Search results for "GENETICS"

showing 10 items of 12494 documents

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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Hemocyanin in mollusks--a molecular survey and new data on hemocyanin genes in Solenogastres and Caudofoveata.

2008

The most common respiratory protein of mollusks is the blue, copper-containing hemocyanin (van Holde and Miller, 1995). It is not bound to hemocytes but suspended in the hemolymph. Its molecular mass ranges from 3500 10 to 8000 10 Da (dalton) or even more (Herskovits, 1988). These differences in molecular weight are due to the fact that the basic decamers that constitute the barrel-shaped protein may aggregate to didecamers or multidecameric elongated particles (Herskovits, 1988). In cephalopods and chitons (Polyplacophora), there are exclusively decamers, whereas in protobranch bivalves and gastropods the predominantly observed aggregation state is didecamers (Herskovits, 1988; van Holde a…

medicine.medical_treatmentMolecular Sequence DataCaudofoveataEvolution MolecularPolyplacophoraHemolymphGeneticsmedicineAnimalsRNA MessengerMolecular BiologyMolluscaEcology Evolution Behavior and SystematicsPhylogenyExpressed Sequence TagsbiologyHemocyaninSequence Analysis DNAbiology.organism_classificationCephalopodSolenogastresRespiratory proteinEvolutionary biologyMolluscaHemocyaninsSequence AlignmentMolecular phylogenetics and evolution
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Review of Pharmacokinetics and Pharmacogenetics in Atypical Long-Acting Injectable Antipsychotics

2021

Over the last two decades, pharmacogenetics and pharmacokinetics have been increasingly used in clinical practice in Psychiatry due to the high variability regarding response and side effects of antipsychotic drugs. Specifically, long-acting injectable (LAI) antipsychotics have different pharmacokinetic profile than oral formulations due to their sustained release characteristics. In addition, most of these drugs are metabolized by CYP2D6, whose interindividual genetic variability results in different metabolizer status and, consequently, into different plasma concentrations of the drugs. In this context, there is consistent evidence which supports the use of therapeutic drug monitoring (TD…

medicine.medical_treatmentPopulationAripiprazolePharmaceutical ScienceContext (language use)ReviewPharmacology030226 pharmacology & pharmacy03 medical and health sciences0302 clinical medicinearipiprazolePharmacy and materia medicamedicineAntipsychoticsPaliperidoneeducationAntipsychoticPopulation pharmacokinetic modelspharmacogeneticseducation.field_of_studyRisperidonerisperidonemedicine.diagnostic_testbusiness.industryCYP2D6PaliperidoneRisperidoneLAIRS1-441antipsychoticsTherapeutic drug monitoringpopulation pharmacokinetic modelsPharmacogeneticsAripiprazolebusinesspaliperidone030217 neurology & neurosurgeryPharmacogeneticsmedicine.drug
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Absence of the lactase-persistence-associated allele in early Neolithic Europeans.

2007

Lactase persistence (LP), the dominant Mendelian trait conferring the ability to digest the milk sugar lactose in adults, has risen to high frequency in central and northern Europeans in the last 20,000 years. This trait is likely to have conferred a selective advantage in individuals who consume appreciable amounts of unfermented milk. Some have argued for the “culture-historical hypothesis,” whereby LP alleles were rare until the advent of dairying early in the Neolithic but then rose rapidly in frequency under natural selection. Others favor the “reverse cause hypothesis,” whereby dairying was adopted in populations with preadaptive high LP allele frequencies. Analysis based on the cons…

medicine.medical_treatmentPopulationLactoseBiologyDNA MitochondrialPolymorphism Single NucleotideBone and BonesWhite PeopleNOLactose IntolerancemedicineHumansAlleleeducationSelectionAllele frequencyAllelesHistory AncientLactaseGeneticseducation.field_of_studyMultidisciplinaryNatural selectionAncient DNAHaplotypeLactaseEmigration and ImmigrationBiological SciencesAncient DNA Dairying SelectionEuropeDairyingLactase persistenceAncient DNAGenetics PopulationTandem Repeat SequencesToothProceedings of the National Academy of Sciences of the United States of America
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Hepatocyte growth factor induces MAT2A expression and histone acetylation in rat hepatocytes: role in liver regeneration 1

2001

SPECIFIC AIMSWe have studied the molecular mechanisms and mediators behind the induction of methionine adenosyltransferase 2 A (MAT2A) gene expression in the regenerating rat liver after partial he...

medicine.medical_treatmentRNABiologyBiochemistryMolecular biologyLiver regenerationHistoneAcetylationMethionine AdenosyltransferaseGene expressionGeneticsmedicinebiology.proteinHepatocyte growth factorHepatectomyMolecular BiologyBiotechnologymedicine.drugThe FASEB Journal
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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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Dendritic cells lentivirally engineered to overexpress interleukin-10 inhibit contact hypersensitivity responses, despite their partial activation in…

2010

Background Dendritic cells (DCs) constitute an attractive target for immunotherapeutic approaches. Because DCs are largely refractory to transfection with plasmid DNA, several viral transduction protocols were established. The potential side-effects of lentiviral transduction on the phenotype and activation state of DCs left unstimulated after transduction have not been assessed. There is a need to analyse these parameters as a result of the requirement of using DCs with a low activation state for therapeutic strategies intended to induce tolerance. Methods Lentivirally-transduced bone marrow (BM)-derived DCs (LV-DCs) in comparison with mock-transduced (Mock-DCs) and untreated DCs were anal…

medicine.medical_treatmentT cellGenetic enhancementT-Lymphocyteschemical and pharmacologic phenomenaBiologyLymphocyte ActivationTransduction (genetics)MiceStress PhysiologicalTransduction GeneticDrug DiscoveryGeneticsmedicineAnimalsMolecular BiologyGenetics (clinical)Mice Inbred BALB CInterleukinhemic and immune systemsImmunotherapyTransfectionDendritic CellsCell biologyInterleukin-10Mice Inbred C57BLInterleukin 10Cytokinemedicine.anatomical_structureImmunologyDermatitis Allergic ContactMolecular MedicineFemaleImmunotherapyGenetic EngineeringThe journal of gene medicine
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Descriptive study on subjective experience of genetic testing with respect to relationship, family planning and psychosocial wellbeing among women wi…

2021

AbstractBackgroundDue to increased risk of endometrial and ovarian cancer, women belonging to known Lynch Syndrome (LS) families are recommended to undergo germline testing. Current practice in Finland is to offer counselling to women with pathogenic variant and advocate risk-reducing surgery (RRS) after completion of childbirth. The present study aimed to clarify the impacts of positive germline testing on family planning and reproductive decisions of these women, which are relatively unknown.MethodsSeventy-nine carriers of germline MMR gene pathogenic variant (path_MMR)were identified from the Finnish LS Registry as having genetic testing performed before the age of 45 years and not havin…

medicine.medical_treatmentTestingQH426-470ihmissuhteetCOLORECTAL-CANCER0302 clinical medicinehenkinen hyvinvointi5. Gender equality3123 Gynaecology and paediatricsChildbirthGenetics (clinical)RC254-282media_common0303 health sciencesmedicine.diagnostic_test030305 genetics & heredityNeoplasms. Tumors. Oncology. Including cancer and carcinogensLynch syndrometesting3. Good healthOncologyhereditary cancerFamily planning030220 oncology & carcinogenesissyöpätauditPsychosocialClinical psychologymedia_common.quotation_subject3122 CancersFertilityMUTATION CARRIERSPsychosocial wellbeingtestaus03 medical and health sciencesCHILDBEARINGmedicineGeneticsFERTILITYLynchin oireyhtymäGenetic testingperinnölliset tauditbusiness.industryEndometrial cancerResearchOophorectomyENDOMETRIAL CANCERmedicine.diseaseHereditary cancerperhesuunnitteluLynch syndromerelationshipsRelationshipsbusinesspsychosocial wellbeing
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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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