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showing 10 items of 16837 documents

Array-based molecular karyotyping in 115 VATER/VACTERL and VATER/VACTERL-like patients identifies disease-causing copy number variations

2017

Background The acronym VATER/VACTERL refers to the rare nonrandom association of the following component features (CF): vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with or without esophageal atresia, renal malformations (R), and limb defects (L). Patients presenting with at least three CFs are diagnosed as having VATER/VACTERL association while patients presenting with only two CFs are diagnosed as having VATER/VACTERL-like phenotypes. Recently, rare causative copy number variations (CNVs) have been identified in patients with VATER/VACTERL association and VATER/VACTERL-like phenotypes. Methods To detect further causative CNVs we perfor…

0301 basic medicineEmbryologymedicine.medical_specialtyPathologyHealth Toxicology and MutagenesisTracheoesophageal fistulaDisease030105 genetics & heredityToxicologydigestive systemGastroenterology03 medical and health sciencesInternal medicinemedicineIn patientCopy-number variationbusiness.industryKaryotypemedicine.diseaseVACTERL associationdigestive system diseases030104 developmental biologyAtresiaPediatrics Perinatology and Child HealthChromosomal regionbusinessDevelopmental BiologyBirth Defects Research
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Hypoxia in CNS Pathologies: Emerging Role of miRNA-Based Neurotherapeutics and Yoga Based Alternative Therapies

2017

Cellular respiration is a vital process for the existence of life. Any condition that results in deprivation of oxygen (also termed as hypoxia) may eventually lead to deleterious effects on the functioning of tissues. Brain being the highest consumer of oxygen is prone to increased risk of hypoxia-induced neurological insults. This in turn has been associated with many diseases of central nervous system (CNS) such as stroke, Alzheimer's, encephalopathy etc. Although several studies have investigated the pathophysiological mechanisms underlying ischemic/hypoxic CNS diseases, the knowledge about protective therapeutic strategies to ameliorate the affected neuronal cells is meager. This has au…

0301 basic medicineEncephalopathyCentral nervous systemIschemiaReviewischemiaBiologyNeuroprotectionlcsh:RC321-571breathing exercise03 medical and health sciencesTherapeutic approach0302 clinical medicinemicroRNAmedicineGene silencinglcsh:Neurosciences. Biological psychiatry. NeuropsychiatrymicroRNAhypoxiaGeneral NeuroscienceHypoxia (medical)medicine.disease030104 developmental biologymedicine.anatomical_structureyoganeuroprotectionmedicine.symptomNeuroscience030217 neurology & neurosurgeryNeuroscienceFrontiers in Neuroscience
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ATR expands embryonic stem cell fate potential in response to replication stress

2020

Fondazione Italiana per la Ricerca sul Cancro FIRC 18112 Sina Atashpaz.Fondazione Umberto Veronesi Sina Atashpaz Associazione Italiana per la Ricerca sul Cancro AIRC 5xmille METAMECH program Vincenzo Costanzo Giovanni Armenise-Harvard Foundation Vincenzo Costanzo European Research Council Consolidator grant 614541 Vincenzo Costanzo Associazione Italiana per la Ricerca sul Cancro Fellowship 23961 Negar ArghavanifarDanish Cancer Society KBVU-2014 Andres Joaquin Lopez-Contreras Danish Council for Independent Research Sapere Aude, DFF Starting Grant 2014 Andres Joaquin Lopez-Contreras European Research Council ERC-2015-STG-679068 Andres Joaquin Lopez-Contreras Danish National Research Foundatio…

0301 basic medicineEndogenyAtaxia Telangiectasia Mutated ProteinsMice0302 clinical medicineTandem Mass SpectrometryTranscription (biology)GENE ATRcell biologyCloning MolecularBiology (General)Cells Cultured0303 health sciencesGeneral NeuroscienceQRTotipotentCell DifferentiationEmbryoGeneral MedicineCell biologyMedicinebiological phenomena cell phenomena and immunityResearch ArticleQH301-705.5replication stressDNA damageScienceSettore MED/08 - Anatomia PatologicaBiologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAnimalsRNA MessengerGeneEmbryonic Stem CellsmouseCell Proliferation030304 developmental biologyMessenger RNAGeneral Immunology and MicrobiologyChimeraSequence Analysis RNAEmbryogenesisTELOMERE ELONGATIONEPIGENETIC RESTRICTIONembryonic stem cellEmbryonic stem cellATR030104 developmental biologyGene Expression RegulationDNA-DAMAGECheckpoint Kinase 1GENOMIC STABILITY030217 neurology & neurosurgeryChromatography LiquidDNA DamageeLife
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Microparticles harbouring Sonic hedgehog morphogen improve the vasculogenesis capacity of endothelial progenitor cells derived from myocardial infarc…

2019

Aims Endothelial progenitor cells (EPC) play a role in endothelium integrity maintenance and regeneration. Decreased numbers of EPC or their impaired function correlates with an increase in cardiovascular events. Thus, EPC are important predictors of cardiovascular mortality and morbidity. Microparticles carrying Sonic hedgehog (Shh) morphogen (MPShh+) trigger pro-angiogenic responses, both in endothelial cells and in ischaemic rodent models. Here, we propose that MPShh+ regulates EPC function, thus enhancing vasculogenesis, and correcting the defects in dysfunctional EPC obtained from acute myocardial infarction (AMI) patients. Methods and results The mechanisms underlying Shh pathway func…

0301 basic medicineEndotheliumNitric Oxide Synthase Type IIIPhysiologyAngiogenesis[SDV]Life Sciences [q-bio]Myocardial InfarctionMice NudeNeovascularization PhysiologicAcute myocardial infarction030204 cardiovascular system & hematologyMicroparticlesZinc Finger Protein GLI103 medical and health sciences0302 clinical medicineVasculogenesisCell-Derived MicroparticlesPhysiology (medical)Paracrine CommunicationVasculogenesismedicineAnimalsHumansHedgehog ProteinsProgenitor cellSonic hedgehogAngiogenic ProteinsCells CulturedComputingMilieux_MISCELLANEOUSEndothelial progenitor cellsbiologybusiness.industryNitric oxideSmoothened ReceptorHedgehog signaling pathwayPatched-1 ReceptorVascular endothelial growth factor A030104 developmental biologymedicine.anatomical_structureCase-Control StudiesKLF2embryonic structuresCancer researchbiology.proteincardiovascular systemCardiology and Cardiovascular MedicinebusinessSignal Transductioncirculatory and respiratory physiology
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Parasites, pathogens, and other symbionts of copepods.

2021

There is a large diversity of eukaryotic symbionts of copepods, dominated by epizootic protists such as ciliates, and metazoan parasites. Eukaryotic endoparasites, copepod-associated bacteria, and viruses are less well known, partly due to technical limitations. However, new molecular techniques, combined with a range of other approaches, provide a complementary toolkit for understanding the complete symbiome of copepods and how the symbiome relates to their ecological roles, relationships with other biota, and responses to environmental change. In this review we provide the most complete overview of the copepod symbiome to date, including microeukaryotes, metazoan parasites, bacteria, and …

0301 basic medicineEnvironmental changeRange (biology)030231 tropical medicineZoologyBiologyCopepoda03 medical and health sciences0302 clinical medicinemedicineAnimalsSymbiosisEpizooticEcosystemMicrobiotafungiDinoflagellateEukaryotaBiotamedicine.diseasebiology.organism_classification030104 developmental biologyInfectious DiseasesMicrosporidiaParasitologyhuman activitiesCopepodBacteriaTrends in parasitology
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2016

Summary Background Timely assessment of the burden of HIV/AIDS is essential for policy setting and programme evaluation. In this report from the Global Burden of Disease Study 2015 (GBD 2015), we provide national estimates of levels and trends of HIV/AIDS incidence, prevalence, coverage of antiretroviral therapy (ART), and mortality for 195 countries and territories from 1980 to 2015. Methods For countries without high-quality vital registration data, we estimated prevalence and incidence with data from antenatal care clinics and population-based seroprevalence surveys, and with assumptions by age and sex on initial CD4 distribution at infection, CD4 progression rates (probability of progre…

0301 basic medicineEpidemiologyImmunologyPopulation03 medical and health sciences0302 clinical medicineAcquired immunodeficiency syndrome (AIDS)VirologymedicineGlobal healthSeroprevalence030212 general & internal medicineYoung adulteducationeducation.field_of_studybusiness.industry1. No povertymedicine.diseaseMental health3. Good health030104 developmental biologyInfectious DiseasesSystematic reviewCohortbusinessDemographyThe Lancet HIV
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Integration of animal health and public health surveillance sources to exhaustively inform the risk of zoonosis: An application to echinococcosis in …

2020

The analysis of zoonotic disease risk requires the consideration of both human and animal geo-referenced disease incidence data. Here we show an application of joint Bayesian analyses to the study of echinococcosis granulosus (EG) in the province of Rio Negro, Argentina. We focus on merging passive and active surveillance data sources of animal and human EG cases using joint Bayesian spatial and spatio-temporal models. While similar spatial clustering and temporal trending was apparent, there appears to be limited lagged dependence between animal and human outcomes. Beyond the data quality issues relating to missingness at different times, we were able to identify relations between dog and …

0301 basic medicineEpidemiologyRC955-962Animal DiseasesBayes' theoremMedical Conditions0302 clinical medicinePublic health surveillanceZoonosesArctic medicine. Tropical medicineEpidemiologyMedicine and Health SciencesPublic Health SurveillanceDog DiseasesChildEchinococcus granulosusMammalsCiencias Médicas y de la SaludDisease surveillanceSurveillancebiologyZoonosisEukaryotaEchinococcosisInfectious DiseasesGeographyHelminth InfectionsVertebratesPublic aspects of medicineRA1-1270Research ArticleNeglected Tropical Diseasesmedicine.medical_specialtyInfectious Disease ControlAdolescent030231 tropical medicineArgentinaDisease SurveillanceModels Biological03 medical and health sciencesDogsEchinococcosisEnvironmental healthControlParasitic DiseasesmedicineAnimalsHumansEchinococcus granulosusOrganismsPublic Health Environmental and Occupational HealthBiology and Life SciencesBayes TheoremTropical Diseasesmedicine.diseasebiology.organism_classification030104 developmental biologyEchinococosisMedical Risk FactorsInfectious Disease SurveillanceData qualityAmniotesZoology
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Single-cell trajectories reconstruction, exploration and mapping of omics data with STREAM

2019

Single-cell transcriptomic assays have enabled the de novo reconstruction of lineage differentiation trajectories, along with the characterization of cellular heterogeneity and state transitions. Several methods have been developed for reconstructing developmental trajectories from single-cell transcriptomic data, but efforts on analyzing single-cell epigenomic data and on trajectory visualization remain limited. Here we present STREAM, an interactive pipeline capable of disentangling and visualizing complex branching trajectories from both single-cell transcriptomic and epigenomic data. We have tested STREAM on several synthetic and real datasets generated with different single-cell techno…

0301 basic medicineEpigenomicsMultifactor Dimensionality ReductionComputer scienceGeneral Physics and Astronomy02 engineering and technologyOmics dataMyoblastsMiceSingle-cell analysisGATA1 Transcription FactorMyeloid CellsLymphocyteslcsh:ScienceData processingMultidisciplinaryQGene Expression Regulation DevelopmentalRNA sequencingCell DifferentiationGenomics021001 nanoscience & nanotechnologyData processingDNA-Binding ProteinsInterferon Regulatory FactorsSingle-Cell Analysis0210 nano-technologyAlgorithmsOmics technologiesSignal TransductionLineage differentiationScienceComputational biologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesErythroid CellsAnimalsCell LineageGeneral Chemistrydevelopmental trajectories visualizationHematopoietic Stem CellsPipeline (software)Visualization030104 developmental biologyTheoryofComputation_MATHEMATICALLOGICANDFORMALLANGUAGESCellular heterogeneitySingle cell analysilcsh:QGene expressionTranscriptomeTranscription FactorsNature Communications
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Informational and linguistic analysis of large genomic sequence collections via efficient Hadoop cluster algorithms

2018

Abstract Motivation Information theoretic and compositional/linguistic analysis of genomes have a central role in bioinformatics, even more so since the associated methodologies are becoming very valuable also for epigenomic and meta-genomic studies. The kernel of those methods is based on the collection of k-mer statistics, i.e. how many times each k-mer in {A,C,G,T}k occurs in a DNA sequence. Although this problem is computationally very simple and efficiently solvable on a conventional computer, the sheer amount of data available now in applications demands to resort to parallel and distributed computing. Indeed, those type of algorithms have been developed to collect k-mer statistics in…

0301 basic medicineEpigenomicsgenomic analysis; hadoop; distributed computingStatistics and ProbabilityComputer scienceBig dataSequence assemblyGenomeBiochemistryDomain (software engineering)Set (abstract data type)03 medical and health sciencesdistributed computingSoftwareComputational Theory and MathematicAnimalsCluster AnalysisHumansA-DNAk-mer counting distributed computing hadoop map reduceMolecular BiologyEpigenomicsBacteriabusiness.industryk-mer countingEukaryotaLinguisticsComputer Science Applications1707 Computer Vision and Pattern RecognitionGenomicsSequence Analysis DNAComputer Science ApplicationsComputational Mathematics030104 developmental biologymap reduceComputational Theory and MathematicsDistributed algorithmgenomic analysisKernel (statistics)MetagenomehadoopbusinessAlgorithmAlgorithmsSoftware
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Immunological properties of oxygen-transport proteins: hemoglobin, hemocyanin and hemerythrin

2016

It is now well documented that peptides with enhanced or alternative functionality (termed cryptides) can be liberated from larger, and sometimes inactive, proteins. A primary example of this phenomenon is the oxygen-transport protein hemoglobin. Aside from respiration, hemoglobin and hemoglobin-derived peptides have been associated with immune modulation, hematopoiesis, signal transduction and microbicidal activities in metazoans. Likewise, the functional equivalents to hemoglobin in invertebrates, namely hemocyanin and hemerythrin, act as potent immune effectors under certain physiological conditions. The purpose of this review is to evaluate the true extent of oxygen-transport protein dy…

0301 basic medicineErythrocytesmedicine.medical_treatmentAntimicrobial peptidesEnzyme promiscuityContext (language use)ReviewBiologyHemerythrinRedox03 medical and health sciencesHemoglobinsCellular and Molecular NeuroscienceImmune systemmedicineAnimalsHumansMolecular BiologyInnate immunityPharmacologyInnate immune system030102 biochemistry & molecular biologyMyoglobinOxygen transportHemocyaninBiological TransportCell BiologyHemerythrinImmunity InnateOxygen030104 developmental biologyMetabolismBiochemistryHemocyaninsPhenoloxidaseAntimicrobial peptidesMolecular MedicineHemoglobinCellular and Molecular Life Sciences
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