Search results for "Polymorphism"

showing 10 items of 1968 documents

Hemostasis and ageing

2008

Abstract On March 19, 2008 a Symposium on Pathophysiology of Ageing and Age-Related Diseases was held in Palermo, Italy. The lecture of D. Mari on Hemostasis and ageing is summarized herein. Physiological ageing is associated with increased plasma levels of many proteins of blood coagulation together with fibrinolysis impairment. This may be of great concern in view of the known association between vascular and thromboembolic diseases and ageing. On the other hand, centenarians are characterized by a state of hypercoagulability and possession of several high-risk alleles and well-known atherothrombotic risk markers but this appears to be compatible with longevity and/or health. Parameters c…

lcsh:Immunologic diseases. AllergyAginggene polymorphismmedia_common.quotation_subjectmedicine.medical_treatmentImmunologyShort Reportlcsh:GeriatricsBioinformaticsFibrinolysisSettore MED/05 - Patologia ClinicaMedicinemedia_commonbusiness.industryGeriatrics gerontologyLongevityPlasma levelsHemostasilcsh:RC952-954.6ageingAgeingBiological significanceHemostasisImmunologylcsh:RC581-607businessImmunity & Ageing
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Genetics of longevity. Data from the studies on Sicilian centenarians

2012

Abstract The demographic and social changes of the past decades have determined improvements in public health and longevity. So, the number of centenarians is increasing as a worldwide phenomenon. Scientists have focused their attention on centenarians as optimal model to address the biological mechanisms of "successful and unsuccessful ageing". They are equipped to reach the extreme limits of human life span and, most importantly, to show relatively good health, being able to perform their routine daily life and to escape fatal age-related diseases, such as cardiovascular diseases and cancer. Thus, particular attention has been centered on their genetic background and immune system. In thi…

lcsh:Immunologic diseases. AllergyEpigenomicsGerontologyAgingmedicine.medical_specialtyFuture studiesImmune system Genetics Pro/anti-inflammatory polymorphisms Epigenomicsmedia_common.quotation_subjectImmunologylcsh:GeriatricsBiologyGeneticsmedicineSettore MED/05 - Patologia ClinicaEpigeneticsInflammatory genesmedia_commonEpigenomicsResearchPublic healthLongevityAgeinglcsh:RC952-954.6Immune systemAgeingPro/anti-inflammatory polymorphismsLife expectancylcsh:RC581-607Immunity & Ageing
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cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel

2020

Abstract Background Resistance to enteric pathogens is a complex trait at the crossroads of multiple biological processes. We have previously shown in the Drosophila Genetic Reference Panel (DGRP) that resistance to infection is highly heritable, but our understanding of how the effects of genetic variants affect different molecular mechanisms to determine gut immunocompetence is still limited. Results To address this, we perform a systems genetics analysis of the gut transcriptomes from 38 DGRP lines that were orally infected with Pseudomonas entomophila. We identify a large number of condition-specific, expression quantitative trait loci (local-eQTLs) with infection-specific ones located …

lcsh:QH426-470Quantitative Trait Locimotifsallele-specific expressionPolymorphism Single Nucleotidecomplex traitsgenerationPseudomonasAnimalsDrosophila ProteinsRegulatory Elements Transcriptionallcsh:QH301-705.5AllelesBinding SitesResearchF-Box ProteinsassociationForkhead Transcription FactorsGastrointestinal Tractlcsh:GeneticsDrosophila melanogasterlcsh:Biology (General)dissectionresponsesFemaleTranscriptomerevealsdiscoveryGenome Biology
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Indications of polymorphism in the behaviour and morphology of burbot (Lota lota) in a European lake

2022

AbstractIn this study, polymorphism in behaviour, morphology, and stable isotope signatures of burbot from Lake Southern Konnevesi, Finland, Europe, was examined. First, local knowledge was collected on exceptional polymorphism of the spawning behaviour and morphology of burbot. These phenomena were then studied based on catch samples. Interviews and catch sample analyses suggested two morphs of burbot: one morph spawning in late February in the littoral zone and other in late March, in deep profundal, depths of about 30 m. Fish caught from the profundal zone had higher average proportional somatic body weights and wider heads than those caught from the littoral spawning sites in February. …

lisääntymiskäyttäytyminenkutupaikatAquatic Sciencebehaviourpolymorphismkutulocal knowledgemorfologiaspawning timemonimuotoisuusmorphometricmademuuntelu (biologia)spawning siteHydrobiologia
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Dopamine Related Genes Differentially Affect Declarative Long-Term Memory in Healthy Humans

2020

In humans, monetary reward can promote behavioral performance including response times, accuracy, and subsequent recognition memory. Recent studies have shown that the dopaminergic system plays an essential role here, but the link to interindividual differences remains unclear. To further investigate this issue, we focused on previously described polymorphisms of genes affecting dopaminergic neurotransmission: DAT1 40 base pair (bp), DAT1 30 bp, DRD4 48 bp, and cannabinoid receptor type 1 (CNR1). Specifically, 669 healthy humans participated in a delayed recognition memory paradigm on two consecutive days. On the first day, male vs. female faces served as cues predicting an immediate moneta…

long-term memory ; motivation ; polymorphism ; reward ; dopamineCognitive NeuroscienceBiologyAffect (psychology)lcsh:RC321-571polymorphism03 medical and health sciencesBehavioral Neurosciencelong-term memory0302 clinical medicinemotivationDopamineNeuromodulationmedicineAllelelcsh:Neurosciences. Biological psychiatry. NeuropsychiatryrewardOriginal Research030304 developmental biologyRecognition memory0303 health sciencesRecallLong-term memoryDopaminergicNeuropsychology and Physiological Psychologymedicine.anatomical_structuredopamineNeuroscience030217 neurology & neurosurgerymedicine.drugFrontiers in Behavioral Neuroscience
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Association between genetic variations in the insulin/insulin-like growth factor (Igf-1) signaling pathway and longevity: a systematic review and met…

2013

Some studies have shown that polymorphisms in the insulin growth factor-1 (IGF-1) signaling pathway genes could influence human longevity. However, the results of different studies are often inconsistent. Our aim was to investigate by systematic review and meta-analysis the association of the common polymorphisms defining the genetic variability of the IGF-1 signaling pathway associated with human longevity. Eleven studies investigating the association between the polymorphisms in the IGF-1 signaling pathway genes (IGF-1, IGF-1 receptor (IGF-1R), Forkhead box O3A (FOXO3A) and Silent mating type Information Regulation 1 (SIRT1) and longevity were found and analyzed. The modelfree approach wa…

media_common.quotation_subjectLongevitySingle-nucleotide polymorphismBiologyBioinformaticsPolymorphism Single NucleotideIGF-1 Signaling PathwayPolymorphism (computer science)Meta-analysis IGF-1 LongevityGenotypeHumansInsulinGenetic variabilityAlleleInsulin-Like Growth Factor Imedia_commonSettore MED/04 - Patologia GeneralePharmacologyGeneticsAged 80 and overForkhead Box Protein O3Case-control studyLongevityGenetic VariationForkhead Transcription FactorsCase-Control StudiesCardiology and Cardiovascular MedicineSignal TransductionCurrent vascular pharmacology
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Analysis of DRD2 Gene Polymorphism in the Context of Personality Traits in a Group of Athletes

2021

The presented study showed the relationship between dopamine receptor gene polymorphism and personality traits in athletes training in martial arts. Behavioral modulation resulting from a balance of the neurotransmitters dopamine and norepinephrine to inactivation of the dorsolateral prefrontal cortex and dysregulation of various pathways involved in attention and impulse control processes

media_common.quotation_subjectQH426-470ArticleReward systemDorsolateral Prefrontal CortexmedicineHumansPsychological testinggeneticsGenetics (clinical)media_commonPsychological TestsMartial artsPolymorphism GeneticbiologyAthletesReceptors Dopamine D2AddictionDopaminergicmedicine.diseasebiology.organism_classificationD2 receptorathletesReward dependencepersonality traitsHarm avoidancedopaminePsychologyClinical psychologyPersonalityGenes
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Data from: Temporal relationship between genetic and warning signal variation in the aposematic wood tiger moth (Parasemia plantaginis)

2014

Many plants and animals advertise unpalatability through warning signals in the form of colour and shape. Variation in warning signals within local populations is not expected because they are subject to directional selection. However, mounting evidence of warning signal variation within local populations suggests that other selective forces may be acting. Moreover, different selective pressures may act on the individual components of a warning signal. At present, we have a limited understanding about how multiple selection processes operate simultaneously on warning signal components, and even less about their temporal and spatial dynamics. Here, we examined temporal variation of several w…

medicine and health care2009-2011UV-signalingcolour polymorphismFluctuating PopulationsLife SciencesMedicineParasemia plantaginisMelanization
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Data from: Morphological vs. molecular delineation of taxa across montane regions in Europe: the case study of Gammarus balcanicus Schäferna, 1922 (C…

2015

Mountainous areas are characterized by substantial biodiversity and endemicity due to their complex geological history and habitat fragmentation. Hence, it can be assumed that particularly high species richness can be found in organisms with limited dispersal capabilities that inhabit mountain streams. A number of scientific papers focus on molecular phylogeography or traditional taxonomy of species or species groups inhabiting such habitats. However, there is a lack of studies that integrate morphological and molecular data to identify and delineate cryptic species. For practical reasons, uncovering cryptic diversity is crucial in taxa used in biomonitoring. Distinct species, hard to separ…

medicine and health careGammarus balcanicusCrustaceamorphological polymorphismMedicinespecies-diagnostic morphological featureAmphipodaLife sciences
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Data from: Trans-oceanic genomic divergence of Atlantic cod ecotypes is associated with large inversions

2017

Chromosomal rearrangements such as inversions can play a crucial role in maintaining polymorphism underlying complex traits and contribute to the process of speciation. In Atlantic cod (Gadus morhua), inversions of several megabases have been identified that dominate genomic differentiation between migratory and non-migratory ecotypes in the Northeast Atlantic. Here, we show that the same genomic regions display elevated divergence and contribute to ecotype divergence in the Northwest Atlantic as well. The occurrence of these inversions on both sides of the Atlantic Ocean reveals a common evolutionary origin, predating the more than 100,000 years old trans-Atlantic separation of Atlantic co…

medicine and health careGenomic adaptationInversion polymorphismLife SciencesMedicineChromosomal rearrangementecological divergenceSNPs
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