Search results for "Plot"

showing 10 items of 830 documents

Performance comparison of two whole genome amplification techniques in frame of multifactor preimplantation genetic testing

2018

Purpose To compare multiple displacement amplification and OmniPlex whole genome amplification technique performance during array comparative genome hybridization (aCGH), Sanger sequencing, SNaPshot and fragment size analysis downstream applications in frame of multifactor embryo preimplantation genetic testing. Methods Preclinical workup included linked short tandem repeat (STR) marker selection and primer design for loci of interest. It was followed by a family haplotyping, after which an in vitro fertilization preimplantation genetic testing (IVF-PGT) cycle was carried out. A total of 62 embryos were retrieved from nine couples with a confirmed single gene disorder being transmitted in t…

0301 basic medicineMalePregnancy RateFertilization in VitroBiology03 medical and health sciencessymbols.namesake0302 clinical medicinePregnancymedicineGeneticsSingle Embryo TransferHumansGenetic TestingAlleleGenetics (clinical)Preimplantation DiagnosisGenetic testingGeneticsWhole Genome AmplificationSanger sequencingComparative Genomic Hybridization030219 obstetrics & reproductive medicinePreimplantation genetic testingSingle gene disordermedicine.diagnostic_testTripeptidyl-Peptidase 1HaplotypeMultiple displacement amplificationObstetrics and GynecologyGeneral MedicineAneuploidyHuman geneticsWhole genome amplification030104 developmental biologyBlastocystReproductive MedicineEmbryosymbolsMicrosatelliteFemaleNucleic Acid Amplification TechniquesDevelopmental BiologyJournal of Assisted Reproduction and Genetics
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Mitochondrial genetic haplogroups and depressive symptoms: A large study among people in North America.

2017

Background:\ud A possible relationship between mitochondrial haplogroups and psychiatric diseases (e.g. schizophrenia and bipolar disorder) has been postulated, but data regarding depression is still limited. We investigated whether any mitochondrial haplogroup carried a significant higher risk of depressive symptoms in a large prospective cohort of North American people included in the Osteoarthritis Initiative.\ud \ud Methods:\ud Cross sectional data was derived from the Osteoarthritis Initiative. The haplogroup was assigned through a combination of sequencing and PCR-RFLP techniques. All the mitochondrial haplogroups were named following this nomenclature: H, U, K, J, T, V, SuperHV, I, W…

0301 basic medicineMalemitochondrial haplogroupsCross-sectional studyHaplogroup H*Osteoarthritis initiativePopulation*Mitochondrial haplogroupsDNA MitochondrialHaplogroupArticleWhite People03 medical and health sciences0302 clinical medicineMedicineHumansGenetic Predisposition to DiseaseBipolar disorderProspective Studieseducationeducation.field_of_studybusiness.industryDepressionHaplotypeOsteoarthritis initiativeMiddle Agedmedicine.disease*Depressionhumanities3. Good healthDepression; Mitochondrial haplogroups; Osteoarthritis initiative; Clinical Psychology; Psychiatry and Mental HealthClinical PsychologyMitochondrial haplogroups Depression Osteoarthritis initiative030104 developmental biologyMoodCross-Sectional StudiesHaplotypesPsychiatry and Mental HealthNorth AmericadepressionMitochondrial haplogroupsFemalebusinessosteoarthritis initiative030217 neurology & neurosurgeryHuman mitochondrial DNA haplogroupDemographyClinical psychology
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First phenotypic and genotypic description of Fasciola hepatica infecting highland cattle in the state of Mexico, Mexico

2018

Abstract Fascioliasis is a plantborne and zoonotic parasitic disease caused by fasciolid liver flukes. Fasciola hepatica is the only fasciolid species described in the Americas. Human fascioliasis endemic areas are mainly located in high altitude areas of the Americas. Given the necessity to characterize F. hepatica populations involved, the phenotypic and genotypic features of fasciolid adults infecting cattle in the highland area of Toluca, State of Mexico, Mexico, were analyzed and compared to fasciolid materials from the Northern Bolivian Altiplano, representing the altiplanic transmission pattern in a hyperendemic scenario. A computer image analysis system (CIAS) was applied on the bas…

0301 basic medicineMicrobiology (medical)FascioliasisGenotypeRange (biology)030231 tropical medicinebiology.animal_breedPopulationCattle DiseasesZoologyDNA RibosomalMicrobiology03 medical and health sciences0302 clinical medicineIntergenic regionHepaticaparasitic diseasesGeneticsAnimalsFasciola hepaticaGeography MedicaleducationMexicoMolecular BiologyRibosomal DNAEcology Evolution Behavior and SystematicsBase Compositioneducation.field_of_studybiologyHighland CattleFasciola hepatica030108 mycology & parasitologyLiver flukebiology.organism_classificationPhenotypeInfectious DiseasesHaplotypesCattleSequence AnalysisInfection, Genetics and Evolution
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Mitochondrial introgression suggests extensive ancestral hybridization events among Saccharomyces species.

2017

Horizontal gene transfer (HGT) in eukaryotic plastids and mitochondrial genomes is common, and plays an important role in organism evolution. In yeasts, recent mitochondrial HGT has been suggested between S. cerevisiae and S. paradoxus. However, few strains have been explored given the lack of accurate mitochondrial genome annotations. Mitochondrial genome sequences are important to understand how frequent these introgressions occur, and their role in cytonuclear incompatibilities and fitness. Indeed, most of the Bateson-Dobzhansky-Muller genetic incompatibilities described in yeasts are driven by cytonuclear incompatibilities. We herein explored the mitochondrial inheritance of several wor…

0301 basic medicineMitochondrial DNAParadoxusGenomeSaccharomycesHoming endonucleaseElectron Transport Complex IV03 medical and health sciencesOpen Reading FramesSaccharomycesSpecies SpecificityGeneticsMolecular BiologyGeneEcology Evolution Behavior and SystematicsPhylogenybiologyBase SequenceGeographybiology.organism_classificationReticulate evolutionMitochondria030104 developmental biologyHaplotypesEvolutionary biologyHorizontal gene transferGenome Mitochondrialbiology.proteinHybridization GeneticSaccharomyces reticulate evolution mitochondrial introgression selfish elements recombination interspecies hybridizationSequence AlignmentMolecular phylogenetics and evolution
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The substitution rate of HIV-1 subtypes: a genomic approach

2017

Abstract HIV-1M causes most infections in the AIDS pandemic. Its genetic diversity is defined by nine pure subtypes and more than sixty recombinant forms. We have performed a comparative analysis of the evolutionary rate of five pure subtypes (A1, B, C, D, and G) and two circulating recombinant forms (CRF01_AE and CRF02 AG) using data obtained from nearly complete genome coding sequences. Times to the most recent common ancestor (tMRCA) and substitution rates of these HIV genomes, and their genomic partitions, were estimated by Bayesian coalescent analyses. Genomic substitution rate estimates were compared between the HIV-1 datasets analyzed by means of randomization tests. Significant diff…

0301 basic medicineMost recent common ancestor030106 microbiologyBiologyrelaxed molecular clockMicrobiologyGenomeCoalescent theory03 medical and health sciencesBayesian skyline plotVirologyMolecular clockEvolutionary dynamicsGeneGeneticsGenetic diversityBEASTvirus diseasessubstitution rateVirusGenòmica030104 developmental biologyHIV-1Rate of evolutiontMRCAResearch ArticleVirus Evolution
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Female-specific association among I, J and K mitochondrial genetic haplogroups and cancer:A longitudinal cohort study

2018

Recent studies highlighted the role of mitochondrial dysregulation in cancer, suggesting that the different mitochondrial haplogroups might play a role in tumorigenesis and risk of cancer development. Our aim is to investigate whether any mitochondrial haplogroups carried a significant higher risk of cancer development in a large prospective cohort of North American people. The haplogroup assignment was performed by a combination of sequencing and PCR-RFLP techniques. Our specific outcome of interest was the incidence of any cancer during follow-up period. Overall, 3222 participants were included in the analysis. Women having I, J, K haplogroup reported a significant higher incidence of can…

0301 basic medicineOncologyCancer Researchmedicine.medical_specialtygenetic structuresBiologymedicine.disease_causeDNA MitochondrialHaplogroupHaplogroupArticleCohort Studies03 medical and health sciences0302 clinical medicineInternal medicineNeoplasmsGeneticsmedicineHumansGenetic Predisposition to DiseaseLongitudinal StudiesLongitudinal cohortProspective cohort studyMolecular BiologyOncogenesisCancerCancer Screening Oncogenesis Mitochondrial HaplogroupIncidence (epidemiology)Cancermedicine.diseaseeye diseaseshumanitiesMitochondrial030104 developmental biologyHaplotypes030220 oncology & carcinogenesisScreeningCancer; Haplogroup; Mitochondrial; Oncogenesis; ScreeningFemaleCancer developmentCarcinogenesis
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Systematic review and meta-analysis on targeted therapy in advanced pancreatic cancer

2015

Abstract Aim A systematic review and meta-analysis from literature has been performed to assess the impact of targeted therapy in advanced pancreatic cancer. Methods By searching different literature databases and major cancer meetings proceedings, data from all randomized clinical trials designed to investigate molecular targeted agents in the treatment of advanced pancreatic cancer were collected. The time-frame between January 2007 and March 2015 was selected. Data on predefined end-points, including overall survival, progression-free survival in terms of Hazard Ratio and response-rate were extracted and analyzed by a random effects model. Pooled data analysis was performed according to …

0301 basic medicineOncologymedicine.medical_specialtyFunnel plotEndocrinology Diabetes and Metabolismmedicine.medical_treatmentAntineoplastic AgentsBioinformaticslaw.inventionTargeted therapy03 medical and health sciences0302 clinical medicineRandomized controlled triallawInternal medicineAntineoplastic Combined Chemotherapy ProtocolsHumansMedicineGenetic Predisposition to DiseaseMeta-analysiAdvanced pancreatic cancerHepatologybusiness.industryHazard ratioGastroenterologyCancerPancreatic cancerPublication biasmedicine.diseasePancreatic NeoplasmsClinical trial030104 developmental biology030220 oncology & carcinogenesisMeta-analysisRandomized clinical trialbusinessSignal TransductionPathwayPancreatology
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A Comprehensive Spectroscopic Analysis of the Ibuprofen Binding with Human Serum Albumin, Part I

2020

Human serum albumin (HSA) plays a fundamental role in the human body. It takes part in the transport of exogenic and endogenic substances, especially drugs. Ibuprofen (IBU) is one of the most commonly used non-steroidal anti-inflammatory drugs, used for pain relief, fever relief, and for anti-inflammatory purposes. The binding of ligands with HSA is a significant factor which determines the toxicity and the therapeutic dosages of these substances. The aim of this study was to compare the degree of ibuprofen binding with human serum albumin at various temperatures and protein solution pH values. In order to evaluate conformational changes in HSA caused by interaction with ibuprofen, spectrop…

0301 basic medicinePain reliefPharmaceutical Sciencelcsh:Medicinelcsh:RS1-441030226 pharmacology & pharmacyArticlelcsh:Pharmacy and materia medica03 medical and health sciences0302 clinical medicinespectrofluorometric analysesDrug DiscoverymedicinespectrophotometricSpectroscopyibuprofenScatchard plotChromatographyChemistrylcsh:RHuman serum albuminIbuprofenFluorescenceibuprofen; human serum albumin; spectrophotometric; spectrofluorometric analysesProtein solutionbody regions030104 developmental biologyhuman serum albuminembryonic structuresMolecular Medicinemedicine.drugPharmaceuticals
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Genetic Testing for Melanoma—Where Are We With Moderate-Penetrance Genes?

2016

International audience

0301 basic medicinePreimplantation genetic haplotypingSkin Neoplasmscdkn2aPenetranceDermatologypolicy statement update03 medical and health sciencesCDKN2ApredisposesmedicineHumansGenetic Predisposition to DiseaseGenetic Testingmitf germline mutationGeneMelanomaComputingMilieux_MISCELLANEOUSGenetic testingriskGeneticsmedicine.diagnostic_testbusiness.industryMelanomamedicine.diseaseMicrophthalmia-associated transcription factorcancer susceptibilityPenetrance030104 developmental biologyMutation (genetic algorithm)Mutationbusiness[ SDV.MHEP.DERM ] Life Sciences [q-bio]/Human health and pathology/Dermatologyamerican-society[SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology
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Multilocus microsatellite analysis of European and African Candida glabrata isolates

2016

This study aimed to elucidate the genetic relatedness and epidemiology of 127 clinical and environmental Candida glabrata isolates from Europe and Africa using multilocus microsatellite analysis. Each isolate was first identified using phenotypic and molecular methods and subsequently, six unlinked microsatellite loci were analyzed using automated fluorescent genotyping. Genetic relationships were estimated using the minimum-spanning tree (MStree) method. Microsatellite analyses revealed the existence of 47 different genotypes. The fungal population showed an irregular distribution owing to the over-representation of genetically different infectious haplotypes. The most common genotype was …

0301 basic medicineSettore MED/07 - Microbiologia E Microbiologia ClinicaClonal complexEpidemiologyMultilocus microsatellite analysisCandida glabrataMolecular phylogenyGene locusCentral typeRelated genotypeGenotypeEnvironmental MicrobiologyHaplotypeDNA FungalPriority journalGeneticsAlleleCandidiasisGeneral MedicineClassificationEuropePhenotypeInfectious DiseasesCandida Glabrata; Adhesins; FluconazoleCandidiasiMicrosatelliteMicrosatellite RepeatMicrobiological examinationHumanMicrobiology (medical)GenotypeSettore MED/17 - Malattie InfettiveMicrosatellite DNA030106 microbiologyBiologyEuropeanMicrobiologyArticle03 medical and health sciencesGenetic variationMicrosatellite repeatsGeneticsHumansAlleleGenotypingAllelesScience & TechnologyCandida glabrataMicrosatellite markerHaplotypeAfricanGenetic Variationbiology.organism_classificationNonhuman030104 developmental biologyFungal DNAHaplotypesIsolation and purificationGenetic LociAfricaMultilocus sequence typingFungus isolationGenetic variabilityMicrosatellite genotypeMultilocus Sequence Typing
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