Search results for " Genes"

showing 10 items of 322 documents

Functional characterization of the enhancer blocking element of the sea urchin early histone gene cluster reveals insulator properties and three esse…

2000

Insulator elements can be functionally identified by their ability to shield promoters from regulators in a position-dependent manner or their ability to protect adjacent transgenes from position effects. We have previously reported the identification of a 265 bp sns DNA fragment at the 3' end of the sea urchin H2A early histone gene that blocked expression of a reporter gene in transgenic embryos when placed between the enhancer and the promoter. Here we show that sns interferes with enhancer-promoter interaction in a directional manner. When sns is placed between the H2A modulator and the inducible tet operator, the modulator is barred from interaction with the basal promoter. However, th…

animal structuresenhancer blockingMolecular Sequence DataDNA FootprintingSettore BIO/11 - Biologia MolecolareBiologyRegulatory Sequences Nucleic AcidinsulatorBinding CompetitiveHistonesStructural BiologyTranscription (biology)Gene clustermicroinjectionAnimalsDeoxyribonuclease IH2A enhancerGene SilencingTransgenesEnhancerDownstream EnhancerPromoter Regions GeneticMolecular BiologyTranscription factorRepetitive Sequences Nucleic AcidSequence DeletionReporter geneBase SequenceActivator (genetics)PromoterDNAhistone genesMolecular biologyCell biologyDNA-Binding ProteinsEnhancer Elements GeneticMultigene FamilySea UrchinsProtein Binding
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Identification of genes activated during arbuscular mycorrhiza interactions by suppressive substractive hybridisation and cloning of differential exp…

2000

International audience

arbuscular mycorrhiza interactions[SDV] Life Sciences [q-bio][SDV]Life Sciences [q-bio]suppressive substractive hybridisationIdentification of genes activatedComputingMilieux_MISCELLANEOUScloning of differential expresed cDNA
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Type 1 Diabetes and Autoimmune Thyroid Disease—The Genetic Link

2021

Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD) are the most frequent chronic autoimmune diseases worldwide. Several autoimmune endocrine and non-endocrine disorders tend to occur together. T1D and AITD often cluster in individuals and families, seen in the formation of autoimmune polyendocrinopathy (AP). The close relationship between these two diseases is largely explained by sharing a common genetic background. The HLA antigens DQ2 (DQA1*0501-DQB1*0201) and DQ8 (DQA1*0301-DQB1*0302), tightly linked with DR3 and DR4, are the major common genetic predisposition. Moreover, functional single nucleotide polymorphisms (or rare variants) of various genes, such as the cytotoxic T-lym…

autoimmune polyendocrinopathyendocrine system diseasestype 1 diabetesEndocrinology Diabetes and MetabolismSingle-nucleotide polymorphismGenome-wide association studyCLEC16AHuman leukocyte antigenReviewBiologyPolymorphism Single Nucleotidelcsh:Diseases of the endocrine glands. Clinical endocrinologyPTPN22single nucleotide polymorphismsEndocrinologyimmune system diseasesGenetic predispositionHumansGenetic Predisposition to Diseasesusceptibility genesHLA antigensgenetic linkGeneticslcsh:RC648-665Thyroiditis AutoimmuneFOXP3nutritional and metabolic diseasesAutoimmune polyendocrinopathyDiabetes Mellitus Type 1autoimmune thyroid diseaseFrontiers in Endocrinology
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The increase in maternal expression of axin1 and axin2 contribute to the zebrafish mutant ichabod ventralized phenotype.

2014

β-Catenin is a central effector of the Wnt pathway and one of the players in Ca(+)-dependent cell-cell adhesion. While many wnts are present and expressed in vertebrates, only one β-catenin exists in the majority of the organisms. One intriguing exception is zebrafish that carries two genes for β-catenin. The maternal recessive mutation ichabod presents very low levels of β-catenin2 that in turn affects dorsal axis formation, suggesting that β-catenin1 is incapable to compensate for β-catenin2 loss and raising the question of whether these two β-catenins may have differential roles during early axis specification. Here we identify a specific antibody that can discriminate selectively for β-…

axin1axin2zebrafish mutant ichabodMessengerEmbryonic DevelopmentBiochemistryBETA-CATENINAxin2-RGS DOMAINAxin ProteinAntibody SpecificitySettore BIO/10 - BiochimicaAnimalsAxin2-RGS DOMAIN; AXIS FORMATION; BETA-CATENIN; Wnt signaling; ZEBRAFISH; Animals; Antibody Specificity; Axin Protein; Blastula; Cell Nucleus; Embryonic Development; Female; Gene Expression Regulation Developmental; Genes Dominant; Immunohistochemistry; Lithium Chloride; Mutation; Phenotype; Protein Stability; Protein Transport; RNA Messenger; Signal Transduction; Up-Regulation; Zebrafish; Zebrafish Proteins; beta Catenin; Biochemistry; Cell Biology; Molecular BiologyDevelopmentalDominantRNA MessengerMolecular BiologyZebrafishbeta CateninGenes DominantAXIS FORMATIONCell NucleusProtein StabilityGene Expression Regulation DevelopmentalCell BiologyBlastulaZebrafish ProteinsWnt signalingImmunohistochemistryUp-RegulationProtein TransportPhenotypeGene Expression RegulationGenesMutationRNAFemaleLithium ChlorideSignal Transduction
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The C-X-C Motif Chemokine Ligand 1 Sustains Breast Cancer Stem Cell Self-Renewal and Promotes Tumor Progression and Immune Escape Programs

2021

Breast cancer (BC) mortality is mainly due to metastatic disease, which is primarily driven by cancer stem cells (CSC). The chemokine C-X-C motif ligand-1 (CXCL1) is involved in BC metastasis, but the question of whether it regulates breast cancer stem cell (BCSC) behavior is yet to be explored. Here, we demonstrate that BCSCs express CXCR2 and produce CXCL1, which stimulates their proliferation and self-renewal, and that CXCL1 blockade inhibits both BCSC proliferation and mammosphere formation efficiency. CXCL1 amplifies its own production and remarkably induces both tumor-promoting and immunosuppressive factors, includingSPP1/OPN,ACKR3/CXCR7,TLR4,TNFSF10/TRAILandCCL18and, to a lesser exte…

breast cancer stem cellsQH301-705.5animal diseasesSettore MED/50 - Scienze Tecniche Mediche ApplicatechemokinesBiologyCXCR4MetastasisCell and Developmental Biologyimmunity geneCancer stem cellmedicinetumor microenvironmentCXC chemokine receptorsBiology (General)immunity genesTriple-negative breast cancerTumor microenvironmentbreast cancer stem cellchemokineCell BiologyBrief Research Reportrespiratory systemmedicine.diseaseCXCL1Tumor progressiontriple-negative breast cancerCancer researchCCL28Settore MED/46 - Scienze Tecniche Di Medicina Di LaboratorioDevelopmental BiologyFrontiers in Cell and Developmental Biology
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Correcting for the study bias associated with protein-protein interaction measurements reveals differences between protein degree distributions from …

2015

Protein–protein interaction (PPI) networks are associated with multiple types of biases partly rooted in technical limitations of the experimental techniques. Another source of bias are the different frequencies with which proteins have been studied for interaction partners. It is generally believed that proteins with a large number of interaction partners tend to be essential, evolutionarily conserved, and involved in disease. It has been repeatedly reported that proteins driving tumor formation have a higher number of PPI partners. However, it has been noticed before that the degree distribution of PPI networks is biased toward disease proteins, which tend to have been studied more often …

cancer genesstudy biasGeneticsprotein–protein interactionsdegree distributionnetwork analysisOriginal ResearchFrontiers in genetics
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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Data…

2021

Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic …

cancer incidence0302 clinical medicineMalalties hereditàriesMissense mutation8Q23.3CàncerCancerGenetics0303 health sciencesmedicine.diagnostic_testFactors de risc en les malaltiesMISMATCH REPAIR GENESRMLH1General MedicinePenetranceLynch syndrome3. Good healthsyöpägeenit030220 oncology & carcinogenesisMedicinesyöpätauditilmaantuvuusGenetic diseasescongenital hereditary and neonatal diseases and abnormalitiesmissense11Q23.1Risk factors in diseasesCANCER-RISKMLH1Articleaberrant splicing03 medical and health sciencesAGEmedicineGenetic predispositionddc:610<i>MSH2</i>Lynchin oireyhtymäpenetrance030304 developmental biologyGenetic testingMLH1; MSH2; penetrance; cancer incidence; truncating; missense; aberrant splicing; Lynch syndromeperinnölliset tauditbusiness.industryMUTATIONSHMSH2Cancernutritional and metabolic diseasesmedicine.diseasedigestive system diseasesMSH2Lynch syndromeMSH23121 General medicine internal medicine and other clinical medicine<i>MLH1</i>businesstruncating
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Prognostic Impact of let-7e MicroRNA and Its Target Genes in Localized High-Risk Intestinal GIST: A Spanish Group for Research on Sarcoma (GEIS) Study

2020

MicroRNAs (miRNAs) are small non-coding RNAs that negatively regulate gene expression at the post-transcriptional level, and they have been described as being associated with tumor prognosis. Here, miRNA profiling was planned to explore new molecular prognostic biomarkers in localized intestinal high-risk GIST. Paraffin tumor blocks of 14 and 86 patients were used in the discovery and expansion sets, respectively. GeneChip miRNA v3.0 was employed to identify the miRNAs differentially expressed between relapsed and non-relapsed patient samples, which were validated in the expansion set, by qRT-PCR. RT2 Profiler PCR Array was used for the screening of let-7e targets. Expression levels were co…

caspase-3Cancer Research<i>let-7e</i>Biologylcsh:RC254-282prognostic biomarkers:Phenomena and Processes::Genetic Phenomena::Genetic Processes::Gene Expression [Medical Subject Headings]miR-550:Organisms::Eukaryota::Animals::Chordata::Vertebrates::Mammals::Primates::Haplorhini::Catarrhini::Hominidae::Humans [Medical Subject Headings]:Chemicals and Drugs::Enzymes and Coenzymes::Enzymes::Hydrolases::Peptide Hydrolases::Endopeptidases::Cysteine Endopeptidases::Caspases::Caspases Effector::Caspase 3 [Medical Subject Headings]microRNAGene expressionmedicine:Chemicals and Drugs::Biological Factors::Biological Markers [Medical Subject Headings]Mirna profilingGastrointestinal stromal tumors:Chemicals and Drugs::Organic Chemicals::Hydrocarbons::Paraffin [Medical Subject Headings]GeneACVR1B:Diseases::Neoplasms::Neoplasms by Histologic Type::Neoplasms Connective and Soft Tissue::Neoplasms Connective Tissue::Gastrointestinal Stromal Tumors [Medical Subject Headings]MicroARNsGiSTTumores del estroma gastrointestinalPronósticoMicroRNAlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensmedicine.diseasePrognosislet-7e:Chemicals and Drugs::Nucleic Acids Nucleotides and Nucleosides::Antisense Elements (Genetics)::RNA Antisense::MicroRNAs [Medical Subject Headings]BiomarcadoresOncologyPrognostic biomarkersCaspase-3<i>miR-550</i>Gene chip analysisCancer research:Analytical Diagnostic and Therapeutic Techniques and Equipment::Diagnosis::Prognosis [Medical Subject Headings]Target genesSarcomaGIST
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Estimation of the density of the protocatechuate-degrading bacterial community in soil by real-time PCR

2008

Summary The β-ketoadipate pathway is the major route for degradation of aromatic compounds by various soil microorganisms. Protocatechuate 3,4-dioxygenase, a key enzyme of this pathway and which is encoded by pcaGH genes, catalyses the ring cleavage of protocatechuate. Microorganisms harbouring pcaGH genes are widely distributed in the environment but little is known about their relative abundance within the total microflora. Hence, this paper reports the development of a real-time PCR assay to quantify the bacterial pcaH sequence that encodes the β sub-unit of the protocatechuate 3,4-dioxygenase. This real-time PCR assay was linear over seven orders of magnitude with a calculated efficienc…

chemistry.chemical_classificationENVIRONMENTEXTRACTIONMicroorganism34-DIOXYGENASESoil dnaDIVERSITYSoil ScienceBETA-KETOADIPATE PATHWAY AGROBACTERIUM-TUMEFACIENS GENESAmpliconBiologyDEGRADATIONQUANTIFICATION[SDV.SA.SDS]Life Sciences [q-bio]/Agricultural sciences/Soil studyCleavage (embryo)Molecular biologyAmino acidReal-time polymerase chain reactionEnzymechemistryPCAHGene
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DOES POLYGENIC RISK SCORE FOR SCHIZOPHRENIA IMPACT ON JUMPING TO CONCLUSIONS? PRELIMINARY FINDINGS FROM THE EU-GEI CASE-CONTROL STUDY

2019

Background: Jumping to conclusions (JTC) is a reasoning and data gathering bias that results in the tendency to require less evidence and make hasty decisions. Preliminary work on reasoning bias focused primarily on the association with delusions, although jumping to conclusions has also been found in non-deluded schizophrenia (SZ) patients. Literature to date has shown JTC as a well-established bias in psychosis even at First Episode Psychosis (FEP), after remission, and in individuals with at risk mental state. Furthermore, JTC has been found to be associated with proneness to psychotic-like experiences in the general population. In teresting findings showed also an association with lower…

cognition genes schizopreniaSettore MED/25 - Psichiatria
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