Search results for "binding"

showing 10 items of 3896 documents

Deficient pulsatile thyrotropin secretion in the low-thyroid-hormone state of severe non-thyroidal illness

1994

Custro N, Scafidi V, Gallo S, Notarbartolo A. Deficient pulsatile thyrotropin secretion in the low-thyroid-hormone state of severe non-thyroidal illness. Eur J Endocrinol 1994;130:132–6. ISSN 0804–4643. Twenty-four-hour thyrotropin (TSH) profiles in eight severely ill patients were compared with those of six healthy subjects. The profiles were assessed using the cosinor method to evaluate circadian variations and using the Pulsar algorithm to analyze episodic secretion. In the normal subjects, the typical periodicity of TSH secretion showed a mean level in the rhythm (mesor) of 2.03 mU/l, The amplitude (half the extent of rhythmic change in the cycle) was 0.58 mU/l; the acrophase (the delay…

AdultLiver CirrhosisMaleendocrine systemmedicine.medical_specialtyTriiodothyronine Reverseendocrine system diseasesEndocrinology Diabetes and MetabolismPulsatile flowThyrotropinBiologyThyroxine-Binding ProteinsEndocrinologyRhythmHypothyroidismThyrotropic cellNeoplasmsInternal medicinemedicineHumansCircadian rhythmTriiodothyroninePulse (signal processing)ThyroidGeneral MedicineMiddle AgedCircadian RhythmThyroxineEndocrinologymedicine.anatomical_structurePulsatile FlowTriiodothyronineFemaleHormoneEuropean Journal of Endocrinology
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Increased protein kinase A regulatory subunit content and cGMP binding in erythrocyte membranes in liver cirrhosis

2003

Abstract Background/Aims : Patients with liver disease show increased plasma cGMP and decreased intracellular cGMP in lymphocytes. The initial aim of this work was to assess whether decreased intracellular cGMP and increased plasma cGMP may be due to increased ATP-dependent release of cGMP from cells. The results obtained led to a new aim: to identify and quantify a protein responsible for the increased cGMP binding found in erythrocyte membranes from patients with liver disease. Methods : ATP-dependent cGMP transport was determined in inside-out vesicles from erythrocyte membranes. cGMP-binding proteins were isolated from the membranes and identified by MALDI-TOF peptide mass fingerprint. …

AdultLiver CirrhosisMalemedicine.medical_specialtyProtein subunitPhosphodiesterase 3Biological Transport ActiveIn Vitro TechniquesBiologyInternal medicinemedicineHumansProtein kinase ACyclic GMPAgedCGMP bindingHepatologyErythrocyte MembraneMiddle AgedCyclic AMP-Dependent Protein KinasesMolecular WeightKineticsProtein SubunitsEndocrinologyCase-Control StudiesSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationCGMP transportbiology.proteinFemaleProtein AcGMP-dependent protein kinaseIntracellularJournal of Hepatology
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Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants

2016

Background & Aim: Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) and could possibly be associated with ABCG5/ABCG8 gene variants. We aimed to investigate the prevalence of CL in Caucasian adult patients with GD1 and the possible risk factors, including gene variants of the ABCG5/ABCG8 genes.
 Methods: 61 Caucasian patients with GD1 (38 female/23male), aged 18-62 years and 61 healthy subjects matched for age, gender and BMI, without CL, for comparison of lipid profiles. Data before start of enzyme replacement therapy (ERT) were recorded: clinical, haematological, sever…

AdultMale0301 basic medicineHeterozygotemedicine.medical_specialtyAdolescentLipoproteinsmedicine.medical_treatmentSplenectomyABCG8030105 genetics & heredityGastroenterologyWhite PeopleYoung Adult03 medical and health sciencesInsulin resistanceGene FrequencyCholelithiasisRisk FactorsInternal medicineGenotypePrevalencemedicineHumansEnzyme Replacement TherapyGenetic Predisposition to DiseaseATP Binding Cassette Transporter Subfamily G Member 5Genetic Association StudiesGaucher Diseasemedicine.diagnostic_testRomaniabusiness.industryATP Binding Cassette Transporter Subfamily G Member 8HomozygoteGastroenterologyCase-control studyGenetic VariationEnzyme replacement therapyMiddle Agedmedicine.diseaseCross-Sectional StudiesPhenotypeCase-Control StudiesGlucosylceramidaseFemaleLipid profilebusinessDyslipidemiaJournal of Gastrointestinal and Liver Diseases
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Hypoxia-Inducible Factor 2α Mutation-Related Paragangliomas Classify as Discrete Pseudohypoxic Subcluster

2016

Contains fulltext : 172720.pdf (Publisher’s version ) (Open Access) Recently, activating mutations of the hypoxia-inducible factor 2alpha gene (HIF2A/EPAS1) have been recognized to predispose to multiple paragangliomas (PGLs) and duodenal somatostatinomas associated with polycythemia, and ocular abnormalities. Previously, mutations in the SDHA/B/C/D, SDHAF2, VHL, FH, PHD1, and PHD2 genes have been associated with HIF activation and the development of pseudohypoxic (cluster-1) PGLs. These tumors overlap in terms of tumor location, syndromic presentation, and noradrenergic phenotype to a certain extent. However, they also differ especially by clinical outcome and by presence of other tumors o…

AdultMale0301 basic medicineOriginal articleCancer ResearchAdolescentMicroarraySDHBSDHABiologylcsh:RC254-282Oxidative PhosphorylationParagangliomaYoung Adult03 medical and health sciences0302 clinical medicineParagangliomaBasic Helix-Loop-Helix Transcription FactorsmedicineJournal ArticleCluster AnalysisHumansChildHypoxiaAgedGeneticsGene Expression ProfilingVascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16]Middle Agedlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasePhenotypeGene Expression Regulation NeoplasticGene expression profiling030104 developmental biologyHypoxia-inducible factors030220 oncology & carcinogenesisMutationFemaleSDHDTranscriptomeProtein BindingNeoplasia
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Elevated levels of Bcl-3 inhibits Treg development and function resulting in spontaneous colitis

2017

Bcl-3 is an atypical NF-κB family member that regulates NF-κB-dependent gene expression in effector T cells, but a cell-intrinsic function in regulatory T (Treg) cells and colitis is not clear. Here we show that Bcl-3 expression levels in colonic T cells correlate with disease manifestation in patients with inflammatory bowel disease. Mice with T-cell-specific overexpression of Bcl-3 develop severe colitis that can be attributed to defective Treg cell development and function, leading to the infiltration of immune cells such as pro-inflammatory γδT cells, but not αβ T cells. In Treg cells, Bcl-3 associates directly with NF-κB p50 to inhibit DNA binding of p50/p50 and p50/p65 NF-κB dimers, t…

AdultMale0301 basic medicineP50ScienceGeneral Physics and AstronomyBiologyT-Lymphocytes RegulatoryInflammatory bowel diseaseArticleGeneral Biochemistry Genetics and Molecular BiologyYoung Adult03 medical and health sciences0302 clinical medicineImmune systemB-Cell Lymphoma 3 ProteinProto-Oncogene ProteinsGene expressionmedicineAnimalsHumansColitisMice KnockoutRegulation of gene expressionMultidisciplinaryEffectorHEK 293 cellsQNF-kappa BTranscription Factor RelANF-kappa B p50 SubunitGeneral ChemistryMiddle AgedColitismedicine.diseaseMice Inbred C57BLHEK293 Cells030104 developmental biologyGene Expression Regulation030220 oncology & carcinogenesisImmunologyFemaleProtein BindingTranscription FactorsNature Communications
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Review with novel markers facilitates precise categorization of 41 cases of diagnostically challenging, “undifferentiated small round cell tumors”. A…

2017

Abstract Background Despite extensive immunohistochemical (IHC) and molecular studies combined with morphologic findings, a group of round/ovoid cell tumors histologically similar to Ewing sarcomas (ES) but lacking EWSR1-rearrangements may remain unclassifiable. Design We retrospectively analyzed 41 Ewing-like tumors (formalin-fixed, paraffin-embedded) previously determined as negative or non-informative for EWSR1-rearrangements by FISH and/or RT-PCR. A new histopathology revision and additional IHC and molecular analyses were carried out in order to investigate whether additional IHC and/or molecular testing in combination with the morphological findings may help in reaching a definitive d…

AdultMale0301 basic medicinePathologymedicine.medical_specialtyAdolescentDesmoplastic small-round-cell tumorSarcoma EwingSclerosing rhabdomyosarcomaImmunophenotypingPathology and Forensic MedicineYoung Adult03 medical and health sciences0302 clinical medicineBiomarkers TumormedicineHumansStromal tumorChildAgedRetrospective StudiesHomeodomain ProteinsGiSTbusiness.industryNuclear ProteinsCell DifferentiationGeneral MedicineMiddle AgedPrognosismedicine.diseaseImmunohistochemistrySynovial sarcomaMolecular TypingHomeobox Protein Nkx-2.2030104 developmental biology030220 oncology & carcinogenesisSarcoma Small CellFemaleSarcomaClear-cell sarcomaRNA-Binding Protein EWSbusinessTranscription FactorsMyoepithelial TumorAnnals of Diagnostic Pathology
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Histological Features of Cerebellar Neuropathology in Patients With Alcoholic and Nonalcoholic Steatohepatitis

2018

Alcoholic steatohepatitis (ASH) and nonalcoholic steatohepatitis (NASH) affect 29 million people in the European Union. Patients with ASH and NASH may exhibit cognitive impairment, reducing their quality of life. Steatohepatitis induces cerebral alterations. It is not known if histological analysis could allow distinguishing ASH, NASH, and/or cirrhosis neuropathology and other entities. The aim of this work was to analyze a set of histopathological features characterizing the brain lesions due to ASH, NASH, and cirrhosis. We performed a histological study using hematoxylin and eosin staining and immunohistochemical techniques in cerebellum of 31 subjects who died with healthy liver (n = 6),…

AdultMale0301 basic medicinePathologymedicine.medical_specialtyAlcoholic liver diseaseCerebellumCell CountNeuropathologyPathology and Forensic Medicine03 medical and health sciencesCellular and Molecular Neuroscience0302 clinical medicineNon-alcoholic Fatty Liver DiseaseCerebellumHumansMedicinemedia_common.cataloged_instanceEuropean unionAgedmedia_commonNeuronsAnalysis of Variancebusiness.industryCalcium-Binding ProteinsMicrofilament ProteinsFatty liverGeneral MedicineMiddle Agedmedicine.diseaseDNA-Binding Proteins030104 developmental biologymedicine.anatomical_structureNeurologyFemaleCerebellar atrophyAlcoholic fatty liverNeurology (clinical)AtrophySteatohepatitisbusinessNeuroglia030217 neurology & neurosurgeryFatty Liver AlcoholicJournal of Neuropathology & Experimental Neurology
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Erratum to: Donor age and long-term culture do not negatively influence the stem potential of limbal fibroblast-like stem cells

2016

In regenerative medicine the maintenance of stem cell properties is of crucial importance. Ageing is considered a cause of reduced stemness capability. The limbus is a stem niche of easy access and harbors two stem cell populations: epithelial stem cells and fibroblast-like stem cells. Our aim was to investigate whether donor age and/or long-term culture have any influence on stem cell marker expression and the profiles in the fibroblast-like stem cell population.Fibroblast-like stem cells were isolated and digested from 25 limbus samples of normal human corneo-scleral rings and long-term cultures were obtained. SSEA4 expression and sphere-forming capability were evaluated; cytofluorimetric…

AdultMale0301 basic medicineStage-Specific Embryonic AntigensPrimary Cell CultureGene ExpressionMedicine (miscellaneous)Limbus CorneaeBiologyBiochemistry Genetics and Molecular Biology (miscellaneous)Donor age03 medical and health sciencesCell MovementSpheroids CellularmedicineATP Binding Cassette Transporter Subfamily G Member 2HumansFibroblastAgedCell ProliferationStem CellsAge FactorsEpithelium CornealCell DifferentiationEpithelial CellsHLA-DR AntigensNanog Homeobox ProteinCell BiologyFibroblastsMiddle AgedMolecular medicinehumanitiesNeoplasm ProteinsCell biology030104 developmental biologymedicine.anatomical_structureLeukocyte Common AntigensMolecular MedicineFemaleErratumStem cellOctamer Transcription Factor-3BiomarkersStem Cell Research & Therapy
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Notch‐1 signaling activation sustains overexpression of interleukin 33 in the epithelium of nasal polyps

2019

Abstract BACKGROUND: Alterations in the nasal epithelial barrier homeostasis and increased interleukin 33 (IL-33) expression contribute to the pathogenesis of chronic rhinosinusitis with nasal polyps (CRSwNP). AIMS: As Notch-1 signaling is crucial in repair processes of mucosa, the current study assessed Notch-1/Jagged-1 signaling and IL-33 in the epithelium of nasal polyps biopsies from allergic (A-CRSwNP; n = 9) and not allergic (NA-CRSwNP; n = 9) subjects by immunohistochemistry. We also assessed, in a model of nasal epithelial cells, the effects of stimulation of Notch-1 with Jagged-1 on the expression of IL-33 (by flow cytometry, immunofluorescence, and immunocytochemistry), Jagged-1 (…

AdultMale0301 basic medicineendocrine systemPhysiologyClinical BiochemistryImmunocytochemistryStimulationBiologyCell LineFlow cytometryYoung Adult03 medical and health sciencesNasal Polyps0302 clinical medicinestomatognathic systemmedicineHumansNasal polypsPhosphorylationReceptor Notch1SinusitisCyclic AMP Response Element-Binding ProteinNotch 1medicine.diagnostic_testEpithelial CellsCell BiologyMiddle AgedInterleukin-33medicine.diseaseRhinitis AllergicMolecular biologyEpitheliumUp-RegulationInterleukin 33Nasal Mucosa030104 developmental biologymedicine.anatomical_structure030220 oncology & carcinogenesisChronic DiseaseIL-33; Notch-1; chronic rhinosinusitis; nasal epithelium; nasal polypsImmunohistochemistryFemaleNOTCH-1 INTERLEUKIN 33 NASAL POLYPSJagged-1 ProteinSignal TransductionJournal of Cellular Physiology
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Genetic variations of the bitter taste receptor TAS2R38 are associated with obesity and impact on single immune traits

2015

Scope: Changes in genetic variations affecting the taste receptor, type 2, member 38 (TAS2R38) may identify the interacting mechanism leading to obesity and potential associations with proteins partaking in innate immunity, such as surfactant protein D (SPD) and mannan-binding lectin (MBL). Methods and results: We evaluated haplotypes of the bitter-taste receptor TAS2R38 in an identification sample of 210 women in different weight conditions, including anorexia nervosa and obesity. The association with SPD and MBL was tested in an independent sample picturing general population (n = 534). The relationship with obesity was validated in an extended final sample of 1319 participants. In the sa…

AdultMale0301 basic medicinemedicine.medical_specialtyAdolescentPopulation030209 endocrinology & metabolismSingle-nucleotide polymorphismBiologyMannose-Binding LectinPolymorphism Single NucleotideBody Mass IndexReceptors G-Protein-CoupledCohort StudiesYoung Adult03 medical and health sciences0302 clinical medicineInternal medicinemental disordersGenetic variationmedicineHumansObesityeducationAgedGeneticseducation.field_of_study030109 nutrition & dieteticsBody WeightSmokingHaplotypeGPR120Middle AgedPulmonary Surfactant-Associated Protein Dmedicine.diseaseObesityImmunity InnateTAS2R38EndocrinologyHaplotypesAnorexia nervosa (differential diagnoses)Case-Control StudiesTasteFemaleFood ScienceBiotechnologyMolecular Nutrition & Food Research
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