Search results for "polymorph"

showing 10 items of 2115 documents

Relation Between Genetic Factors and Frailty in Older Adults.

2018

Frailty is a geriatric syndrome that identifies individuals at higher risk of disability, institutionalization, and death. We previously reported that frailty is related to oxidative stress and cognitive impairment-related biomarkers. The aim of this study was to determine whether frailty is associated with genetic variants.Longitudinal population-based cohort of 2488 community-dwelling people from Toledo, Spain, aged 65 years or older.We obtained blood samples from 78 individuals with frailty and 74 nonfrail individuals who were nonfrail (according to Fried criteria) from the Toledo Study of Healthy Ageing and extracted DNA using the Chemagic DNA blood kit.Sample genotyping was carried out…

GerontologyMaleAgingFrail ElderlyPopulationEnergy metabolismSingle-nucleotide polymorphismPolymorphism Single NucleotideCohort Studies03 medical and health sciences0302 clinical medicineMedicineHumansCognitive DysfunctionDisabled Persons030212 general & internal medicineeducationGenotypingExomeGeriatric AssessmentGeneral NursingGenetic Association StudiesAgedAged 80 and overeducation.field_of_studybusiness.industryHealth PolicyGenetic variantsCognitionGeneral MedicineSpainCohortFemaleGeriatrics and Gerontologybusiness030217 neurology & neurosurgeryJournal of the American Medical Directors Association
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Role of prothrombotic polymorphisms in successful or unsuccessful aging.

2011

The study of the genetic profile of centenarians aims to identify the genes and allelic variants which may influence a greater life expectancy and that can be considered as predisposing factors associated to the aging diseases, such as Alzheimer. Centenarians, that represent a cohort of selected survivors, show an hypercoagulability state characterised by striking signs of high coagulation enzyme activity, as directly assessed by the tested higher plasma level of some important factors involved in the haemostasis balance. Anyway, these individuals seem to have a reduced susceptibility to dementia, as well as to cardiovascular events. In this study we analyze the frequencies of Leiden Factor…

GerontologyMaleAging.media_common.quotation_subjectDiseaseBioinformaticsLeiden factor V; Prothrombin; Nonagenarians; Alzheimer disease; Aging.Polymorphism (computer science)Alzheimer DiseasemedicineDementiaHumansNonagenarianAlleleAllelesmedia_commonAgedSettore MED/04 - Patologia GeneralePolymorphism GeneticSuccessful agingbusiness.industryALZHEIMER’S DISEASEagingLongevityFactor Vmedicine.diseaseCase-Control StudiesCohortFemaleProthrombinGeriatrics and GerontologyAlzheimer's diseasebusinessGerontologyLeiden Factor V
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Flavobacterium columnare colony types: connection to adhesion and virulence?

2008

Four different colony morphologies were produced by Flavobacterium columnare strains on Shieh agar plate cultures: rhizoid and flat (type 1), non-rhizoid and hard (type 2), round and soft (type 3), and irregularly shaped and soft (type 4). Colonies produced on AO agar differed from these to some extent. The colony types formed on Shieh agar were studied according to molecular characteristics [Amplified Fragment Length Polymorphism (AFLP), Automated Ribosomal Intergenic Spacer Analysis (ARISA), and whole cell protein SDS-PAGE profiles], virulence on rainbow trout fingerlings, and adhesion on polystyrene and fish gills. There were no molecular differences between colony types within one strai…

Gillsfood.ingredientRibosomal Intergenic Spacer analysisVirulenceBiologyMicrobiologyFlavobacteriumVirulence factorBacterial AdhesionMicrobiologyAgar plateFish DiseasesfoodBacterial ProteinsFlavobacteriaceae InfectionsDNA Ribosomal SpacerAgarAnimalsPhase variationVirulencebiology.organism_classificationCulture MediaAgarInfectious DiseasesOncorhynchus mykissFlavobacterium columnarePolystyrenesElectrophoresis Polyacrylamide GelFlavobacteriumPolymorphism Restriction Fragment LengthMicrobial pathogenesis
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Molecular community and population studies of arbuscular mycorrhizal fungi (Glomeromycota)

2014

The arbuscular mycorrhizal symbiosis, which appeared at the same time as land plants, 460 million years ago, is a mutualistic beneficial association between most land plants, including those cultivated, and arbuscular mycorrhizal fungi (AMF). AMF, from the Glomeromycota phylum, are widespread soil microorganisms needing a photosynthetic host to complete their life cycle (obligate symbionts). The great potential of plant mineral nutrition improvement and crop production increased during this symbiosis, make AMF an asset in the context of an increase in the demand of world food crop production. The control of that symbiosis by ecology engineering in order to improve ecosystem services, especi…

Gloméromycètes[SDV.SA] Life Sciences [q-bio]/Agricultural sciencesHigh-throughput sequencingCultural practicesPopulationPopulationsCommunityPolymorphisme de longueur de fragments de restrictionSéquençage haut-débitSymbiose mycorhizienneRhizophagus irregularisArbuscular mycorrhizaPratiques culturalesGlomeromycotaRestriction fragment length polymorphismCommunauté
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Genetic polymorphisms and gustatory perception of dietary lipids in the obese subjects

2017

Obesity has become one of most important public health issue in this century. A number of genetic and environmental factors contribute to development of this pathology. Daily dietary intake is also one of the crucial factors. Excessive dietary fat intake has been shown to be critical in the development of obesity. In the last two decades, several studies have shown that oral fat sensing plays an important role in the development of obesity. To prove a relationship between obesity, oral fat sensing and genetic polymorphisms, we recruited children, adolescents and adult subjects from three different populations. To date, CD36 gene encodes the most promising fat taste receptor. Furthermore, we…

Goût gras[SDV.MHEP] Life Sciences [q-bio]/Human health and pathologyPolymorphisme génétiqueObesityObésitéCd36Genetic polymorphismsFat taste
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Polymorphism in the immunoglobulin-like domains of the receptor tyrosine kinase from the sponge Geodia cydonium.

1996

Sponges [Porifera] are the phylogenetically oldest phylum of the Metazoa. They are provided with both cellular and humoral allorecognition systems. The underlying molecules are not yet known. To study allorecognition in sponges we first determined the frequency of graft rejection in a natural population of the marine sponge Geodia cydonium. We then determined, for the first time at the molecular level, the degree of sequence polymorphism in segments of one molecule which may be related to sponge allorecognition and host defense: the Ig-like domains from the receptor tyrosine kinase [RTK]. Thirty six pairs of auto- and allografts were assayed, either by parabiotic attachment or insertion of …

Graft RejectionDNA ComplementaryGeodia cydoniumMolecular Sequence DataImmunoglobulinsPolymerase Chain ReactionReceptor tyrosine kinaseMolecular levelSequence Homology Nucleic AcidAnimalsGeodiaAmino Acid SequenceAllorecognitionGene LibraryPolymorphism GeneticGraft rejectionbiologyBase SequenceSequence Homology Amino AcidReceptor Protein-Tyrosine KinasesGeneral MedicineAnatomySequence Analysis DNAbiology.organism_classificationCell biologyPoriferaSpongesurgical procedures operativebiology.proteinAntibodyCell adhesion and communication
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Pharmacogenetic considerations for optimizing tacrolimus dosing in liver and kidney transplant patients

2013

The introduction of tacrolimus in clinical practice has improved patient survival after organ transplant. However, despite the long use of tacrolimus in clinical practice, the best way to use this agent is still a matter of intense debate. The start of the genomic era has generated new research areas, such as pharmacogenetics, which studies the variability of drug response in relation to the genetic factors involved in the processes responsible for the pharmacokinetics and/or the action mechanism of a drug in the body. This variability seems to be correlated with the presence of genetic polymorphisms. Genotyping is an attractive option especially for the initiation of the dosing of tacrolim…

Graft Rejectionmedicine.medical_specialtyCYP3A5ATP Binding Cassette Transporter Subfamily BCYP3A4Genotypemedicine.medical_treatmentPharmacologyLiver transplantationBioinformaticsOrgan transplantationTacrolimusCalcineurin inhibitorMedicineCytochrome P-450 CYP3AHumansDrug Dosage CalculationsDosingATP Binding Cassette Transporter Subfamily B Member 1Topic HighlightKidney transplantLiver transplantKidney transplantationBiotransformationPolymorphism Geneticbusiness.industryPharmacogeneticGraft SurvivalGastroenterologyABCB1General Medicinemedicine.diseaseKidney TransplantationTacrolimusLiver TransplantationSingle nucleotide polymorphismTransplantationsurgical procedures operativePhenotypeTreatment OutcomePharmacogeneticsTacrolimuSettore BIO/14 - FarmacologiaPersonalized medicinebusinessPharmacogeneticsImmunosuppressive Agents
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Comparing RADseq and microsatellites for estimating genetic diversity and relatedness : Implications for brown trout conservation

2019

The conservation and management of endangered species requires information on their genetic diversity, relatedness and population structure. The main genetic markers applied for these questions are microsatellites and single nucleotide polymorphisms (SNPs), the latter of which remain the more resource demanding approach in most cases. Here, we compare the performance of two approaches, SNPs obtained by restriction-site-associated DNA sequencing (RADseq) and 16 DNA microsatellite loci, for estimating genetic diversity, relatedness and genetic differentiation of three, small, geographically close wild brown trout (Salmo trutta) populations and a regionally used hatchery strain. The genetic di…

HETEROZYGOSITY-FITNESS CORRELATIONSSINGLE NUCLEOTIDE POLYMORPHISMCROSS-SPECIES AMPLIFICATIONINBREEDING DEPRESSIONrelatednessLINKAGE DISEQUILIBRIUMDNA-analyysiddRADseqEFFECTIVE POPULATION-SIZER-PACKAGEpopulation geneticsgeneettinen monimuotoisuuskalanviljelytaimenHABITAT FRAGMENTATIONpopulaatiogenetiikkaATLANTIC SALMONfisheriessalmonids1181 Ecology evolutionary biologySALMON SALMO-SALAR
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The Odd Sibling: Features ofβ3-Adrenoceptor Pharmacology

2014

beta(3)-Adrenoceptor agonists have recently been introduced for the treatment of overactive urinary bladder syndrome. Their target, the beta(3)-adrenoceptor, was discovered much later than beta(1)- and beta(2)-adrenoceptors and exhibits unique properties which make extrapolation of findings from the other two subtypes difficult and the beta(3)-adrenoceptor a less-understood subtype. This article discusses three aspects of beta(3)-adrenoceptor pharmacology. First, the ligand-recognition profile of beta(3)-adrenoceptors differs considerably from that of the other two subtypes, i.e., many antagonists considered as nonselective actually are beta(3)-sparing, including propranolol or nadolol. Man…

HUMAN BETA-3-ADRENERGIC RECEPTORDOWN-REGULATIONCell typemedicine.medical_specialtyADRENERGIC-RECEPTORMOUSE BETA(3)-ADRENOCEPTORAdrenergic receptormedicine.medical_treatmentSIGNAL-TRANSDUCTIONAdrenergic beta-3 Receptor AgonistsPropranololPharmacologyBiologyLigandsDownregulation and upregulationInternal medicinemedicineAnimalsHumansMOLECULAR CHARACTERIZATIONReceptorBETA-ADRENOCEPTOR AGONISTSDesensitization (medicine)PharmacologyMessenger RNABinding SitesPolymorphism GeneticOVERACTIVE BLADDEREndocrinologyGene Expression RegulationReceptors Adrenergic beta-3Molecular MedicineAdrenergic beta-3 Receptor AntagonistsSignal transductionURINARY-BLADDERMESSENGER-RNAmedicine.drugMolecular Pharmacology
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De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Heart Defects CongenitalMalemedicine.medical_specialtyCandidate geneLimb Deformities CongenitalTracheoesophageal fistulaSingle-nucleotide polymorphismContext (language use)Chromosome DisordersEphrin-B2BiologyGastroenterologyAnus ImperforateMiceEsophagusInternal medicineGeneticsmedicineAnimalsHumansIn patientGenetics (clinical)Mice KnockoutChromosomes Human Pair 13Infant NewbornChromosomeAnatomymedicine.diseaseAnorectal MalformationsSpineTracheaDisease Models AnimalRadiusHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]AtresiaChild PreschoolMutationMutation testingFemaleChromosome DeletionGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]American Journal of Medical Genetics. Part A
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