the nucleus incertus (NI), which has important anatomical connections with the MS/DBB, contributes to the hippocampal theta rhythm generation in rats. Hippocampal field activity was recorded in urethane-anaesthetized rats. Electrical stimulation of the NI not only evoked theta rhythm in the hippocampus, but also decreased the amplitude of delta waves. Unit recordings in the NI revealed either a non-rhythm discharge pattern in mos…

MaleHippocampusStimulationHippocampal formationDiagonal Band of BrocaHippocampuschemistry.chemical_compoundRhythmMesencephalonNeural PathwaysmedicineAnimalsRats WistarTheta RhythmBrain MappingGeneral NeuroscienceNucleus IncertusDiagonal band of BrocaElectric StimulationRatsmedicine.anatomical_structurenervous systemMuscimolchemistryFemaleSeptum of BrainNeuroscienceNucleusMicroelectrodesThe European journal of neuroscience
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Efferent connections of the "olfactostriatum": a specialized vomeronasal structure within the basal ganglia of snakes.

2005

Abstract The olfactostriatum is a portion of the basal ganglia of snakes that receives substantial vomeronasal afferents through projections from the nucleus sphericus. In a preceding article, the olfactostriatum of garter snakes (Thamnophis sirtalis) was characterized on the basis of chemoarchitecture (distribution of serotonin, neuropeptide Y and tyrosine hydroxylase) and pattern of afferent connections [Martinez-Marcos, A., Ubeda-Banon, I., Lanuza, E., Halpern, M., 2005. Chemoarchitecture and afferent connections of the “olfactostriatum”: a specialized vomeronasal structure within the basal ganglia of snakes. J. Chem. Neuroanat. 29, 49–69]. In the present study, its efferent connections …

MaleHypoglossal nucleusHypothalamus PosteriorBiotinBiologyNucleus accumbensAmygdalaEfferent PathwaysBasal GangliaNucleus AccumbensVentral pallidumCellular and Molecular NeuroscienceBasal gangliamedicineAnimalsRhodaminesColubridaeDextransAnatomyOlfactory PathwaysAmygdalaVentral tegmental areaSmellStria terminalismedicine.anatomical_structureFemaleFluoresceinVomeronasal OrganRaphe nucleiNeuroscienceJournal of chemical neuroanatomy
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IL-4 protects tumor cells from anti-CD95 and chemotherapeutic agents via up-regulation of antiapoptotic proteins

2004

Abstract We recently proposed that Th1 and Th2 cytokines exert opposite effects on the pathogenesis and clinical outcome of organ-specific autoimmunity by altering the expression of genes involved in target cell survival. Because a Th2 response against tumors is associated with poor prognosis, we investigated the ability of IL-4 to protect tumor cells from death receptor- and chemotherapy-induced apoptosis. We found that IL-4 treatment significantly reduced CD95 (Fas/APO-1)- and chemotherapeutic drug-induced apoptosis in prostate, breast, and bladder tumor cell lines. Analysis of antiapoptotic protein expression revealed that IL-4 stimulation resulted in up-regulation of cellular (c) FLIP/F…

MaleINFILTRATING LYMPHOCYTESCell SurvivalImmunologyCASP8 and FADD-Like Apoptosis Regulating Proteinbcl-X ProteinAntineoplastic AgentsApoptosisBreast NeoplasmsCARCINOMA-CELLSBiologySIGNALING PATHWAYSDownregulation and upregulationCell Line TumorImmunology and AllergyHumansfas ReceptorNON-HODGKINS-LYMPHOMACANCER PATIENTSReceptorBCL-2 PROTEINInterleukin 4EtoposideIL-4 apoptosis cancer stem cellsSettore MED/04 - Patologia GeneraleCHRONIC LYMPHOCYTIC-LEUKEMIAIntracellular Signaling Peptides and ProteinsAntibodies MonoclonalProstatic NeoplasmsFas receptorRecombinant ProteinsCell biologyUp-RegulationProto-Oncogene Proteins c-bcl-2ApoptosisCell cultureFlipCancer researchT-CELLSCamptothecinFemaleInterleukin-4FLICE-INHIBITORY PROTEINSignal transductionCarrier ProteinsRENAL-CELL
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Evidence for increased nitric oxide production in the auditory brain stem of the aged dwarf hamster (Phodopus sungorus): an NADPH-diaphorase histoche…

2000

Age-related changes of the auditory system such as presbyacusis are believed to be due, at least in part, to alterations of central structures. The superior olivary complex (SOC), a group of interrelated brain stem nuclei, projects to a variety of neuronal structures including the cochlea and the inferior colliculus (IC). The soluble gas nitric oxide (NO), believed to function as a neuroactive substance within the SOC and cochlea, is thought to be involved in ageing processes. Since it is unknown whether NO-production is altered in the ageing auditory system, the present study was conducted to investigate whether the number of NO-producing cells in the SOC is changed with increasing age. Th…

MaleInferior colliculusAgingmedicine.medical_specialtyAuditory PathwaysPhodopusOlivary NucleusBiologyNitric OxideCricetinaeInternal medicineotorhinolaryngologic diseasesmedicineAnimalsAuditory systemTrapezoid bodyTissue DistributionCochleaNeuronsHistocytochemistryIntermediolateral nucleusNADPH Dehydrogenasebiology.organism_classificationPhodopusEndocrinologymedicine.anatomical_structureSpinal CordSuperior olivary complexFemalesense organsNeuronBrain StemDevelopmental BiologyMechanisms of Ageing and Development
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Projection Neurons in the Superior Olivary Complex of the Rat Auditory Brainstem: A Double Retrograde Tracing Study

1998

The superior olivary complex (SOC), a group of interrelated brainstem nuclei, sends efferents to a variety of neuronal structures including the cochlea and the inferior colliculus (IC). In the present study conducted in rats, we sought to investigate whether single SOC efferent neurons project to both cochlea and IC. These neurons were identified by retrograde axonal transport of the neuronal tracers fluoro-gold upon application to the cochlea and cholera toxin B subunit injected into the central nucleus of the IC. Projections to the cochlea were found to stem predominantly from the ipsilateral lateral superior olive (LSO) and medial superior olive (MSO) as well as from the bilateral superi…

MaleInferior colliculusCholera ToxinAuditory PathwaysOlivary NucleusBiologyRats Sprague-DawleyBinaural fusionNeurons Efferentotorhinolaryngologic diseasesmedicineAnimalsTrapezoid bodyCochleaAnatomyRetrograde tracingInferior ColliculiRatsmedicine.anatomical_structurenervous systemOtorhinolaryngologySuperior olivary complexsense organsNeuronBrainstemBrain StemORL
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Information decomposition of multichannel EMG to map functional interactions in the distributed motor system

2019

AbstractThe central nervous system needs to coordinate multiple muscles during postural control. Functional coordination is established through the neural circuitry that interconnects different muscles. Here we used multivariate information decomposition of multichannel EMG acquired from 14 healthy participants during postural tasks to investigate the neural interactions between muscles. A set of information measures were estimated from an instantaneous linear regression model and a time-lagged VAR model fitted to the EMG envelopes of 36 muscles. We used network analysis to quantify the structure of functional interactions between muscles and compared them across experimental conditions. Co…

MaleInformation transferMuscle networkNeurologyTransfer entropyComputer scienceSocial SciencesPostural controlFunctional connectivity0302 clinical medicineCONNECTIVITYNeural PathwaysDecomposition (computer science)Medicine and Health Sciencesmotor controlMuscle activityPostural Balance0303 health sciencesMuscle networksConditional mutual information05 social sciencesmedicine.anatomical_structureNeurologySYNCHRONIZATIONFemaleSpinal reflexAdultCORTEXmedicine.medical_specialtyCognitive NeurosciencePostureCentral nervous systemORGANIZATIONCognitive neuroscienceGRANGER CAUSALITY050105 experimental psychology03 medical and health sciencesReflexMotor systemCOHERENCEBiological neural networkmedicineHumans0501 psychology and cognitive sciencesMuscle SkeletalSet (psychology)signal processing030304 developmental biologyIDENTIFICATIONElectromyographyPostural controlMotor controlINPUTSMUSCLE SYNERGIESBRAIN NETWORKSSettore ING-INF/06 - Bioingegneria Elettronica E InformaticaNeuroscience030217 neurology & neurosurgery
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Cue valence representation studied by Fos immunocytochemistry after acquisition of a discrimination learning task.

2003

The piriform cortex (PCx) and related structures such as hippocampus and frontal cortex could play an important role in olfactory memory. We investigated their involvement in learning the biological value of an odor cue, i.e. predicting reward or non-reward in a two-odor discrimination task. Rats were sacrificed after stimulation by either rewarded or non-rewarded odor and Fos immunocytochemistry was performed. The different experimental groups of rats did not show strongly differentiated Fos expression pattern in either the PCx or the hippocampus. A few differences were noted in frontal areas. In the ventro-lateral orbital cortex, rats, ramdomly rewarded during the conditionning had a high…

MaleInfralimbic cortexStimulationCell CountHippocampusDiscrimination LearningPiriform cortexmedicineAnimalsDiscrimination learningValence (psychology)Olfactory memoryRats WistarMaze LearningCerebral CortexNeuronsBehavior AnimalGeneral NeuroscienceOlfactory PathwaysImmunohistochemistryRatsSmellmedicine.anatomical_structureOdorGene Expression RegulationConditioning OperantOlfactory LearningCuesPsychologyNeuroscienceProto-Oncogene Proteins c-fospsychological phenomena and processesBrain research bulletin
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