Search results for "isoforms"

showing 10 items of 185 documents

Receptor Activator of Nuclear Factor Kappa B (RANK) and Clinicopathological Variables in Endometrial Cancer: A Study at Protein and Gene Level

2018

The system integrated by the receptor activator of nuclear factor kappa B (RANK) and its ligand, RANKL, modulates the role of hormones in the genesis and progression of breast tumors. We investigated whether the expression of RANK was related with clinicopathological features of primary endometrial tumors. Immunohistochemistry was used in an endometrial cancer tissue array containing samples from 36 tumors. The amount of RANK mRNA was examined in a tissue scan cDNA array containing cDNA from 40 tumors. Normal endometrium was examined for comparison. Immunohistochemical analyses showed that RANK expression was higher in malignant than in normal endometrium (p &lt

0301 basic medicineEndometriumRANKlcsh:Chemistry0302 clinical medicineGene expressionProtein IsoformsendometriumReceptorlcsh:QH301-705.5SpectroscopyReceptor Activator of Nuclear Factor-kappa BbiologyGeneral MedicineMiddle AgedComputer Science ApplicationsGene Expression Regulation Neoplasticmedicine.anatomical_structureRANKL030220 oncology & carcinogenesisendometrial cancerimmunohistochemistryImmunohistochemistryFemaleAdultGene isoformAdenocarcinomaArticleCatalysisInorganic Chemistry03 medical and health sciencesmedicineHumansRNA MessengerPhysical and Theoretical ChemistryMolecular BiologyNeoplasm StagingActivator (genetics)Endometrial cancerOrganic Chemistrymedicine.diseaseEndometrial NeoplasmsAlternative Splicing030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Tissue Array Analysisgene expressionCancer researchbiology.proteinprognosisNeoplasm GradingInternational Journal of Molecular Sciences
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DNA Hypomethylation and Histone Variant macroH2A1 Synergistically Attenuate Chemotherapy-Induced Senescence to Promote Hepatocellular Carcinoma Progr…

2016

Abstract Aging is a major risk factor for progression of liver diseases to hepatocellular carcinoma (HCC). Cellular senescence contributes to age-related tissue dysfunction, but the epigenetic basis underlying drug-induced senescence remains unclear. macroH2A1, a variant of histone H2A, is a marker of senescence-associated heterochromatic foci that synergizes with DNA methylation to silence tumor-suppressor genes in human fibroblasts. In this study, we investigated the relationship between macroH2A1 splice variants, macroH2A1.1 and macroH2A1.2, and liver carcinogenesis. We found that protein levels of both macroH2A1 isoforms were increased in the livers of very elderly rodents and humans, a…

0301 basic medicineEpigenomicsCHROMATINCancer ResearchLIVERCancer Research; OncologyGene ExpressionSECRETORY PHENOTYPEHCV CORE PROTEINHistonesCell MovementProtein IsoformsCellular SenescenceEpigenomicsAged 80 and overMice KnockoutbiologyLiver NeoplasmsMETHYLATIONHep G2 CellsCANCERChromatinHistoneOncologyDNA methylationAzacitidineDisease ProgressionCell agingSTEM-CELLSSenescenceAdultEXPRESSIONCarcinoma HepatocellularArticle5-AZA-2'-DEOXYCYTIDINE03 medical and health sciencesCell Line TumorAnimalsHumansEpigeneticsCell ProliferationDNA Methylationbeta-GalactosidaseMolecular biologyMice Inbred C57BLMICE030104 developmental biologybiology.proteinCancer researchDNA hypomethylation
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Complexity of gap junctions between horizontal cells of the carp retina.

2016

In the vertebrate retina, horizontal cells (HCs) reveal homologous coupling by gap junctions (gj), which are thought to consist of different connexins (Cx). However, recent studies in mouse, rabbit and zebrafish retina indicate that individual HCs express more than one connexin. To provide further insights into the composition of gj connecting HCs and to determine whether HCs express multiple connexins, we examined the molecular identity and distribution of gj between HCs of the carp retina. We have cloned four carp connexins designated Cx49.5, Cx55.5, Cx52.6 and Cx53.8 with a close relationship to connexins previously reported in HCs of mouse, rabbit and zebrafish, respectively. Using in s…

0301 basic medicineFish ProteinsCarpsImmunoelectron microscopyBlotting WesternConnexinIn situ hybridizationRetinal Horizontal Cellsbehavioral disciplines and activitiesPolymerase Chain ReactionConnexins03 medical and health sciencesMice0302 clinical medicineCell Line TumormedicineAnimalsProtein IsoformsElectrical synapseAmino Acid SequenceCarpMicroscopy ImmunoelectronZebrafishIn Situ HybridizationRetinabiologyGeneral NeuroscienceGap junctionGap JunctionsAnatomyDendritesbiology.organism_classificationImmunohistochemistryAxonsCell biology030104 developmental biologymedicine.anatomical_structureembryonic structuressense organsSequence Alignment030217 neurology & neurosurgeryNeuroscience
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Identification of a classic nuclear localization signal at the N terminus that regulates the subcellular localization of Rbfox2 isoforms during diffe…

2016

Nuclear localization of the alternative splicing factor Rbfox2 is achieved by a C-terminal nuclear localization signal (NLS) which can be excluded from some Rbfox2 isoforms by alternative splicing. While this predicts nuclear and cytoplasmic localization, Rbfox2 is exclusively nuclear in some cell types. Here, we identify a second NLS in the N terminus of Rbfox2 isoform 1A that is not included in Rbfox2 isoform 1F. Rbfox2 1A isoforms lacking the C-terminal NLS are nuclear, whereas equivalent 1F isoforms are cytoplasmic. A shift in Rbfox2 expression toward cytoplasmic 1F isoforms occurs during epithelial to mesenchymal transition (EMT) and could be important in regulating the activity and fu…

0301 basic medicineGene isoformCytoplasmEpithelial-Mesenchymal TransitionNuclear Localization SignalsBiophysicsBiochemistryCell LineTransforming Growth Factor beta103 medical and health sciencesMiceMammary Glands AnimalProtein DomainsStructural BiologyCell Line TumorGeneticsNLSAnimalsProtein IsoformsAmino Acid SequenceMolecular BiologyCell NucleusChemistryAlternative splicingCell DifferentiationEpithelial CellsMouse Embryonic Stem CellsCell BiologySubcellular localizationMolecular biologyCell biologyAlternative Splicing030104 developmental biologyP19 cellCytoplasmRNA splicingRNA Splicing FactorsSequence AlignmentNuclear localization sequenceSignal TransductionFEBS letters
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ZNF518B gene up-regulation promotes dissemination of tumour cells and is governed by epigenetic mechanisms in colorectal cancer

2019

AbstractMost of colorectal cancer CRC-related death is due to metastasis and the finding of markers for prognosis of invasiveness, constitutes an appealing challenge. Here, after analysing cDNA array containing 43 tumour and 5 normal mucosa samples, we report that the expression of the ZNF518B gene as a whole and that of its two major splicing isoforms are significantly increased in tumours. The canonical isoform was also up-regulated in a patients’ cohort containing 70 tumour and 69 adjacent tissue samples. The effects of silencing ZNF518B on the phenotype of CRC cell lines were then studied. The gene does not affect cell proliferation, but plays a significant role in cell migration and in…

0301 basic medicineGene isoformEpithelial-Mesenchymal TransitionCelllcsh:MedicineBiologyArticleHistone DeacetylasesEpigenesis GeneticHistones03 medical and health sciences0302 clinical medicineCell MovementCell Line TumorGene expressionmedicineGene silencingHumansProtein IsoformsEpigeneticsNeoplasm Metastasislcsh:ScienceGeneCell ProliferationNeoplasm StagingMultidisciplinaryGene Expression Profilinglcsh:RPrognosisColorectal cancer3. Good healthDNA-Binding ProteinsGene Expression Regulation Neoplastic030104 developmental biologymedicine.anatomical_structureHistoneGene Knockdown TechniquesCancer researchbiology.proteinH3K4me3lcsh:QEpigeneticsColorectal Neoplasms030217 neurology & neurosurgeryScientific Reports
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Apoptosis induced by a HIPK2 full-length-specific siRNA is due to off-target effects rather than prevalence of HIPK2-Δe8 isoform

2017

Small interfering RNAs (siRNAs) are widely used to study gene function and extensively exploited for their potential therapeutic applications. HIPK2 is an evolutionary conserved kinase that binds and phosphorylates several proteins directly or indirectly related to apoptosis. Recently, an alternatively spliced isoform skipping 81 nucleotides of exon 8 (Hipk2-Δe8) has been described. Selective depletion of Hipk2 full-length (Hipk2-FL) with a specific siRNA that spares the Hipk2-Δe8 isoform has been shown to strongly induce apoptosis, suggesting an unpredicted dominant-negative effect of Hipk2-FL over the Δe8 isoform. From this observation, we sought to take advantage and assessed the therape…

0301 basic medicineGene isoformMaleProgrammed cell deathSmall interfering RNACell SurvivalBlotting WesternMice Nudecolorectal cancerApoptosisHIPK2BiologyProtein Serine-Threonine KinasesGene Expression Regulation Enzymologic03 medical and health sciencesExonRNA interferenceCell Line TumorAnimalsHumansViability assayoff-target effectCell Line TransformedSettore MED/04 - Patologia GeneraleKinaseReverse Transcriptase Polymerase Chain ReactionAlternative splicingalternative splicing isoformoff-target effectsExonsHCT116 CellsMolecular biologyXenograft Model Antitumor AssaysCell biologyGene Expression Regulation NeoplasticIsoenzymesAlternative Splicing030104 developmental biologyRNAi TherapeuticsOncologyalternative splicing isoformsNeoplastic Stem CellsRNA InterferenceHIPK2; alternative splicing isoforms; colorectal cancer; off-target effects; siRNA therapeutic applicationsiRNA therapeutic applicationCarrier ProteinsColorectal NeoplasmsGene DeletionResearch Paper
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Effects of ibuprofen and carbamazepine on the ion transport system and fatty acid metabolism of temperature conditioned juveniles of Solea senegalens…

2018

The increasing presence of pharmaceuticals in aquatic environments in the last decades, derived from human and veterinary use, has become an important environmental problem. Previous studies have shown that ibuprofen (IB) and carbamazepine (CBZ) modify physiological and biochemical processes in Senegalese sole (Solea senegalensis) in a temperature-dependent manner. In other vertebrates, there is evidence that both of these pharmaceuticals interfere with the ‘arachidonic acid (AA) cascade’, which is responsible for the biosynthesis of numerous enzymes that are involved in the osmoregulatory process. The present work aims to study the temperature-dependent effects of these two pharmaceuticals…

0301 basic medicineGillGillsHealth Toxicology and MutagenesisATPaseAcclimatizationIbuprofen010501 environmental sciencesKidney01 natural scienceschemistry.chemical_compoundOsmoregulationProtein IsoformsIntestinal MucosaNa+ K+ -ATPasebiologyFatty AcidsTemperatureGeneral MedicineWater-Electrolyte BalancePollutionEicosapentaenoic acidIntestinesCarbamazepineBiochemistryOsmoregulationFlatfishesPharmaceuticalsArachidonic acidSodium-Potassium-Exchanging ATPasemedicine.medical_specialtyBiochemical Phenomena03 medical and health sciencesInternal medicinemedicineAnimalsNa+/K+-ATPaseFatty acids0105 earth and related environmental sciencesIon TransportFatty acid metabolismMarinePublic Health Environmental and Occupational HealthLipid MetabolismEnzyme assay030104 developmental biologyEndocrinologyFishchemistryProstaglandin-Endoperoxide Synthasesbiology.proteinWater Pollutants ChemicalEcotoxicology and environmental safety
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CD19 Isoforms Enabling Resistance to CART-19 Immunotherapy Are Expressed in B-ALL Patients at Initial Diagnosis.

2017

Supplemental Digital Content is available in the text.

0301 basic medicineMaleCancer Researchmedicine.medical_treatmentT-LymphocytesEpitopes T-LymphocyteT-Cell Antigen Receptor SpecificityImmunotherapy AdoptiveEpitopeCohort StudiesExon0302 clinical medicineimmune system diseasesImmunology and AllergyMedicineProtein IsoformsChildAged 80 and overbiologyCD19CART-19B-ALLMiddle AgedPrecursor Cell Lymphoblastic Leukemia-Lymphomaepitope-lossmedicine.anatomical_structureTreatment Outcome030220 oncology & carcinogenesisChild PreschoolComputingMethodologies_DOCUMENTANDTEXTPROCESSINGFemaleClone (B-cell biology)Gene isoformAdultAdolescentRecombinant Fusion ProteinsImmunologyAntigens CD19Receptors Antigen T-CellCancer VaccinesCD1903 medical and health sciencesYoung AdultAntigenHumansAgedPharmacologybusiness.industryInfant NewbornisoformsInfantImmunotherapy030104 developmental biologyImmunologybiology.proteinClinical StudyTumor EscapeBone marrowbusinessJournal of immunotherapy (Hagerstown, Md. : 1997)
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

2019

Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.

0301 basic medicineMaleGénétique clinique[SDV]Life Sciences [q-bio]MedizinPhysiology030105 genetics & hereditySeizures/epidemiologyEpilepsyBrain Diseases/epidemiologyX-linked inheritanceIntellectual disabilityGuanine Nucleotide Exchange FactorsProtein IsoformsMissense mutationGenetics(clinical)10. No inequalityNon-U.S. Gov'tGenetics (clinical)X-linked recessive inheritanceComputingMilieux_MISCELLANEOUSBrain DiseasesSex CharacteristicsResearch Support Non-U.S. Gov'tBrainSciences bio-médicales et agricoles3. Good healthPedigreePhenotypeintellectual disabilityFemaleBrain/growth & developmentSex characteristicsGénétique moléculaireGuanine Nucleotide Exchange Factors/geneticsEncephalopathyResearch SupportX-inactivationArticle03 medical and health sciencesSeizuresProtein Isoforms/geneticsmedicineJournal ArticleIQSEC2HumansIntellectual Disability/epidemiology[SDV.GEN]Life Sciences [q-bio]/Geneticsbusiness.industryInfant NewbornisoformsCorrectionInfantmedicine.diseaseNewbornHuman genetics030104 developmental biologyMutationepilepsyHuman medicinebusiness[SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
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High Throughput Sequencing Identifies Misregulated Genes in the Drosophila Polypyrimidine Tract-Binding Protein (hephaestus) Mutant Defective in Sper…

2015

The Drosophila polypyrimidine tract-binding protein (dmPTB or hephaestus) plays an important role during spermatogenesis. The heph2 mutation in this gene results in a specific defect in spermatogenesis, causing aberrant spermatid individualization and male sterility. However, the array of molecular defects in the mutant remains uncharacterized. Using an unbiased high throughput sequencing approach, we have identified transcripts that are misregulated in this mutant. Aberrant transcripts show altered expression levels, exon skipping, and alternative 5' ends. We independently verified these findings by reverse-transcription and polymerase chain reaction (RT-PCR) analysis. Our analysis shows m…

0301 basic medicineMalePhysiologyMutantGene Expressionlcsh:MedicineArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryConserved sequence0302 clinical medicineSequencing techniquesReproductive PhysiologyAnimal CellsInvertebrate GenomicsMedicine and Health SciencesDrosophila ProteinsProtein IsoformsCell Cycle and Cell Divisionlcsh:ScienceConserved SequencePhylogenyGeneticsRegulation of gene expressionMultidisciplinarybiologyChromosome BiologyDrosophila MelanogasterMessenger RNAHigh-Throughput Nucleotide SequencingRNA sequencingAnimal ModelsGenomicsSpermatidsInsectsNucleic acidsMeiosisCell ProcessesDrosophilaDrosophila melanogasterTranscription Initiation SiteCellular TypesDrosophila ProteinPolypyrimidine Tract-Binding ProteinResearch ArticleArthropodaMolecular Sequence DataReal-Time Polymerase Chain ReactionResearch and Analysis Methods03 medical and health sciencesModel OrganismsGeneticsAnimalsPolypyrimidine tract-binding proteinRNA MessengerSpermatogenesisMolecular Biology TechniquesMolecular BiologyBinding SitesBase SequenceGene Expression Profilinglcsh:ROrganismsBiology and Life SciencesCell BiologyReverse Transcriptase-Polymerase Chain Reactionbiology.organism_classificationInvertebratesExon skippingSpermGene expression profiling030104 developmental biologyGene OntologyGerm CellsGene Expression RegulationAnimal GenomicsMutationbiology.proteinRNAlcsh:QTranscriptome030217 neurology & neurosurgeryPLoS ONE
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