Search results for "Continent"

showing 10 items of 598 documents

Meta-analysis of genome-wide association studies discovers multiple loci for chronic lymphocytic leukemia

2016

Chronic lymphocytic leukemia (CLL) is a common lymphoid malignancy with strong heritability. To further understand the genetic susceptibility for CLL and identify common loci associated with risk, we conducted a meta-analysis of four genome-wide association studies (GWAS) composed of 3,100 cases and 7,667 controls with follow-up replication in 1,958 cases and 5,530 controls. Here we report three new loci at 3p24.1 (rs9880772, EOMES, P=2.55 × 10−11), 6p25.2 (rs73718779, SERPINB6, P=1.97 × 10−8) and 3q28 (rs9815073, LPP, P=3.62 × 10−8), as well as a new independent SNP at the known 2q13 locus (rs9308731, BCL2L11, P=1.00 × 10−11) in the combined analysis. We find suggestive evidence (P<5 × 10−…

0301 basic medicineMedicin och hälsovetenskapChronic lymphocytic leukemiaGeneral Physics and AstronomyGenome-wide association studyVARIANTSMedical and Health SciencesMalalties hereditàries[ SDV.MHEP.HEM ] Life Sciences [q-bio]/Human health and pathology/HematologyChronicGeneticsRISKLeukemiaMultidisciplinaryBANK1VDP::Medisinske Fag: 700::Helsefag: 800::Samfunnsmedisin sosialmedisin: 801Bcl-2-Like Protein 11QAdaptor Proteins[SDV.MHEP.HEM]Life Sciences [q-bio]/Human health and pathology/HematologySingle NucleotideLymphocytic3. Good healthPRIORITIZATIONMultidisciplinary SciencesLeukemiamedicine.anatomical_structureScience & Technology - Other TopicsTRANSCRIPTION FACTOR EOMESODERMINGenetic disordersEXPRESSIONSUSCEPTIBILITY LOCIScienceEuropean Continental Ancestry GroupFAS GENE-MUTATIONSLocus (genetics)BiologyPolymorphism Single NucleotideGeneral Biochemistry Genetics and Molecular BiologyCLASSIFICATIONWhite PeopleArticle03 medical and health sciencesProto-Oncogene ProteinsMD MultidisciplinarymedicineGenetic predispositionSNPHumansLeucèmia limfocítica crònicaGenetic Predisposition to DiseasePolymorphismB cellSerpinsGenetic associationAdaptor Proteins Signal TransducingScience & TechnologySignal TransducingB-CellMembrane ProteinsGeneral Chemistrymedicine.diseaseLeukemia Lymphocytic Chronic B-Cell030104 developmental biologyChronic lymphocytic leukemiaVDP::Medical disciplines: 700::Health sciences: 800::Community medicine Social medicine: 801Apoptosis Regulatory ProteinsT-Box Domain ProteinsFOLLICULAR LYMPHOMAGenome-Wide Association Study
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Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization

2020

Simple Summary Hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome is a very rare hereditary disorder characterized by cutaneous leiomyomas (CLMs), uterine leiomyomas (ULMs), renal cysts (RCys) and renal cell cancer (RCC), with no data on its prevalence worldwide. No genotype-phenotype associations have been described. The aim of our study was to describe the genotypic and phenotypic features of the largest series of patients with HLRCC from Spain reported to date. Of 27 FH germline pathogenic variants, 12 were not previously reported in databases. Patients with missense pathogenic variants showed higher frequencies of CLMs, ULMs and RCys, than those with loss-of-function varia…

0301 basic medicineOncologyCancer ResearchCancer cellsmedicine.disease_causeurologic and male genital diseases:Male Urogenital Diseases::Urogenital Neoplasms::Urologic Neoplasms::Kidney Neoplasms::Male Urogenital Diseases::Carcinoma Renal Cell [DISEASES]<i>FH</i> gene0302 clinical medicineMalalties hereditàriesMissense mutationFH geneFH gene hereditary leiomyomatosis leiomyomas missense pathogenic variants renal cell cancerRenal cell cancerMutationKidney diseasesHereditary leiomyomatosis:Otros calificadores::Otros calificadores::/genética [Otros calificadores]:enfermedades urogenitales masculinas::neoplasias urogenitales::neoplasias urológicas::neoplasias renales::enfermedades urogenitales masculinas::carcinoma de células renales [ENFERMEDADES]leiomyomasmissense pathogenic variants renal cell cancerlcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogensRare diseases:Geographic Locations::Europe::Spain [GEOGRAPHICALS]Oncology030220 oncology & carcinogenesisCohortCèl·lules cancerosesMalalties raresRenal Cell CancersGenetic disordersmedicine.medical_specialtyMissense pathogenic variantsBiología Celularlcsh:RC254-282Article03 medical and health sciencesLeiomyomasInternal medicine:Other subheadings::Other subheadings::/genetics [Other subheadings]medicineRonyons - Malalties - Espanya:localizaciones geográficas::Europa (continente)::España [DENOMINACIONES GEOGRÁFICAS]business.industry:neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido muscular::leiomioma::leiomiomatosis [ENFERMEDADES]Retrospective cohort studymedicine.diseaseGenética030104 developmental biologyFumaraseClinical diagnosisHereditary leiomyomatosis and renal cell cancer syndromeMalalties del ronyó:Neoplasms::Neoplasms by Histologic Type::Neoplasms Connective and Soft Tissue::Neoplasms Muscle Tissue::Leiomyoma::Leiomyomatosis [DISEASES]hereditary leiomyomatosisbusiness
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Drivers of parasite community structure in fishes of the continental shelf of the Western Mediterranean: the importance of host phylogeny and autecol…

2019

15 pages, 5 figures, 6 tables, supplementary data https://doi.org/10.1016/j.ijpara.2019.04.004

0301 basic medicineParasite communitiesNematodaParasitic Diseases AnimalFauna030231 tropical medicineBiologyMediterraneanGeneralist and specialist speciesAcanthocephalaHost-Parasite InteractionsCopepodaFish Diseases03 medical and health sciences0302 clinical medicineAbundance (ecology)Mediterranean SeaPrevalenceAnimalsEcosystemPhylogenyTrophic levelAnalysis of VarianceHost (biology)EcologyFishesCommunity structureBiodiversityHost phylogenyDietAutecological traits030104 developmental biologyInfectious DiseasesFishHabitatSpainParasitologySeasonsTrematodaSpecies richnessContinental shelfIsopoda
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Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive err…

2020

Corneal curvature, a highly heritable trait, is a key clinical endophenotype for myopia - a major cause of visual impairment and blindness in the world. Here we present a trans-ethnic meta-analysis of corneal curvature GWAS in 44,042 individuals of Caucasian and Asian with replication in 88,218 UK Biobank data. We identified 47 loci (of which 26 are novel), with population-specific signals as well as shared signals across ethnicities. Some identified variants showed precise scaling in corneal curvature and eye elongation (i.e. axial length) to maintain eyes in emmetropia (i.e. HDAC11/FBLN2 rs2630445, RBP3 rs11204213); others exhibited association with myopia with little pleiotropic effects …

0301 basic medicinegenetic structuresMedicine (miscellaneous)EmmetropiaGenome-wide association studyVARIANTSGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Cornea0302 clinical medicineRisk FactorsCorneaDatabases GeneticMULTIPLEMyopiaGene Regulatory NetworksEXPRESSION PATTERNS10. No inequalitylcsh:QH301-705.5POPULATIONGeneticseducation.field_of_studymedicine.diagnostic_testHERITABILITYCorneal DiseasesAsian Continental Ancestry Group ; Axial Length Eye ; Cornea ; Corneal Topography ; Databases Genetic ; European Continental Ancestry Group ; Gene Regulatory Networks ; Genetic Loci ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Myopia ; Phenotype ; Polymorphism Single Nucleotide ; Refractometry ; Risk Assessment ; Risk FactorsCorneal topographyEYE SIZE3. Good healthAxial Length EyePhenotypemedicine.anatomical_structureGeneral Agricultural and Biological SciencesExtracellular matrix organizationKeratoconusCorneal diseasesPopulationBiologyPolymorphism Single NucleotideRisk AssessmentArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyOCULAR COMPONENT DIMENSIONS03 medical and health sciencesSPHERICAL EQUIVALENTAsian PeoplemedicineHumansGenetic Predisposition to DiseaseKERATOCONUS3125 Otorhinolaryngology ophthalmologyeducationCorneal Topographymedicine.diseaseCOLLAGENeye diseasesRefractometry030104 developmental biologylcsh:Biology (General)Genetic LociRE3111 Biomedicinesense organs030217 neurology & neurosurgeryGenome-Wide Association StudyCommunications Biology
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Whyvery goodin India might bepretty goodin North America

2019

AbstractSituated at the interface of several sub-disciplines (corpus linguistics, World Englishes, variationist sociolinguistics), this study investigates patterns of adjectival amplification (very good,so glad,pretty cool) in the Corpus of Global Web-Based English (GloWbE). It highlights regional distributions/preferences of amplifier-adjective 2-grams and the idiosyncratic status of certain bigrams according to their frequency status. Globally, clear regional preferences in amplification patterns as well as possible trends concerning change are identified. Regionally, L1 varieties contrast starkly with some regions (Africa, Indian subcontinent) but – maybe unexpectedly – not with others (…

050101 languages & linguisticsLinguistics and LanguageWorld Englishes05 social sciencesLanguage and LinguisticsSoutheast asiaIndian subcontinent030507 speech-language pathology & audiology03 medical and health sciencesGeographyCorpus linguisticsSituated0501 psychology and cognitive sciencesEconomic geography0305 other medical scienceAdjectiveSociolinguisticsInternational Journal of Corpus Linguistics
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Elusive active faults in a low strain rate region (Sicily, Italy): Hints from a multidisciplinary land-to-sea approach

2022

Low Strain Rate regions (LSRrs), i.e., areas undergoing tectonic deformation at rates of 1 mm/yr or less, often host important cities and highly vulnerable anthropogenic assets, and due to their subdued topography and relatively infrequent seismicity, are often considered low seismic hazard areas. Despite this, infrequent but high-magnitude earthquakes in such regions suggest that identifying active structures in the LSRr is one of the primary challenges for both the scientific community and modern societies. In such regions, one of the main issues in identifying active faults is the lack of valuable outcrop data due to erosional/sedimentation rates overwhelming the fault deformation, causi…

3D Fault modelMorphotectonic evolution modelGeophysicsLand-to-sea approachSettore GEO/02 - Geologia Stratigrafica E SedimentologicaSettore GEO/03 - Geologia StrutturaleLow strain rate regionActive deformationNorthern Sicilian continental margin (southern Italy)Settore ICAR/06 - Topografia E CartografiaEarth-Surface Processes
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Thermomineral waters of Greece: geochemical characterization

2020

75 °C). In terms of pH most results vary from 5.5 to 823 °C) ii) warm (23 40 °C) iii) thermal (40 75 °C) and iv) hyperthermal (&gtfew springs show either very low pH (&lt10) proposing serpentinization processes. Regarding TDS concentrations collected waters can be subdivided into low salinity (up to 1.5 g/L) brackish (up to 20 g/L) and saline (up to 43 g/L). The medium high salinities can be justified by mixing with sea water and/or strong waterrock interaction processes. Isotope composition of O and H ranges from 12.7 to +2.7 ‰ SMOW and from 91 to +12 ‰ SMOW respectively and is generally comprised between the Global Meteoric Water Line and the East Mediterranean Meteoric Water Line. Only few water samples show a positive shift for δ18O possibly related to high temperature waterrock interaction processes. Carbon dioxide (18 997000 μmol/mol) or N2 (1100 989000 μmol/mol) or CH4 (&ltMany geothermal areas of Greece are located in regions affected by Miocene or Quaternary volcanism and in continental basins characterised by elevated heat flow. Moreover the majority of them is found along the coast as well as in islands of the Aegean Sea and thus thermal water is often brackish to saline due to marine intrusion into costal aquifer. In the present study almost 300 thermal and cold mineral water samples were collected along the Hellenic territory with their physicochemical parameters (temperature pH electrical conductivity and Eh) and the amount of bicarbonates (titration with 0.1N HCl) being determined in situ. Additionally gases found either in free or dissolved phase were sampled. Both water and gas samples were analysed at the INGVPa laboratories for major ions (Ion Chromatography) silica (Inductively Coupled Plasma Optical Emission Spectrometry) chemical composition of free and dissolved gases (Gas Chromatography) water isotopes (O and H) and carbon and helium isotopes of free and dissolved gases (Mass Spectrometry). The temperature of the investigated waters ranges from 6.5 to 98°C pH from 1.96 to 11.98 whilst Total Dissolved Solids (TDS) from 0.06 to 43 g/L. Based on the temperature parameter waters can be divided into four groups: i) cold (&lt0.5 913000 μmol/mol) are the prevailing gas species found in the studied sites. The δ13CCO2 values ranged from 20.1 to +8.5 ‰ whilst the isotope ratio of He from 0.21 to 6.71 R/RA.4) suggesting interaction with H2Srich gases or very high pH values (&gtSettore GEO/08 - Geochimica E Vulcanologia
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Up-to-date Spanish continental Neogene synthesis and paleoclimatic interpretation

1993

A synthesis of the Spanish continental Neogene is presented by designing an integrated correlative chart of the Neo" gen-e "succes"Siuns-ofthe "lberian-PeninsuIa-. -Ninemain-sedimentary-breaks-have-been -distinguished-in-most-of-the "basins. They are considered a valuable criteria for correlation as they occur in similar time intervals from basin to basin. The determined sedimentary breaks occur in the Agenian, Ramblian, Middle Aragonian, Late Aragonian, Late Vallesian, Middle Turolian, Late Turolian, Late Ruscinian-Early Villafranchian, and Villafranchian ages. The larger interior basins (Ebro, Tajo, Duero) show a fairly complete Neogene sedimentary record in which the aboye mentioned sedi…

:CIENCIAS DE LA TIERRA Y DEL ESPACIO::Geología::Geología regional [UNESCO]UNESCO::CIENCIAS DE LA TIERRA Y DEL ESPACIO::Geología::Geología regionalPaleoclimasCuencas continentalesEspañaContinental basinsPaleoclimates SpainCorrelación estratigráficaStratigraphic correlation Sedimentary discontinuitiesNeógenoNeógeno; Cuencas continentales; Correlación estratigráfica; Discontinuidades sedimentarias; Paleoclimas; EspañaGeología estratigráficaNeogeneDiscontinuidades sedimentariasNeogene; Continental basins; Stratigraphic correlation Sedimentary discontinuities; Paleoclimates Spain
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Tectonic evolution of the Sicilian Thrust System (central Mediterranean)

2012

The Sicilian Thrust System (STS) is a south-verging (Africa-verging) fold-and-thrust belt including a Mesozoic-Paleogene sedimentary sequence. This thrust stack owes its origin to the deformation of pre-orogenic strata deposited in different palaeogeographic domains belonging to passive margins of the African plate. The STS was deformed during the Neogene, following the closure of the Tethys Ocean and the continental collision between the Sardo-Corso Block and the North Africa margins. The thrust pile was detached from the underlying basement during the Miocene-Pleistocene. The regional-scale structural setting recognized allows us to reconstruct the tectonic evolution of the STS as follows…

Accretionary wedgeContinental collisionSettore GEO/03 - Geologia StrutturaleextensionGeologythrustingAfrica margin depositsNeogeneTethys Oceanlanguage.human_languageaccretionary prismAfrican PlatePaleontologytectonicBasement (geology)Passive marginlanguagetectonicsSicilianSicilyGeologySeismologyAfrica margin deposit
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Tectonic history of the submerged Maghrebian Chain from the Southern Tyrrhenian Sea to the Pelagian Foreland

1995

A description is given here of the structure and tectonic evolution of the submerged NW-SE trending Alpine belt extending from the Sardinia Channel across the Sicily Straits to the Pelagian Sea. This mainly results from re-interpretation of the existing seismic network. In the Sicily Straits the crust comprises an allocthonous belt composed of Tertiary flysch-type thrust slices stacked in an imbricate wedge. The wedge is composed of Mesozoic basin and platform carbonates thrusts derived by deformation of the old Sicilian continental margin. Lower Miocene to Lower Pleistocene foredeep deposits (terrigenous and clastic carbonates) filled progressively onlapping foreland basins during regional…

Accretionary wedgeRiftInversion (geology)Geologylanguage.human_languagePaleontologyTectonicsContinental marginlanguageExtensional tectonicsSicilianGeomorphologyForeland basinGeologyTerra Nova
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