Search results for "metabolism [NF-kappa B]"

showing 10 items of 123 documents

The C-terminal rod 2 fragment of filamin A forms a compact structure that can be extended

2012

Filamins are large proteins that cross-link actin filaments and connect to other cellular components. The C-terminal rod 2 region of FLNa (filamin A) mediates dimerization and interacts with several transmembrane receptors and intracellular signalling adaptors. SAXS (small-angle X-ray scattering) experiments were used to make a model of a six immunoglobulin-like domain fragment of the FLNa rod 2 (domains 16–21). This fragment had a surprising three-branched structural arrangement, where each branch was made of a tightly packed two-domain pair. Peptides derived from transmembrane receptors and intracellular signalling proteins induced a more open structure of the six domain fragment. Mutagen…

Models Moleculargenetics [Receptors Dopamine D3]metabolism [Recombinant Proteins]Protein Conformationgenetics [Antigens CD18]chemistry [Recombinant Proteins]Plasma protein bindingCrystallography X-RayLigandsFilaminmetabolism [Antigens CD18]metabolism [Cytoskeletal Proteins]BiochemistryfilaminsContractile ProteinsProtein structuremetabolism [Peptide Fragments]FLNAchemistry [Antigens CD18]genetics [Cell Adhesion Molecules]Small-angle X-ray scatteringMicrofilament Proteinsgenetics [Contractile Proteins]Recombinant Proteinschemistry [Receptors Dopamine D3]FBLIM1 protein humanddc:540Domain (ring theory)DimerizationProtein Bindingchemistry [Contractile Proteins]FilaminsAntigens CD18metabolism [Cell Adhesion Molecules]BiologyScattering Small Anglemetabolism [Receptors Dopamine D3]Humanschemistry [Microfilament Proteins]Protein Interaction Domains and Motifsmetabolism [Mutant Proteins]DRD3 protein humanMolecular Biologymetabolism [Contractile Proteins]Actingenetics [Cytoskeletal Proteins]Cryoelectron MicroscopyMutagenesista1182Receptors Dopamine D3metabolism [Microfilament Proteins]Cell Biologychemistry [Cell Adhesion Molecules]genetics [Peptide Fragments]Peptide FragmentsCytoskeletal ProteinsCrystallographychemistry [Mutant Proteins]chemistry [Peptide Fragments]CD18 AntigensBiophysicschemistry [Cytoskeletal Proteins]Mutant Proteinsgenetics [Microfilament Proteins]Cell Adhesion MoleculesBiochemical Journal
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Parent of origin effects in attention/deficit hyperactivity disorder (ADHD): analysis of data from the international multicenter ADHD genetics (IMAGE…

2008

Contains fulltext : 71540.pdf (Publisher’s version ) (Closed access) There are conflicting reports suggesting that the parental origin of transmitted risk alleles may play a role in the etiology of attention deficit/hyperactivity disorder (ADHD). A recent report by Hawi and colleagues observed a generalized paternal over-transmission of alleles associated with ADHD. This was not replicated in more recent studies. Using data from a large multicenter study we examined the overall and gene-specific parent of origin effect in 554 independent SNPs across 47 genes. Transmission disequilibrium and explicit parent of origin test were performed using PLINK. Overall parent of origin effect was tested…

ParentsCandidate geneGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]Genetics(clinical)Genetics (clinical)0303 health sciencesTPH210058 Department of Child and Adolescent PsychiatryPsychiatry and Mental healthData Interpretation StatisticalFunctional Neurogenomics [DCN 2]Clinical psychologyGenetic Markers2716 Genetics (clinical)Single-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Polymorphism Single NucleotideGenetic determinismGenomic disorders and inherited multi-system disorders [IGMD 3]Molecular epidemiology [NCEBP 1]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]Translational research [ONCOL 3]medicineAttention deficit hyperactivity disorderHumansFamilyGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAlleles030304 developmental biologyChi-Square DistributionEndocrinology and reproduction [UMCN 5.2]business.industrymedicine.diseaseGenetic defects of metabolism [UMCN 5.1]Multicenter studyAttention Deficit Disorder with HyperactivityEtiologybusiness030217 neurology & neurosurgeryAmerican journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
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�ber den Einflu� von Digitoxigenin auf das Aktionspotential des Vorhofs euthyreoter und hyperthyreoter Meerschweinchen bei experimentellen Insuffizie…

1961

An isolierten Herzohren von Meerschweinchen wurden intracellulare Aktionspotentiale unter gleichzeitiger Registrierung der Kontraktionen abgeleitet. Untersucht wurde der Einflus des Digitoxigenins nach Barbituratschadigung und unter Calciummangel bei euthyreoten und hyperthyreoten Tieren.

PharmacologyCalcium Metabolism DisordersAtrium (architecture)business.industryPharmacology toxicologyGeneral MedicinePharmacologymedicine.diseaseDigitoxigeninchemistry.chemical_compoundchemistryHeart failuremedicineEuthyroidDIGITALIS GLYCOSIDESbusinessHeart atriumNaunyn-Schmiedeberg's Archiv f�r Experimentelle Pathologie und Pharmakologie
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Intelligence in DSM-IV combined type attention-deficit/hyperactivity disorder is not predicted by either dopamine receptor/transporter genes or other…

2008

Contains fulltext : 69677.pdf (Publisher’s version ) (Closed access) A major goal of genetic studies of attention deficit hyperactivity disorder (ADHD) is to identify individual characteristics that might help segregate the disorder's inherent heterogeneity. [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] recently reported a potentially important association between two dopamine-related risk polymorphisms (DRD4 variable number tandem repeat (VNTR) in exon 3 and DAT1 VNTR in the 3' UTR) and lowered IQ in ADHD. The objective of the current study was to replicate the [Mill et al. (2006); Arch Ger Psychiatry 63:462-469] findings in a clinical sample and to extend the analysis to a large ra…

ProbandMaleGenetics and epigenetic pathways of disease [NCMLS 6]Intelligence2804 Cellular and Molecular NeuroscienceMedizinNeuroinformatics [DCN 3]Receptors DopamineCohort Studies2738 Psychiatry and Mental Health0302 clinical medicineRisk FactorsPerception and Action [DCN 1]MedicineGenetics(clinical)ChildGenetics (clinical)10058 Department of Child and Adolescent Psychiatry3. Good healthVariable number tandem repeatPsychiatry and Mental healthChild PreschoolFemaleFunctional Neurogenomics [DCN 2]Clinical psychology2716 Genetics (clinical)AdolescentGenotypeSingle-nucleotide polymorphism610 Medicine & healthMental health [NCEBP 9]Genomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]mental disordersAttention deficit hyperactivity disorderHumansGenetic Predisposition to Diseaseddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleRisk factorAssociation (psychology)AllelesDopamine Plasma Membrane Transport Proteinsbusiness.industrymedicine.disease030227 psychiatryGenetic defects of metabolism [UMCN 5.1]Genetic markerAttention Deficit Disorder with Hyperactivitybusiness030217 neurology & neurosurgery
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Genetic heterogeneity in ADHD: DAT1 gene only affects probands without CD

2008

Contains fulltext : 70183.pdf (Publisher’s version ) (Closed access) Previous studies have found heterogeneous association between DAT1-3'-UTR-VNTR and attention deficit hyperactivity disorder (ADHD). Various proportions of conduct disorder (CD) comorbidity in their ADHD samples may partially explain the observational discrepancies. Evidence for this comes from family and twin studies which found ADHD probands with CD (ADHD + CD) are genetically different from those without CD (ADHD - CD). Genotypes of 20 DAT1 markers were analyzed in 576 trios, consisting of 141 ADHD + CD and 435 ADHD - CD. In addition to the classical TDT test, a specific genetic heterogeneity test was performed to identi…

ProbandMaleLinkage disequilibriumGenetics and epigenetic pathways of disease [NCMLS 6]2804 Cellular and Molecular NeuroscienceMedizinComorbidityNeuroinformatics [DCN 3]Linkage Disequilibrium2738 Psychiatry and Mental Health0302 clinical medicineGene FrequencyPerception and Action [DCN 1]Genetics(clinical)ChildGenetics (clinical)GeneticsIncidence10058 Department of Child and Adolescent PsychiatryEuropePsychiatry and Mental healthConduct disorder/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_beingFemaleFunctional Neurogenomics [DCN 2]Conduct DisorderGenetic Markers2716 Genetics (clinical)GenotypeSingle-nucleotide polymorphism610 Medicine & healthBiologyMental health [NCEBP 9]Polymorphism Single Nucleotidebehavioral disciplines and activitiesGenomic disorders and inherited multi-system disorders [IGMD 3]03 medical and health sciencesGenetic HeterogeneityCellular and Molecular NeuroscienceCognitive neurosciences [UMCN 3.2]SDG 3 - Good Health and Well-beingmental disordersmedicineAttention deficit hyperactivity disorderHumansddc:610Medizinische Fakultät » Universitätsklinikum Essen » LVR-Klinikum Essen » Klinik für Psychiatrie Psychosomatik und Psychotherapie des Kindes- und JugendaltersAlleleAllelesDopamine Plasma Membrane Transport ProteinsChi-Square DistributionGenetic heterogeneitymedicine.diseaseTwin study030227 psychiatryGenetic defects of metabolism [UMCN 5.1]HaplotypesAttention Deficit Disorder with Hyperactivity030217 neurology & neurosurgery
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Heat shock protein 27 is involved in SUMO-2/3 modification of heat shock factor 1 and thereby modulates the transcription factor activity

2009

Heat shock protein 27 (HSP27) accumulates in stressed cells and helps them to survive adverse conditions. We have already shown that HSP27 has a function in the ubiquitination process that is modulated by its oligomerization/phosphorylation status. Here, we show that HSP27 is also involved in protein sumoylation, a ubiquitination-related process. HSP27 increases the number of cell proteins modified by small ubiquitin-like modifier (SUMO)-2/3 but this effect shows some selectivity as it neither affects all proteins nor concerns SUMO-1. Moreover, no such alteration in SUMO-2/3 conjugation is achievable by another HSP, such as HSP70. Heat shock factor 1 (HSF1), a transcription factor responsib…

Protein sumoylationTranscriptional ActivationCancer Researchendocrine systemanimal structuresSUMO proteinHSP27 Heat-Shock ProteinsBiologyurologic and male genital diseasesenvironment and public healthSubstrate Specificity03 medical and health sciencesTransactivation0302 clinical medicineHeat Shock Transcription FactorsHeat shock proteinGeneticsAnimalsHumansAnimals Cell Nucleus/metabolism DNA-Binding Proteins/*metabolism HSP27 Heat-Shock Proteins/chemistry/*metabolism Hela Cells Humans Protein Multimerization Protein Structure[SDV.BBM]Life Sciences [q-bio]/Biochemistry Molecular BiologyHSF1Protein Structure QuaternaryMolecular BiologyTranscription factorUbiquitinsHeat-Shock Proteins030304 developmental biologyCell Nucleus0303 health sciencesMolecular biologyHsp70Cell biologyHeat shock factorDNA-Binding ProteinsProtein TransportQuaternary Protein Transport Small Ubiquitin-Related Modifier Proteins/*metabolism Substrate Specificity Transcription Factors/*metabolism Transcriptional Activation Ubiquitins/*metabolism030220 oncology & carcinogenesisembryonic structuresSmall Ubiquitin-Related Modifier ProteinsProtein MultimerizationHeLa CellsMolecular ChaperonesTranscription Factors
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An organelle-specific protein landscape identifies novel diseases and molecular mechanisms.

2016

Cellular organelles provide opportunities to relate biological mechanisms to disease. Here we use affinity proteomics, genetics and cell biology to interrogate cilia: poorly understood organelles, where defects cause genetic diseases. Two hundred and seventeen tagged human ciliary proteins create a final landscape of 1,319 proteins, 4,905 interactions and 52 complexes. Reverse tagging, repetition of purifications and statistical analyses, produce a high-resolution network that reveals organelle-specific interactions and complexes not apparent in larger studies, and links vesicle transport, the cytoskeleton, signalling and ubiquitination to ciliary signalling and proteostasis. We observe sub…

Proteomics0301 basic medicineSystems AnalysisDNA Mutational Analysislnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4]General Physics and AstronomyDatasets as Topicmethods [Chromatography Affinity]ProteomicsSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Chromatography AffinityMass SpectrometryProtein Interaction Mappingtherapy [Ciliopathies]genetics [Ciliopathies]methods [Molecular Targeted Therapy]Molecular Targeted TherapyProtein Interaction MapsMultidisciplinaryCiliumChemistry (all)Qabnormalities [Spine]pathology [Ciliopathies]genetics [Muscle Hypotonia]therapy [Muscle Hypotonia]Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6]metabolism [Proteins]isolation & purification [Proteins]physiology [Biological Transport]3. Good healthCell biologyVesicular transport proteinpathology [Dwarfism]metabolism [Cilia]Muscle Hypotoniaddc:500pathology [Muscle Hypotonia]pathology [Spine]genetics [Dwarfism]Rare cancers Radboud Institute for Health Sciences [Radboudumc 9]ScienceDwarfismExocystBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyPhysics and Astronomy (all)03 medical and health sciencesIntraflagellar transportCiliogenesisOrganelleHumansCiliaBiochemistry Genetics and Molecular Biology (all)ProteinsBiological TransportGeneral Chemistrytherapy [Dwarfism]Fibroblastsgenetics [Proteins]CiliopathiesSpinemethods [Protein Interaction Mapping]Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11]030104 developmental biologyProteostasisHEK293 Cellsmethods [Proteomics]
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The role of gut micorbiome in obesity and diabetes

2019

Background Obesity and diabetes became a grooving problem in both adults and children. Many hypotheses concerned agents involved in the excessive weight gain process and it’s consequences. Not only genetic or environmental factors, but also intestinal microbiome seems to play a role in the pathophysiology of this phenomenon. Data sources A systematic review was conducted using Pubmed as the medical database source. Studies concerning connection between microbiome and metabolic disorders such as obesity and diabetes from last 10 years were analyzed. Results Intestinal bacteria may be involved both in the development of obesity, and its further complications. The pro-infammatory and immunomod…

Psychological interventionBioinformaticslaw.invention03 medical and health sciencesProbiotic0302 clinical medicineInsulin resistancelaw030225 pediatricsDiabetes mellitusDiabetes MellitusMedicineHumans030212 general & internal medicineMicrobiomeObesityHost Microbial Interactionsbusiness.industryDiabetesmedicine.diseaseObesityGastrointestinal MicrobiomePediatrics Perinatology and Child HealthCarbohydrate Metabolism DisorderDysbiosisDisease SusceptibilityMicrobiomebusinessDysbiosisWorld Journal of Pediatrics
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Low physical activity and its association with diabetes and other cardiovascular risk factors: a nationwide, population-based study

2016

Spanish Biomedical Research Centre in Diabetes and Associated Metabolic Disorders (CIBERDEM; ISCIII Ministerio de Ciencia e Innovacion); Ministerio de Sanidad y Consumo; Spanish Diabetes Society (SED)

QuestionnairesMaleDislipidemiasCross-sectional studyEstudios transversalesEspañaObesidadÍndice de masa corporalBiochemistryBody Mass Index0302 clinical medicineEndocrinology:Phenomena and Processes::Musculoskeletal and Neural Physiological Phenomena::Musculoskeletal Physiological Phenomena::Musculoskeletal Physiological Processes::Movement::Motor Activity [Medical Subject Headings]Public and Occupational Healthlcsh:Science:Phenomena and Processes::Physiological Phenomena::Nutritional Physiological Phenomena::Diet::Diet Mediterranean [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Vital Statistics::Morbidity::Prevalence [Medical Subject Headings]:Chemicals and Drugs::Lipids::Glycerides::Triglycerides [Medical Subject Headings]:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]Aged 80 and overDiabetis:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Lipid Metabolism Disorders::Dyslipidemias [Medical Subject Headings]:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Overweight::Obesity::Obesity Abdominal [Medical Subject Headings]Cardiovascular DiseasesObesitatEnfermedades cardiovascularesFactores de riesgomedicine.medical_specialtyEndocrine Disorders:Chemicals and Drugs::Lipids::Lipoproteins::Lipoproteins HDL::Cholesterol HDL [Medical Subject Headings]:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Behavior::Habits::Smoking [Medical Subject Headings]QüestionarisTriglicéridosExercici -- Aspectes sanitaris03 medical and health sciencesDiabetes MellitusHumans:Diseases::Cardiovascular Diseases [Medical Subject Headings]ExerciseAgedSurvey ResearchMalalties cardiovascularsPreventionlcsh:REnfermedad crónicaBiology and Life SciencesPhysical ActivityInsulin-resistancemedicine.diseaseActividad motoraObesityLipid metabolismCross-Sectional StudiesDyslipidemiaAdherenceGlucosalcsh:QBody mass indexDyslipidemiaDemography:Psychiatry and Psychology::Behavior and Behavior Mechanisms::Psychology Social::Life Style::Sedentary Lifestyle [Medical Subject Headings]PhysiologyPhysical fitnessSistema cardiovascular -- Malalties:Chemicals and Drugs::Carbohydrates::Monosaccharides::Hexoses::Glucose [Medical Subject Headings]lcsh:Medicine:Phenomena and Processes::Physiological Phenomena::Body Constitution::Body Weights and Measures::Body Size::Body Weight::Overweight::Obesity [Medical Subject Headings]:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings]Obesidad abdominalGeographical LocationsGlucose MetabolismRisk FactorsHábito de fumarMedicine and Health SciencesPrevalence030212 general & internal medicinePrediabetes:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Data Collection::Surveys and Questionnaires [Medical Subject Headings]Multidisciplinary:Diseases::Pathological Conditions Signs and Symptoms::Pathologic Processes::Disease Attributes::Chronic Disease [Medical Subject Headings]DiabetesMiddle Aged:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Epidemiologic Study Characteristics as Topic::Epidemiologic Studies::Cross-Sectional Studies [Medical Subject Headings]EuropeEncuestas y cuestionariosPhysiological ParametersResearch DesignCarbohydrate MetabolismFemaleResearch ArticleAdultAdolescent030209 endocrinology & metabolismVida sedentariaResearch and Analysis MethodsHDL-colesterolYoung AdultSex FactorsDiabetes mellitusmedicineAdultsObesityEspanya:Diseases::Endocrine System Diseases::Diabetes Mellitus::Prediabetic State [Medical Subject Headings]Sedentary lifestylebusiness.industryEstado prediabéticoBody WeightPhysical fitnessDieta mediterráneaMetabolisme dels lípidsDietMetabolismSpainMetabolic DisordersPeople and PlacesPhysical therapySedentary BehaviorbusinessPrevalenciaCondició física
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Genetic regulation of iron homeostasis in sideropenic patients with mild COVID-19 disease under a new oral iron formulation: Lessons from a different…

2022

Background: Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) needs iron to replicate itself. Coronaviruses are able to upregulate Chop/Gadd153 and Arg1 genes, consequently leading to CD8 lymphocytes decrease, degradation of asparagine and decreased nitric oxide (NO), thus impairing immune response and antithrombotic functions. Little is known about regulation of genes involved in iron metabolism in pauci symptomatic patients with COVID-19 disease or in patients with iron deficiency treated with sucrosomial iron. Methods: Whole blood was taken from the COVID-19 patients and from patients with sideropenic anemia, treated or not (control group) with iron supplementations. Enrolled …

SARS-CoV-2IronMacrophagesImmunologyCovid-19 Hepcidin Arginase-1 Iron metabolism Chop/gadd153 Sucrosomial ironImmunology and AllergyHumansCOVID-19HomeostasisHematologyIron DeficienciesFerric CompoundsImmunobiology
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