Search results for "iNGL"

showing 10 items of 5652 documents

Characterisation of microsatellite and SNP markers from Miseq and genotyping-by-sequencing data among parapatric Urophora cardui (Tephritidae) popula…

2017

Phylogeographic analyses of the gall flyUrophora carduihave in earlier studies based on allozymes and mtDNA identified small-scale, parapatrically diverged populations within an expanding Western Palearctic population. However, the low polymorphism of these markers prohibited an accurate delimitation of the evolutionary origin of the parapatric divergence.Urophora carduifrom the Western Palearctic have been introduced into Canada as biological control agents of the host plantCirsium arvense. Here, we characterise 12 microsatellite loci with hexa-, penta- and tetra-nucleotide repeat motifs and report a genotyping-by-sequencing SNP protocol. We test the markers for genetic variation among thr…

0301 basic medicinePopulationlcsh:MedicineLocus (genetics)Single-nucleotide polymorphismGBSBiologyParapatric speciationParapatryGeneral Biochemistry Genetics and Molecular BiologyEcoR103 medical and health sciencesGenetic variationGenetic clineAlleleeducationGeneticseducation.field_of_studyUrophora carduiGeneral Neurosciencelcsh:RAlternative sex-linked locusBiodiversityGenomicsGeneral MedicineSSREvolutionary StudiesGenome-wide differentiationPhylogeography030104 developmental biologyEvolutionary biologyMicrosatelliteGeneral Agricultural and Biological SciencesEntomologyPeerJ
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Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

2016

Multiple sclerosis (MS) is a prevalent neurological disease of complex etiology. Here, we describe the characterization of a multi-incident MS family that nominated a rare missense variant (p.G420D) in plasminogen (PLG) as a putative genetic risk factor for MS. Genotyping of PLG p.G420D (rs139071351) in 2160 MS patients, and 886 controls from Canada, identified 10 additional probands, two sporadic patients and one control with the variant. Segregation in families harboring the rs139071351 variant, identified p.G420D in 26 out of 30 family members diagnosed with MS, 14 unaffected parents, and 12 out of 30 family members not diagnosed with disease. Despite considerably reduced penetrance, lin…

0301 basic medicineProbandMaleGene ExpressionQH426-470multiple sclerosis0302 clinical medicineRisk FactorsGenotypeMissense mutationExomegeneticsguidelinesGenetics (clinical)degradationriskGeneticsLinkagedeficiencyMiddle AgedPenetrance3. Good healthPedigreeplasminogenChromosomes Human Pair 6FemalelinkageAdultGenotype610 Medicine & healthInvestigationsBiologysystemPolymorphism Single Nucleotideblood-brain-barrieractivatorMultiple sclerosisAssociation03 medical and health scienceslamininGenetic linkagemedicineGeneticsHumansAmino Acid Sequenceddc:610Molecular BiologyGenotypingAgeddiseaseSequence Homology Amino AcidMultiple sclerosisCase-control studyassociationPlasminogenmedicine.diseasediagnostic-criteria030104 developmental biologyCase-Control StudiesImmunologySequence Alignment030217 neurology & neurosurgery
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Direct Visualization of the Conformational Dynamics of Single Influenza Hemagglutinin Trimers

2018

Influenza hemagglutinin (HA) is the canonical type I viral envelope glycoprotein and provides a template for the membrane-fusion mechanisms of numerous viruses. The current model of HA-mediated membrane fusion describes a static "spring-loaded" fusion domain (HA2) at neutral pH. Acidic pH triggers a singular irreversible conformational rearrangement in HA2 that fuses viral and cellular membranes. Here, using single-molecule Förster resonance energy transfer (smFRET)-imaging, we directly visualized pH-triggered conformational changes of HA trimers on the viral surface. Our analyses reveal reversible exchange between the pre-fusion and two intermediate conformations of HA2. Acidification of p…

0301 basic medicineProtein ConformationHemagglutinin (influenza)Hemagglutinin Glycoproteins Influenza VirusBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyReaction coordinate03 medical and health sciencesViral envelopeInfluenza HumanFluorescence Resonance Energy TransferHumansDynamic equilibriumFusionCell MembraneLipid bilayer fusionHydrogen-Ion ConcentrationVirus InternalizationSingle Molecule ImagingHEK293 CellsHemagglutinins030104 developmental biologyMembraneFörster resonance energy transferA549 CellsInfluenza A virusBiophysicsbiology.proteinProtein BindingCell
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Metabolites related to purine catabolism and risk of type 2 diabetes incidence; modifying effects of the TCF7L2-rs7903146 polymorphism

2019

Studies examining associations between purine metabolites and type 2 diabetes (T2D) are limited. We prospectively examined associations between plasma levels of purine metabolites with T2D risk and the modifying effects of transcription factor-7-like-2 (TCF7L2) rs7903146 polymorphism on these associations. This is a case-cohort design study within the PREDIMED study, with 251 incident T2D cases and a random sample of 694 participants (641 non-cases and 53 overlapping cases) without T2D at baseline (median follow-up: 3.8 years). Metabolites were semi-quantitatively profiled with LC-MS/MS. Cox regression analysis revealed that high plasma allantoin levels, including allantoin-to-uric acid rat…

0301 basic medicinePurineMalePolymorphism (Crystallography)endocrine system diseaseslcsh:MedicineType 2 diabetesDiabetis no-insulinodependentchemistry.chemical_compound0302 clinical medicineBlood plasmaMetabolitesNon-insulin-dependent diabetesProspective Studieslcsh:ScienceMultidisciplinaryDiabetisIncidencePrognosisMetabòlits3. Good healthMetabolomeFemaleTranscription Factor 7-Like 2 Proteinmedicine.drugmedicine.medical_specialtyendocrine systemPolymorphism Single NucleotideArticle03 medical and health sciencesAllantoin:Ciencias de la Salud::Medicina preventiva [Materias Investigacion]Diabetes mellitusInternal medicinemedicineHumansGenetic Predisposition to DiseaseInosineAgedbusiness.industrylcsh:Rnutritional and metabolic diseasesPolimorfisme (Cristal·lografia)Xanthinemedicine.disease030104 developmental biologyEndocrinologychemistryDiabetes Mellitus Type 2PurinesSpainCase-Control Studieslcsh:QbusinessTCF7L2030217 neurology & neurosurgeryBiomarkersFollow-Up Studies
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Endogenous β-neurexins on axons and within synapses show regulated dynamic behavior

2021

Summary: Neurexins are key organizer molecules that regulate synaptic function and are implicated in autism and schizophrenia. β-neurexins interact with numerous cell adhesion and receptor molecules, but their neuronal localization remains elusive. Using single-molecule tracking and high-resolution microscopy to detect neurexin1β and neurexin3β in primary hippocampal neurons from knockin mice, we demonstrate that endogenous β-neurexins are present in fewer than half of excitatory and inhibitory synapses. Moreover, we observe a large extrasynaptic pool of β-neurexins on axons and show that axonal β-neurexins diffuse with higher surface mobility than those transiently confined within synapses…

0301 basic medicineQH301-705.5Green Fluorescent ProteinsNerve Tissue ProteinsEndogenyHippocampal formationNeurotransmissionGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciences0302 clinical medicineProtein DomainsAnimalsPremovement neuronal activityneurotransmissionBiology (General)synaptic functionCell adhesionelectron microscopyintegumentary systemChemistryCell MembranefungiGlutamate receptorcell adhesionproteaseAxonsCell biologyMice Inbred C57BL030104 developmental biologyEctodomainProteolysisSynapsesExcitatory postsynaptic potentialsingle-particle tracking030217 neurology & neurosurgeryCell Reports
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Different Within-Host Viral Evolution Dynamics in Severely Immunosuppressed Cases with Persistent SARS-CoV-2

2021

12 páginas, 2 figuras, 1 tabla.

0301 basic medicineQH301-705.5medicine.medical_treatment030106 microbiologyInmunologíaMedicine (miscellaneous)GenomicsSingle-nucleotide polymorphismDiseaseBiologyArticleGeneral Biochemistry Genetics and Molecular BiologyVirusdiversityPersistence03 medical and health sciencesmedicinegenomicsBiology (General)Evolutionary dynamicsimmunosuppressedDiversitySARS-CoV-2COVID-19ImmunosuppressionGenomicspersistencemedicine.diseaseVirologyviral viabilityLymphoma030104 developmental biologyImmunosuppressedViral evolutionViral viability
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Impact of PNPLA3 and IFNL3 polymorphisms on hepatic steatosis in Asian patients with chronic hepatitis C.

2017

Background and aims A recent meta-analysis revealed that the genotype PNPLA3 rs738409 GG is associated with a higher risk of hepatic steatosis (HS) in Caucasian patients with chronic hepatitis C (CHC). However, controversial results were found regarding Asian populations. Furthermore, previous studies have shown a negative association between interferon lambda 3 (IFNL3) rs12979860 CC and HS in Caucasian CHC patients, but there have been no reports indicating any such association in Asian populations. In this study, then, we investigated the association of PNPLA3 and IFNL3 polymorphisms with HS in Asian CHC patients. Methods We enrolled consecutive CHC patients who underwent liver biopsy pri…

0301 basic medicineRNA virusesMaleSteatosisHeredityPhysiologylcsh:MedicineHepacivirusChronic liver diseasePathology and Laboratory MedicineGastroenterologyBody Mass IndexCytopathologyLiver disease0302 clinical medicineEndocrinologyGenotypeMedicine and Health Scienceslcsh:ScienceMultidisciplinaryAlcohol Consumptionmedicine.diagnostic_testHepatitis C virusFatty liverHepatitis CMedical microbiologyMiddle AgedGenetic MappingPhysiological ParametersLiverLiver biopsyViruses030211 gastroenterology & hepatologyFemalePathogensResearch ArticleAdultmedicine.medical_specialtyEndocrine DisordersVariant GenotypesMicrobiologyPolymorphism Single Nucleotide03 medical and health sciencesAsian PeopleInternal medicinemedicineGeneticsDiabetes MellitusHumansGenetic Predisposition to DiseaseAllelesGenetic Association StudiesNutritionAgedFlavivirusesbusiness.industryInterleukinsBody Weightlcsh:ROrganismsViral pathogensBiology and Life SciencesMembrane ProteinsLipaseHepatitis C Chronicmedicine.diseaseFibrosisHepatitis virusesDietMicrobial pathogensFatty Liver030104 developmental biologyAnatomical PathologyGenetic LociMetabolic Disorderslcsh:QInterferonsSteatosisbusinessBody mass indexDevelopmental BiologyPLoS ONE
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A genome-wide association study of corneal astigmatism: The CREAM Consortium

2018

Contains fulltext : 191261.pdf (Publisher’s version ) (Open Access) Purpose: To identify genes and genetic markers associated with corneal astigmatism. Methods: A meta-analysis of genome-wide association studies (GWASs) of corneal astigmatism undertaken for 14 European ancestry (n=22,250) and 8 Asian ancestry (n=9,120) cohorts was performed by the Consortium for Refractive Error and Myopia. Cases were defined as having >0.75 diopters of corneal astigmatism. Subsequent gene-based and gene-set analyses of the meta-analyzed results of European ancestry cohorts were performed using VEGAS2 and MAGMA software. Additionally, estimates of single nucleotide polymorphism (SNP)-based heritability for …

0301 basic medicineReceptor Platelet-Derived Growth Factor alphaAcid PhosphataseGene Expression610 Medicine & healthbiomarkkeritPolymorphism Single NucleotideWhite PeopleSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]Corneal DiseasesCohort StudiesCornea03 medical and health sciences0302 clinical medicineAsian PeopleOdds RatioHumansGenetic Predisposition to Disease610 Medicine & healthsarveiskalvogeenitIntracellular Signaling Peptides and ProteinsAstigmatism030104 developmental biologysilmätauditClaudinsgenetic markers030221 ophthalmology & optometrycorneal astigmatismSoftwaresilmätResearch ArticleGenome-Wide Association Study
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Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

2016

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG…

0301 basic medicineRefractive errorgenetic structuresGeneral Physics and AstronomyGenome-wide association studyVARIANTSrefractive error ; geneEYEBioinformaticsINCIDENT MYOPIAGenome-wide association studiesSensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]0302 clinical medicinePolymorphism (computer science)10. No inequalityPOPULATIONeducation.field_of_studyMultidisciplinaryQACTIVATED PROTEIN-KINASEta3142single-nucleotide polymorphismRETINAL-PIGMENT EPITHELIUMOUTDOOR ACTIVITY3142 Public health care science environmental and occupational health3. Good healthRefractive errorsMeta-analysislociEducational StatusSciencePopulation610 Medicine & healthEnvironmentBiologyta3111Polymorphism Single NucleotideArticleWhite PeopleGeneral Biochemistry Genetics and Molecular BiologyEducation03 medical and health sciencesAsian PeopleSDG 3 - Good Health and Well-beingGenetic variationmedicineHumansSNPGenetic Predisposition to Diseasemyopia3125 Otorhinolaryngology ophthalmologyGenetic variationeducationRECEPTORGene Expression Profilingta1184General ChemistryHeritabilitymedicine.diseaseeye diseasesta3125TIME OUTDOORS030104 developmental biologyGenetic LociEvolutionary biologyRISK-FACTORS030221 ophthalmology & optometryREsense organs3111 BiomedicineGenome-Wide Association StudyNature Communications
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Genetically predicted longer telomere length is associated with increased risk of B-cell lymphoma subtypes

2016

International audience; Evidence from a small number of studies suggests that longer telomere length measured in peripheral leukocytes is associated with an increased risk of non-Hodgkin lymphoma (NHL). However, these studies may be biased by reverse causation, confounded by unmeasured environmental exposures and might miss time points for which prospective telomere measurement would best reveal a relationship between telomere length and NHL risk. We performed an analysis of genetically inferred telomere length and NHL risk in a study of 10 102 NHL cases of the four most common B-cell histologic types and 9562 controls using a genetic risk score (GRS) comprising nine telomere length-associa…

0301 basic medicineSerumMaleLymphomaanalysisChronic lymphocytic leukemiaFollicular lymphomaGlobal Health[ SDV.CAN ] Life Sciences [q-bio]/Cancerimmunologysurgery0302 clinical medicineEndocrinologyimmune system diseasessingle nucleotide polymorphismGermanyhemic and lymphatic diseasesLondon80 and overOdds RatiogeneticsProspective StudiesB-cell lymphomaAssociation Studies ArticleGenetics (clinical)Aged 80 and overeducation.field_of_studytelomereGenomeLeukemiaAge FactorsGeneral MedicineEnvironmental exposureGenomicsMiddle Agedb-cell lymphomasmall cell lymphomaItaly030220 oncology & carcinogenesisMedicineepidemiologyFemaleFranceRisk of B-cell lymphoma subtypesRiskAdultCanadaChinaLymphoma B-CellGenotypeAdolescentleukocytesetiologyPopulationPopulation[SDV.CAN]Life Sciences [q-bio]/CancerBiologyEnvironmentRisk AssessmentmethodsTime03 medical and health sciencesmedicineHumansFamilyGenetic Predisposition to DiseaseeducationMolecular BiologyAllelesOccupational HealthGenetic Association StudiesAgedB-CellInternational AgenciesOdds ratioEnvironmental Exposuremedicine.diseaseTelomereNon-Hodgkin's lymphoma030104 developmental biologyImmunologyphysiologyChronic DiseasepathologyLaboratoriesmetabolism
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