Search results for "nuclear factor"

showing 10 items of 84 documents

Variable phenotype in 17q12 microdeletions: Clinical and molecular characterization of a new case

2014

Microdeletions of 17q12 including the hepatocyte nuclear factor 1 beta (HNF1B) gene, as well as point mutations of this gene, are associated with the Renal Cysts and Diabetes syndrome (RCAD, OMIM 137920) and genitourinary alterations. Also, microdeletions encompassing HNF1B were identified as a cause of Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH, OMIM 277000) in females and, recently, were associated with intellectual disability, autistic features, cerebral anomaly and facial dysmorphisms. In this report, we describe a boy with a deletion in 17q12 region detected by SNP array, encompassing the HNF1B gene, that showed dysmorphic features, intellectual disability (ID), serious speech delay…

MaleLIM-Homeodomain ProteinsSingle-nucleotide polymorphismHaploinsufficiencyBiologyBioinformaticsPolymorphism Single NucleotideIntellectual DisabilityIntellectual disabilityGeneticsmedicineHumansAbnormalities MultipleLanguage Development DisordersAutistic DisorderChildHNF1B 17q12 SNP array Renal Cysts and Diabetes syndrome Intellectual disabilityHepatocyte Nuclear Factor 1-betaGeneticsHaplotypeForkhead Transcription FactorsGeneral Medicinemedicine.diseaseHNF1BPenetrancePhenotypeHaplotypesSpeech delayFemalemedicine.symptomChromosome DeletionHaploinsufficiencySNP arrayAcetyl-CoA CarboxylaseChromosomes Human Pair 17Transcription Factors
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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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The murine nuclear orphan receptor GCNF is expressed in the XY body of primary spermatocytes

1998

AbstractWe have studied the expression of the nuclear orphan receptor GCNF (germ cell nuclear factor) on the mRNA and protein level in pubertal and adult mouse testes. We show by Northern and Western blot analyses and by in situ hybridization that GCNF is expressed in spermatocytes and round spermatids of adult mouse testis suggesting that GCNF may be a transcriptional regulator of spermatogenesis. Since the GCNF protein is accumulated in the XY body of late pachytene spermatocytes, it may be involved in transcriptional inactivation of sex chromosomes.

MaleTranscription GeneticGerm cell nuclear factorBiophysicsFluorescent Antibody TechniqueReceptors Cytoplasmic and NuclearIn situ hybridizationBiologyIn Vitro TechniquesGerm cell nuclear factorBiochemistryEpitheliumMiceWestern blotStructural BiologySpermatocytesNuclear Receptor Subfamily 6 Group A Member 1TestisGeneticsTranscriptional regulationmedicineAnimalsRNA MessengerRetinoid receptor-related testis-associated receptorSpermatogenesisMolecular BiologyOrphan receptorMessenger RNAMice Inbred BALB Cmedicine.diagnostic_testCell BiologyMolecular biologySpermatidsNeuron-derived orphan receptor 1DNA-Binding ProteinsGene Expression RegulationNuclear orphan receptorSpermatogenesisNeuronal cell nuclear factorXY bodyFEBS Letters
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Transcriptional activation of CYP2C9, CYP1A1, and CYP1A2 by hepatocyte nuclear factor 4alpha requires coactivators peroxisomal proliferator activated…

2006

Hepatocyte nuclear factor 4alpha (HNF4alpha) is a key transcription factor for the constitutive expression of cytochromes P450 (P450s) in the liver. However, human hepatoma HepG2 cells show a high level of HNF4alpha but express only marginal P450 levels. We found that the HNF4alpha-mediated P450 transcription in HepG2 is impaired by the low level of coactivators peroxisomal proliferator activated receptor-gamma coactivator 1alpha (PGC1alpha) and steroid receptor coactivator 1 (SRC1). Reporter assays with a chimeric CYP2C9-LUC construct demonstrated that the sole transfection of coactivators induced luciferase activity in HepG2 cells. In HeLa cells however, CYP2C9-LUC activity only significa…

MaleTranscriptional Activationendocrine systemBiologyResponse ElementsTransfectiondigestive systemAdenoviridaeNuclear Receptor Coactivator 1Cytochrome P-450 CYP1A2CoactivatorCytochrome P-450 CYP1A1HumansInsulinTranscription factorCells CulturedHeat-Shock ProteinsCytochrome P-450 CYP2C9Histone AcetyltransferasesPharmacologyTransfectionMiddle AgedMolecular biologyPeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaNuclear receptor coactivator 1Hepatocyte nuclear factorsHepatocyte Nuclear Factor 4Nuclear receptor coactivator 3Nuclear receptor coactivator 2HepatocytesMolecular MedicineFemaleAryl Hydrocarbon HydroxylasesChromatin immunoprecipitationHeLa CellsProtein BindingTranscription FactorsMolecular pharmacology
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Hepatocyte growth factor/hepatopoietin A is expressed in fat-storing cells from rat liver but not myofibroblast-like cells derived from fat-storing c…

1992

Hepatocyte growth factor/hepatopoietin A is a complete mitogen for parenchymal liver cells, and its expression is increased as an early response to acute liver injury. To identify the liver cell population responsible for hepatocyte growth factor gene expression, we investigated tissue sections and isolated and purified cell fractions from normal rat liver by in situ and Northern blot hybridization. Hepatocyte growth factor transcripts were present in sinusoidal liver cells, which were preferentially located in the periportal parenchyma. Northern hybridization analysis of RNA isolated from purified liver cell fractions demonstrated that HGF messenger RNA is present only in fat-storing cells…

Malemedicine.medical_specialtyTranscription Geneticmedicine.medical_treatmentGene ExpressionMESSENGER-RNA; MOLECULAR-CLONING; MARKED INCREASE; VITAMIN-A; PURIFICATION; COLLAGEN; SEQUENCE; STORAGE; GENESBiologyCell LineParacrine signallingInternal medicinemedicineAnimalsNorthern blotRNA MessengerGrowth SubstancesHepatologyHepatocyte Growth FactorGrowth factorLiver cellNucleic Acid HybridizationMuscle SmoothRats Inbred StrainsFibroblastsBlotting NorthernLipid MetabolismCell biologyRatsEndocrinologymedicine.anatomical_structureHepatocyte nuclear factor 4LiverCell cultureHepatocyteHepatocyte growth factormedicine.drug
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Mitochondrial dynamics in type 2 diabetes: Pathophysiological implications

2017

Mitochondria play a key role in maintaining cellular metabolic homeostasis. These organelles have a high plasticity and are involved in dynamic processes such as mitochondrial fusion and fission, mitophagy and mitochondrial biogenesis. Type 2 diabetes is characterised by mitochondrial dysfunction, high production of reactive oxygen species (ROS) and low levels of ATP. Mitochondrial fusion is modulated by different proteins, including mitofusin-1 (MFN1), mitofusin-2 (MFN2) and optic atrophy (OPA-1), while fission is controlled by mitochondrial fission 1 (FIS1), dynamin-related protein 1 (DRP1) and mitochondrial fission factor (MFF). PARKIN and (PTEN)-induced putative kinase 1 (PINK1) partici…

MiD51 mitochondrial dynamics proteins of 51 kDaΔΨm mitochondrial membrane potential0301 basic medicineMitochondrial fission factorClinical BiochemistryMitochondrial DegradationMFN2Review ArticleTXNIP thioredoxin interacting proteinMitochondrial DynamicsBiochemistryAdenosine TriphosphateGRP78 78 kDa glucose-regulated proteinMFF mitochondrial fission factorMFN2 mitofusin 2TRX2 thioredoxin 2Redox biologylcsh:QH301-705.5NF-κB nuclear factor kappa Blcsh:R5-920MitophagyType 2 diabetesDRP1 dynamin-related protein 1FIS1 fission protein 1BNIP3 BCL2/adenovirus E1B 19 kDa interacting protein 3MitochondriaOPA1 optic atrophy 1SIRT1/3 sirtuin 1/3Biochemistrymitochondrial fusionTGF-β1 transforming growth factor-β1Mitochondrial fissionOMM outer mitochondrial membranelcsh:Medicine (General)MiD49 mitochondrial dynamics proteins of 49Nox 4 NADPH oxidase-4IMM inner mitochondrial membraneFIS1ATF6 activating transcription factor 6PINK1mTOR mammalian target of rapamycinCHOP C/EBP homologous proteinBiologymdivi-1 mitochondrial division inhibitor-1Mitochondrial Proteins03 medical and health sciencesROS reactive oxygen speciessXBP1 spliced X-box binding protein 1UCP-1 uncoupling protein-1MFN1 mitofusin 1SOD superoxide dismutaseLC3 1 A/1B-light chain 3HumansPINK1 (PTEN)-induced putative kinase 1S3 15-OxospiramilactoneOrganic ChemistrymtDNA mitochondrial DNAAMPK AMP-activated protein kinase030104 developmental biologyDiabetes Mellitus Type 2Mitochondrial biogenesislcsh:Biology (General)Oxidative stressp38 MAPK p38 mitogen-activated protein kinasep62/SQSTM1 ubiquitin and sequestosome-1Reactive Oxygen SpeciesRedox Biology
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Activation induced by pore-forming bacterial toxins

2001

Microbiology (medical)Microbial toxinsPore-forming toxinInfectious DiseasesVirologyHemolysinBiologyMicrobiologyTranscription factorNuclear factor kappa bMicrobiologyTrends in Microbiology
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Redox signaling in acute pancreatitis

2015

Acute pancreatitis is an inflammatory process of the pancreatic gland that eventually may lead to a severe systemic inflammatory response. A key event in pancreatic damage is the intracellular activation of NF-κB and zymogens, involving also calcium, cathepsins, pH disorders, autophagy, and cell death, particularly necrosis. This review focuses on the new role of redox signaling in acute pancreatitis. Oxidative stress and redox status are involved in the onset of acute pancreatitis and also in the development of the systemic inflammatory response, being glutathione depletion, xanthine oxidase activation, and thiol oxidation in proteins critical features of the disease in the pancreas. On th…

NecrosisGSH reduced glutathioneSTAT3 signal transducer and activator of transcription 3ERK extracellular signal-regulated kinasesClinical BiochemistryCCK cholecystokininTRAFs TNF receptor associated factorsReview ArticleIκB kinasePharmacologymedicine.disease_causeBiochemistrySHP small heterodimer partnerSTIM1 stromal interaction molecule 1chemistry.chemical_compoundHATs histone acetyltransferasesMedicineASK1GCL glutamate cysteine ligaseTNF-α tumor necrosis factor alphaIKK IκB kinaseNOS nitric oxide synthaseAcute inflammationHIF hypoxia inducible factorlcsh:QH301-705.5NF-κB nuclear factor kappa BDAMPs damage-associated molecular pattern moleculeslcsh:R5-920biologyGSSG oxidized glutathioneNF-kappa BNLRs nucleotide-binding oligomerization domain (NOD) like receptorsTRADD tumor necrosis factor receptor type 1-associated DEATH domain proteinTRPC3 transient receptor potential channel 3VEGF vascular endothelial growth factorGlutathioneTNFR tumor necrosis factor receptorHMGB1 high-mobility group Box 1 proteinIP3R inositol 145-trisphosphate receptor type 3VCAM-1 Vascular Cell adhesion protein 1Acute DiseaseJNK c-Jun N-terminal kinaseAcute pancreatitisTLRs toll-like receptorsmedicine.symptomlcsh:Medicine (General)Oxidation-ReductionAP-1 activator protein-1Signal TransductionmRNA messenger ribonucleic acidHMGB1ASC apoptosis-associated speck-like protein containing a carboxy-terminal CARDRNS reactive nitrogen speciesPTPs protein tyrosine phosphatasesROS reactive oxygen speciesNADH nicotinamide adenine dinucleotidepHe extracellular pHFAEE fatty acid ethyl estersAP acute pancreatitisHumansXanthine oxidaseCBP CREB-binding proteinRyR endoplasmic reticulum membrane ryanodine receptorsMDA malondialdehydeNO nitric oxideXO xanthine oxidaseASK1 apoptosis signal-regulating kinase-1business.industryOrganic ChemistryAutophagyNADPH nicotinamide adenine dinucleotide phosphateHDACs histone deacetylasesmedicine.diseaseCARS compensatory anti-inflammatory response syndromeXDH xanthine dehydrogenaseIL interleukinIκB inhibitor of kappa BAcute pancreatitisETC Electron transport chainPancreatitisMKPs MAPK phosphatasesSAP severe acute pancreatitischemistrylcsh:Biology (General)DTT dithiothreitolOxidative stressNAC N-acetyl cysteineImmunologybiology.proteinCalciumLysosomesReactive Oxygen SpeciesbusinessMAPK mitogen-activated protein kinaseOxidative stressERCP endoscopic retrograde cholangiopancreatographyRedox Biology
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Sequential Hepatogenic Transdifferentiation of Adipose Tissue-Derived Stem Cells: Relevance of Different Extracellular Signaling Molecules, Transcrip…

2009

Adipose tissue contains a mesenchymal stein cell (MSC) population Known as adipose-derived stein cells (ASCs) capable of differentiating into different cell types. Our aim was to induce hepatic transdifferentiation of ASCs by sequential exposure to several combinations of cytokines, growth factors, and hormones. The most efficient hepatogenic protocol includes fibroblastic growth factors (FGF) 2 and 4 and epidermal growth factor (EGF) (step 1), hepatocyte growth factor (HGF), FGF2, FGF4, and nicotinamide (Nic) (step 2), and oncostatin M (OSM), dexamethasone (Dex), and insulin-tranferrin-selenium (step 3). This protocol activated transcription factors [GATA6, Hex, CCAAT/enhancer binding prot…

NiacinamideCellular differentiationBiomedical Engineeringlcsh:MedicineOncostatin MBiologyDexamethasoneSeleniumEpidermal growth factorEnhancer bindingHumansInsulinCells CulturedHepatocyte differentiationTransplantationHepatocyte Growth FactorGene Expression Profilinglcsh:RTransdifferentiationTransferrinMesenchymal Stem CellsHep G2 CellsCell BiologyFlow CytometryMolecular biologyCell biologyFibroblast Growth FactorsAdipose TissueHepatocyte Nuclear Factor 4Hepatocyte nuclear factor 4 alphaCell TransdifferentiationHepatocytesStem cellSignal TransductionTranscription FactorsAdult stem cellCell Transplantation
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Prognostic value of Thyroid Transcription Factor-1 expression in lung adenocarcinoma in patients treated with anti PD-1/PD-L1.

2021

ABSTRACT Anti-PD1/PD-L1-directed immune checkpoint inhibitors are game changers in advanced non-small-cell lung cancer, but biomarkers are lacking. The aim of our study was to find clinically relevant biomarkers of the efficacy of ICI in non-squamous NSCLC. We conducted a retrospective study of patients receiving ICI for advanced non squamous NSCLC in two cohorts. For a subset of patients, RNAseq data were generated on tumor biopsy taken before ICI. The primary end point was progression-free survival under ICI. Secondary end point was overall survival from ICI initiation. In the cohort, we studied 231 patients. Clinico-pathological characteristics included KRAS mutant status (n = 88), TTF1-…

Oncologymedicine.medical_specialtyLIPI scoreLung Neoplasmsmedicine.medical_treatmentImmunologyThyroid Nuclear Factor 1Adenocarcinoma of Lungmedicine.disease_causeTTF1Internal medicinePD-L1Carcinoma Non-Small-Cell LungmedicineClinical endpointKRASImmunology and AllergyHumansLung cancerImmune Checkpoint InhibitorsRC254-282Retrospective StudiesOriginal Researchbiologybusiness.industryNeoplasms. Tumors. Oncology. Including cancer and carcinogensprognostic factorsRetrospective cohort studyImmunotherapyRC581-607medicine.diseasePrognosisOncologyCohortbiology.proteinAdenocarcinomaKRASimmunotherapyImmunologic diseases. AllergybusinessAdenocarcinoma lung cancerBiomarkersResearch ArticleOncoimmunology
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