Search results for "Genome"

showing 10 items of 1913 documents

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

2013

Author version made available in accordance with the publisher's policy.

Candidate geneRefractive errorBone Morphogenetic Protein 2Genome-wide association studyVARIANTSGenomeGenome-wide association studies0302 clinical medicineRisk FactorsMyopiaGRIA4Genetics0303 health sciencesKCNQ Potassium ChannelsDisease geneticsEYE GROWTHASSOCIATIONRETINAL-PIGMENT EPITHELIUMRefractive ErrorsGenetic load3. Good healthADAPTED MOUSE RETINAMeta-analysisACIDPOTASSIUM CHANNELEXPRESSIONSingle-nucleotide polymorphismBiologyWhite PeopleArticle03 medical and health sciencesAsian PeoplemedicineGeneticsHumansGenetic Predisposition to DiseaseReceptors AMPAgene; myopia; refractive030304 developmental biologyHomeodomain Proteinsta1184ta3121medicine.diseaseGENEAlcohol OxidoreductasesSERINE-PROTEASEbiology.protein030221 ophthalmology & optometrySusceptibility locusTrans-ActivatorsEye disorderLamininSerine ProteasesGWAS; meta-analyses; refractive error; myopiaGenome-Wide Association StudyNature Genetics
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Genome-wide diversity of Pagliarola sheep residual population and its conservation implication

2021

Local breeds represent an underestimated resource in terms not only of their important cultural and economical role in marginal areas, but also because they often own a potential genetic pool well adapted to extreme conditions. This fact is of increasing interest, especially when considering climate global challenges where peculiar and uncommon traits could be advantageous. In this study, we genotyped 24 individuals belonging to the small residual Pagliarola sheep population using the OvineSNP50K array, in order to compare its genomic architecture with other 21 Italian local breeds. Moreover, we performed the fixation index (FST) outlier analysis to identify genes most differentiated betwee…

Candidate geneResource (biology)media_common.quotation_subjectPopulationBiologyGenomeSF1-1100Settore AGR/17 - Zootecnica Generale E Miglioramento GeneticoSNPcandidate genes; genetic diversity; Local sheep; population structure; SNPeducationmedia_commonGenetic diversityeducation.field_of_studycandidate genes genetic diversity Local sheep population structure SNPlocal sheeppopulation structuresnpgenetic diversityAnimal cultureSettore MED/38 - PEDIATRIA GENERALE E SPECIALISTICAEvolutionary biologyAnimal Science and ZoologyGene poolcandidate genesDiversity (politics)Italian Journal of Animal Science
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Genome-Wide SNP Analysis Reveals the Population Structure and the Conservation Status of 23 Italian Chicken Breeds

2020

The genomic variability of local Italian chicken breeds, which were monitored under a conservation plan, was studied using single nucleotide polymorphisms (SNPs) to understand their genetic diversity and population structure. A total of 582 samples from 23 local breeds and four commercial stocks were genotyped using the Affymetrix 600 K Chicken SNP Array. In general, the levels of genetic diversity, investigated through different approaches, were lowest in the local chicken breeds compared to those in the commercial stocks. The level of genomic inbreeding, based on runs of homozygosity (FROH), was markedly different among the breeds and ranged from 0.121 (Valdarnese) to 0.607 (Siciliana). I…

Candidate geneSingle-nucleotide polymorphismRuns of HomozygosityBiologyGenomeArticleGene flowBiodiversity Genetic diversity Local breeds Poultry SafeguardSettore AGR/17 - Zootecnica Generale E Miglioramento Geneticolcsh:Zoologylcsh:QL1-991biodiversity; genetic diversity; local breeds; poultry; safeguardbiodiversitybiodiversity; local breeds; genetic diversity; safeguard; poultryGenetic diversitylcsh:Veterinary medicineGeneral Veterinarylocal breedspoultrygenetic diversityEvolutionary biologysafeguardlcsh:SF600-1100Animal Science and ZoologyInbreedingSNP array
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Functional genomics indicate that schizophrenia may be an adult vascular-ischemic disorder

2015

AbstractIn search for the elusive schizophrenia pathway, candidate genes for the disorder from a discovery sample were localized within the energy-delivering and ischemia protection pathway. To test the adult vascular-ischemic (AVIH) and the competing neurodevelopmental hypothesis (NDH), functional genomic analyses of practically all available schizophrenia-associated genes from candidate gene, genome-wide association and postmortem expression studies were performed. Our results indicate a significant overrepresentation of genes involved in vascular function (P<0.001), vasoregulation (that is, perivascular (P<0.001) and shear stress (P<0.01), cerebral ischemia (P<0.001), neurode…

Candidate genemedicine.medical_specialtyPostmortem studiesLong-Term PotentiationBiologySynaptic TransmissionBrain IschemiaBrain ischemiaCellular and Molecular NeuroscienceInternal medicinemedicineHumansGenetic Predisposition to Diseaseddc:610Biological PsychiatryNeuronal PlasticityNeurogenesisGlutamate receptorLong-term potentiationGenomicsmedicine.diseasePsychiatry and Mental healthEndocrinologySchizophreniaSynaptic plasticitySchizophreniaOriginal ArticleNeuroscienceGenome-Wide Association Study
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Association study of 44 candidate genes with depressive and anxiety symptoms in post-partum women.

2009

The post-partum period is a time of extreme vulnerability for a whole spectrum of psychiatric disorders. Delivery may be considered an important risk factor in genetically susceptible women. Five hundred and eight SNPs in 44 genes at candidate pathways putatively related to mood changes after delivery were genotyped in a multicenter cohort of 1804 women from Spain. Participants completed two scales at 2-3 days, 8 weeks, and 32 weeks post-partum, the Edinburgh Post-partum Depression Scale (EPDS) and the Spielberger State-Trait Anxiety Inventory (STAI). Those women who scored 9 or more on EPDS were evaluated for major depression using the Diagnostic Interview for Genetics Studies (DIGS) adapt…

Candidate genemedicine.medical_specialtyTime FactorsGenotypeAnxietyPolymorphism Single NucleotideWhite PeopleCohort StudiesDepression PostpartumInternal medicinePost-hoc analysisProtein Kinase C betamedicineHumansPsychiatryBiological PsychiatrySerotonin transporterDepression (differential diagnoses)Protein Kinase CRetrospective StudiesPsychiatric Status Rating ScalesSerotonin Plasma Membrane Transport ProteinsbiologyPostpartum PeriodRepeated measures designPsychiatry and Mental healthMoodSpainCohortbiology.proteinDopa DecarboxylaseAnxietyFemalemedicine.symptomPsychologyGenome-Wide Association StudyJournal of psychiatric research
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Small but Powerful, the Primary Endosymbiont of Moss Bugs, Candidatus Evansia muelleri, Holds a Reduced Genome with Large Biosynthetic Capabilities

2014

International audience; Moss bugs (Coleorrhyncha: Peloridiidae) are members of the order Hemiptera, and like many hemipterans, they have symbiotic associations with intracellular bacteria to fulfill nutritional requirements resulting from their unbalanced diet. The primary endosymbiont of the moss bugs, Candidatus Evansia muelleri, is phylogenetically related to Candidatus Carsonella ruddii and Candidatus Portiera aleyrodidarum, primary endosymbionts of psyllids and whiteflies, respectively. In this work, we report the genome of Candidatus Evansia muelleri Xc1 from Xenophyes cascus, which is the only obligate endosymbiont present in the association. This endosymbiont possesses an extremely …

Candidatus Carsonella ruddiimutualism[SDV]Life Sciences [q-bio]GenomeEvolution MolecularHemiptera03 medical and health sciencesMicroscopy Electron TransmissionBotanyGeneticsAnimalsColeorrhynchaPeloridiidaeSymbiosisgenome reductionGenome sizePhylogenyEcology Evolution Behavior and Systematics030304 developmental biologyGene RearrangementGenetics0303 health sciencesbiology030306 microbiologyfungiGene rearrangementbiochemical phenomena metabolism and nutritionbiology.organism_classificationHemipterametabolic complementationHalomonadaceaeCandidatusbacteriaendosymbiontResearch Article
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Whole-Genome Re-Sequencing Data to Infer Historical Demography and Speciation Processes in Land Snails: the Study of Two Candidula Sister Species

2021

Despite the global biodiversity of terrestrial gastropods and their ecological and economic importance, the genomic basis of ecological adaptation and speciation in land snail taxa is still largely unknown. Here, we combined whole-genome re-sequencing with population genomics to evaluate the historical demography and the speciation process of two closely related species of land snails from western Europe, Candidula unifasciata and C. rugosiuscula. Historical demographic analysis indicated fluctuations in the size of ancestral populations, probably driven by Pleistocene climatic fluctuations. Although the current population distributions of both species do not overlap, our approximate Bayesi…

Candidula unifasciatabiologywhole-genome re-sequencingDemographic historyGastropodaCandidulaReproductive isolationbiology.organism_classificationdemographic historyGeneral Biochemistry Genetics and Molecular BiologyEcological speciationGene flowPopulation genomicsapproximate Bayesian computationEvolutionary biologyGenetic algorithmecological speciationGeneral Agricultural and Biological Sciencesgene flow
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Phylostratic Shift of Whole-Genome Duplications in Normal Mammalian Tissues towards Unicellularity Is Driven by Developmental Bivalent Genes and Reve…

2020

Tumours were recently revealed to undergo a phylostratic and phenotypic shift to unicellularity. As well, aggressive tumours are characterized by an increased proportion of polyploid cells. In order to investigate a possible shared causation of these two features, we performed a comparative phylostratigraphic analysis of ploidy-related genes, obtained from transcriptomic data for polyploid and diploid human and mouse tissues using pairwise cross-species transcriptome comparison and principal component analysis. Our results indicate that polyploidy shifts the evolutionary age balance of the expressed genes from the late metazoan phylostrata towards the upregulation of unicellular and early m…

CarcinogenesisCircadian clockAntineoplastic AgentsBiologyGenomeArticleCatalysisBivalent (genetics)Epigenesis Geneticlcsh:ChemistryProto-Oncogene Proteins c-mycInorganic ChemistryTranscriptomeMicePolyploidGene DuplicationNeoplasmsProtein Interaction MappingAnimalsHumanscancerEpigeneticsPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologyGenepolyploidybivalent genesSpectroscopyGeneticsGenomePloidiesCircadian Rhythm Signaling Peptides and ProteinsOrganic Chemistryearly multicellularityviral-origin oncogenesOncogenesGeneral MedicineembryonalityPhenotypeNeoplasm ProteinsunicellularityComputer Science ApplicationsGene Expression Regulation Neoplasticlcsh:Biology (General)lcsh:QD1-999Drug Resistance NeoplasmMetabolic Networks and PathwaysInternational Journal of Molecular Sciences
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Novel cell culture systems for the hepatitis C virus.

2001

Infections with the hepatitis C virus (HCV) are a major cause of acute and chronic liver disease. The high prevalence of the virus, the insidious course of the disease and the poor prognosis for long-term persistent infection make this pathogen a serious medical and socioeconomical problem. The identification of the viral genome approximately 10 years ago rapidly led to the delineation of the genomic organization and the structural and biochemical characterization of several virus proteins. However, studies of the viral life cycle as well as the development of antiviral drugs have been difficult because of the lack of a robust and reliable cell culture system. Numerous attempts have been un…

Carcinoma HepatocellularVirus CultivationvirusesHepacivirusHepatitis C virusGenome ViralHepacivirusmedicine.disease_causeTransfectionVirus ReplicationVirusFlaviviridaeViral life cycleVirologymedicineTumor Cells CulturedAnimalsHumansCells CulturedPharmacologybiologyLiver Neoplasmsbiology.organism_classificationVirologyViral replicationCell cultureDrug DesignImmunologyRepliconViral diseaseAntiviral research
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Replication of subgenomic hepatitis C virus RNAs in a hepatoma cell line.

1999

An estimated 170 million persons worldwide are infected with hepatitis C virus (HCV), a major cause of chronic liver disease. Despite increasing knowledge of genome structure and individual viral proteins, studies on virus replication and pathogenesis have been hampered by the lack of reliable and efficient cell culture systems. A full-length consensus genome was cloned from viral RNA isolated from an infected human liver and used to construct subgenomic selectable replicons. Upon transfection into a human hepatoma cell line, these RNAs were found to replicate to high levels, permitting metabolic radiolabeling of viral RNA and proteins. This work defines the structure of HCV replicons funct…

Carcinoma HepatocellularVirus CultivationvirusesHepatitis C virusDrug ResistanceGenome ViralHepacivirusBiologyViral Nonstructural Proteinsmedicine.disease_causeTransfectionVirus ReplicationViruschemistry.chemical_compoundmedicineTumor Cells CulturedHumansCloning MolecularNS5ANS5BSubgenomic mRNAGeneticsNS3MultidisciplinaryLiver NeoplasmsVirologyHepatitis CNS2-3 proteaseViral replicationchemistryRNA ViralRepliconGentamicinsScience (New York, N.Y.)
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