Search results for " Glycoproteins"

showing 10 items of 329 documents

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

2016

International audience; Learning disabilities (LDs) are a clinically and genetically heterogeneous group of diseases. Array-CGH and high-throughput sequencing have dramatically expanded the number of genes implicated in isolated intellectual disabilities and LDs, highlighting the implication of neuron-specific post-mitotic transcription factors and synaptic proteins as candidate genes. We report a unique family diagnosed with autosomal dominant learning disability and a 6p21 microdeletion segregating in three patients. The 870 kb microdeletion encompassed the brain-expressed gene LRFN2, which encodes for a synaptic cell adhesion molecule. Neuropsychological assessment identified selective w…

0301 basic medicineMaleCandidate genefamilyspeechHippocampal formationRats Sprague-Dawley0302 clinical medicineBorderline intellectual functioningNeuropsychological assessmentChilddisordersGenetics (clinical)Cells Culturedadhesion-like moleculesMembrane Glycoproteinsmedicine.diagnostic_testLearning DisabilitiesBrainMagnetic Resonance Imaging3. Good healthPedigreeMemory Short-TermBrain sizeFemaleAdultHeterozygotenmda receptorautismNerve Tissue ProteinsBiologyReceptors N-Methyl-D-AspartateArticle03 medical and health sciencesFluorodeoxyglucose F18[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyexpressionGeneticsmedicineAnimalsHumansMemory DisorderslanguageGenetic heterogeneityWorking memoryMembrane Proteinsdown-syndromeRats030104 developmental biologyEndophenotypePositron-Emission TomographySynapsesshort-termRadiopharmaceuticalsNeuroscience030217 neurology & neurosurgeryGene Deletion[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
researchProduct

IFI16 reduced expression is correlated with unfavorable outcome in chronic lymphocytic leukemia.

2017

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. Its clinical course is typically indolent; however, based on a series of pathobiological, clinical, genetic, and phenotypic parameters, patient survival varies from less than 5 to more than 20 years. In this paper, we show for the first time that the expression of the interferon-inducible DNA sensor IFI16, a member of the PYHIN protein family involved in proliferation inhibition and apoptosis regulation, is associated with the clinical outcome in CLL. We studied 99 CLLs cases by immunohistochemistry and 10 CLLs cases by gene expression profiling. We found quite variable degrees of IFI16 expression among CLLs cases. No…

0301 basic medicineMaleChronic lymphocytic leukemiaGene Expressionhemic and lymphatic diseasesGene expression80 and overImmunology and AllergyChronicNuclear ProteinCD20Aged 80 and overLeukemiaMembrane GlycoproteinsZAP-70 Protein-Tyrosine KinasebiologyZAP70Nuclear ProteinsGeneral MedicineMiddle AgedPhenotypeImmunohistochemistryLymphocyticchronic lymphocytic leukemia; gene expression; IFI16; immunohistochemistry; prognosis; ZAP70; Adult; Aged; Aged 80 and over; Antigens CD38; Female; Gene Expression Profiling; Humans; Immunohistochemistry; Leukemia Lymphocytic Chronic B-Cell; Male; Membrane Glycoproteins; Middle Aged; Nuclear Proteins; Phosphoproteins; Treatment Outcome; Young Adult; ZAP-70 Protein-Tyrosine Kinase; Gene Expression; Immunology and Allergy; 2734; Microbiology (medical)LeukemiaTreatment OutcomePhosphoproteinimmunohistochemistryImmunohistochemistryZAP70FemaleMembrane GlycoproteinprognosiHumanMicrobiology (medical)Adult2734IFI16; ZAP70; chronic lymphocytic leukemia; gene expression; immunohistochemistry; prognosisNOPathology and Forensic Medicine03 medical and health sciencesYoung AdultmedicineHumansAntigensIFI16Agedbusiness.industryGene Expression ProfilingB-Cellchronic lymphocytic leukemia; gene expression; IFI16; immunohistochemistry; prognosis; ZAP70; ADP-ribosyl Cyclase 1; Adult; Aged; Aged 80 and over; Female; Gene Expression Profiling; Humans; Immunohistochemistry; Leukemia Lymphocytic Chronic B-Cell; Male; Membrane Glycoproteins; Middle Aged; Nuclear Proteins; Phosphoproteins; Treatment Outcome; Young Adult; ZAP-70 Protein-Tyrosine Kinase; Gene Expression; 2734; Immunology and Allergy; Microbiology (medical)medicine.diseasePhosphoproteinsADP-ribosyl Cyclase 1Leukemia Lymphocytic Chronic B-CellGene expression profilingchronic lymphocytic leukemia; gene expression; IFI16; immunohistochemistry; prognosis; ZAP70; Immunology and Allergy; 2734; Microbiology (medical)030104 developmental biologygene expressionCancer researchbiology.proteinchronic lymphocytic leukemiaprognosisbusinessCD38APMIS : acta pathologica, microbiologica, et immunologica Scandinavica
researchProduct

The TrkB agonist 7,8-dihydroxyflavone changes the structural dynamics of neocortical pyramidal neurons and improves object recognition in mice

2018

This is a pre-print of an article published in Brain Structure and Function. The final authenticated version is available online at: https://doi.org/10.1007/s00429-018-1637-x. BDNF and its receptor TrkB have important roles in neurodevelopment, neural plasticity, learning, and memory. Alterations in TrkB expression have been described in different CNS disorders. Therefore, drugs interacting with TrkB, specially agonists, are promising therapeutic tools. Among them, the recently described 7,8-dihydroxyflavone (DHF), an orally bioactive compound, has been successfully tested in animal models of these diseases. Recent studies have shown the influence of this drug on the structure of pyramidal …

0301 basic medicineMaleDendritic spineTrkB receptorNeocortexTropomyosin receptor kinase B78-Dihydroxyflavoneaxonal dynamicsMice0302 clinical medicineReceptorMembrane GlycoproteinsGeneral NeurosciencePyramidal CellsProtein-Tyrosine Kinases2-Photonbarrel cortexFemaleMicrogliaAnatomyAgonistHistologymedicine.drug_classDendritic SpinesMice TransgenicBiologyspine dynamicsrecognition memory03 medical and health sciencesBacterial ProteinsNeuroplasticitymedicinepyramidal neuronAnimalsMaze LearningParenchymal TissueRecognition memoryAnalysis of VarianceRecognition PsychologyBarrel cortexFlavonesAxonsLuminescent Proteins030104 developmental biologynervous systemAstrocytesen passant boutonsThy-1 AntigensNeuroscience030217 neurology & neurosurgery
researchProduct

Repurposing of the Antiepileptic Drug Levetiracetam to Restrain Neuroendocrine Prostate Cancer and Inhibit Mast Cell Support to Adenocarcinoma

2021

A relevant fraction of castration-resistant prostate cancers (CRPC) evolve into fatal neuroendocrine (NEPC) tumors in resistance to androgen deprivation and/or inhibitors of androgen receptor pathway. Therefore, effective drugs against both CRPC and NEPC are needed. We have previously described a dual role of mast cells (MCs) in prostate cancer, being capable to promote adenocarcinoma but also to restrain NEPC. This finding suggests that a molecule targeting both MCs and NEPC cells could be effective against prostate cancer. Using an in silico drug repurposing approach, here we identify the antiepileptic drug levetiracetam as a potential candidate for this purpose. We found that the protein…

0301 basic medicineMaleLevetiracetammast cellsneuroendocrine differentiationNeuroendocrine differentiationCell DegranulationAndrogen deprivation therapyProstate cancer0302 clinical medicineTumor Cells CulturedImmunology and AllergySV2AOriginal ResearchMembrane Glycoproteinsdrug repurposingCell Differentiationprostate cancerGene Expression Regulation NeoplasticMatrix Metalloproteinase 9030220 oncology & carcinogenesisAdenocarcinomaAnticonvulsantsLevetiracetammedicine.druglcsh:Immunologic diseases. AllergyImmunologyAntineoplastic AgentsMice TransgenicNerve Tissue Proteins03 medical and health sciencesmedicineAnimalsHumanstumor microenvironmentmouse modelsHigh-grade prostatic intraepithelial neoplasiadrug repurposing; mast cells; mouse models; neuroendocrine differentiation; prostate cancer; tumor microenvironmentCell Proliferationbusiness.industryDrug RepositioningProstatic NeoplasmsNeoplasms Experimentalmedicine.diseaseCarcinoma Neuroendocrinedrug repurposing mast cells mouse models neuroendocrine differentiation prostate cancer tumor microenvironmentAndrogen receptorMice Inbred C57BL030104 developmental biologyCancer researchlcsh:RC581-607business
researchProduct

Limited proteolysis by acrosin affects sperm-binding and mechanical resilience of the mouse zona pellucida.

2021

Abstract The encounter of oocyte and sperm is the key event initiating embryonic development in mammals. Crucial functions of this existential interaction are determined by proteolytic enzymes, such as acrosin, carried in the sperm head acrosome, and ovastacin, stored in the oocyte cortical granules. Ovastacin is released upon fertilisation to cleave the zona pellucida, a glycoprotein matrix surrounding the oocyte. This limited proteolysis hardens the oocyte envelope, and thereby provides a definitive block against polyspermy and protects the developing embryo. On the other hand, acrosin, the renowned and most abundant acrosomal protease, has been thought to enable sperm to penetrate the oo…

0301 basic medicineMaleendocrine systemEmbryologyBiologyZona Pellucida Glycoproteins03 medical and health sciencesMice0302 clinical medicineGeneticsmedicineAnimalsAcrosomeZona pellucidaMolecular Biologyreproductive and urinary physiologyFertilisationZona PellucidaMammalsSperm-Ovum InteractionsAcrosinurogenital systemProteolytic enzymesObstetrics and GynecologyCell BiologyPolyspermyAcrosinOocyteSpermSpermatozoaCell biology030104 developmental biologymedicine.anatomical_structureReproductive Medicineembryonic structuresProteolysisAcrosome030217 neurology & neurosurgeryDevelopmental BiologyMolecular human reproduction
researchProduct

Positive Role of the MHC Class-I Antigen Presentation Regulator m04/gp34 of Murine Cytomegalovirus in Antiviral Protection by CD8 T Cells

2020

Murine cytomegalovirus (mCMV) codes for MHC class-I trafficking modulators m04/gp34, m06/gp48, and m152/gp40. By interacting with the MHC class-Iα chain, these proteins disconnect peptide-loaded MHC class-I (pMHC-I) complexes from the constitutive vesicular flow to the cell surface. Based on the assumption that all three inhibit antigen presentation, and thus the recognition of infected cells by CD8 T cells, they were referred to as “immunoevasins.” Improved antigen presentation mediated by m04 in the presence of m152 after infection with deletion mutant mCMV-Δm06W, compared to mCMV-Δm04m06 expressing only m152, led us to propose renaming these molecules “viral regulators of antigen present…

0301 basic medicineMicrobiology (medical)BAC mutagenesisMuromegalovirusAdoptive cell transfer030106 microbiologyImmunologyAntigen presentationMutantlcsh:QR1-502CD8 T cellsPeptide bindingCD8-Positive T-LymphocytesMajor histocompatibility complexAntiviral AgentsMicrobiologylcsh:MicrobiologyMiceViral Proteins03 medical and health sciencesCellular and Infection MicrobiologyMHC class IAnimalsCytotoxic T cellnext-generation sequencing (NGS)adoptive cell transferimmune evasionAntigen PresentationMembrane GlycoproteinsbiologyMHC class I antigenHistocompatibility Antigens Class IimmunoevasinBrief Research ReportCell biology030104 developmental biologyInfectious Diseasesbiology.proteinrecombinant virusFrontiers in Cellular and Infection Microbiology
researchProduct

Notch and TLR signaling coordinate monocyte cell fate and inflammation

2020

AbstractConventional Ly6Chi monocytes have developmental plasticity for a spectrum of differentiated phagocytes. Here we show, using conditional deletion strategies in a mouse model of Toll-like receptor (TLR) 7-induced inflammation, that the spectrum of developmental cell fates of Ly6Chi monocytes, and the resultant inflammation, is coordinately regulated by TLR and Notch signaling. Cell-intrinsic Notch2 and TLR7-Myd88 pathways independently and synergistically promote Ly6Clo patrolling monocyte development from Ly6Chi monocytes under inflammatory conditions, while impairment in either signaling axis impairs Ly6Clo monocyte development. At the same time, TLR7 stimulation in the absence of …

0301 basic medicineMouseQH301-705.5ScienceNotch signaling pathwayInflammationSpleenBiologyCell fate determinationSystemic inflammationGeneral Biochemistry Genetics and Molecular BiologyMonocytesimmunology03 medical and health sciencesMice0302 clinical medicineImmunology and InflammationmedicineAnimalsReceptor Notch2Biology (General)Receptormousemacrophage differentiationInflammationMembrane GlycoproteinsGeneral Immunology and MicrobiologyGeneral NeuroscienceMonocyteQRCell DifferentiationTLR signalingGeneral MedicineTLR7notch signalingCell biology030104 developmental biologymedicine.anatomical_structureToll-Like Receptor 7inflammationmonocytes and macrophagesMedicinemedicine.symptom030215 immunologySignal TransductionResearch Article
researchProduct

New functions of Semaphorin 3E and its receptor PlexinD1 during developing and adult hippocampal formation

2018

AbstractThe development and maturation of cortical circuits relies on the coordinated actions of long and short range axonal guidance cues. In this regard, the class 3 semaphorins and their receptors have been seen to be involved in the development and maturation of the hippocampal connections. However, although the role of most of their family members have been described, very few data about the participation of Semaphorin 3E (Sema3E) and its receptor PlexinD1 during the development and maturation of the entorhino-hippocampal (EH) connection are available. In the present study, we focused on determining their roles both during development and in adulthood. We determined a relevant role for…

0301 basic medicineNeurobiologia del desenvolupamentScienceHippocampusNerve Tissue ProteinsSemaphorinsBiologyHippocampal formationHippocampusArticle03 medical and health sciencesMice0302 clinical medicineSemaphorinmedicineAnimalsDevelopmental neurobiologyProgenitor cellReceptorCells CulturedGlycoproteinsNeuronsMultidisciplinaryMembrane GlycoproteinsHippocampus properDentate gyrusQRIntracellular Signaling Peptides and ProteinsGene Expression Regulation DevelopmentalMembrane ProteinsProteinsEmbryonic stem cellCytoskeletal Proteins030104 developmental biologymedicine.anatomical_structurenervous systemMutationMedicineNeuroscienceProteïnes030217 neurology & neurosurgerySignal Transduction
researchProduct

Evidence of the Red-Queen Hypothesis from Accelerated Rates of Evolution of Genes Involved in Biotic Interactions in Pneumocystis.

2018

Pneumocystis species are ascomycete fungi adapted to live inside the lungs of mammals. These ascomycetes show extensive stenoxenism, meaning that each species of Pneumocystis infects a single species of host. Here, we study the effect exerted by natural selection on gene evolution in the genomes of three Pneumocystis species. We show that genes involved in host interaction evolve under positive selection. In the first place, we found strong evidence of episodic diversifying selection in Major surface glycoproteins (Msg). These proteins are located on the surface of Pneumocystis and are used for host attachment and probably for immune system evasion. Consistent with their function as antigen…

0301 basic medicineNonsynonymous substitutionGenome evolutionNatural selectionESTADISTICA E INVESTIGACION OPERATIVA030106 microbiologyBiologyEvolution MolecularFungal Proteins03 medical and health sciencesGene Expression Regulation FungalBIOQUIMICA Y BIOLOGIA MOLECULARGeneticsMajors surface glycoproteinsSelection GeneticGeneEcology Evolution Behavior and SystematicsStenoxenismGeneticsFungal proteinNatural selectionMembrane GlycoproteinsPneumocystisFungal geneticsBiota3. Good healthGlycosylphosphatidylinositol030104 developmental biologyRed Queen hypothesisFunction (biology)Research Article
researchProduct

A targeted proteomics investigation of the obesity paradox in venous thromboembolism

2021

Abstract The obesity paradox, the controversial finding that obesity promotes disease development but protects against sequelae in patients, has been observed in venous thromboembolism (VTE). The aim of this investigation was to identify a body mass–related proteomic signature in VTE patients and to evaluate whether this signature mediates the obesity paradox in VTE patients. Data from the Genotyping and Molecular Phenotyping in Venous ThromboEmbolism Project, a prospective cohort study of 693 VTE patients, were analyzed. A combined end point of recurrent VTE or all-cause death was used. Relative quantification of 444 proteins was performed using high-throughput targeted proteomics technolo…

0301 basic medicineOncologyProteomicsmedicine.medical_specialtyDisease030204 cardiovascular system & hematologyThrombosis and Hemostasis03 medical and health sciences0302 clinical medicineRisk FactorsInternal medicinemedicineHumansLectins C-Typecardiovascular diseasesObesityProspective StudiesReceptors ImmunologicProspective cohort studyGenotypingMembrane Glycoproteinsbusiness.industryLeptinHazard ratioHematologyVenous Thromboembolismmedicine.diseaseObesityConfidence interval030104 developmental biologyMatrix Metalloproteinase 2businessObesity paradox
researchProduct