Search results for "binding proteins"

showing 10 items of 911 documents

Differential expression of PGC-1α and metabolic sensors suggest age-dependent induction of mitochondrial biogenesis in Friedreich ataxia fibroblasts.

2011

11 pages, 6 figures. PMID:21687738[PubMed] PMCID: PMC3110204

MaleAgingMitochondrial DiseasesMitochondrial MyopathyUbiquinoneCardiomyopathylcsh:MedicineMitochondrionAMP-Activated Protein Kinasesp38 Mitogen-Activated Protein KinasesAntioxidantsAdenosine TriphosphateAMP-activated protein kinaseTrinucleotide RepeatsFibrosisMolecular Cell BiologyChildlcsh:ScienceHeat-Shock ProteinsRegulation of gene expressionMultidisciplinaryMovement DisordersbiologyNeuromuscular DiseasesMiddle AgedCatalasePeroxisome Proliferator-Activated Receptor Gamma Coactivator 1-alphaCell biologyMitochondriaDNA-Binding ProteinsNeurologyDisease ProgressionMedicineFemalemedicine.symptomSignal TransductionResearch ArticleAdultcongenital hereditary and neonatal diseases and abnormalitiesAtaxiaAdolescentMitochondrial ProteinsmedicineGeneticsHumansBiologyAllelesGlutathione PeroxidaseSuperoxide Dismutaselcsh:RHuman GeneticsFibroblastsmedicine.diseaseMolecular biologyOxidative StressMitochondrial biogenesisGene Expression RegulationFriedreich Ataxiabiology.proteinFrataxinlcsh:QEnergy MetabolismReactive Oxygen SpeciesTranscription FactorsPLoS ONE
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Aging-induced Up-regulation of Nuclear Binding Activities of Oxidative Stress Responsive NF-kB Transcription Factor in Mouse Cardiac Muscle

1996

The accumulation of lipofuscin to cardiomyocytes is a classical parameter of aging and is believed to reflect oxidative stress. NF-kB transcription factor complex is one of the cellular sensors which responds to oxidative stress and regulates gene expression. Our purpose was to study whether aging affects the level and distribution of DNA binding activities of NF-kB transcription factors both in cardiac sarcoplasm and nuclear extracts. We used electrophoretic mobility shift assays (EMSA) to characterize the DNA binding activities of NF-kB and two other transcription factors. AP-1 and Sp-1, in the myocardium of 4 months and 24 months old male and female NMRI-mice. The protein levels of p50, …

MaleAgingP50Sp1 Transcription FactorSarcoplasmDown-RegulationTranscription factor complexBiologymedicine.disease_causeMiceNF-KappaB Inhibitor alphaGene expressionmedicineAnimalsMolecular BiologyTranscription factorCell NucleusMyocardiumNF-kappa BTranscription Factor RelACardiac muscleNF-kappa B p50 SubunitNF-kappa B p50 SubunitMolecular biologyUp-RegulationDNA-Binding ProteinsTranscription Factor AP-1Oxidative Stressmedicine.anatomical_structureFemaleI-kappa B ProteinsCardiology and Cardiovascular MedicineOxidative stressJournal of Molecular and Cellular Cardiology
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Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis

2021

Mastocytosis is a rare myeloid neoplasm characterized by uncontrolled expansion of mast cells, driven in >80% of affected individuals by acquisition of the KIT D816V mutation. To explore the hypothesis that inherited variation predisposes to mastocytosis, we performed a two-stage genome-wide association study, analyzing 1,035 individuals with KIT D816V positive disease and 17,960 healthy control individuals from five European populations. After quality control, we tested 592,007 SNPs at stage 1 and 75 SNPs at stage 2 for association by using logistic regression and performed a fixed effects meta-analysis to combine evidence across the two stages. From the meta-analysis, we identified three …

MaleAmino Acid Transport System y+TERTReceptors Cytoplasmic and NuclearGenome-wide association studySingle-nucleotide polymorphismDiseaseBiologyQuantitative trait locusPolymorphism Single NucleotideGermlineArticleGenetic variationCEBPACEBPAGeneticsHumansTBL1XR1Genetic Predisposition to DiseaseGeneTelomeraseGenetics (clinical)GeneticsInterleukin-13KITIntronsRepressor ProteinsProto-Oncogene Proteins c-kitD816VCebpa ; D816v ; Kit ; Mastocytosis ; Myeloid Cancer ; Tbl1xr1 ; TertCCAAT-Enhancer-Binding ProteinsDNA IntergenicFemaleRNA Long NoncodingTryptasesMyeloid cancerMastocytosisGenome-Wide Association Study
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Common variants of the liver fatty acid binding protein gene influence the risk of type 2 diabetes and insulin resistance in Spanish population.

2012

Journal Article; Research Support, Non-U.S. Gov't; SUMMARY The main objective was to evaluate the association between SNPs and haplotypes of the FABP1-4 genes and type 2 diabetes, as well as its interaction with fat intake, in one general Spanish population. The association was replicated in a second population in which HOMA index was also evaluated. METHODS 1217 unrelated individuals were selected from a population-based study [Hortega study: 605 women; mean age 54 y; 7.8% with type 2 diabetes]. The replication population included 805 subjects from Segovia, a neighboring region of Spain (446 females; mean age 52 y; 10.3% with type 2 diabetes). DM2 mellitus was defined in a similar way in b…

MaleAnatomy and PhysiologyEspañaDiabetes Mellitus Tipo 2:Named Groups::Persons::Age Groups::Adult::Middle Aged [Medical Subject Headings]Type 2 diabetesResistencia a la InsulinaVariación Genética:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Probability::Risk::Risk Factors [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genotype::Haplotypes [Medical Subject Headings]:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]EndocrinologyPolymorphism (computer science)Risk FactorsAnálisis de RegresiónFactores de Riesgo:Geographicals::Geographic Locations::Europe::Spain [Medical Subject Headings]Geneticseducation.field_of_studyMultidisciplinaryAdultoQRMiddle AgedCardiovascular Diseases:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Diabetes Mellitus::Diabetes Mellitus Type 2 [Medical Subject Headings]Regression AnalysisMedicineFemale:Phenomena and Processes::Genetic Phenomena::Genotype [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation [Medical Subject Headings]Fatty Acid Binding Protein 3Research ArticleAdult:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Mutation [Medical Subject Headings]GenotypeSciencePopulation:Check Tags::Male [Medical Subject Headings]Single-nucleotide polymorphismEndocrine SystemBiologyFatty Acid-Binding ProteinsPolymorphism Single Nucleotide:Diseases::Nutritional and Metabolic Diseases::Metabolic Diseases::Glucose Metabolism Disorders::Hyperinsulinism::Insulin Resistance [Medical Subject Headings]Insulin resistanceGenetic variation:Named Groups::Persons::Age Groups::Adult [Medical Subject Headings]medicineGeneticsHumans:Named Groups::Persons::Age Groups::Adult::Aged [Medical Subject Headings]education:Diseases::Cardiovascular Diseases [Medical Subject Headings]Biology:Phenomena and Processes::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Alleles [Medical Subject Headings]AllelesAgedDiabetic Endocrinology:Analytical Diagnostic and Therapeutic Techniques and Equipment::Investigative Techniques::Epidemiologic Methods::Statistics as Topic::Regression Analysis [Medical Subject Headings]:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic::Polymorphism Single Nucleotide [Medical Subject Headings]Polymorphism GeneticEndocrine PhysiologyHaplotypeGenetic Variation:Phenomena and Processes::Genetic Phenomena::Genetic Variation::Polymorphism Genetic [Medical Subject Headings]medicine.diseaseObesity:Chemicals and Drugs::Amino Acids Peptides and Proteins::Proteins::Carrier Proteins::Fatty Acid-Binding Proteins [Medical Subject Headings]:Check Tags::Female [Medical Subject Headings]Diabetes Mellitus Type 2HaplotypesSpainMetabolic DisordersMutationInsulin ResistancePopulation GeneticsPloS one
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Altered lipid metabolism in a Drosophila model of Friedreich's ataxia

2010

13 páginas, 5 figuras.-- et al.

MaleAtaxiaCell SurvivalLipid Metabolism Disordersmedicine.disease_causeNervous SystemAnimals Genetically ModifiedLipid peroxidationchemistry.chemical_compoundDownregulation and upregulationIron-Binding ProteinsLipid dropletGeneticsmedicineAnimalsDrosophila ProteinsHumansMolecular BiologyGenetics (clinical)Membrane GlycoproteinsbiologyCélulas glialesFatty AcidsLipid metabolismArticlesGeneral MedicineCell biologyDisease Models AnimalOxidative Stressmedicine.anatomical_structurechemistryBiochemistryFriedreich AtaxiaFrataxinbiology.proteinNeurogliaDrosophilaLipid Peroxidationmedicine.symptomCarrier ProteinsNeurogliaOxidative stress
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The Different Immune Profiles of Normal Colonic Mucosa in Cancer-Free Lynch Syndrome Carriers and Lynch Syndrome Colorectal Cancer Patients.

2021

ABSTRACT Background and aims Due to the high load of immunogenic frameshift neoantigens, tumors arising in individuals with Lynch syndrome (LS), the most common inherited colorectal cancer (CRC) syndrome, are characterized by a pronounced immune infiltration. However, the immune status of normal colorectal mucosa in LS is not well characterized. We assessed the immune infiltrate in tumor-distant normal colorectal mucosa from LS CRC patients, sporadic microsatellite-unstable (MSI) and microsatellite-stable (MSS) CRC patients, and cancer-free LS carriers. Methods CD3-positive, FOXP3-positive and CD8-positive T cells were quantified in 219, 233 and 201 formalin-fixed paraffin-embedded (FFPE) n…

MaleCD3 ComplexColorectal cancerT-LymphocytesCD8-Positive T-LymphocytesT-Lymphocytes Regulatory0302 clinical medicineIntestinal MucosaMismatch Repair Endonuclease PMS2Aged 80 and over0303 health sciencesbiologyGastroenterologyFOXP3Forkhead Transcription FactorsMiddle AgedLynch syndrome3. Good healthDNA-Binding Proteinsmedicine.anatomical_structureMutS Homolog 2 Protein030220 oncology & carcinogenesisFemaleMicrosatellite InstabilityMutL Protein Homolog 1AdultHeterozygoteColonT cellCD303 medical and health sciencesYoung AdultImmune systemmedicineHumansLymphocyte Count030304 developmental biologyAgedHepatologybusiness.industryCarcinomaRectumCancerMicrosatellite instabilitymedicine.diseaseColorectal Neoplasms Hereditary NonpolyposisCancer researchbiology.proteinbusinessTranscriptomeGastroenterology
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Expression of serologically identified tumor antigens in acute leukemias.

2003

Cancer/testis antigens (CTA) are an expanding family of immunogenic proteins selectively expressed in human neoplasms. As little is known about the expression of serologically identified CTA in leukemias so far, we investigated the expression of 5 CT genes (SSX-1, HOM-MEL-40/SSX-2, HOM-TES-14/SCP-1, SCP-3 and NY-ESO-1) in leukemic blood samples obtained from patients with either acute lymphatic leukemias (ALL) or myelocytic leukemia (AML). RT-PCR-analyses showed no expression of any of the CT-genes in the leukemia samples of 19 patients with AML, whereas frequent expression was found in ALL. In the 17 ALL cases studied, SCP3a, SSX-1, HOM-MEL-40/SXX-2 and HOM-TES-14/SCP-1 were expressed in 4…

MaleCancer ResearchCell Cycle ProteinsSerologyAntigenTesticular NeoplasmsAntigens Neoplasmhemic and lymphatic diseasesBiomarkers TumorMedicineHumansRNA MessengerGeneDNA Primersbusiness.industryGene Expression Regulation LeukemicReverse Transcriptase Polymerase Chain ReactionCancerMembrane ProteinsNuclear ProteinsProteinsHematologyPrecursor Cell Lymphoblastic Leukemia-Lymphomamedicine.diseaseNeoplasm ProteinsDNA-Binding ProteinsRepressor ProteinsLeukemiaLeukemia Myeloid AcuteLymphatic systemOncologyImmunologyCancer/testis antigensMyelocytic leukemiabusinessLeukemia research
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SPOC1, a novel PHD-finger protein: association with residual disease and survival in ovarian cancer.

2005

We report the identification of a novel human gene (SPOC1) which encodes a protein with a PHD-finger domain. The gene is located in chromosomal region 1p36.23, a region implicated in tumor development and progression. RNA in situ hybridization experiments showed strong SPOC1 expression in some rapidly proliferating cell types, such as spermatogonia, but not in nonproliferating mature spermatocytes. In addition, high SPOC1 mRNA expression was observed in several ovarian cancer cell lines. This prompted us to systematically examine SPOC1 expression in ovarian cancer in relation to prognosis. SPOC1 mRNA expression was quantified in tumor tissue of 103 patients with epithelial ovarian cancer. I…

MaleCancer ResearchCell typePathologymedicine.medical_specialtyMolecular Sequence DataIn situ hybridizationBiologymedicineBiomarkers TumorHumansAmino Acid SequenceRNA MessengerSurvival analysisIn Situ HybridizationAgedCell ProliferationOvarian NeoplasmsProportional hazards modelGene Expression ProfilingMiddle Agedmedicine.diseasePrognosisMinimal residual diseaseSurvival AnalysisSpermatogoniaGene expression profilingDNA-Binding ProteinsOncologyChromosomal regionCancer researchFemaleProteoglycansOvarian cancerInternational journal of cancer
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Amplification of ETS2 oncogene in acute nonlymphoblastic leukemia with t(6;21;18).

1992

Cytogenetic and molecular studies in a case of acute nonlymphoblastic leukemia (ANLL) are reported in this paper. Bone marrow blasts carried a hypodiploid karyotype with a complex t(6;18;21)(6qter----6p21::21q22----21qter;18qter ----18p11::6p22----6pter; 21pter----21q22::6p21----6p22::18p11----18pte r) and other numerical and structural changes. We studied the organization and the expression of the ETS2 gene which is located on chromosome 21 in order to investigate its possible involvement in the disease. DNA analysis showed a 20-fold amplification of ETS2 sequences; an increase of 3- to 4-fold in the mRNAs level compared to normal was shown by Northern hybridization.

MaleCancer ResearchChromosomes Human Pair 21Chromosomal translocationBiologyTranslocation GeneticProto-Oncogene Protein c-ets-2Proto-Oncogene ProteinsGene duplicationGeneticsmedicineHumansNorthern blotMolecular BiologySouthern blotAgedChromosome AberrationsOncogeneGene AmplificationKaryotypeProtein-Tyrosine KinasesBlotting NorthernMolecular biologyDNA-Binding ProteinsRepressor ProteinsBlotting SouthernLeukemia Myeloid Acutemedicine.anatomical_structureCancer researchTrans-ActivatorsChromosomes Human Pair 6Bone marrowChromosome 21Chromosomes Human Pair 18Transcription FactorsCancer genetics and cytogenetics
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Cytogenetic and molecular findings related to rhabdomyosarcoma. An analysis of seven cases.

2003

Rhabdomyosarcoma (RMS) is the most common soft-tissue sarcoma in childhood. Histologically, it is subdivided histologically into two main subtypes: alveolar (ARMS) and embryonal (ERMS). ARMS is characterized by t(2;13)(q35;q14) or its variant t(1;13)(p36;q14), which fuse PAX3 and PAX7, respectively, with FKHR to produce chimeric genes. ERMS is frequently associated with loss of heterozygosity of 11p15.5. We investigated seven RMS (three ARMS and four ERMS) by means of cytogenetic, fluorescence in situ hybridization, and molecular analyses, including the study of the main genes implicated in the G1- to S-phase cell cycle transition, and correlated these studies with pathologic findings and c…

MaleCancer ResearchPAX3Genes mycLocus (genetics)Chimeric geneBiologyLoss of heterozygosityGene duplicationRhabdomyosarcomaGeneticsmedicineHumansPaired Box Transcription FactorsRhabdomyosarcomaChildMolecular BiologyPAX3 Transcription FactorIn Situ Hybridization FluorescenceChromosome AberrationsHomeodomain Proteinsmedicine.diagnostic_testForkhead Box Protein O1Hybridization probePAX7 Transcription FactorForkhead Transcription Factorsmedicine.diseaseMolecular biologyDNA-Binding ProteinsChild PreschoolFemaleFluorescence in situ hybridizationTranscription FactorsCancer genetics and cytogenetics
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