Search results for " Genes"

showing 10 items of 322 documents

Detection of condition-specific marker genes from RNA-seq data with MGFR

2019

The identification of condition-specific genes is key to advancing our understanding of cell fate decisions and disease development. Differential gene expression analysis (DGEA) has been the standard tool for this task. However, the amount of samples that modern transcriptomic technologies allow us to study, makes DGEA a daunting task. On the other hand, experiments with low numbers of replicates lack the statistical power to detect differentially expressed genes. We have previously developed MGFM, a tool for marker gene detection from microarrays, that is particularly useful in the latter case. Here, we have adapted the algorithm behind MGFM to detect markers in RNA-seq data. MGFR groups s…

Bioinformaticslcsh:MedicineRNA-SeqComputational biologyMarker genesCell fate determinationBiologyMarker geneGeneral Biochemistry Genetics and Molecular BiologyTranscriptomeBioconductor03 medical and health sciences0302 clinical medicineGene expressionSingle cellRNA-SeqTranscriptomicsGene030304 developmental biology0303 health sciencesGeneral Neurosciencelcsh:RCell-type specificityGenomicsGeneral MedicineTissue specificity030220 oncology & carcinogenesisGene expressionR-packageDNA microarrayGeneral Agricultural and Biological SciencesPeerJ
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Wolbachia (alphaproteobacteria: rickettsiales) infections in isolated aphid populations from oceanic islands of the Azores archipelago: revisiting th…

2019

Aphids (Hemiptera: Aphididae) have provided a suitable model to study endosymbionts, their community, and dynamics since the discovery of the obligate endosymbiont Buchnera aphidicola in these organisms. In previous studies, Wolbachia was found in some aphid species. In the present study, we report the prevalence of Wolbachia in aphids sampled from a geographically isolated region (Azores Islands), aiming at a better understanding and characterization of the two newly reported supergroups, M and N. The description of the supergroup M was based on 16S rRNA as well as some protein-coding genes. However, the assignment of the supergroup N was according to 16S rRNA gene sequences of a very few …

Biology.Faculdade de Ciências da VidaAnimalsSymbiosisEcology Evolution Behavior and SystematicsAzoresAphidPhylogenetic analysisEcologyPhylogenetic treeEndosymbiosisfood and beveragesAphididaebiochemical phenomena metabolism and nutritionbiology.organism_classificationHemipteraEvolutionary biologyInsect ScienceAphidsWolbachiaBuchneraSupergroupProtein-coding genes and 16S rRNA genesHorizontal transmissionWolbachia
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Profiling the physiological and molecular response to sulfonamidic drag in Procambarus clarkii

2014

Sulfamethoxazole (SMZ) is one of the most widely employed sulfonamides. Because of the widespread use of SMZ, a considerable amount is indeed expected to be introduced into the environment. The cytotoxicity of SMZ relies mainly on arylhydroxylamine metabolites (S-NOH) of SMZ and it is associated with the production of reactive oxygen species (ROS). There is limited information about the toxic potential of SMZ at the cellular and molecular levels, especially in aquatic and/or non-target organisms. In the present study, the red swamp crayfish (Procambarus clarkii), being tolerant to extreme environmental conditions and resistant to disease, was used as a model organism to profile the molecula…

Blood GlucoseGillsHemocytesAntioxidantSulfamethoxazolePhysiologyHealth Toxicology and Mutagenesismedicine.medical_treatmentHepatopancreasHaemolymphatic parametersAquacultureAstacoideaToxicologyBiochemistryArthropod ProteinsAnti-Infective AgentsRed swamp crayfishStress PhysiologicalGene expressionmedicineAnimalsMetallothioneinHSP70 Heat-Shock ProteinsTissue DistributionAntiossidanti enzymesharmony patio parameters proinflammatory genes red swap crac fish sulfametoxazoleProcambarus clarkiichemistry.chemical_classificationReactive oxygen speciesbiologyGene Expression Regulation DevelopmentalProinflammatory genesCell BiologyGeneral Medicinebiology.organism_classificationBlood Cell CountHsp70FerritinBiochemistrychemistryMolecular ResponseFerritinsbiology.proteinMetallothioneinAntioxidant enzymesOxidoreductasesBiomarkersWater Pollutants Chemical
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miR-29b negatively regulates human osteoclastic cell differentiation and function: Implications for the treatment of multiple myeloma-related bone di…

2013

Skeletal homeostasis relies upon a fine tuning of osteoclast (OCLs)-mediated bone resorption and osteoblast (OBLs)-dependent bone formation. This balance is unsettled by multiple myeloma (MM) cells, which impair OBL function and stimulate OCLs to generate lytic lesions. Emerging experimental evidence is disclosing a key regulatory role of microRNAs (miRNAs) in the regulation of bone homeostasis suggesting the miRNA network as potential novel target for the treatment of MM-related bone disease. Here, we report that miR-29b expression decreases progressively during human OCL differentiation in vitro. We found that lentiviral transduction of miR-29b into OCLs, even in the presence of MM cells,…

Bone diseasePhysiologyCellular differentiationCathepsin KClinical BiochemistryGene ExpressionOsteoclastsOsteolysisMMP9Cathepsin KCells CulturedTartrate-resistant acid phosphataseTumorCulturedReceptor Activator of Nuclear Factor-kappa BGenes fosCell DifferentiationOsteoblastCell biologyIsoenzymesmultiple myelomamedicine.anatomical_structureMatrix Metalloproteinase 9osteoclastMatrix Metalloproteinase 2medicine.medical_specialtyfosCellsAcid PhosphataseBiologyCollagen Type IBone resorptionCell LineOsteoclastCell Line TumorInternal medicinemedicineHumansBone ResorptionOsteoblastsmicroRNA.NFATC Transcription FactorsTartrate-Resistant Acid PhosphatasemiR-29bCell Biologymedicine.diseaseActinsMicroRNAsEndocrinologyGenesAcid Phosphatase; Actins; Bone Resorption; Cathepsin K; Cell Differentiation; Cell Line Tumor; Cells Cultured; Collagen Type I; Gene Expression; Genes fos; Humans; Isoenzymes; Matrix Metalloproteinase 2; Matrix Metalloproteinase 9; MicroRNAs; Multiple Myeloma; NFATC Transcription Factors; Osteoblasts; Osteoclasts; Osteolysis; Receptor Activator of Nuclear Factor-kappa BJournal of Cellular Physiology
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Influence of Age on Cerebral Housekeeping Gene Expression for Normalization of Quantitative Polymerase Chain Reaction after Acute Brain Injury in Mice

2015

To prevent methodological errors of quantitative PCR (qPCR) normalization with reference genes is obligatory. Although known to influence gene expression, impact of age on housekeeping gene expression has not been determined after acute brain lesions such as traumatic brain injury (TBI). Therefore, expression of eight common control genes was investigated at 15 min, 24 h, and 72 h after experimental TBI in 2- and 21-month-old C57Bl6 mice. Expression of β2-microglobulin (B2M), β-actin (ActB), and porphobilinogen deaminase (PBGD) increased after TBI in both ages. β2M demonstrated age-dependent differences and highest inter- and intragroup variations. Expression of cyclophilin A, glyceraldehyd…

Brain ChemistryMaleAgingDNA ComplementaryGenes EssentialInterleukin-6Porphobilinogen deaminaseGene DosageBiologyPolymerase Chain ReactionMolecular biologyHousekeeping geneMice Inbred C57BLMiceCyclophilin AReal-time polymerase chain reactionGene Expression RegulationHypoxanthine-guanine phosphoribosyltransferaseBrain InjuriesReference genesGene expressionAnimalsRNANeurology (clinical)GeneJournal of Neurotrauma
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Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

2014

Introduction More than 70 common alleles are known to be involved in breast cancer (BC) susceptibility, and several exhibit significant heterogeneity in their associations with different BC subtypes. Although there are differences in the association patterns between BRCA1 and BRCA2 mutation carriers and the general population for several loci, no study has comprehensively evaluated the associations of all known BC susceptibility alleles with risk of BC subtypes in BRCA1 and BRCA2 carriers. Methods We used data from 15,252 BRCA1 and 8,211 BRCA2 carriers to analyze the associations between approximately 200,000 genetic variants on the iCOGS array and risk of BC subtypes defined by estrogen re…

Cancer ResearchReceptor ErbB-2Genes BRCA2BRCALOCIGenes BRCA1MODIFIERSVARIANTSErbB-2610 Medical sciences MedicineDuctalReceptorsMedicine and Health SciencesINVESTIGATORSBreastskin and connective tissue diseasesProgesteroneMedicine(all)Carcinoma Ductal BreastMiddle AgedAdult; Aged; Alleles; Breast Neoplasms; Carcinoma; Carcinoma Ductal Breast; Carcinoma Lobular; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Neoplasm Grading; Neoplasm Staging; Receptor ErbB-2; Receptors Estrogen; Receptors Progesterone; Genes BRCA1; Genes BRCA2; Cancer Research; OncologyOncologyReceptors EstrogenTUMOR SUBTYPESFemaleReceptors ProgesteroneReceptorResearch ArticleAdultHeterozygote610Breast NeoplasmsMEDULLARY CARCINOMAOVARIAN-CANCERLobularHumansGenetic Predisposition to DiseaseGENOME-WIDE ASSOCIATIONAllelesAgedNeoplasm StagingAdult; Aged; Alleles; Breast Neoplasms; Carcinoma; Carcinoma Ductal Breast; Carcinoma Lobular; Female; Genetic Predisposition to Disease; Heterozygote; Humans; Middle Aged; Neoplasm Grading; Neoplasm Staging; Receptor ErbB-2; Receptors Estrogen; Receptors Progesterone; Genes BRCA1; Genes BRCA2CONSORTIUMCarcinomaBRCA1EstrogenBRCA2Carcinoma LobularESTROGEN-RECEPTORGenesNeoplasm GradingBreast Cancer Research
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Impact of Different Selection Approaches for Identifying Lynch Syndrome-Related Colorectal Cancer Patients: Unity Is Strength

2022

Lynch syndrome (LS) is an inherited genetic condition associated with increased predisposition to colorectal cancer (CRC) and other tumors and is caused by germline mutations in Mismatch Repair (MMR) or EPCAM genes. The identification of LS carriers is currently based on germline testing of subjects with MMR-deficient (dMMR) tumors or fulfilling clinical criteria, but the most efficient strategies to select patients who should be offered genetic testing are yet not well defined. In order to assess the most suitable selection mode to identify LS-related CRC patients, we retrospectively collected and analyzed all clinical and molecular information of 854 CRC patients, recruited from 2013 to 2…

Cancer Researchmismatch repair genesSettore MED/06 - Oncologia MedicaMMR-deficiency[SDV]Life Sciences [q-bio]MLH1Neoplasms. Tumors. Oncology. Including cancer and carcinogenscolorectal cancerdigestive system diseasesMSH2Lynch syndromeOncologygermline mutationsmicrosatellite instabilityRC254-282Frontiers in Oncology
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Genome-Wide Analyses Identifies Known and New Markers Responsible of Chicken Plumage Color

2020

Simple Summary In order to assess sources of variation related to Polverara breed plumage color (black vs. white), we carried out genome-wide analyses to identify the genomic regions involved in this trait. The present work has revealed new candidate genes involved in the phenotypic variability in local chicken populations. These results also contribute insights into the genetic basis for plumage color in poultry, and confirm the great complexity of the mechanisms that control this trait. Abstract Through the development of the high-throughput genotyping arrays, molecular markers and genes related to phenotypic traits have been identified in livestock species. In poultry, plumage color is a…

Candidate geneCandidate genegenome-wide analysesCandidate genes; Genome-wide analyses; Local chicken populations; Plumage color; SNPSNPSingle-nucleotide polymorphismGenome-wide association studyBiologyArticleFixation indexSettore AGR/17 - Zootecnica Generale E Miglioramento Genetico03 medical and health scienceslcsh:ZoologyGenetic variationlcsh:QL1-991GenotypingLocal chicken population030304 developmental biologyGeneticsGenome-wide analyse0303 health scienceslcsh:Veterinary medicineGeneral Veterinarylocal chicken populations0402 animal and dairy science04 agricultural and veterinary sciencesPhenotypic traitlocal chicken populations; genome-wide analyses; SNP; plumage color; candidate genes040201 dairy & animal sciencePlumage colorPlumagelcsh:SF600-1100Animal Science and Zoologycandidate genesAnimals
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Genetic analysis of dyslexia candidate genes in the European cross-linguistic NeuroDys cohort

2013

The work conducted at the WTCHG was supported by Wellcome Trust grants [076566/Z/05/Z] and [075491/Z/04]; the work in Zurich partly by an SNSF grant [32-108130]. We also thank MAF (Mutation Analysis core Facility) at the Karolinska Institute, Novum, Huddinge. The French part of the project was funded by Agence Nationale de la Recherche (ANR-06-NEURO-019-01 GENEDYS) and Ville de Paris. S Paracchini is a Royal Society University Research Fellow. D Czamara was supported by the Deutsche Forschungsgemeinschaft (German Research Foundation) within the framework of the Munich Cluster for Systems Neurology (EXC 1010 SyNergy). Dyslexia is one of the most common childhood disorders with a prevalence o…

Candidate geneDyslexia10064 Neuroscience Center Zurich10. No inequalityGenetics (clinical)ta515Geneticseducation.field_of_study10093 Institute of PsychologyR10058 Department of Child and Adolescent Psychiatry3. Good healthAssociation studyPhenotype10076 Center for Integrative Human PhysiologyWord-reading[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]Reading disability2716 Genetics (clinical)GenotypePopulationLocus (genetics)610 Medicine & healthSpellingQH426 GeneticsBDYBiologyR Medicineta3111Polymorphism Single NucleotideArticleCandidate genesQuantitative Trait HeritableMeta-Analysis as Topic1311 GeneticsDCDC2mental disordersGeneticsmedicineHumanseducationQH426Genetic Association StudiesGenetic associationHaplotypeDyslexiamedicine.diseaseHaplotypesGenetic LociCase-Control Studies570 Life sciences; biology150 PsychologyGenome-Wide Association Study
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THE ROLE OF INFLAMMATION IN TYPE A AORTIC DISSECTION: A PILOT STUDY

2013

Type A aortic dissection (TAAD) is a severe cardiovascular disease with high mortality rates. Current evidence suggests inflammation as the main mechanism of its complex pathophysiology. Accordingly, in this study the eventual presence of inflammatory cells in aorta specimens and any contribution of these cells in both apoptosis and metalloproteinase levels were assessed. The potential relationship between plasma inflammatory molecules and TAAD was also detected. In addition, implication in TAAD susceptibility of ten common and functional single nucleotide polymorphisms (SNP)s of six candidate genes (CCR5, TLR4, ACE, eNOs, MMP-9 and −2) was determined. Thus, histo-pathological and immunois…

Candidate genePathologymedicine.medical_specialtyImmunologylcsh:MedicineInflammationSingle-nucleotide polymorphismEnosmedicine.arterymedicineeNOsTAAD inflammation inflammatory molecules and genetic factors SNPs of ACE eNOs MMP-2-9 genesImmunology and AllergySettore MED/05 - Patologia ClinicaInflammatory molecules and genetic factorsAortic dissectionInflammationTAADAortabiologyMMP-2lcsh:RSettore MED/23 - Chirurgia Cardiacamedicine.diseasebiology.organism_classification-9 genesPathophysiologyeNOs; Inflammation; Inflammatory molecules and genetic factors; MMP-2-9 genes; SNPs of ACE; TAAD; Immunology and Allergy; ImmunologyTLR4SNPs of ACEmedicine.symptom
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