0000000001251407

AUTHOR

A. Paton

showing 2 related works from this author

X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis

2021

Background & aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). Results: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10-6; odds…

Canadian-US PBC Consortium0301 basic medicineMaleLinkage disequilibriumGenome-wide association studyDiseasePBCSettore MED/03 - GENETICA MEDICALinkage Disequilibrium0302 clinical medicineUK-PBC ConsortiumGenotypeMitochondrial Precursor Protein Import Complex ProteinsItalian PBC Genetics Study GroupOdds RatioX-Wide Association StudyJapan PBC-GWAS ConsortiumX chromosomeGeneticsLiver Cirrhosis BiliaryGastroenterologyForkhead Transcription FactorsDNA-Binding ProteinsShal Potassium Channels030211 gastroenterology & hepatologyFemaleAdultMonosaccharide Transport ProteinsSuperenhancerLocus (genetics)Single-nucleotide polymorphismBiologyProtein Serine-Threonine KinasesPolymorphism Single NucleotideArticleWhite People03 medical and health sciencesAsian PeopleProto-Oncogene ProteinsEndopeptidasesHumansCell LineageGenetic Predisposition to DiseaseMeta-analysiGenetic associationChromosomes Human XGastroenterology & HepatologyHepatology1103 Clinical SciencesMeta-analysis030104 developmental biologyGenetic Loci1114 Paediatrics and Reproductive MedicineMeta-analysis; Superenhancer; X-Wide Association Study1109 NeurosciencesCarrier ProteinsGenome-Wide Association Study
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PESI - a taxonomic backbone for Europe

2015

Reliable taxonomy underpins communication in all of biology, not least nature conservation and sustainable use of ecosystem resources. The flexibility of taxonomic interpretations, however, presents a serious challenge for end-users of taxonomic concepts. Users need standardised and continuously harmonised taxonomic reference systems, as well as highquality and complete taxonomic data sets, but these are generally lacking for nonspecialists. The solution is in dynamic, expertly curated web-based taxonomic tools. The Pan-European Species-directories Infrastructure (PESI) worked to solve this key issue by providing a taxonomic e-infrastructure for Europe. It strengthened the relevant social (…

Fauna EuropaeaEU-nomenZooBankcomputer.software_genreIndex FungorumComputingMethodologies_ARTIFICIALINTELLIGENCEFloristics & DistributionPESI Euro+Med PlantBase Fauna Europaea European Register of Marine Species Index Fungorum International Plant Names Index (IPNI) AlgaeBase ZooBank European taxonomic backbone EU-nomen Taxonomic indexing Authority File Taxonomy Nomenclature Global Names Architecture INSPIRE LifeWatch EUBONArctic OceanEuropean register of marine speciesEuropean taxonomic backbonePlantaeFaunistics & DistributionAtlantic OceanGlobal Names ArchitectureBiodiversity assessmentPESI ; Euro+Med PlantBase ; Fauna Europaea ; European Register of Marine Species ; Index Fungorum ; International Plant Names Index (IPNI) ; AlgaeBase ; ZooBank ; European taxonomic backbone ; EU-nomen ; Taxonomic indexing ; Authority File ; Taxonomy ; Nomenclature ; Global Names Architecture ; INSPIRE ; LifeWatch ; EUBONEcologyNomenclatureSettore BIO/02 - Botanica SistematicaAlgaeBaseGlobal names architectureEuropeNature ConservationGeneral Research ArticleTaxonomy (biology)Data miningNeogeneFauna EuropaeaAlgaeBaseEuropean register of marine specieLifeWatchInformationSystems_INFORMATIONSTORAGEANDRETRIEVALIndex fungorumAuthority FileBiodiversity informaticsBiologyGlobal Names Architecture ; Euro+Med PlantBase ; Taxonomy ; Index Fungorum ; Taxonomic indexing ; AlgaeBase ; International Plant Names Index (IPNI) ; Authority File ; PESI ; European taxonomic backbone ; Fauna Europaea ; EU-nomen ; LifeWatch ; Nomenclature ; EUBON ; INSPIRE ; ZooBank ; European Register of Marine SpeciesAnimaliaInternational Plant Names Index (IPNI)INSPIREEcology Evolution Behavior and SystematicsTaxonomyPESIFungiEUBON15. Life on landData scienceEuropean Register of Marine SpeciesEuro+Med PlantBaseSettore BIO/03 - Botanica Ambientale E ApplicataSustainabilityTaxonomic indexingAuthority fileCatalogues and Checklists[SDE.BE]Environmental Sciences/Biodiversity and EcologycomputerBiodiversity Data Journal
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