Search results for "Gene Expression"

showing 10 items of 4085 documents

Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.

2015

International audience; Myotonic dystrophy type 1 (DM1) is caused by an unstable expanded CTG repeat located within the DMPK gene 3'UTR. The nature, severity and age at onset of DM1 symptoms are very variable in patients. Different forms of the disease are described, among which the congenital form (CDM) is the most severe. Molecular mechanisms of DM1 are well characterized for the adult form and involve accumulation of mutant DMPK RNA forming foci in the nucleus. These RNA foci sequester proteins from the MBNL family and deregulate CELF proteins. These proteins are involved in many cellular mechanisms such as alternative splicing, transcriptional, translational and post-translational regul…

musculoskeletal diseasesCCAAT-Enhancer-Binding Protein-deltacongenital hereditary and neonatal diseases and abnormalities[SDV.NEU.NB]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/Neurobiologylcsh:MedicineMice Transgenic[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyMyotonin-Protein KinaseMice[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]AnimalsHumansMyotonic DystrophyRNA AntisenseRNA Messengerlcsh:ScienceMuscle SkeletalCell NucleusMyocardiumlcsh:R[SDV.NEU.NB] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]/NeurobiologyBrainGene Expression Regulation DevelopmentalRNA-Binding Proteins[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyEmbryo MammalianAlternative SplicingDisease Models Animal[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAnimals Newborn[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]lcsh:QTrinucleotide Repeat ExpansionSignal TransductionResearch ArticlePloS one
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Clonal heterogeneity of the growth and invasive response of a human breast carcinoma cell line to parathyroid hormone-related peptide fragments

1997

It has been previously reported that 8701-BC cells, derived from a primary carcinoma of the breast, constitutively express parathyroid hormone (PTH)-related peptide (PTHrP) and PTH/PTHrP receptor (PTH/PTHrP-R) genes, that N-terminal, mid-regional and C-terminal immunoreactive PTHrP can be found in cell conditioned medium and, furthermore, that exogenously added PTHrP (1-34), (67-86) and, to a minor extent, (107-139) are anti-mitogenic but promote Matrigel invasion by this cell line. It has also been reported that PTHrP gene expression is selectively switched on in those 8701-BC clonal lines endowed with a higher proliferation rate and invasive ability in vitro. Here we have first examined t…

musculoskeletal diseasesCancer Researchmedicine.medical_specialtyPopulationParathyroid hormoneBreast NeoplasmsBiologyInternal medicineGene expressionTumor Cells CulturedmedicineHumansNeoplasm Invasivenesseducationeducation.field_of_studyParathyroid hormone-related proteinCell growthParathyroid hormone receptorParathyroid Hormone-Related ProteinProteinsGeneral Medicinemusculoskeletal systemMolecular biologyPeptide FragmentsNeoplasm ProteinsEndocrinologyParathyroid HormoneCell cultureFemaleClone (B-cell biology)Cell Divisionhormones hormone substitutes and hormone antagonistsCarcinogenesis
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Osteogenic differentiation of periodontal fibroblasts is dependent on the strength of mechanical strain

2012

Abstract Objective During orthodontic therapy the correct strength of mechanical strain plays a key role for bone remodelling during tooth movement. Aim of this study was to investigate the osteogenic differentiation of human periodontal ligament fibroblasts (HPdLF) depending on the applied strength of mechanical strain compared to osteoblasts (HOB). Design HPdLF and HOB were loaded with different strengths (1%, 5% and 10%) of static mechanical strain (SMS) for 12 h in vitro. Viability was verified by MTT and apoptosis by TUNEL assay. Gene expression of cyclin D1, collagen type-1 (COL-I), alkaline phosphatase (ALP), osteocalcin, osteoprotegerin (OPG) and receptor activator of the NF-κB liga…

musculoskeletal diseasesCell SurvivalPeriodontal LigamentGene ExpressionDentistryApoptosisEnzyme-Linked Immunosorbent AssayReal-Time Polymerase Chain ReactionCollagen Type IBone remodelingAndrologyCyclin D1OsteoprotegerinOsteogenesisIn Situ Nick-End LabelingHumansPeriodontal fiberCyclin D1RNA MessengerGeneral DentistryCells CulturedAnalysis of VarianceOsteoblastsTUNEL assaybiologybusiness.industryChemistryRANK LigandOsteoprotegerinCell DifferentiationCell BiologyGeneral MedicineFibroblastsAlkaline PhosphataseOtorhinolaryngologyRANKLOsteocalcinbiology.proteinAlkaline phosphataseStress MechanicalbusinessArchives of Oral Biology
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Functional characterization of osteosarcoma cell lines provides representative models to study the human disease

2011

Cancer cell lines represent in vitro models for studying malignancies, general cell biology, drug discovery and more. Whether they can be considered as exact representative models of the parental tumors remains uncertain given the acquisition of additional ex vivo changes of the cells and the lack of tissue architecture and stroma. Previously, within the EuroBoNeT consortium, we characterized a collection of bone sarcoma cell lines on genomic and proteomic level. Here, we address the phenotypical and functional characterization of the unique set of osteosarcoma cell lines (n=19) in vitro and in vivo. For functional analysis of differentiation capacity, cells were stimulated towards osteobla…

musculoskeletal diseasesPathologymedicine.medical_specialtyMice NudeBone NeoplasmsBiologymedicine.disease_causePathology and Forensic MedicineMiceHuman diseasecontaminationU2OSCell Line TumorMNNGmedicineoriginAnimalsHumansNeoplasm MetastasisneoplasmsMolecular BiologyOsteosarcomaGene Expression ProfilingHOSCell DifferentiationCell Biologymedicine.diseaseImmunohistochemistrytumorigenesisCell cultureCancer geneticsCancer researchOsteosarcomamisidentificationSarcoma ExperimentalSarcomaCarcinogenesisNeoplasm Transplantation
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Sequence analysis of the DRB1 promoter reveals limited polymorphism with no influence on gene expression.

2001

HLA-class II promoters contain a set of conserved regulatory regions necessary for constitutive and induced gene expression. For the HLA-DQB as well as for the DRB1 promoter sequence, polymorphisms with influence on gene expression have been reported. In contrast to these data we could show that there is very limited allele-specific polymorphism among the HLA-DRB1 promoter alleles. In a long range PCR we amplified a DNA sequence containing the promoter and the second exon of the DRB1 gene in one fragment. Nested PCR products of this PCR fragment for the promoter and for the second exon were analysed by DNA sequencing to allow the linkage of a promoter to its DR allele. Most investigated DRB…

musculoskeletal diseasesSequence analysisImmunologyMolecular Sequence DataBiologyPolymerase Chain ReactionCell LineExonSequence Homology Nucleic AcidGeneticsConsensus sequenceHumansTransversionPromoter Regions GeneticGeneGenetics (clinical)GeneticsPolymorphism GeneticBase SequencePoint mutationPromoterDNAHLA-DR AntigensGene Expression RegulationRegulatory sequenceHLA-DRB1 ChainsGenes and immunity
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Type V collagen counteracts osteo-differentiation of human mesenchymal stem cells

2014

In search of novel gene signatures for osteo-differentiation of mesenchymal stem cells (MSCs), we submitted cDNA preparations from undifferentiated and differentiating MSCs to differential display- and semiquantitative-PCR and found down-regulation of COL5A1 in osteo-induced cultures at days 21 and 28, when the mineralized matrix accumulates. We also cultured osteo-differentiating MSCs onto type V collagen substrates and found a decrease in the accumulation of extracellular calcium compared to those grown in uncoated flasks. To our knowledge, this is first evidence that type V collagen might represent a stromal component that impairs osteogenesis.

musculoskeletal diseasesStromal cellchemistry.chemical_elementDown-RegulationBioengineeringBiologyMatrix (biology)CalciumApplied Microbiology and BiotechnologyOsteogenesisGene expressionExtracellularHumansSettore BIO/06 - Anatomia Comparata E CitologiaCells CulturedPharmacologyDifferential displayOsteoblastsGeneral Immunology and MicrobiologyMesenchymal stem cellCell DifferentiationMesenchymal Stem CellsGeneral MedicineMolecular biologychemistryembryonic structurescollagen stem cells osteogenesis gene expressionStem cellCollagen Type VBiotechnology
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Non-conventional forms of HLA-B27 are expressed in spondyloarthritis joints and gut tissue

2016

Objectives Human leukocyte antigen (HLA)-B27 (B27) is the strongest genetic factor associated with development of Ankylosing Spondylitis and other spondyloarthropathies (SpA), yet the role it plays in disease pathogenesis remains unclear. We investigated the expression of potentially pathogenic non-conventional heavy chain forms (NC) of B27 in synovial and intestinal tissues obtained from SpA patients. We also determined the presence of NC-B27 in joints, lymphoid and gastrointestinal tissue from B27 transgenic (TG1) rats with M.tuberculosis-induced SpA. Methods Expression of NC-B27 in human SpA joints and gut and in (21-3 × 283-2)F1 HLA-B27/Huβ2m rat tissue was determined by immunohistochem…

musculoskeletal diseasesalpha-DefensinsHLA-B27 transgenic rat modelGastrointestinal DiseasesCD8 AntigensImmunologyGene ExpressionArticleSpondyloarthropathieAnimalsHumansHLA class I free-heavy chainImmunology and AllergySpondylitis AnkylosingSpondyloarthropathiesskin and connective tissue diseasesHLA-B27 AntigenHLA-B27CD11 AntigensHistocompatibility Antigens Class ISynovial MembraneReceptors KIR3DL2Arthritis ExperimentalR1HLA class I free-heavy chainsRatsDisease Models AnimalSettore MED/16 - ReumatologiaHLA class I free-heavy chains; HLA-B27; HLA-B27 transgenic rat model; Spondyloarthropathies; Immunology and Allergy; ImmunologyBone RemodelingRats Transgenic
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Molecular Effects of the CTG Repeats in Mutant Dystrophia Myotonica Protein Kinase Gene

2008

Myotonic Dystrophy type 1 (DM1) is a multi-system disorder characterized by muscle wasting, myotonia, cardiac conduction defects, cataracts, and neuropsychological dysfunction. DM1 is caused by expansion of a CTG repeat in the 3 untranslated region (UTR) of the Dystrophia Myotonica Protein Kinase (DMPK) gene. A body of work demonstrates that DMPK mRNAs containing abnormally expanded CUG repeats are toxic to several cell types. A core mechanism underlying symptoms of DM1 is that mutant DMPK RNA interferes with the developmentally regulated alternative splicing of defined pre-mRNAs. Expanded CUG repeats fold into ds(CUG) hairpins that sequester nuclear proteins including human Muscleblind-lik…

musculoskeletal diseasescongenital hereditary and neonatal diseases and abnormalitiesThree prime untranslated regionAlternative splicingBiologyMolecular biologyArticleExonchemistry.chemical_compoundCell nucleusmedicine.anatomical_structurechemistryGene expressionGeneticsmedicineGene silencingMBNL1Nuclear proteinGenetics (clinical)Current Genomics
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Development of the first marmoset-specific DNA microarray (EUMAMA): a new genetic tool for large-scale expression profiling in a non-human primate

2007

Abstract Background The common marmoset monkey (Callithrix jacchus), a small non-endangered New World primate native to eastern Brazil, is becoming increasingly used as a non-human primate model in biomedical research, drug development and safety assessment. In contrast to the growing interest for the marmoset as an animal model, the molecular tools for genetic analysis are extremely limited. Results Here we report the development of the first marmoset-specific oligonucleotide microarray (EUMAMA) containing probe sets targeting 1541 different marmoset transcripts expressed in hippocampus. These 1541 transcripts represent a wide variety of different functional gene classes. Hybridisation of …

musculoskeletal diseasesendocrine systemanimal structuresMicroarraylcsh:QH426-470Energy and redox metabolism [NCMLS 4]Bioinformaticslcsh:BiotechnologyMolecular Sequence DataComputational biologyBiologyHippocampus03 medical and health sciences0302 clinical medicinebiology.animallcsh:TP248.13-248.65Gene expressionGeneticsAnimalsBiotinylationTissue DistributionOligonucleotide Array Sequence Analysis030304 developmental biologyExpressed Sequence TagsGenetics0303 health sciencesExpressed sequence tagGenomeGene Expression ProfilingNucleic Acid HybridizationMarmosetCallithrixbiology.organism_classificationCallithrixGene expression profilinglcsh:GeneticsMitochondrial medicine [IGMD 8]Gene Expression RegulationGenetic TechniquesGenBankRNADNA microarrayCellular energy metabolism [UMCN 5.3]human activities030217 neurology & neurosurgeryResearch ArticleBiotechnology
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mRNA expression profiles of primary high-grade central osteosarcoma are preserved in cell lines and xenografts

2011

Abstract Background Conventional high-grade osteosarcoma is a primary malignant bone tumor, which is most prevalent in adolescence. Survival rates of osteosarcoma patients have not improved significantly in the last 25 years. Aiming to increase this survival rate, a variety of model systems are used to study osteosarcomagenesis and to test new therapeutic agents. Such model systems are typically generated from an osteosarcoma primary tumor, but undergo many changes due to culturing or interactions with a different host species, which may result in differences in gene expression between primary tumor cells, and tumor cells from the model system. We aimed to investigate whether gene expressio…

musculoskeletal diseaseslcsh:Internal medicinelcsh:QH426-470Transplantation HeterologousHeterologousBone NeoplasmsBiologyMiceCell Line TumorGene expressionDatabases GeneticGeneticsmedicineAnimalsHumansGenetics(clinical)RNA Messengerlcsh:RC31-1245Survival rateneoplasmsGenetics (clinical)Oligonucleotide Array Sequence AnalysisOsteosarcomaGene Expression Profilingmedicine.diseasePrimary tumorMolecular biologyTransplantationGene expression profilinglcsh:GeneticsCell cultureCancer researchOsteosarcomaResearch ArticleBMC Medical Genomics
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