0000000000268728

AUTHOR

Luigi Minafra 1*

0000-0003-3112-4519

showing 16 related works from this author

DVWA gene polymorphisms and osteoarthritis

2015

Background: Osteoarthritis (OA) is a degenerative joints disorder influenced by genetic predisposition. We reported that rs11718863 DVWA SNP was represented in Sicilian with a more severe Kellgren and Lawrence (KL) radiographic grade, displaying its predictive role as OA marker progression. Here, we describe the DVWA SNPs: rs11718863, rs7639618, rs7651842, rs7639807 and rs17040821 probably able to induce protein functional changes. Findings: Sixty-one Sicilian patients with knee OA and 100 healthy subjects were enrolled. Clinical and radiographic evaluation was performed using AKSS scores and KL. Linkage Disequilibrium (LD) analyses were performed in order to verify whether the SNPs segrega…

MaleLinkage disequilibriumShort ReportSingle-nucleotide polymorphismOsteoarthritisCollagen Type VIBioinformaticsPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyLinkage DisequilibriumWhite PeopleGene FrequencyOsteoarthritisHaplotypeGenetic predispositionDVWAMedicineSNPHumansGenetic Predisposition to DiseaseAlleleOsteoarthritis DVWA Single nucleotide polymorphisms Haplotypes KLAllele frequencySicilyAllelesAgedMedicine(all)Aged 80 and overBiochemistry Genetics and Molecular Biology(all)business.industryHaplotypeHomozygoteGeneral MedicineSingle nucleotide polymorphismsMiddle AgedOsteoarthritis Kneemedicine.diseaseSingle nucleotide polymorphismKLHaplotypesOsteoarthritiFemalebusinessPseudogenesBMC Research Notes
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Cytokine profile of breast cell lines after different radiation doses

2017

Purpose: Ionizing radiation (IR) treatment activates inflammatory processes causing the release of a great amount of molecules able to affect the cell survival. The aim of this study was to analyze the cytokine signature of conditioned medium produced by non-tumorigenic mammary epithelial cell line MCF10A, as well as MCF7 and MDA-MB-231 breast cancer cell lines, after single high doses of IR in order to understand their role in high radiation response. Materials and methods: We performed a cytokine profile of irradiated conditioned media of MCF10A, MCF7 and MDA-MB-231 cell lines treated with 9 or 23 Gy, by Luminex and ELISA analyses. Results: Overall, our results show that both 9 Gy and 23 …

0301 basic medicineIonizing radiationRadiology Nuclear Medicine and ImagingCell SurvivalCytokine profileBreast NeoplasmsInflammationRadiationRadiation ToleranceIonizing radiation03 medical and health sciences0302 clinical medicineBreast cancerbreast cancerCell Line TumormedicinecytokineHumansskin and connective tissue diseasesCell survivalRadiological and Ultrasound TechnologyChemistrybreast cancer cytokines inflammation Ionizing radiation Breast Neoplasms Cell Line Tumor Cell Survival Culture Media Conditioned Dose-Response Relationship Radiation Humans Phenotype Radiation ToleranceDose-Response Relationship Radiationmedicine.diseasecytokinesDose–response relationship030104 developmental biologyPhenotypeCell cultureinflammation030220 oncology & carcinogenesisCulture Media ConditionedImmunologyCancer researchmedicine.symptomBreast NeoplasmHuman
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Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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Proteomic differentiation pattern in the U937 cell line

2011

The U937 cell line, originally established from a histiocytic lymphoma, has been widely used as a powerful in vitro model for haematological studies. These cells retain the immature cell phenotype and can be induced to differentiate by several factors, among which 12-O-tetradecanoyl-13-phorbol acetate (TPA). Fully differentiated cells acquire the adherent phenotype and exhibit various properties typical of macrophages. However, in spite of a great deal of research devoted to the U937 cellular model, the molecular basis of biological processes involved in the monocyte/macrophage differentiation remains unclear. The present study has been undertaken to contribute to this knowledge, in order t…

ProteomicsCancer ResearchCellular differentiationBlotting WesternBiologyProteomicsMonocytesImmunophenotypingProto-Oncogene Proteins c-mycImmunophenotypingmedicineHumansElectrophoresis Gel Two-DimensionalU937 cellReverse Transcriptase Polymerase Chain ReactionCell growthMonocyteCell DifferentiationU937 CellsHematologyPhenotypePROTEOMICS DIFFERENTIATION MARKERS U937 CELL LINECell biologymedicine.anatomical_structureOncologySpectrometry Mass Matrix-Assisted Laser Desorption-IonizationCarcinogensTetradecanoylphorbol AcetateCellular modelLeukemia Research
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Biological and Mechanical Characterization of the Random Positioning Machine (RPM) for Microgravity Simulations

2021

The rapid improvement of space technologies is leading to the continuous increase of space missions that will soon bring humans back to the Moon and, in the coming future, toward longer interplanetary missions such as the one to Mars. The idea of living in space is charming and fascinating; however, the space environment is a harsh place to host human life and exposes the crew to many physical challenges. The absence of gravity experienced in space affects many aspects of human biology and can be reproduced in vitro with the help of microgravity simulators. Simulated microgravity (s-μg) is applied in many fields of research, ranging from cell biology to physics, including cancer biology. In…

random positioning machineSpace technologyRandom positioning machineScienceHuman lifeQPaleontologyspace biology; cancer biology; TNBC; simulated microgravity; random positioning machineGeneral Biochemistry Genetics and Molecular BiologySpace explorationArticlespace biology; cancer biology; TNBC; simulatedmicrogravity; randompositioningmachineSimulated microgravitySpace and Planetary ScienceSystems engineeringCancer biologyInterplanetary spaceflightTNBCEcology Evolution Behavior and Systematicssimulated microgravitySpace environmentspace biologycancer biologyLife
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Unmasking epithelial-mesenchymal transition in a breast cancer primary culture: a study report

2012

Abstract Background Immortalized cancer cell lines are now well-established procedures in biomedicine for a more complete understanding of cellular processes in cancer. However, they are more useful in preparation of fresh tumour tissue, in order to obtain cancer cells with highly preserved individual tumour properties. In the present study we report an analytical investigation on a breast cancer primary cell culture isolated from a surgical specimen obtained from a patient with an infiltrating ductal carcinoma. The objective of the research was to reveal unrecognized aspects of neoplastic cells, typical of the tumour from where the cells were derived, but masked in fixed tissue sections, i…

Pathologymedicine.medical_specialtyEpithelial-Mesenchymal TransitionImmunocytochemistryShort Reportlcsh:MedicineBreast NeoplasmsBiologyGeneral Biochemistry Genetics and Molecular BiologyCell LineBreast cancerBreast cancerCarcinomamedicineBiomarkers TumorTumor Cells CulturedHumansVimentinMicroscopy Phase-ContrastEpithelial–mesenchymal transitionPrimary cell culturelcsh:Science (General)lcsh:QH301-705.5Medicine(all)Biochemistry Genetics and Molecular Biology(all)Reverse Transcriptase Polymerase Chain Reactionlcsh:RMesenchymal stem cellCarcinoma Ductal BreastCancerMuscle SmoothBreast cancer Primary cell culture Epithelial-mesenchymal transition (EMT)General Medicinemedicine.diseaseCadherinsImmunohistochemistryActinsGene Expression Regulation NeoplasticEpithelial-mesenchymal transition (EMT)lcsh:Biology (General)Cell cultureCancer cellKeratinsFemalelcsh:Q1-390
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Breast cancer cells exhibit selective modulation induced by different collagen substrates.

2008

During the invasive phase of malignant tumors, neoplastic cells break into the basal lamina and enter in contact with the underlying connective tissue, which concurrently undergoes extensive modifications. The aim of our present minireview is to focus the changes in the collagenous matrix occurring during breast cancer progression and to explore the possible effects of different collagen substrates on breast cancer cell behavior and proteomic modulation.

ProteomicsPathologymedicine.medical_specialtyConnective tissueBreast NeoplasmsMatrix (biology)ProteomicsBiochemistryBreast cancerRheumatologymedicineAnimalsHumansOrthopedics and Sports MedicineNeoplasm InvasivenessNeoplasm MetastasisSettore BIO/06 - Anatomia Comparata E Citologiaskin and connective tissue diseasesCollagen substrateMolecular BiologyCollagen Substrate Breast Cancer ProteomicsChemistryCell Biologymedicine.diseaseExtracellular MatrixSelective modulationSettore BIO/18 - Geneticamedicine.anatomical_structureCancer researchBasal laminaBreast cancer cellsCollagenStromal Cells
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Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BC

2008

Decorin is a prototype member of the small leucine-rich proteoglycan family widely distributed in the extracellular matrices of many connective tissues, where it has been shown to play multiple important roles in the matrix assembly process, as well as in some cellular activities. A major interest for decorin function concerns its role in tumorigenesis, as growth-inhibitor of different neoplastic cells, and potential antimetastatic agent. The aim of our research was to investigate wide-ranged effects of transgenic decorin on breast cancer cells. To this purpose we utilized the well-characterized 8701-BC cell line, isolated from a ductal infiltrating carcinoma of the breast, and two derived …

DecorinTransgeneBlotting WesternOligonucleotidesBreast NeoplasmsBiologymedicine.disease_causeProteomicsBiochemistryproteomicsRheumatologyCell Line TumorSettore BIO/10 - BiochimicaCell AdhesionmedicineHumansElectrophoresis Gel Two-DimensionalOrthopedics and Sports MedicineSettore BIO/06 - Anatomia Comparata E CitologiaMolecular BiologyCell ProliferationdecorinExtracellular Matrix ProteinsCell growthGene Expression ProfilingCell BiologyTransfectionbrest cancer cellGene Expression Regulation Neoplasticcarbohydrates (lipids)Settore BIO/18 - GeneticaProteoglycanCell cultureMicroscopy Electron Scanningbiology.proteinCancer researchdecorin; brest cancer cells; proteomicsFemaleProteoglycansCarcinogenesis
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High-Intensity Focused Ultrasound- and Radiation Therapy-Induced Immuno-modulation: Comparison and Potential Opportunities

2017

In recent years, high-intensity focused ultrasound (HIFU) has emerged as a new and promising non-invasive and non-ionizing ablative technique for the treatment of localized solid tumors. Extensive pre-clinical and clinical studies have evidenced that, in addition to direct destruction of the primary tumor, HIFU-thermoablation may elicit long-term systemic host anti-tumor immunity. In particular, an important consequence of HIFU treatment includes the release of tumor-associated antigens (TAAs), the secretion of immuno-suppressing factors by cancer cells and the induction of cytotoxic T lymphocyte (CTL) activity. Radiation therapy (RT) is the main treatment modality used for many types of tu…

0301 basic medicinePathologymedicine.medical_specialtyRadiology Nuclear Medicine and ImagingAcoustics and Ultrasonicsmedicine.medical_treatmentBiophysicsImmunomodulation03 medical and health sciences0302 clinical medicineImmune systemNeoplasmsmedicineBystander effectHumansCancerChemotherapyRadiological and Ultrasound Technologybusiness.industryCancermedicine.diseasePrimary tumorThermal ablationHigh-intensity focused ultrasoundRadiation therapyImmuno-therapyRadiation therapyTumor vaccine030104 developmental biologyBiophysicHigh-intensity focused ultrasound030220 oncology & carcinogenesisCancer cellCancer researchHigh-Intensity Focused Ultrasound AblationAnti-tumor immunitybusinessAnti-tumor immunity; Cancer; High-intensity focused ultrasound; Immuno-therapy; Radiation therapy; Thermal ablation; Tumor vaccine
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Portrait of inflammatory response to ionizing radiation treatment

2015

Ionizing radiation (IR) activates both pro-and anti-proliferative signal pathways producing an imbalance in cell fate decision. IR is able to regulate several genes and factors involved in cell-cycle progression, survival and/or cell death, DNA repair and inflammation modulating an intracellular radiation-dependent response. Radiation therapy can modulate anti-tumour immune responses, modifying tumour and its microenvironment. In this review, we report how IR could stimulate inflammatory factors to affect cell fate via multiple pathways, describing their roles on gene expression regulation, fibrosis and invasive processes. Understanding the complex relationship between IR, inflammation and …

Ionizing radiationDNA repairFibrosimedicine.medical_treatmentClinical BiochemistryInflammationReviewCell fate determinationBioinformaticsImmune systemMedicineCytokineRegulation of gene expressionInflammationInvasivenebusiness.industryCancerIonizing radiation Inflammation Cytokine Fibrosis InvasivenessCell Biologymedicine.diseaseFibrosisInvasivenessRadiation therapyCytokineCancer researchmedicine.symptombusinessJournal of Inflammation
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Brain-derived neurotrophic factor (Val66Met) polymorphism does not influence recovery from a post-traumatic vegetative state: a blinded retrospective…

2012

Brain-derived neurotrophic factor (BDNF) is a neurotrophin that influences neuronal plasticity throughout life. Emergence from a vegetative state (VS) after a traumatic brain injury (TBI) implies that the brain undergoes plastic changes. A common polymorphism in the BDNF gene—BDNF Val66Met (referred to herein as BDNFMet)—impairs cognitive function in healthy subjects. The aim of this study was to determine whether the BDNFMet polymorphism plays a role in the recovery of consciousness and cognitive functions in patients in a VS after a TBI. Fifty-three patients in a VS 1 month after a TBI were included in the study and genotyped for the BDNFMet polymorphism. Scores of levels of cognitive fun…

OncologyAdultMalemedicine.medical_specialtydisorders of consciousneAdolescentGenotypeTraumatic brain injuryPolymorphism Single Nucleotidevegetative stateYoung AdultNeurotrophic factorsInternal medicineNeuroplasticitymedicineHumansYoung adultPsychiatryRetrospective StudiesBrain-derived neurotrophic factorbiologytraumatic brain injuryBrain-Derived Neurotrophic FactorPersistent Vegetative Statelevels of cognitive functioninggenetic factorRetrospective cohort studyCognitionRecovery of FunctionMiddle Agedmedicine.diseasenervous systemBrain Injuriesbiology.proteinFemaleNeurology (clinical)PsychologyPolymorphism Restriction Fragment LengthNeurotrophinJournal of neurotrauma
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Expanding the protein catalogue in the proteome reference map of human breast cancer cells

2006

In this report we present a catalogue of 162 proteins (including isoforms and variants) identified in a prototype of proteomic map of breast cancer cells. This work represents the prosecution of previous studies describing the protein complement of breast cancer cells of the line 8701-BC, which has been well characterized for several parameters, providing to be a useful model for the study of breast cancer-associated candidate biomarkers. In particular, 110 spots were identified ex novo by PMF, or validated following previous gel matching identification method; 30 were identified by N-terminal microsequencing and the remaining by gel matching with maps available from our former work. As a c…

ProteomicsProteomeFuture applicationBreast NeoplasmsComputational biologyBiologyProteomicsBioinformaticsBiochemistryCandidate biomarkersBreast cancerSettore BIO/13 - Biologia ApplicataSequence Analysis ProteinCell Line Tumor[SDV.BBM] Life Sciences [q-bio]/Biochemistry Molecular BiologyBiomarkers TumormedicineHumansReference mapElectrophoresis Gel Two-DimensionalMolecular BiologyCytoskeletonHeat-Shock ProteinsBreast Cancer Proteomicmedicine.diseaseGene Expression Regulation NeoplasticSpectrometry Mass Matrix-Assisted Laser Desorption-IonizationCancer cellProteomeRNABiomarker (medicine)Oxidation-ReductionHuman breastPROTEOMICS
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Proton-irradiated breast cells: molecular points of view

2019

Abstract Breast cancer (BC) is the most common cancer in women, highly heterogeneous at both the clinical and molecular level. Radiation therapy (RT) represents an efficient modality to treat localized tumor in BC care, although the choice of a unique treatment plan for all BC patients, including RT, may not be the best option. Technological advances in RT are evolving with the use of charged particle beams (i.e. protons) which, due to a more localized delivery of the radiation dose, reduce the dose administered to the heart compared with conventional RT. However, few data regarding proton-induced molecular changes are currently available. The aim of this study was to investigate and descri…

breast cancer cDNA microarray gene signature proton therapy radiation Breast Breast Neoplasms Cell Line Tumor DNA Complementary Dose-Response Relationship Radiation Female Gene Expression Profiling Gene Expression Regulation Neoplastic Humans Inflammation MCF-7 Cells Oligonucleotide Array Sequence Analysis Phenotype Proton Therapy Radiation Tolerance Radiotherapy ProtonsDNA ComplementaryHealth Toxicology and Mutagenesismedicine.medical_treatmentBreast NeoplasmsCell fate determinationRadiation Tolerancegene signature03 medical and health sciences0302 clinical medicineBreast cancerbreast cancerCell Line TumorRegular Papermedicineproton therapyHumansRadiology Nuclear Medicine and imagingBreastClonogenic assayBiologyProton therapyOligonucleotide Array Sequence Analysis030304 developmental biologyInflammationcDNA microarray0303 health sciencesRadiotherapyChemistryGene Expression ProfilingBreast cancer; radiation; cDNA microarray; gene signature; proton therapyCancerDose-Response Relationship RadiationGene signaturemedicine.diseaseGene Expression Regulation NeoplasticGene expression profilingRadiation therapyradiationPhenotype030220 oncology & carcinogenesisMCF-7 CellsCancer researchFemaleProtons
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Genotyping analysis and 18FDG uptake in breast cancer patients: a preliminary research

2013

Background: Diagnostic imaging plays a relevant role in the care of patients with breast cancer (BC). Positron Emission Tomography (PET) with 18F-fluoro-2-deoxy-D-glucose (FDG) has been widely proven to be a clinical tool suitable for BC detection and staging in which the glucose analog supplies metabolic information about the tumor. A limited number of studies, sometimes controversial, describe possible associations between FDG uptake and single nucleotide polymorphisms (SNPs). For this reason this field has to be explored and clarified. We investigated the association of SNPs in GLUT1, HIF-1a, EPAS1, APEX1, VEGFA and MTHFR genes with the FDG uptake in BC. Methods: In 26 caucasian individu…

OncologyCancer Researchmedicine.medical_specialtyPathologydbSNPGenotypePET-CTSingle-nucleotide polymorphismStandardized uptake valueBreast NeoplasmsGene mutationMultimodal ImagingPolymorphism Single NucleotideBreast cancerBreast cancerFluorodeoxyglucose F18Internal medicinemedicineHumansPET-CTSUVpvcbiologybusiness.industryResearchGlucose analogSUVmaxSingle nucleotide polymorphismsmedicine.diseaseSingle nucleotide polymorphismBreast cancer Single nucleotide polymorphisms PET-CT SUVmax SUVpvcOncologyMethylenetetrahydrofolate reductasePositron-Emission Tomographybiology.proteinFemaleRadiopharmaceuticalsbusinessTomography X-Ray Computed
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Genetic, clinical and radiographic signs in knee osteoarthritis susceptibility

2014

Abstract INTRODUCTION: Osteoarthritis (OA) is considered to be a multifactorial and polygenic disease and diagnosis is mainly clinical and radiological. Correlation between radiographic data and clinical status has been reported. However, very few studies, especially in Caucasian people, describe the association between the Kellgren and Lawrence OA grading scale (KL) and genetic alterations to better understand OA etiopathogenesis and susceptibility. In order to update the knee OA grading, in this study we assessed the associations between KL grade, clinical features such as American Knee Society Score (AKSS), age, and polymorphisms in the principal osteoarthritis susceptibility (OS) genes …

Malemedicine.medical_specialtyPathologydbSNPGenotypeSingle Nucleotide PolymorphismsImmunologySingle-nucleotide polymorphismOsteoarthritisPolymorphism Single NucleotideRadiographicRheumatologyInternal medicineSettore MED/33 - Malattie Apparato LocomotoreOMIM : Online Mendelian Inheritance in ManHumansImmunology and AllergyMedicineGenetic Predisposition to DiseaseGrading (tumors)AgedAged 80 and overReverse Transcriptase Polymerase Chain Reactionbusiness.industryMiddle AgedOsteoarthritis Kneemedicine.diseaseRheumatologyRadiographyOrthopedic surgeryCohortFemaleOsteoarthritibusinessResearch ArticleArthritis Research & Therapy
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The PVT-1 oncogene is a Myc protein target that is overexpressed in transformed cells

2007

The human PVT-1 gene is located on chromosome 8 telomeric to the c-Myc gene and it is frequently involved in the translocations occurring in variant Burkitt's lymphomas and murine plasmacytomas. It has been proposed that PVT-1 regulates c-Myc gene transcription over a long distance. To get new insights into the functional relationships between the two genes, we have investigated PVT-1 and c-Myc expression in normal human tissues and in transformed cells. Our findings indicate that PVT-1 expression is restricted to a relative low number of normal tissues compared to the wide distribution of c-Myc mRNA, whereas the gene is highly expressed in many transformed cell types including neuroblastom…

PhysiologyClinical BiochemistryBiologyCell LineProto-Oncogene Proteins c-mycGenes ReporterNeoplasmsC-MYCAnimalsHumansTissue DistributionPromoter Regions GeneticGeneGENE-EXPRESSIONRegulation of gene expressionReporter geneOncogeneProteinsCell BiologyTransfectionMolecular biologyPVT1Cell Transformation NeoplasticGene Expression RegulationPVT-1Cell cultureRNA Long NoncodingChromatin immunoprecipitationJournal of Cellular Physiology
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