Search results for "polymorph"

showing 10 items of 2115 documents

Genetic variations of leptin and leptin receptor are associated with body composition changes in response to physical training

2010

Leptin regulates body weight, metabolism, and tissue adaptations to environmental stressors. We examined the association of single nucleotide polymorphism (SNP) of leptin promoter G-2548A (rs7799039) and leptin receptor Gln223Arg (rs1137101) with body composition, plasma leptin levels, and peak oxygen uptake (VO(2)peak) in response to 8 weeks of physical training in 48 male military conscripts. AA homozygotes of leptin promoter SNP-2548 showed higher body fat and BMI values than G allele carriers. Acute exercise decreased leptin levels in G allele carriers, but increased in AA homozygotes. Physical training significantly decreased BMI values and also a tendency for decreased plasma leptin l…

LeptinMalemedicine.medical_specialtyGenotypeClinical BiochemistrySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideBiochemistryBody Mass IndexYoung AdultOxygen ConsumptionInternal medicinemedicineHumansAllelePromoter Regions GeneticExerciseAllelesLeptin receptorLeptinHomozygotedigestive oral and skin physiologyVO2 maxCell BiologyGeneral MedicineEndocrinologyBlood chemistryHormone receptorBody CompositionReceptors LeptinBody mass indexhormones hormone substitutes and hormone antagonistsCell Biochemistry and Function
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Coordination isomerism in spin crossover (SCO) materials

2021

International audience; A new series of three spin crossover (SCO) Fe(II) complexes based on a cyanocarbanion and on the neutral quinolin-8-amine (aqin) ligands, [Fe(aqin)2(tcnsme)2] (1), [Fe(aqin)2(tcnset)2] (2), and [Fe(aqin)2(tcnspr)2] (3), has been studied. The three complexes display similar molecular structures consisting of discrete [Fe(aqin)2(tcnsR)2] complexes [R = Me (1), Et (2), and Pr (3)]. Infrared spectroscopy and magnetic studies, performed on the three complexes, revealed the presence of similar SCO behaviors which strongly differ by their transition temperatures [234 K (1) < 266 K (2) < 360 K (3)]. The increase of the transition temperatures when passing from 1 to 3 may be …

Ligand field theoryMaterials scienceMolecular magnetic propertiesGeneral Physics and AstronomyInfrared spectroscopyElectron donor02 engineering and technologyCrystal structure01 natural scienceschemistry.chemical_compoundIsomerism[CHIM.ANAL]Chemical Sciences/Analytical chemistrySpin crossover0103 physical sciences[CHIM]Chemical SciencesPolymorphismInfrared spectroscopyAlkylLigand fields010302 applied physicschemistry.chemical_classificationCrystal structureTransition temperature[CHIM.MATE]Chemical Sciences/Material chemistry021001 nanoscience & nanotechnologyIntermolecular forcesMaterials scienceCoordination isomerismCrystallographychemistry0210 nano-technologyJournal of Applied Physics
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New Reactivity of 4‐Amino‐3,5‐bis(pyridin‐2‐yl)‐1,2,4‐triazole: Synthesis and Structure of a Mononuclear Species, a Dinuclear Species, and a Novel Te…

2007

Reactions of Ni(O 2 CMe) 2 ·4H 2 O or NiCl 2 ·6H 2 O, 4-amino-3,5-bis(pyridin-2-yl)-1,2,4-triazole (abpt) and NaN 3 or KSCN in different molar ratios heated under reflux or hydrothermal conditions generate a mononuclear species with dimorphous phases, a dinuclear species incorporating an in situ deaminated [bpt-H] - ligand and a tetranuclear rectangle box incorporating an unprecedented μ:η 1 :η 2 :η 1 coordination mode of the deprotonated [abpt-H] - ligand. Structural analysis reveals that a pair of [Ni 2 (μ 1,1 -N 3 )(μ-OAc)] motifs in [Ni 4 (abpt) 2 -(abpt-H)(N3) 5 (Ο 2 CMe) 2 ]·5H 2 O (1) are bridged by two abpt and one [abpt-H] - units into a rectangle box. [Ni 2 (bpt-H) 2 -(SCN) 2 (H 2…

LigandStereochemistryChemistry124-Triazolechemistry.chemical_elementMagnetic susceptibilityInorganic Chemistrychemistry.chemical_compoundCrystallographyNickelDeprotonationFerromagnetismPolymorphism (materials science)AntiferromagnetismEuropean Journal of Inorganic Chemistry
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Neural and genetic correlates of antidepressant response to sleep deprivation - A functional magnetic resonance imaging study of moral valence decisi…

2007

Context: Total sleep deprivation combined with light therapy causes rapid amelioration of bipolar depression. A polymorphism in the promoter for the serotonin transporter influences both antidepressant response and the structure and function of specific brain areas. Objective: To determine whether antidepressant therapy or the genotype of the serotonin transporter influence the pattern of neural response to a task targeting the depressive biases in information processing (moral valence decision). Design: Before-and-after trial studying the biologic correlates of response to treatment. Setting: University hospital. Patients: Twenty inpatients with bipolar depression. Intervention: Repeated t…

Light therapyMaleBipolar DisorderGenotypemedicine.medical_treatmentDecision MakingMoralsJudgmentArts and Humanities (miscellaneous)medicineHumansBipolar disorderSerotonin transporterCerebral CortexChronotherapyPsychiatric Status Rating ScalesSerotonin Plasma Membrane Transport ProteinsSleep disorderDepressive Disorder MajorPolymorphism GeneticbiologyHamilton Rating Scale for DepressionMiddle AgedPhototherapymedicine.diseaseCombined Modality TherapyMagnetic Resonance ImagingHospitalizationOxygenPsychiatry and Mental healthSleep deprivationMoodTreatment Outcomebiology.proteinAntidepressantSleep DeprivationFemalemedicine.symptomPsychologyPsychomotor PerformanceClinical psychology
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Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma

2014

Diffuse large B cell lymphoma (DLBCL) is the most common lymphoma subtype and is clinically aggressive. To identify genetic susceptibility loci for DLBCL, we conducted a meta-analysis of 3 new genome-wide association studies (GWAS) and 1 previous scan, totaling 3,857 cases and 7,666 controls of European ancestry, with additional genotyping of 9 promising SNPs in 1,359 cases and 4,557 controls. In our multi-stage analysis, five independent SNPs in four loci achieved genome-wide significance marked by rs116446171 at 6p25.3 (EXOC2; P = 2.33 × 10 '21), rs2523607 at 6p21.33 (HLA-B; P = 2.40 × 10 '10), rs79480871 at 2p23.3 (NCOA1; P = 4.23 × 10 '8) and two independent SNPs, rs13255292 and rs47336…

LimfomesGenotypeChronic lymphocytic leukemiaCèl·lules BQuantitative Trait LociPopulationFollicular lymphomaGenome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticleWhite PeopleGeneticsGenetic predispositionmedicineHumansGenetic Predisposition to DiseaseeducationGenetic associationGeneticsLikelihood Functionseducation.field_of_studyB cellsChromosome MappingComputational Biologymedicine.diseaseGenetic Locilarge B cell lymphoma (DLBCL)LymphomasLymphoma Large B-Cell DiffuseDiffuse large B-cell lymphomaGenome-Wide Association Study
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Taxonomic complexity in the halophyte Limonium vulgare and related taxa (Plumbaginaceae): insights from analysis of morphological, reproductive and k…

2014

Part of a special issue on halophytes and saline adaptations Background and Aims Limonium is awell-known example of a group of plants that is taxonomically complex due to certain biological characteristics that hamper species’ delineation. The closely related polyploid species Limonium vulgare Mill., L. humile Mill. and L. narbonense Mill. are defined species and can be used for studying patterns of morphological and reproductive variation. The first two taxa are usually found in Atlantic Europe and the third in the Mediterranean region, but a numberof intermediate morphological formsmay be present alongside typical examples of these species. This study attempts to elucidate morphological, …

LimoniumBiodiversityPlant ScienceLimonium humileLimonium humileLimonium vulgaretaxonomyPlumbaginaceaePolyploidpollen-stigma dimorphismHeterostylyPhylogenypolyploidyPortugalbiologyEcologyReproductionLimonium narbonenseGenetic VariationSpecies diversitySalt-Tolerant PlantsArticlesBiodiversitybiology.organism_classificationBiological Evolutionkaryological polymorphismsTaxonSpainEvolutionary biologyhalophyteTaxonomy (biology)Limonium maritimumheterostylymorphometryAnnals of Botany
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Association of ADHD with genetic variants in the 5'-region of the dopamine transporter gene: evidence for allelic heterogeneity.

2008

Contains fulltext : 69953.pdf (Publisher’s version ) (Closed access) Multiple studies have reported an association between attention deficit hyperactivity disorder (ADHD) and the 10-repeat allele of a variable number tandem repeat (VNTR) polymorphism in the 3'-untranslated region (3'UTR) of the dopamine transporter gene (DAT1). Yet, recent meta-analyses of available data find little or no evidence for this association; although there is strong evidence for heterogeneity between datasets. This pattern of findings could arise for several reasons including the presence of relatively rare risk alleles on common haplotype backgrounds or the functional interaction of two or more loci within the g…

Linkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]Medizin2804 Cellular and Molecular NeuroscienceNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Promoter Regions GeneticGenetics (clinical)Genetics0303 health sciences10058 Department of Child and Adolescent PsychiatryEuropeVariable number tandem repeatPsychiatry and Mental health/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingAllelic heterogeneityFunctional Neurogenomics [DCN 2]Genetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthBiologyPolymorphism Single NucleotideMental health [NCEBP 9]White PeopleGenomic disorders and inherited multi-system disorders [IGMD 3]Genetic Heterogeneity03 medical and health sciencesCellular and Molecular NeuroscienceSDG 3 - Good Health and Well-beingCognitive neurosciences [UMCN 3.2]Humansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAllele frequencyAlleles030304 developmental biologyDopamine Plasma Membrane Transport ProteinsGenetic heterogeneityHaplotypeGenetic VariationHaplotypesGenetic defects of metabolism [UMCN 5.1]Attention Deficit Disorder with Hyperactivity5' Untranslated Regions030217 neurology & neurosurgeryMicrosatellite Repeats
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Accounting for haplotype phase uncertainty in linkage disequilibrium estimation

2007

The characterization of linkage disequilibrium (LD) is applied in a variety of studies including the identification of molecular determinants of the local recombination rate, the migration and population history of populations, and the role of positive selection in adaptation. LD suffers from the phase uncertainty of the haplotypes used in its calculation, which reflects limitations of the algorithms used for haplotype estimation. We introduce a LD calculation method, which deals with phase uncertainty by weighting all possible haplotype pairs according to their estimated probabilities as evaluated by PHASE. In contrast to the expectation-maximization (EM) algorithm as implemented in the HA…

Linkage disequilibriumGenotypeEpidemiologyPopulationValidation Studies as TopicPolymorphism Single NucleotideLinkage DisequilibriumGene FrequencyExpectation–maximization algorithmHumansComputer SimulationeducationGenetics (clinical)Genetic associationMathematicsGeneticseducation.field_of_studyModels GeneticHaplotypeComputational BiologyContrast (statistics)WeightingHaplotypesHaplotype estimationAlgorithmSoftwareGenetic Epidemiology
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Interethnic studies of TNF polymorphisms confirm the likely presence of a second MHC susceptibility locus in ankylosing spondylitis

2000

The objective of this study was to investigate TNF promoter region polymorphisms for association with susceptibility to ankylosing spondylitis (AS). The TNF -238 and -308 polymorphisms were genotyped in 306 English AS cases and 204 ethnically matched healthy B27-positive controls, and 96 southern German AS cases, 58 B27-positive and 251 B27-negative ethnically matched controls. Additionally, the TNF -376 polymorphism was genotyped in the southern German cases and controls. In the southern German AS patients a significant reduction in TNF -308.2 alleles was seen, compared with B27 positive controls (odds ratio 0.4, P = 0.03, 95% confidence interval 0.2-0.9), but no difference in allele frequ…

Linkage disequilibriumGenotypeImmunologyPopulationBiologyLinkage DisequilibriumMajor Histocompatibility ComplexGene FrequencyGermanyGenotypeEthnicityGeneticsmedicineHumansSpondylitis AnkylosingAllelePromoter Regions GeneticeducationAllele frequencySpondylitisAllelesGenetics (clinical)DNA PrimersGeneticseducation.field_of_studyPolymorphism GeneticBase SequenceTumor Necrosis Factor-alphaCase-control studyOdds ratiomedicine.diseaseEnglandCase-Control StudiesImmunologyGenes &amp; Immunity
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Meta-analysis of mismatch repair polymorphisms within the cogent consortium for colorectal cancer susceptibility

2013

In the last four years, Genome-Wide Association Studies (GWAS) have identified sixteen low-penetrance polymorphisms on fourteen different loci associated with colorectal cancer (CRC). Due to the low risks conferred by known common variants, most of the 35% broad-sense heritability estimated by twin studies remains unexplained. Recently our group performed a case-control study for eight Single Nucleotide Polymorphisms (SNPs) in 4 CRC genes. The present investigation is a followup of that study. We have genotyped six SNPs that showed a positive association and carried out a meta-analysis based on eight additional studies comprising in total more than 8000 cases and 6000 controls. The estimate…

Linkage disequilibriumGenotypeReparació de l'ADNlcsh:MedicineDNA repairGenome-wide association studySingle-nucleotide polymorphismBiologyGenetic polymorphismsDNA Mismatch RepairPolymorphism Single NucleotideDNA Glycosylases03 medical and health sciences0302 clinical medicineMUTYHCàncer colorectalHumansGenetic Predisposition to Diseaselcsh:ScienceGenetic Association Studies030304 developmental biologyGenetic associationGenetics0303 health sciencesMultidisciplinaryGenetic heterogeneityPolimorfisme genèticlcsh:RCase-control studyOdds ratioColorectal cancer3. Good health030220 oncology & carcinogenesisCase-Control Studieslcsh:QColorectal NeoplasmsResearch Article
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