Search results for "binding proteins"

showing 10 items of 911 documents

Proteins from rat liver cytosol which stimulate mRNA transport. Purification and interactions with the nuclear envelope mRNA translocation system.

1986

Two polysome-associated proteins with particular affinities for poly(A) have been purified from rat liver. These proteins stimulate the efflux of mRNA from isolated nuclei in conditions under which such efflux closely stimulates mRNA transport in vivo, and they are therefore considered as mRNA-transport-stimulatory proteins. Their interaction with the mRNA-translocation system in isolated nuclear envelopes has been studied. The results are generally consistent with the most recently proposed kinetic model of mRNA translocation. One protein, P58, has not been described previously. It inhibits the protein kinase that down-regulates the NTPase, it enhances the NTPase activity in both the prese…

MaleNucleocytoplasmic Transport ProteinsNuclear EnvelopeRNA-binding proteinBiologyBiochemistryCytosolPhosphoprotein PhosphatasesMRNA transportAnimalsRNA MessengerProtein kinase AMessenger RNANucleocytoplasmic Transport ProteinsRNARNA-Binding ProteinsBiological TransportRats Inbred StrainsNucleoside-TriphosphatasePhosphoric Monoester HydrolasesCell biologyRatsCytosolBiochemistryLiverPolyribosomesPhosphorylationCarrier ProteinsPoly AProtein KinasesEuropean journal of biochemistry
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Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

2019

Purpose: To assess the contribution of rare variants in the genetic background toward variability of neurodevelopmental phenotypes in individuals with rare copy-number variants (CNVs) and gene-disruptive variants. Methods: We analyzed quantitative clinical information, exome sequencing, and microarray data from 757 probands and 233 parents and siblings who carry disease-associated variants. Results: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion (n=23, p=0.004) and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with thei…

MaleParents0301 basic medicineProbandNeuronalGenetic Carrier Screening16p11.2 deletion030105 genetics & heredityCognitionFamily historyNeural Cell Adhesion MoleculesGenetics (clinical)Exome sequencingSequence DeletionGeneticsGenetic Carrier ScreeningPhenotypePenetrancePedigreePhenotypeAutistic Disorder/genetics; Autistic Disorder/physiopathology; Cell Adhesion Molecules Neuronal/genetics; Chromosomes Human Pair 16/genetics; Cognition/physiology; DNA Copy Number Variations/genetics; Female; Gene Expression Regulation/genetics; Genetic Background; Genetic Carrier Screening; Humans; Male; Methyltransferases/genetics; Nerve Tissue Proteins/genetics; Parents; Pedigree; Phenotype; Proteins/genetics; Sequence Deletion/genetics; Siblings; 16p11.2 deletion; CNV; autism; modifier; phenotypic variabilityFemaleGenetic BackgroundHumanDNA Copy Number VariationsCell Adhesion Molecules NeuronalCNVautismNerve Tissue ProteinsBiologyChromosomesArticle03 medical and health sciencesmental disordersmedicineHumansAutistic DisorderBiologyGenemodifierPair 16SiblingsCalcium-Binding ProteinsProteinsMethyltransferasesmedicine.disease16p11.2 deletion; autism; CNV; modifier; phenotypic variability; Genetics (clinical)Cytoskeletal Proteins030104 developmental biologyGene Expression Regulation[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAutismphenotypic variabilityHuman medicine16p11.2 deletion; autism; CNV; modifier; phenotypic variability; Autistic Disorder; Cell Adhesion Molecules Neuronal; Chromosomes Human Pair 16; Cognition; DNA Copy Number Variations; Female; Gene Expression Regulation; Genetic Background; Humans; Male; Methyltransferases; Nerve Tissue Proteins; Parents; Pedigree; Phenotype; Proteins; Sequence Deletion; Siblings; Genetic Carrier ScreeningCell Adhesion MoleculesChromosomes Human Pair 16Transcription FactorsGenetics in Medicine
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Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

2013

International audience; OBJECTIVE: To determine the frequency and types of renal malformations, and to evaluate renal function in a cohort of patients with Kabuki syndrome (KS). STUDY DESIGN: Renal ultrasound scans and plasma creatinine measurements were collected from a French cohort of 94 patients with genotyped KS. Renal function was evaluated based on the estimated glomerular filtration rate. A genotype-phenotype study was conducted for renal and urinary tract malformations. RESULTS: Renal malformations were present in 22% of cases, and urinary tract anomalies were present in 15%. Renal malformations were observed in 28% of the MLL2 mutation-positive group and in 0% of the MLL2 mutation…

MalePathologyGenotyping Techniquesurologic and male genital diseasesKidneyCohort Studieschemistry.chemical_compoundChildUltrasonographyHistone Demethylases0303 health sciencesKidney030305 genetics & heredityNuclear ProteinsHypoplasia3. Good healthNeoplasm ProteinsDNA-Binding Proteinsmedicine.anatomical_structureVestibular DiseasesChild PreschoolCreatinineBiological MarkersFemaleFranceAbnormalitiesMultipleCohort studyGlomerular Filtration RateAdultGenetic Markersmedicine.medical_specialtyAdolescentUrinary systemUrologyRenal function03 medical and health sciencesYoung AdultmedicineHumansAbnormalities MultiplePreschoolGenetic Association Studies030304 developmental biologyRetrospective StudiesCreatinine[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfantRetrospective cohort studymedicine.diseaseHematologic DiseaseschemistryFacePediatrics Perinatology and Child Healthbusiness[ SDV.GEN ] Life Sciences [q-bio]/GeneticsKabuki syndromeBiomarkersThe Journal of pediatrics
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BLBP-expression in astrocytes during experimental demyelination and in human multiple sclerosis lesions

2011

Several lines of evidence indicate that remyelination represents one of the most effective mechanisms to achieve axonal protection. For reasons that are not yet understood, this process is often incomplete or fails in multiple sclerosis (MS). Activated astrocytes appear to be able to boost or inhibit endogenous repair processes. A better understanding of remyelination in MS and possible reasons for its failure is needed. Using the well-established toxic demyelination cuprizone model, we created lesions with either robust or impaired endogenous remyelination capacity. Lesions were analyzed for mRNA expression levels by Affymetrix GeneChip® arrays. One finding was the predominance of immune a…

MalePathologyPlatelet-derived growth factormedicine.medical_treatmentCell CountBehavioral Neurosciencechemistry.chemical_compoundMice0302 clinical medicineFluorescent Antibody Technique IndirectOligonucleotide Array Sequence AnalysisPlatelet-Derived Growth Factor0303 health sciencesGlial fibrillary acidic proteinbiologyExperimental autoimmune encephalomyelitisAstrocytomaMiddle AgedImmunohistochemistrymedicine.anatomical_structureFemaleFibroblast Growth Factor 2Fatty Acid-Binding Protein 7Adultmedicine.medical_specialtyEncephalomyelitis Autoimmune ExperimentalMultiple SclerosisImmunologyBlotting WesternNerve Tissue ProteinsFatty Acid-Binding ProteinsReal-Time Polymerase Chain ReactionTransfection03 medical and health sciencesCuprizoneCell Line TumorGlial Fibrillary Acidic ProteinmedicineAnimalsHumansRNA MessengerRemyelination030304 developmental biologyAgedEndocrine and Autonomic SystemsMultiple sclerosisGrowth factorTumor Suppressor Proteinsmedicine.diseaseOligodendrocyteMice Inbred C57BLchemistryAstrocytesbiology.proteinOsteopontinCarrier Proteins030217 neurology & neurosurgeryDemyelinating Diseases
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Clinicopathological and immunohistochemical analysis of 20 cases of Merkel cell carcinoma in search of prognostic markers.

2005

Aims:  To evaluate the clinicopathological and immunohistochemical characteristics of Merkel cell carcinoma (MCC) in an attempt to find new, potentially significant, prognostic markers. Methods and results:  Clinical data and follow-up, histopathological features (pattern, cell size, thickness, mitoses, vascular invasion, lymphocytic infiltration) and immunohistochemical detection [CK20, thyroid transcription factor (TTF-1), chromogranin A, synaptophysin, p53, Ki67, Fli-1, CD99, c-Kit] were evaluated in 20 cases of MCC. Fli-1 and CD99 were detected in 90% and 55% of cases, respectively. Tumour size > 30 mm, stage II, ‘absent’ lymphocytic infiltration, and the presence of > 50% of Ki67+ tumo…

MalePathologyThyroid Nuclear Factor 1Keratin-20Intermediate Filament ProteinsLymph nodeAged 80 and overbiologyMerkel cell carcinomaChromogranin ANuclear ProteinsGeneral MedicineMiddle AgedPrognosisImmunohistochemistryDNA-Binding ProteinsProto-Oncogene Proteins c-kitmedicine.anatomical_structureFemaleMerkel cellmedicine.medical_specialtyHistologyCD99Synaptophysin12E7 AntigenPathology and Forensic MedicineAntigens CDProto-Oncogene ProteinsCarcinomamedicineBiomarkers TumorChromograninsHumansSurvival analysisAgedNeoplasm StagingProto-Oncogene Protein c-fli-1Keratin 20medicine.diseaseSurvival AnalysisCarcinoma Merkel CellMicroscopy ElectronKi-67 AntigenMultivariate Analysisbiology.proteinTrans-ActivatorsChromogranin ANeoplasm Recurrence LocalTumor Suppressor Protein p53Cell Adhesion MoleculesFollow-Up StudiesTranscription FactorsHistopathology
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h-caldesmon immunoreactivity in atypical fibroxanthoma: implications for the differential diagnosis.

2017

MalePathologymedicine.medical_specialtySkin NeoplasmsSkin DiseasesH caldesmonPathology and Forensic MedicineDiagnosis Differential030207 dermatology & venereal diseases03 medical and health sciences0302 clinical medicinemedicineXanthomatosisHumansAgedAged 80 and overHistiocytoma Benign Fibrousbusiness.industryAtypical fibroxanthomamedicine.diseaseImmunohistochemistry030220 oncology & carcinogenesisImmunohistochemistryCalmodulin-Binding ProteinsFemaleDifferential diagnosisbusinessPathology
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Transcriptional induction of the fatty acid binding protein gene in mouse liver by bezafibrate

1993

AbstractThe mechanism by which hypolipidemic peroxisome proliferators of the fibrate family induce the liver fatty acid binding protein in liver of rodents is unknown. In order to delineate the level at which this protein is induced, the transcriptional activity of the specific gene encoding for liver fatty acid binding protein was measured in isolated hepatocyte nuclei obtained from male Swiss mice daily force-fed during 7 days with 400 mg/kg body weight bezafibrate. This treatment induced a 4-fold increase in the liver fatty acid binding protein transcription rate. Liver fatty acid binding protein mRNA level, measured by Northern blot analysis and cytosolic content of this protein, analyz…

MalePeroxisome proliferator activated receptorTranscription GeneticImmunoblottingBiophysicsPeroxisome proliferator-activated receptorNerve Tissue ProteinsFatty Acid-Binding ProteinsPeroxisome proliferator hypolipidemic drugBiochemistryFatty acid-binding proteinMiceStructural BiologyGeneticsmedicineAnimalsRNA Messengeradipocyte protein 2Molecular Biologychemistry.chemical_classificationLiver fatty acid binding proteinBezafibratebiologyBinding proteinBody WeightCell BiologyOrgan SizePeroxisomeBlotting NorthernMolecular biologyLipidsNeoplasm ProteinsGene regulationFatty acid synthasechemistryBiochemistryGene Expression RegulationLiverbiology.proteinElectrophoresis Polyacrylamide GelPeroxisome proliferator-activated receptor alphaBezafibrateCarrier ProteinsDNA ProbesFatty Acid-Binding Protein 7medicine.drugFEBS Letters
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Induction of the fatty acid transport protein 1 and acyl-CoA synthase genes by dimer-selective rexinoids suggests that the peroxisome proliferator-ac…

2000

The intracellular fatty acid content of insulin-sensitive target tissues determines in part their insulin sensitivity. Uptake of fatty acids into cells is a controlled process determined in part by a regulated import/export system that is controlled at least by two key groups of proteins, i.e. the fatty acid transport protein (FATP) and acyl-CoA synthetase (ACS), which facilitate, respectively, the transport of fatty acids across the cell membrane and catalyze their esterification to prevent their efflux. Previously it was shown that the expression of the FATP-1 and ACS genes was controlled by insulin and by peroxisome proliferator-activated receptor (PPAR) agonists in liver or in adipose t…

MalePeroxisome proliferator-activated receptor gammaTime FactorsReceptors Retinoic AcidRetinoic acidReceptors Cytoplasmic and NuclearPeroxisome proliferator-activated receptorTretinoinRetinoid X receptorBiologyFatty Acid-Binding ProteinsBiochemistryMicechemistry.chemical_compoundCoenzyme A LigasesTumor Cells CulturedAnimalsHumansTissue DistributionMolecular BiologyNucleic Acid Synthesis InhibitorsCell Nucleuschemistry.chemical_classificationDose-Response Relationship DrugFatty AcidsMembrane ProteinsFatty acidMembrane Transport ProteinsSerum Albumin Bovine3T3 CellsCell BiologyFatty Acid Transport ProteinsRatsRats ZuckerRetinoic acid receptorRetinoid X ReceptorschemistryBiochemistryDactinomycinFree fatty acid receptorRNAPeroxisome proliferator-activated receptor alphaCaco-2 CellsCarrier ProteinsTranscription Factors
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Inhibition of lymphocyte trafficking shields the brain against deleterious neuroinflammation after stroke

2011

T lymphocytes are increasingly recognized as key modulators of detrimental inflammatory cascades in acute ischaemic stroke, but the potential of T cell-targeted therapy in brain ischaemia is largely unexplored. Here, we characterize the effect of inhibiting leukocyte very late antigen-4 and endothelial vascular cell adhesion molecule-1-mediated brain invasion-currently the most effective strategy in primary neuroinflammatory brain disease in murine ischaemic stroke models. Very late antigen-4 blockade by monoclonal antibodies improved outcome in models of moderate stroke lesions by inhibiting cerebral leukocyte invasion and neurotoxic cytokine production without increasing the susceptibilit…

MalePore Forming Cytotoxic ProteinsIntegrin alpha4medicine.medical_treatmentT cellVascular Cell Adhesion Molecule-1Enzyme-Linked Immunosorbent AssayInflammationBrain ischemiaInterferon-gammaMicechemistry.chemical_compoundCell MovementLeukocytesAnimalsCytotoxic T cellMedicineLymphocytesVCAM-1Cell adhesionGait Disorders NeurologicNeuroinflammationMice KnockoutPerforinbusiness.industryAntibodies MonoclonalBrainFlow Cytometrymedicine.diseaseUp-RegulationDNA-Binding ProteinsMice Inbred C57BLStrokeDisease Models AnimalCytokinemedicine.anatomical_structurechemistryImmunologyEncephalitisNeurology (clinical)medicine.symptombusinessBrain
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Androglobin: a chimeric globin in metazoans that is preferentially expressed in mammalian testes

2012

Abstract: Comparative genomic studies have led to the recent identification of several novel globin types in the Metazoa. They have revealed a surprising evolutionary diversity of functions beyond the familiar O2 supply roles of hemoglobin and myoglobin. Here we report the discovery of a hitherto unrecognized family of proteins with a unique modular architecture, possessing an N-terminal calpain-like domain, an internal, circular permuted globin domain, and an IQ calmodulin-binding motif. Putative orthologs are present in the genomes of many metazoan taxa, including vertebrates. The calpain-like region is homologous to the catalytic domain II of the large subunit of human calpain-7. The glo…

MaleProtein subunitAmino Acid MotifsMolecular Sequence DataProtein domain610 Medicine & healthBiologyGenome10052 Institute of PhysiologyEvolution MolecularMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicine1311 GeneticsTestisGene expressionGenetics1312 Molecular BiologyAnimalsHumansGene familyAmino Acid SequenceGlobinBiologyMolecular BiologyGenePhylogenyEcology Evolution Behavior and Systematics030304 developmental biologyGenetics0303 health sciencesCalpainRecombinant ProteinsGlobinsProtein Structure TertiaryChemistry1105 Ecology Evolution Behavior and SystematicsMyoglobinchemistryMultigene Family10076 Center for Integrative Human Physiology570 Life sciences; biologyCalmodulin-Binding ProteinsHuman medicineSequence Alignment030217 neurology & neurosurgeryResearch Article
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