Search results for "genetics [Genetic Variation]"

showing 10 items of 3029 documents

Cardiac pacemaker function of HCN4 channels in mice is confined to embryonic development and requires cyclic AMP.

2008

Important targets for cAMP signalling in the heart are hyperpolarization-activated and cyclic nucleotide-gated (HCN) channels that underlie the depolarizing 'pacemaker' current, I(f). We studied the role of I(f) in mice, in which binding of cAMP to HCN4 channels was abolished by a single amino-acid exchange (R669Q). Homozygous HCN4(R669Q/R669Q) mice die during embryonic development. Prior to E12, homozygous and heterozygous embryos display reduced heart rates and show no or attenuated responses to catecholaminergic stimulation. Adult heterozygous mice display normal heart rates at rest and during exercise. However, following beta-adrenergic stimulation, hearts exhibit pauses and sino-atrial…

medicine.medical_specialtymedicine.medical_treatmentCyclic Nucleotide-Gated Cation ChannelsEmbryonic DevelopmentStimulationMice TransgenicBiologyIn Vitro TechniquesGeneral Biochemistry Genetics and Molecular BiologyCardiac pacemakerArticleMiceHeart RatePregnancyInternal medicineHeart ratemedicineCyclic AMPHyperpolarization-Activated Cyclic Nucleotide-Gated ChannelsAnimalsMyocytes CardiacMolecular BiologyIon channelCells CulturedCatecholaminergicGeneral Immunology and MicrobiologyGeneral NeuroscienceEmbryogenesisDepolarizationEmbryoHeartMice Inbred C57BLEndocrinologyMutationFemaleThe EMBO journal
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Improved femoral neck BMD in older Finnish women between 2002 and 2010.

2013

Abstract Purpose The number of hip fractures among Finns over 50-years of age rose constantly between 1970 and 1997, but since then, there has been a nationwide decline in incidence of hip fractures. One possible explanation, although not the only one, for the declining fracture rates, could be improved bone mineral density (BMD). The aim of this study was to evaluate differences in femoral neck BMD between older Finnish women born about a decade apart. Methods We compared the baseline data of two population-based samples of home-dwelling 70–80-year-old women who were initially recruited in exercise intervention studies ( N  = 216 in Cohort1, and N  = 389 in Cohort 2). Femoral neck BMD was …

medicine.medical_specialtymedicine.medical_treatmentOsteoporosisPopulationGeneral Biochemistry Genetics and Molecular BiologyCohort StudiesBone DensitymedicineHumanseducationFinlandOsteoporosis PostmenopausalFemoral neckAgedBone mineralAged 80 and overeducation.field_of_studyAnalysis of Variancebusiness.industryFemur NeckHip FracturesIncidence (epidemiology)IncidenceAge FactorsObstetrics and Gynecologyta3141Baseline datamedicine.diseaseBody Heightmedicine.anatomical_structureCohortPhysical therapyFemaleHormone therapybusinessDemographyMaturitas
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Managing Persistent Hypoxemia: what is new?

2017

Mechanical ventilation is the standard life-support technique for patients with severe acute respiratory failure. However, some patients develop persistent and refractory hypoxemia because their lungs are so severely damaged that they are unable to respond to the application of high inspired oxygen concentration and high levels of positive end-expiratory pressure. In this article, we review current knowledge on managing persistent hypoxemia in patients with injured lungs.

medicine.medical_specialtymedicine.medical_treatmentPhysiologyReviewmechanical ventilationGeneral Biochemistry Genetics and Molecular BiologyHypoxemia03 medical and health sciences0302 clinical medicineRefractorysevere acute respiratory failuremedicineAcute respiratory failureIn patientGeneral Pharmacology Toxicology and PharmaceuticsIntensive care medicineMechanical ventilationInspired oxygen concentrationhypoxemiaGeneral Immunology and Microbiologypersistent hypoxemiabusiness.industry030208 emergency & critical care medicineGeneral MedicineArticlesrespiratory tract diseases030228 respiratory systemRespiratory Problems in Critical Caremedicine.symptombusinessF1000Research
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Optimized culture conditions for tissue explants of uterine leiomyoma

2012

Background Uterine leiomyomas are the most common benign tumours in women, which arise from smooth muscle cells of the uterine myometrium and usually are multicentric. In spite of their frequency pathogenesis is widely unknown, mainly due to the absence of a suitable model system. We describe the systematic optimization of culturing leiomyoma tissue explants in an economical and effective ex vivo system. Methods Different concentrations of oxygen, different media, sera, hormones, and growth factor supplements were tested. Immunohistochemical stainings with antibodies against hormone receptors as well as specifying proliferation and apoptotic indices and real-time PCR were performed. Results…

medicine.medical_treatmentCulture Media; Epidermal Growth Factor; Estradiol; Female; Humans; Immunohistochemistry; Leiomyoma; Progesterone; RNA Messenger; Real-Time Polymerase Chain Reaction; Uterine NeoplasmsBiologyReal-Time Polymerase Chain ReactionGeneral Biochemistry Genetics and Molecular BiologyAndrologyTissue culturemedicineHumansRNA MessengerUterine NeoplasmProgesteroneUterine leiomyomaEpidermal Growth FactorEstradiolLeiomyomaGrowth factorMyometriummedicine.diseaseImmunohistochemistrySettore MED/40 - Ginecologia E OstetriciaCulture MediaLeiomyomaHormone receptorUterine NeoplasmsFemaleEx vivoHuman
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Effects of Th1 and Th2 cytokines on cytokine production and ICAM-1 expression on synovial fibroblasts

1995

OBJECTIVES--To investigate the influence of the Th1 and Th2 lymphokines interleukins (IL)-4 and IL-13, interferon gamma (IFN gamma), and several monokines on the adhesion of mononuclear cells to synovial fibroblasts and intercellular adhesion molecule-1 (ICAM-1) expression and cytokine production of synovial fibroblasts in patients with osteoarthritis. METHODS--Synovial fibroblasts were isolated from patients with osteoarthritis and stimulated with IL-1 beta, IL-4, IL-6, IL-10, IL-12, IL-13, tumour necrosis factor alpha (TNF alpha), and IFN gamma. Subsequently, we determined the production of IL-1 alpha, IL-1 beta, IL-6, IL-10, IL-12, IFN alpha and TNF alpha, and the expression of ICAM-1 ly…

medicine.medical_treatmentImmunologyIntercellular Adhesion Molecule-1BiologyGeneral Biochemistry Genetics and Molecular BiologyTh2 CellsRheumatologyOsteoarthritisCell AdhesionmedicineHumansImmunology and AllergyInterferon gammaCell adhesionCells CulturedInterleukin-13Interleukin-6Cell adhesion moleculeSynovial MembraneLymphokineReceptors InterleukinFibroblastsTh1 CellsIntercellular Adhesion Molecule-1Molecular biologyRecombinant ProteinsReceptors Interleukin-4Cytokinemedicine.anatomical_structureImmunologyCytokinesTumor necrosis factor alphaInterleukin-4Synovial membraneResearch Articlemedicine.drug
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Growth factors and cell kinetics: a mathematical model applied to Il-3 deprivation on leukemic cell lines.

1992

We assume the existence of a specific G1 protein which is an initiator of DNA replication. This initiator is supposed to be synthesized according to Michaelis-Menten kinetics. In order to start DNA replication, it is assumed that this G1 specific protein must be produced in a required amount. Intra-cellular growth inhibitors and extra-cellular growth factors control the production of the initiator. This model allows to calculate the average G1 phase time as a function of the various chemical concentrations of nutrients, enzymes, growth inhibitors and growth factors. This model is compared to cell kinetics experiments on a leukemic cell line responding to Interleukin 3 deprivation. The curve…

medicine.medical_treatmentKineticsBiologyModels BiologicalGeneral Biochemistry Genetics and Molecular BiologymedicineCells CulturedGeneral Environmental ScienceInterleukin 3chemistry.chemical_classificationLeukemia ExperimentalApplied MathematicsGrowth factorDNA replicationG1 PhaseGeneral MedicineDNACell cyclePhilosophyKineticsEnzymeCytokineBiochemistrychemistryCell cultureBiophysicsInterleukin-3General Agricultural and Biological SciencesActa biotheoretica
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EMAS position statement: Predictors of premature and early natural menopause.

2019

Simoncini, Tommaso/0000-0002-2971-0079; Chung, Hsin-Fang/0000-0003-3261-5942; Mishra, Gita/0000-0001-9610-5904 WOS:000468709100014 PubMed ID: 31027683 Introduction: While the associations of genetic, reproductive and environmental factors with the timing of natural menopause have been extensively investigated, few epidemiological studies have specifically examined their association with premature (< 40 years) or early natural menopause (40-45 years). Aim: The aim of this position statement is to provide evidence on the predictors of premature and early natural menopause, as well as recommendations for the management of premature and early menopause and future research. Materials and methods…

medicine.medical_treatmentMenopause PrematureTwinsPremature ovarian insufficiencyOVARIAN DEVELOPMENT0302 clinical medicine3123 Gynaecology and paediatricsPregnancyRisk FactorsEpidemiology030212 general & internal medicineFamily historyAetiology030219 obstetrics & reproductive medicineObstetricsEstrogen Replacement TherapySmokingObstetrics and Gynecology3. Good healthEarly menopauseMenopauseParityMenarcheFemaleUnderweightmedicine.symptomMenopausemedicine.medical_specialtyPremature ovarian insufficiencyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAGEThinnessmedicineHumansPrematureMenarchePregnancyLIFE-COURSEbusiness.industryREPRODUCTIVE PERIODBody Weightmedicine.diseaseCOGNITIVE FUNCTIONBIRTH-WEIGHTAetiology; Early menopause; Premature ovarian insufficiency; Risk factors; Body Weight; Estrogen Replacement Therapy; Female; Humans; Menarche; Pregnancy; Risk Factors; Smoking; Thinness; Twins; Menopause; Menopause Premature; ParityBODY-MASS INDEXRisk factorsRISK-FACTORSHormone therapyCIGARETTE-SMOKINGbusinessSOCIOECONOMIC POSITIONMaturitas
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Frequency of polymorphisms of signal peptide of TGF-beta1 and -1082G/A SNP at the promoter region of Il-10 gene in patients with carotid stenosis

2006

The role of inflammation in atherosclerosis is well recognized. We have evaluated the allele frequencies of the +869T/C and +915G/C polymorphisms (SNPs) at the TGF-beta1 gene and -1082G/A SNP at IL-10 promoter sequence, two well-known immunosuppressive and anti-inflammatory cytokines, in patients with carotid stenosis. Our data suggest a lack of association between these SNPs and the susceptibility to atherosclerosis although other reports have demonstrated this association. These results may be due to the pleiotropic effects of the cytokines and/or differences in haplotype combination that should be investigated to elucidate the role of TGF-beta1 and IL-10 polymorphisms in atherosclerosis.

medicine.medical_treatmentSNPSingle-nucleotide polymorphismInflammationProtein Sorting SignalsBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyTransforming Growth Factor beta1atherosclerosiHistory and Philosophy of ScienceGene FrequencyPolymorphism (computer science)Transforming Growth Factor betacytokineMedicineSNPHumansCarotid StenosisPromoter Regions GeneticAllele frequencyAgedAged 80 and overPolymorphism Geneticbusiness.industryGeneral NeuroscienceHaplotypePromoterSequence Analysis DNAMiddle AgedInterleukin-10carotid stenosiCytokineImmunologyIL-10medicine.symptombusinessTGF-beta 1
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Effects of 24 h Compression Interventions with Different Garments on Recovery Markers during Running

2021

Compression and temperature manipulation are discussed as strategies to improve performance markers and recovery in sports. Here, we investigate the effects of compression stockings made with fabric, either combined or not with heating and cooling substances, on variables related to running performance and recovery. Ten trained runners (mean ± standard deviation age 45 ± 9 years old, body mass 69 ± 7 kg, height 166 ± 4 cm) with no experience of using compression garments performed an intense running session of 10 km, then wore a stocking for 24 h (randomized

medicine.medical_treatmentScienceCompression stockingsmentholArticleGeneral Biochemistry Genetics and Molecular BiologyStandard deviationcamphorcompressive garmentHeart rateMedicineEcology Evolution Behavior and SystematicsEsportsskin temperatureExercise recoverybusiness.industryMean valueQexercise recoveryPaleontologySkin temperatureCompression (physics)Space and Planetary SciencekinematicsAnesthesiaEducació físicabusinessLife
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Characterization of the Adjuvant Effect of IL-12 and Efficacy of IL-12 Inhibitors in Type II Collagen-Induced Arthritis

1996

A destructive joint disease can be induced in susceptible DBA/1 mice by immunization with type II collagen emulsified with oil and either killed Mycobacterium tuberculosis or IL-12 as adjuvant. Cellular and humoral anti-collagen immune mechanisms appear to be involved in the pathogenesis of arthritis. We have characterized the adjuvant effect or IL-12 in more detail and addressed the question whether mycobacteria might act via the induction of endogenous IL-12. Injections of IL-12 into collagen-immunized DBA/1 mice promoted the development of IFN-gamma-producing CD4+ T cells and strongly upregulated the production of complement-fixing IgG2a and IgG2b antibodies resulting in severe arthritis…

medicine.medical_treatmentType II collagenArthritisGeneral Biochemistry Genetics and Molecular BiologyAutoimmune DiseasesInterferon-gammaMiceAdjuvants ImmunologicHistory and Philosophy of ScienceIn vivoImmunitymedicineAnimalsInterferon gammaImmunity CellularbiologyChemistryArthritisGeneral Neurosciencemedicine.diseaseInterleukin-12Mice Inbred C57BLMice Inbred DBAAntibody FormationImmunologyInterleukin 12biology.proteinCollagenAntibodyAdjuvantSpleenmedicine.drugAnnals of the New York Academy of Sciences
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