Search results for "Signal Transduction"

showing 10 items of 2020 documents

TCTN3 Mutations Cause Mohr-Majewski Syndrome

2012

Orofaciodigital syndromes (OFDSs) consist of a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of 13 OFDS subtypes. Here, by a combined approach of homozygozity mapping and exome ciliary sequencing, we identified truncating TCTN3 mutations as the cause of an extreme form of OFD associated with bone dysplasia, tibial defect, cystic kidneys, and brain anomalies (OFD IV, Mohr-Majewski syndrome). Analysis of 184 individuals with various ciliopathies (OFD, Meckel, Joubert, and short rib polydactyly syndromes) led us to identify four additional truncating TCTN3 mutations in un…

AdolescentFoot Deformities CongenitalMolecular Sequence DataCiliopathiesJoubert syndromeYoung AdultFetusReportCerebellumGLI3medicineGeneticsHumansExomeHedgehog ProteinsGenetics(clinical)Sonic hedgehogChildExomeGenetics (clinical)Adaptor Proteins Signal TransducingCystic kidneyGeneticsBase SequencebiologyHomozygoteIntracellular Signaling Peptides and ProteinsMembrane ProteinsCiliary transition zoneSequence Analysis DNAOrofaciodigital Syndromesmedicine.diseaseCleft PalateCiliopathyPhenotypeMutationbiology.proteinApoptosis Regulatory ProteinsHand Deformities CongenitalSignal TransductionThe American Journal of Human Genetics
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Research in practice: Regulatory T cells - targets for therapeutic approaches?

2010

• regulatory T cells • tolerance • signal transduction • autoimmunity • allergies • cancer Summary Regulatory T cells (Tregs) are essential for induction and maintenance of immunological tolerance. They contribute to prevention of autoimmunity by control and modulation of immune responses. The prevalence of autoimmune diseases, chronic infections, cancer and allergies has markedly increased in the last decades. In additions the treatment of these disorders is often unsatisfactory so that improvements are needed. This has stimulated intensive research in the biology of Tregs. Recent studies revealed that naturally occurring CD4 + CD25 + Tregs (nTregs) and induced Tregs (iTregs) are critical …

Adoptive cell transferEffectorCancerhemic and immune systemschemical and pharmacologic phenomenaDermatologyBiologymedicine.disease_causemedicine.diseaselaw.inventionAutoimmunityImmune systemlawImmunologymedicineSuppressorIL-2 receptorSignal transductionJDDG: Journal der Deutschen Dermatologischen Gesellschaft
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Contribution of IL-17-producing {gamma}{delta} T cells to the efficacy of anticancer chemotherapy.

2011

IL-17 production by γδ T cells is required for tumor cell infiltration by IFN-γ–producing CD8+ T cells and inhibition of tumor growth in response to anthracyclines.

Adoptive cell transferMESH : AgedMESH : Equipment DesignCD8-Positive T-LymphocytesMESH: CatheterizationInterleukin-23MESH: Long-Term CareMice0302 clinical medicineMESH : CatheterizationT-Lymphocyte SubsetsMESH: NursingImmunology and Allergy[ SDV.IMM ] Life Sciences [q-bio]/ImmunologyInterferon gammaMESH: Quality of Health CareMESH: Professional Review OrganizationsMESH: AgedMESH : Gels0303 health sciencesMice Inbred BALB CCell DeathInterleukin-17MESH : Methylene BlueMESH : Quality of Health CareReceptors Antigen T-Cell gamma-deltaChemotherapy regimenMESH: Transplantation Autologous3. Good healthMESH: Cosmetic TechniquesTreatment Outcomemedicine.anatomical_structureMESH : Cadaver[SDV.IMM]Life Sciences [q-bio]/ImmunologyImmunogenic cell deathSarcoma ExperimentalInterleukin 17MESH : DissectionMESH : Long-Term CareMESH: Nursing CareMESH: Adipose Tissuemedicine.drugSignal TransductionMESH : Transplantation Autologous[SDV.IMM] Life Sciences [q-bio]/ImmunologyMESH : Feasibility StudiesMESH: GelsT cellMESH : MaleImmunologyMESH: DissectionAntineoplastic AgentsBiologyMESH : NursingMESH : Adipose TissueArticleMESH : Facial Muscles03 medical and health sciencesInterferon-gammaLymphocytes Tumor-InfiltratingImmune systemAntigenCell Line TumorMESH: Patient Care PlanningmedicineMESH: CadaverAnimalsMESH : Patient Care Planning030304 developmental biologyMESH: Humansbusiness.industryMESH: Facial MusclesT-cell receptorMESH : HumansCorrectionMESH: MaleMice Inbred C57BLMESH : Cosmetic TechniquesDoxorubicinImmunologyCancer researchMESH : Nursing CareMESH : Professional Review OrganizationsbusinessMESH: Feasibility StudiesCD8030215 immunologyMESH: Methylene BlueMESH: Equipment Design
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Coexpression of TGF-β1 and IL-10 Enables Regulatory T Cells to Completely Suppress Airway Hyperreactivity

2008

Abstract In allergic airway disease, Treg may play an important role in the modulation of airway hyperreactivity (AHR) and inflammation. We therefore investigated the therapeutic potential of Treg in an Ag-dependent murine asthma model. We here describe that AHR can be completely suppressed by adoptive transfer of Treg overexpressing active TGF-β1. Using mice with impaired TGF-β signaling in T cells, we could demonstrate that TGF-β signaling in recipient effector T cells or transferred Treg themselves is not required for the protective effects on AHR. However, the expression of IL-10 by Treg was found to be essential for the suppression of AHR, since Treg overexpressing active TGF-β1 but de…

Adoptive cell transferTransgeneImmunologyGene ExpressionMice Transgenicchemical and pharmacologic phenomenaInflammationT-Lymphocytes RegulatoryTransforming Growth Factor beta1MiceRespiratory HypersensitivitymedicineAnimalsImmunology and AllergyAsthmaInflammationbusiness.industryEffectorhemic and immune systemsrespiratory systemmedicine.diseaseAdoptive TransferAirway hyperreactivityInterleukin-10respiratory tract diseasesDisease Models AnimalInterleukin 10Immunologymedicine.symptombusinessSignal TransductionTransforming growth factorThe Journal of Immunology
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Triple negative breast cancer: shedding light onto the role of pi3k/akt/mtor pathway

2016

// Daniela Massihnia 1,* , Antonio Galvano 1,* , Daniele Fanale 1 , Alessandro Perez 1 , Marta Castiglia 1 , Lorena Incorvaia 1 , Angela Listi 1 , Sergio Rizzo 1 , Giuseppe Cicero 1 , Viviana Bazan 1 , Sergio Castorina 2,3,** and Antonio Russo 1,** 1 Department of Surgical, Oncological and Oral Sciences, Section of Medical Oncology, University of Palermo, Palermo, Italy 2 Fondazione Mediterranea “G.B. Morgagni”, Catania, Italy 3 Department of Biomedical and Biotechnological Sciences, University of Catania, Catania, Italy * These authors have contributed equally to this work ** Both the authors are last name Correspondence to: Antonio Russo, email: // Keywords : ER, HER2, PI3K/AKT/mTOR inhib…

Adult0301 basic medicineOncologymedicine.medical_specialtyPathologyAntineoplastic AgentsTriple Negative Breast NeoplasmsReviewTarget therapyPhosphatidylinositol 3-Kinases03 medical and health sciences0302 clinical medicineBreast cancerHER2Internal medicineDrug DiscoverymedicineCarcinomaHumansTriple negative breast cancerTarget therapyER; HER2; PI3K/AKT/mTOR inhibitor; Target therapy; Triple negative breast cancer; OncologySurvival rateProtein kinase BPI3K/AKT/mTOR pathwayTriple-negative breast cancerAgedClinical Trials as Topicbusiness.industryTOR Serine-Threonine KinasesAge FactorsMiddle Agedmedicine.diseaseOncogene Protein v-aktClinical trial030104 developmental biologyEROncology030220 oncology & carcinogenesisFemalePI3K/AKT/mTOR inhibitorbusinessSignal TransductionOncotarget
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Association of Klotho Polymorphisms with Healthy Aging: A Systematic Review and Meta-Analysis

2013

Today it is clearly evident that genetic background constitutes an integral part of aging and longevity. Many studies on long-lived people have been conducted emphasizing the role of certain genes in long life. Classic case-control studies, genome-wide association studies, and high-throughput sequencing have permitted identification of a variety of genetic variants seemingly associated with longevity. Over the years, aging research has focused on the insulin/insulin-like growth factor-1 (IGF-1) signaling pathway because of its evolutionarily conserved correlation with life-span extension in model animals. Indeed, many single-nucleotide polymorphisms (SNPs) associated with longevity were ide…

AdultAgingmedia_common.quotation_subjectGenome-wide association studySingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideYoung AdultHumansGenetic Predisposition to DiseaseKlotho ProteinsKlothoGeneAgedGlucuronidasemedia_commonGenetic associationLongevity Ageing Klotho Meta-AnalysisSettore MED/04 - Patologia GeneraleAged 80 and overGeneticsInfant NewbornLongevityInfantMiddle AgedMembrane proteinHealthCase-Control StudiesGeriatrics and GerontologySignal transductionGenome-Wide Association StudyRejuvenation Research
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SHIP2: A “NEW” Insulin Pathway Target for Aging Research

2014

Strong evidence suggests that systemic inflammation and central adiposity contribute to and perpetuate metabolic syndrome. All of these alterations predispose individuals to type 2 diabetes mellitus (T2DM), cardiovascular disease, as well as Alzheimer's disease (AD), all characterized by chronic inflammatory status. On the other hand, extensive abnormalities in insulin and insulin-like growth factor I (IGF-I) and IGF-II signaling mechanisms in brains with AD have been demonstrated, suggesting that AD could be a third form of diabetes. The Src homology domain-containing inositol 5-phosphatase 2 (SHIP2) has an important role in the insulin pathway because its over-expression causes impairment…

AdultAgingmedicine.medical_specialtymedicine.medical_treatmentDiseaseBiologySystemic inflammationPolymorphism Single Nucleotidepolymorphismchemistry.chemical_compounddomain-containing inositol 5-phosphatase 2 (SHIP2) insulin-like growth factor I (IGF-I) type 2 diabetes mellitus (T2DM)INFLAMMATIONGene FrequencyAlzheimer DiseaseDiabetes mellitusInternal medicinemedicineHumansInsulinSettore MED/05 - Patologia ClinicaSNPInositolAgedSettore MED/04 - Patologia GeneraleALZHEIMER’S DISEASEResearchInsulinInositol Polyphosphate 5-PhosphatasesNEURODEGENERATIONType 2 Diabetes Mellitusmedicine.diseasePhosphoric Monoester HydrolasesEndocrinologyDiabetes Mellitus Type 2chemistryImmunologySettore MED/26 - NeurologiaGeriatrics and Gerontologymedicine.symptomMetabolic syndromeSignal TransductionRejuvenation Research
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Histone deacetylase inhibition by suberoylanilide hydroxamic acid: a therapeutic approach to treat human uterine leiomyoma.

2022

Objective To evaluate the effect of inhibition of histone deacetylases (HDACs) by suberoylanilide hydroxamic acid (SAHA) treatment of human uterine leiomyoma primary (HULP) cells in vitro on cell proliferation, cell cycle, extracellular matrix (ECM) formation, and transforming growth factor β3 (TGF-β3) signaling. Design Prospective study comparing uterine leiomyoma (UL) vs. adjacent myometrium (MM) tissue and cells with or without SAHA treatment. Setting Hospital and university laboratories. Patient(s) Women with UL without any hormone treatment. Intervention(s) Myomectomy or hysterectomy surgery in women for leiomyoma disease. Main Outcome Measure(s) HDAC activity was assessed by enzyme-li…

AdultAntineoplastic AgentsHistone Deacetylase 1MMP9Histone Deacetylase 6Histone DeacetylasesCyclin D1Transforming Growth Factor beta3Cell proliferation SAHA ULS-ß3 pathway extracellular matrix uterine leiomyomaTumor Cells CulturedHumansViability assayProspective StudiesCell ProliferationVorinostatbiologyLeiomyomaChemistryCell growthCell CycleObstetrics and GynecologyCell cycleMiddle AgedHDAC3Molecular biologyProliferating cell nuclear antigenExtracellular MatrixGene Expression Regulation NeoplasticHistone Deacetylase InhibitorsReproductive MedicineUterine Neoplasmsbiology.proteinFemaleHistone deacetylaseSignal TransductionFertility and sterility
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Azathioprine suppresses ezrin-radixin-moesin-dependent T cell-APC conjugation through inhibition of Vav guanosine exchange activity on rac proteins

2006

Abstract We have shown recently that the azathioprine metabolite 6-Thio-GTP causes immunosuppression by blockade of GTPase activation in T lymphocytes. In the present study, we describe a new molecular mechanism by which 6-Thio-GTP blocks GTPase activation. Although 6-Thio-GTP could bind to various small GTPases, it specifically blocked activation of Rac1 and Rac2 but not of closely related Rho family members such as Cdc42 and RhoA in primary T cells upon stimulation with αCD28 or fibronectin. Binding of 6-Thio-GTP to Rac1 did not suppress Rac effector coupling directly but blocked Vav1 exchange activity upon 6-Thio-GTP hydrolysis, suggesting that 6-Thio-GTP loading leads to accumulation of…

AdultCD4-Positive T-LymphocytesVAV1RHOAT cellImmunologyBlotting WesternAntigen-Presenting CellsFluorescent Antibody TechniqueRAC1ApoptosisEnzyme-Linked Immunosorbent AssayGTPaseCell CommunicationBiologyArticleAzathioprinemedicineImmunology and AllergyHumansAntigen-presenting cellProto-Oncogene Proteins c-vavNeurofibromin 2Flow CytometryMolecular biologyCell biologyrac GTP-Binding ProteinsRac GTP-Binding ProteinsEnzyme Activationmedicine.anatomical_structurebiology.proteinSignal transductionImmunosuppressive Agents
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Combination of the mTOR inhibitor ridaforolimus and the anti-IGF1R monoclonal antibody dalotuzumab: preclinical characterization and phase I clinical…

2014

Abstract Purpose: Mammalian target of rapamycin (mTOR) inhibition activates compensatory insulin–like growth factor receptor (IGFR) signaling. We evaluated the ridaforolimus (mTOR inhibitor) and dalotuzumab (anti-IGF1R antibody) combination. Experimental Design: In vitro and in vivo models, and a phase I study in which patients with advanced cancer received ridaforolimus (10–40 mg/day every day × 5/week) and dalotuzumab (10 mg/kg/week or 7.5 mg/kg/every other week) were explored. Results: Preclinical studies demonstrated enhanced pathway inhibition with ridaforolimus and dalotuzumab. With 87 patients treated in the phase I study, main dose-limiting toxicities (DLT) of the combination were p…

AdultCancer ResearchPhases of clinical researchBreast NeoplasmsPharmacologyAntibodies Monoclonal HumanizedArticleReceptor IGF Type 1Ridaforolimuschemistry.chemical_compoundBreast cancerIn vivoAntineoplastic Combined Chemotherapy ProtocolsMedicineAnimalsHumansPI3K/AKT/mTOR pathwayInsulin-like growth factor 1 receptorAgedSirolimusDalotuzumabbusiness.industryTOR Serine-Threonine KinasesAntibodies MonoclonalReceptors SomatomedinMiddle Agedmedicine.diseaseXenograft Model Antitumor AssaysOncologychemistryMonoclonalbusinessSignal TransductionClinical cancer research : an official journal of the American Association for Cancer Research
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