Search results for " Transcription factor"

showing 10 items of 656 documents

Pulmonary Adenocarcinoma With Enteric Differentiation: Immunohistochemistry and Molecular Morphology

2018

Pulmonary adenocarcinoma with enteric differentiation (PAED) is a rare subtype of lung adenocarcinoma recently recognized in the WHO classification. It is defined as an adenocarcinoma in which the enteric component exceeds 50% and have to show the expression of at least 1 immunohistochemical marker of enteric differentiation. Although the definition of this tumor type is very important, above all in the differential diagnosis between a primary lung tumor and a metastasis of colorectal adenocarcinoma, this cancer still lacks a distinctive immunohistochemical and molecular signature. We recruited the largest series in the literature of PAEDs according to the morphology and the positivity for …

0301 basic medicinePathologymedicine.medical_specialtyLung NeoplasmsHistologyintestinal-type adenocarcinomaCellular differentiationDNA Mutational AnalysisThyroid Nuclear Factor 1AdenocarcinomaBiologymedicine.disease_causePathology and Forensic MedicineMetastasisDiagnosis DifferentialProto-Oncogene Proteins p21(ras)03 medical and health sciences0302 clinical medicineKRASBiomarkers TumormedicineHumansCDX2 Transcription FactorPathology Molecularenteric lung adenocarcinoma intestinal-type adenocarcinoma CDX-2 CDX2 KRASLungKeratin-7entericCancerCell DifferentiationPulmonary adenocarcinoma with enteric differentiation (PAED)lung adenocarcinomamedicine.diseaseCDX-2ImmunohistochemistryMedical Laboratory Technology030104 developmental biologymedicine.anatomical_structureCDX2Alveolar Epithelial Cells030220 oncology & carcinogenesisMutationAdenocarcinomaImmunohistochemistryKRASDifferential diagnosisColorectal Neoplasms
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Genetic Testing for Melanoma—Where Are We With Moderate-Penetrance Genes?

2016

International audience

0301 basic medicinePreimplantation genetic haplotypingSkin Neoplasmscdkn2aPenetranceDermatologypolicy statement update03 medical and health sciencesCDKN2ApredisposesmedicineHumansGenetic Predisposition to DiseaseGenetic Testingmitf germline mutationGeneMelanomaComputingMilieux_MISCELLANEOUSGenetic testingriskGeneticsmedicine.diagnostic_testbusiness.industryMelanomamedicine.diseaseMicrophthalmia-associated transcription factorcancer susceptibilityPenetrance030104 developmental biologyMutation (genetic algorithm)Mutationbusiness[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatologyamerican-society[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
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A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

2016

International audience; The etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvula…

0301 basic medicineProbandMaleCardiomyopathy22q11.2Disease030204 cardiovascular system & hematologyBioinformatics0302 clinical medicinede-novoEpidemiology3 large registriesGenetics (clinical)zic3 mutationsGeneticsHigh-Throughput Nucleotide Sequencing3. Good healthPedigreeHomeobox Protein Nkx-2.5malformationsFemaleepidemiologyHeart Defects Congenitalmedicine.medical_specialtyGenetic counselingArticle03 medical and health sciences[ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathologyMolecular geneticsGeneticsmedicineHumansMultiplex ligation-dependent probe amplificationGenetic TestingHomeodomain Proteinsdiseasebusiness.industryvariabilityGenetic Variationmedicine.diseaseGATA4 Transcription Factor030104 developmental biologyMutationEtiologycardiovascular defectsbusinessMultiplex Polymerase Chain Reactioncardiomyopathy[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyTranscription Factors
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Regulation of E2F1 Transcription Factor by Ubiquitin Conjugation

2017

IF 3.226; International audience; Ubiquitination is a post-translational modification that defines the cellular fate of intracellular proteins. It can modify their stability, their activity, their subcellular location, and even their interacting pattern. This modification is a reversible event whose implementation is easy and fast. It contributes to the rapid adaptation of the cells to physiological intracellular variations and to intracellular or environmental stresses. E2F1 (E2 promoter binding factor 1) transcription factor is a potent cell cycle regulator. It displays contradictory functions able to regulate both cell proliferation and cell death. Its expression and activity are tightly…

0301 basic medicineProgrammed cell deathReviewubiquitinationCatalysislcsh:ChemistryInorganic Chemistry03 medical and health sciencesUbiquitinAnimalsHumansE2F1Physical and Theoretical Chemistry[ SDV.BBM ] Life Sciences [q-bio]/Biochemistry Molecular Biologylcsh:QH301-705.5Molecular BiologyTranscription factorSpectroscopybiologyCell growthOrganic ChemistryE2F1 Transcription FactorGeneral MedicineCell cycleComputer Science ApplicationsCell biology030104 developmental biologyE2F1lcsh:Biology (General)lcsh:QD1-999biology.proteinDNA damagecell cycleE2F1 Transcription FactorIntracellularInternational Journal of Molecular Sciences
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E2F1 interacts with BCL-xL and regulates its subcellular localization dynamics to trigger cell death

2018

International audience; E2F1 is the main pro-apoptotic effector of the pRB-regulated tumor suppressor pathway by promoting the transcription of various pro-apoptotic proteins. We report here that E2F1 partly localizes to mitochondria, where it favors mitochondrial outer membrane permeabilization. E2F1 interacts with BCL-xL independently from its BH3 binding interface and induces a stabilization of BCL-xL at mitochondrial membranes. This prevents efficient control of BCL-xL over its binding partners, in particular over BAK resulting in the induction of cell death. We thus identify a new, non-BH3-binding regulator of BCL-xL localization dynamics that influences its anti-apoptotic activity.

0301 basic medicineProgrammed cell deathTranscription Geneticbcl-X ProteinRegulatorBcl-xL[SDV.CAN]Life Sciences [q-bio]/CancerBCL-xL mobilityMitochondrionBiochemistrylaw.invention[ SDV.CAN ] Life Sciences [q-bio]/CancerE2F1 Subject Category Autophagy & Cell Death03 medical and health sciences[SDV.CAN] Life Sciences [q-bio]/CancerlawBCL-2 familyCell Line TumorGeneticsJournal ArticleHumansE2F1Molecular BiologyCell DeathbiologyManchester Cancer Research CentreEffectorChemistryResearchInstitutes_Networks_Beacons/mcrcScientific ReportsapoptosisSubcellular localizationMitochondriaCell biologyProtein Transportbcl-2 Homologous Antagonist-Killer Protein030104 developmental biologyGene Expression RegulationProto-Oncogene Proteins c-bcl-2biology.proteinSuppressorbiological phenomena cell phenomena and immunityExtracellular SpaceE2F1 Transcription FactorProtein Binding
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Lack of NFATc1 SUMOylation prevents autoimmunity and alloreactivity

2020

A novel transgenic mouse, in which the transcription factor NFATc1 bears lysine-to-arginine mutations that prevent modification by SUMO, develops normally and is healthy. However, SUMO-insensitive NFATc1 transmits strong tolerogenic signals, thus preventing autoimmune and alloimmune T cell responses.

0301 basic medicineProtein sumoylationEncephalomyelitis Autoimmune ExperimentalT cellStem Cells & RegenerationImmunologySUMO proteinAutoimmunityBiologyenvironment and public healthT-Lymphocytes RegulatoryArticleMinor Histocompatibility AntigensMice03 medical and health sciences0302 clinical medicineImmune systemNeuroinflammationAldesleukinSTAT5 Transcription FactormedicineAnimalsImmunology and AllergyTranscription factorMice Knockoutintegumentary systemNFATC Transcription FactorsExperimental autoimmune encephalomyelitisSumoylationNFATmedicine.diseaseCell biologyenzymes and coenzymes (carbohydrates)030104 developmental biologymedicine.anatomical_structureProto-Oncogene Proteins c-bcl-2030220 oncology & carcinogenesisCytokinesPositive Regulatory Domain I-Binding Factor 1Journal of Experimental Medicine
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Hypoxia‐induced non‐coding rnas controlling cell viability in cancer

2021

Hypoxia, a characteristic of the tumour microenvironment, plays a crucial role in cancer progression and therapeutic response. The hypoxia-inducible factors (HIF-1α, HIF-2α, and HIF-3α), are the master regulators in response to low oxygen partial pressure, modulating hypoxic gene expression and signalling transduction pathways. HIFs’ activation is sufficient to change the cell phenotype at multiple levels, by modulating several biological activities from metabolism to the cell cycle and providing the cell with new characteristics that make it more aggressive. In the past few decades, growing numbers of studies have revealed the importance of non-coding RNAs (ncRNAs) as molecular mediators i…

0301 basic medicineRNA UntranslatedCellProliferationReviewlcsh:ChemistryTransduction (genetics)0302 clinical medicineNeoplasmsGene expressionBasic Helix-Loop-Helix Transcription FactorsTumor MicroenvironmentRNA NeoplasmHypoxialcsh:QH301-705.5SpectroscopyCancerGeneral MedicineCell cycleCell HypoxiaComputer Science ApplicationsCell biologyNeoplasm Proteinsmedicine.anatomical_structure030220 oncology & carcinogenesismiRNAscell cyclemedicine.symptomMiRNASignal TransductionCell SurvivallncRNAsBiologyCatalysisInorganic Chemistry03 medical and health sciencesmicroRNAmedicineHumansHIFViability assayPhysical and Theoretical ChemistryMolecular BiologyOrganic ChemistryCancerHypoxia (medical)medicine.diseaseLncRNA030104 developmental biologylcsh:Biology (General)lcsh:QD1-999
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A T cell-specific deletion of HDAC1 protects against experimental autoimmune encephalomyelitis.

2017

Multiple sclerosis (MS) is a human neurodegenerative disease characterized by the invasion of autoreactive T cells from the periphery into the CNS. Application of pan-histone deacetylase inhibitors (HDACi) ameliorates experimental autoimmune encephalomyelitis (EAE), an animal model for MS, suggesting that HDACi might be a potential therapeutic strategy for MS. However, the function of individual HDAC members in the pathogenesis of EAE is not known. In this study we report that mice with a T cell-specific deletion of HDAC1 (using the Cd4-Cre deleter strain; HDAC1-cKO) were completely resistant to EAE despite the ability of HDAC1cKO CD4+ T cells to differentiate into Th17 cells. RNA sequencin…

0301 basic medicineReceptors CCR6Encephalomyelitis Autoimmune ExperimentalMultiple SclerosisReceptors CCR4T cellImmunologyCCR4Histone Deacetylase 1C-C chemokine receptor type 6Biologymedicine.disease_causeAutoimmunity03 medical and health sciencesChemokine receptorMice0302 clinical medicineCell MovementmedicineImmunology and AllergyAnimalsHumansCells CulturedMice KnockoutChimeraMultiple sclerosisExperimental autoimmune encephalomyelitisGene targetingmedicine.diseaseMolecular biologyDisease Models Animal030104 developmental biologymedicine.anatomical_structureSTAT1 Transcription FactorCancer researchTh17 Cells030215 immunologyJournal of autoimmunity
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Sox8 and Sox10 jointly maintain myelin gene expression in oligodendrocytes

2017

In Schwann cells of the vertebrate peripheral nervous system, induction of myelination and myelin maintenance both depend on the HMG-domain-containing transcription factor Sox10. In oligodendrocytes of the central nervous system, Sox10 is also essential for the induction of myelination. Its role in late phases of myelination and myelin maintenance has not been studied so far. Here, we show that these processes are largely unaffected in mice that lack Sox10 in mature oligodendrocytes. As Sox10 is co-expressed with the related Sox8, we also analyzed oligodendrocytes and myelination in Sox8-deficient mice. Again, we could not detect any major abnormalities. Expression of many myelin genes was …

0301 basic medicineSOX10Central nervous systemGene ExpressionBiologyMice03 medical and health sciencesCellular and Molecular NeuroscienceMyelin0302 clinical medicineGene expressionmedicineAnimalsHumansCell LineageGeneMyelin SheathMice KnockoutSOXE Transcription FactorsHEK 293 cellsOligodendrocyteOligodendrogliaHEK293 Cells030104 developmental biologymedicine.anatomical_structurenervous systemNeurologyMyelin maintenanceembryonic structuresSchwann CellsNeuroscience030217 neurology & neurosurgeryHeLa CellsGlia
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Inhibition of STAT3 with the generation 2.5 antisense oligonucleotide, AZD9150, decreases neuroblastoma tumorigenicity and increases chemosensitivity

2017

Abstract Purpose: Neuroblastoma is a pediatric tumor of peripheral sympathoadrenal neuroblasts. The long-term event-free survival of children with high-risk neuroblastoma is still poor despite the improvements with current multimodality treatment protocols. Activated JAK/STAT3 pathway plays an important role in many human cancers, suggesting that targeting STAT3 is a promising strategy for treating high-risk neuroblastoma. Experimental Design: To evaluate the biologic consequences of specific targeting of STAT3 in neuroblastoma, we assessed the effect of tetracycline (Tet)-inducible STAT3 shRNA and the generation 2.5 antisense oligonucleotide AZD9150 which targets STAT3 in three representat…

0301 basic medicineSTAT3 Transcription FactorCancer Researchmedicine.disease_causeSmall hairpin RNA03 medical and health sciencesMiceNeuroblastoma0302 clinical medicineNeuroblastomaCell Line TumorOligonucleotidemedicineSTAT3CarcinogenesiCell ProliferationCisplatinAntineoplastic Combined Chemotherapy ProtocolbiologyCell growthAnimalCancerApoptosiOligonucleotides Antisensemedicine.diseaseXenograft Model Antitumor AssaysGene Expression Regulation Neoplastic030104 developmental biologyOncologyCell culture030220 oncology & carcinogenesisCancer researchbiology.proteinCisplatinCarcinogenesismedicine.drugHuman
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