Search results for "ePRO"

showing 10 items of 6140 documents

Maternal Inheritance of a Recessive RBP4 Defect in Canine Congenital Eye Disease

2018

SUMMARY Maternally skewed transmission of traits has been associated with genomic imprinting and oocyte-derived mRNA. We report canine congenital eye malformations, caused by an amino acid deletion (K12del) near the N terminus of retinol-binding protein (RBP4). The disease is only expressed when both dam and offspring are deletion homozygotes. RBP carries vitamin A (retinol) from hepatic stores to peripheral tissues, including the placenta and developing eye, where it is required to synthesize retinoic acid. Gestational vitamin A deficiency is a known risk factor for ocular birth defects. The K12del mutation disrupts RBP folding in vivo, decreasing its secretion from hepatocytes to serum. T…

0301 basic medicineMaleNon-Mendelian inheritanceProtein Foldingcongenital eye defectEye Diseasesgenetic structuresNATIVE DISULFIDE BONDSMedical PhysiologyRetinoic acidReproductive health and childbirth413 Veterinary scienceMicrophthalmiavitamin Achemistry.chemical_compoundPlasmaA-vitamiini2.1 Biological and endogenous factorsMicrophthalmosPrealbuminCRYSTAL-STRUCTUREAetiologyBase Pairinglcsh:QH301-705.5Sequence DeletionPediatricwhole genome sequencingVITAMIN-A-DEFICIENCYANOPHTHALMIAPenetrancePedigreemedicine.anatomical_structurePhenotypeFemalemedicine.medical_specialtyGenotypeENDOPLASMIC-RETICULUMGenes RecessiveMETABOLISMBiologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesDogscanine geneticsInternal medicinePlacentaRETINOL-BINDING-PROTEINGeneticsmedicineAnimalsHumansRecessiveMALFORMATIONSBIOCHEMICAL BASISAmino Acid SequenceAlleleEye Disease and Disorders of VisionNutritiongenome-wide association study030102 biochemistry & molecular biologywestern blottingMUTATIONSta1184RBP4maternal inheritancemedicine.diseaseRetinol-Binding ProteinsRetinol binding proteinnuclear magnetic resonance030104 developmental biologyEndocrinologychemistryGeneslcsh:Biology (General)microphthalmiaGenetic LociHela Cells1182 Biochemistry cell and molecular biologyCongenital Structural Anomalies3111 BiomedicineBiochemistry and Cell BiologyDigestive DiseasesGenomic imprintingRetinol-Binding Proteins PlasmaHeLa Cells
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Melatonin enhances neural stem cell differentiation and engraftment by increasing mitochondrial function

2017

Mendivil-Perez, Miguel et al.

0301 basic medicineMaleParkinson's diseaseCellMice TransgenicBiologyMitochondrionTransplantmedicine.disease_causeMelatonin03 medical and health sciencesMice0302 clinical medicineEndocrinologyAlzheimer DiseasemedicineAnimalsreproductive and urinary physiologyMelatoninNeuronsNeural stem cellsATP synthaseGraft SurvivalCell Differentiationmedicine.diseaseAntigens DifferentiationNeural stem cellnervous system diseasesCell biologyMitochondriaTransplantation030104 developmental biologymedicine.anatomical_structurenervous systemOxidative stressbiology.proteinParkinson’s diseaseNeuroscienceAlzheimer’s disease030217 neurology & neurosurgeryOxidative stressmedicine.drug
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High Throughput Sequencing Identifies Misregulated Genes in the Drosophila Polypyrimidine Tract-Binding Protein (hephaestus) Mutant Defective in Sper…

2015

The Drosophila polypyrimidine tract-binding protein (dmPTB or hephaestus) plays an important role during spermatogenesis. The heph2 mutation in this gene results in a specific defect in spermatogenesis, causing aberrant spermatid individualization and male sterility. However, the array of molecular defects in the mutant remains uncharacterized. Using an unbiased high throughput sequencing approach, we have identified transcripts that are misregulated in this mutant. Aberrant transcripts show altered expression levels, exon skipping, and alternative 5' ends. We independently verified these findings by reverse-transcription and polymerase chain reaction (RT-PCR) analysis. Our analysis shows m…

0301 basic medicineMalePhysiologyMutantGene Expressionlcsh:MedicineArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryConserved sequence0302 clinical medicineSequencing techniquesReproductive PhysiologyAnimal CellsInvertebrate GenomicsMedicine and Health SciencesDrosophila ProteinsProtein IsoformsCell Cycle and Cell Divisionlcsh:ScienceConserved SequencePhylogenyGeneticsRegulation of gene expressionMultidisciplinarybiologyChromosome BiologyDrosophila MelanogasterMessenger RNAHigh-Throughput Nucleotide SequencingRNA sequencingAnimal ModelsGenomicsSpermatidsInsectsNucleic acidsMeiosisCell ProcessesDrosophilaDrosophila melanogasterTranscription Initiation SiteCellular TypesDrosophila ProteinPolypyrimidine Tract-Binding ProteinResearch ArticleArthropodaMolecular Sequence DataReal-Time Polymerase Chain ReactionResearch and Analysis Methods03 medical and health sciencesModel OrganismsGeneticsAnimalsPolypyrimidine tract-binding proteinRNA MessengerSpermatogenesisMolecular Biology TechniquesMolecular BiologyBinding SitesBase SequenceGene Expression Profilinglcsh:ROrganismsBiology and Life SciencesCell BiologyReverse Transcriptase-Polymerase Chain Reactionbiology.organism_classificationInvertebratesExon skippingSpermGene expression profiling030104 developmental biologyGene OntologyGerm CellsGene Expression RegulationAnimal GenomicsMutationbiology.proteinRNAlcsh:QTranscriptome030217 neurology & neurosurgeryPLoS ONE
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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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Characterization of the porcine seminal plasma proteome comparing ejaculate portions.

2016

Full identification of boar seminal plasma (SP) proteins remains challenging. This study aims to provide an extensive proteomic analysis of boar SP and to generate an accessible database of boar SP-proteome. A SP-pool (33 entire ejaculates/11 boars; 3 ejaculates/boar) was analyzed to characterize the boar SP-proteome. Twenty ejaculates (5 boars, 4 ejaculates/boar) collected in portions (P1: first 10 mL of sperm rich ejaculate fraction (SRF), P2: rest of SRF and P3: post-SRF) were analyzed to evaluate differentially expressed SP-proteins among portions. SP-samples were analyzed using a combination of SEC, 1-D SDS PAGE and NanoLC-ESI-MS/MS followed by functional bioinformatics. The identified…

0301 basic medicineMaleProteomicsendocrine systemBOARProteomeSwineQuantitative proteomicsBiophysicsComputational biologyBioinformatik och systembiologiBiologyBioinformaticsBiochemistry03 medical and health sciencesTandem Mass SpectrometryAnimalsPorcine; Ejaculate; Seminal plasma; ProteomeEjaculationSperm qualityDatabases ProteinLabel freeBioinformatics and Systems Biologyurogenital systemProteomic ProfilingReproductionSeminal Plasma ProteinsComputational BiologySpermSemen Analysis030104 developmental biologyFertilityGene Expression RegulationBiological significanceProteomeElectrophoresis Polyacrylamide GelChromatography LiquidJournal of proteomics
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Effect of counting chamber depth on the accuracy of lensless microscopy for the assessment of boar sperm motility.

2017

Sperm motility is one of the most significant parameters in the prediction of male fertility. Until now, both motility analysis using an optical microscope and computer-aided sperm analysis (CASA-Mot) entailed the use of counting chambers with a depth to 20 µm. Chamber depth significantly affects the intrinsic sperm movement, leading to an artificial motility pattern. For the first time, laser microscopy offers the possibility of avoiding this interference with sperm movement. The aims of the present study were to determine the different motility patterns observed in chambers with depths of 10, 20 and 100 µm using a new holographic approach and to compare the results obtained in the 20-µm c…

0301 basic medicineMaleSwineMotilityBeat (acoustics)Reproductive technologyKinematicsBiologylaw.invention03 medical and health sciences0302 clinical medicineEndocrinologyOptical microscopelawMicroscopyGeneticsImage Processing Computer-AssistedAnimalsMolecular BiologySperm motilityMicroscopy030219 obstetrics & reproductive medicineSperm CountSpermSpermatozoaSemen Analysis030104 developmental biologyReproductive MedicineSperm MotilityAnimal Science and ZoologyDevelopmental BiologyBiotechnologyBiomedical engineeringReproduction, fertility, and development
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Vitellogenin-like A–associated shifts in social cue responsiveness regulate behavioral task specialization in an ant

2018

Division of labor and task specialization explain the success of human and insect societies. Social insect colonies are characterized by division of labor, with workers specializing in brood care early and foraging later in life. Theory posits that this task switching requires shifts in responsiveness to task-related cues, yet experimental evidence is weak. Here, we show that a Vitellogenin (Vg) ortholog identified in an RNAseq study on the ant T. longispinosus is involved in this process: using phylogenetic analyses of Vg and Vg-like genes, we firstly show that this candidate gene does not cluster with the intensively studied honey bee Vg but falls into a separate Vg-like A cluster. Second…

0301 basic medicineMaleTask switchingAgingFat BodySocial SciencesGene ExpressionGenes InsectBiochemistryFatsVitellogeninsSociologyGene Regulatory NetworksForagingBiology (General)reproductive and urinary physiologyPhylogenyAnimal BehaviorBehavior AnimalGeneral NeuroscienceEukaryotaBeesLipidsANTInsectsAnimal SocialityGene Knockdown TechniquesMultigene FamilySocial SystemsInsect ProteinsFemaleCuesGeneral Agricultural and Biological SciencesHoney BeesDivision of labourResearch ArticleArthropodaQH301-705.5ForagingBiologyModels BiologicalGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesSpecies Specificityddc:570Specialization (functional)GeneticsAnimalsSocial BehaviorBehaviorGeneral Immunology and MicrobiologyAntsfungiOrganismsBiology and Life SciencesHoney beeSocial cueInvertebratesHymenopteraBrood030104 developmental biologyEvolutionary biologyZoologyPLoS Biology
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Effect of different oxidative stress degrees generated by hydrogen peroxide on motility and DNA fragmentation of zebrafish (Danio rerio) spermatozoa.

2018

An increase in reactive oxygen species (ROS) or decrease in antioxidant barriers can provoke lipid peroxidation of the membranes or DNA damage of the spermatozoa. The aim of this work is to study the effect of the different degrees of oxidative stress generated by H2 O2 incubation on total motility, kinetics, and DNA fragmentation of zebrafish (Danio rerio) spermatozoa. For this process, experimental groups were incubated in 50 µM (Low; L) and 200 µM (High; H) H2 O2 , respectively, for 20 min at 4oC. Sperm motility parameters were obtained with a computer-assisted sperm analysis (CASA) system. Sperm DNA fragmentation (SDF) was assessed using the sperm chromatin dispersion test. Both low and…

0301 basic medicineMaleendocrine systemDNA damageMotilitymedicine.disease_causeAndrologyLipid peroxidation03 medical and health scienceschemistry.chemical_compound0302 clinical medicineEndocrinologymedicineImage Processing Computer-AssistedAnimalsSperm motilityZebrafishchemistry.chemical_classificationReactive oxygen species030219 obstetrics & reproductive medicineurogenital systemHydrogen PeroxideSpermSpermatozoaOxidative Stress030104 developmental biologychemistrySperm MotilityDNA fragmentationAnimal Science and ZoologyOxidative stressBiotechnologyDNA DamageReproduction in domestic animals = Zuchthygiene
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Limited proteolysis by acrosin affects sperm-binding and mechanical resilience of the mouse zona pellucida.

2021

Abstract The encounter of oocyte and sperm is the key event initiating embryonic development in mammals. Crucial functions of this existential interaction are determined by proteolytic enzymes, such as acrosin, carried in the sperm head acrosome, and ovastacin, stored in the oocyte cortical granules. Ovastacin is released upon fertilisation to cleave the zona pellucida, a glycoprotein matrix surrounding the oocyte. This limited proteolysis hardens the oocyte envelope, and thereby provides a definitive block against polyspermy and protects the developing embryo. On the other hand, acrosin, the renowned and most abundant acrosomal protease, has been thought to enable sperm to penetrate the oo…

0301 basic medicineMaleendocrine systemEmbryologyBiologyZona Pellucida Glycoproteins03 medical and health sciencesMice0302 clinical medicineGeneticsmedicineAnimalsAcrosomeZona pellucidaMolecular Biologyreproductive and urinary physiologyFertilisationZona PellucidaMammalsSperm-Ovum InteractionsAcrosinurogenital systemProteolytic enzymesObstetrics and GynecologyCell BiologyPolyspermyAcrosinOocyteSpermSpermatozoaCell biology030104 developmental biologymedicine.anatomical_structureReproductive Medicineembryonic structuresProteolysisAcrosome030217 neurology & neurosurgeryDevelopmental BiologyMolecular human reproduction
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Bovine piRNA-like RNAs are associated with both transposable elements and mRNAs.

2017

PIWI proteins and their associated piRNAs have been the focus of intensive research in the past decade; therefore, their participation in the maintenance of genomic integrity during spermatogenesis has been well established. Recent studies have suggested important roles for the PIWI/piRNA system outside of gametogenesis, based on the presence of piRNAs and PIWI proteins in several somatic tissues, cancers, and the early embryo. Here, we investigated the small RNA complement present in bovine gonads, gametes, and embryos through next-generation sequencing. A distinct piRNA population was present in the testis as expected. However, we also found a large population of slightly shorter, 24–27 n…

0301 basic medicineMaleendocrine systemEmbryologySmall RNAPopulationPiwi-interacting RNABiologyTranscriptome03 medical and health sciencesEndocrinologyTestisAnimalsRNA MessengerSmall nucleolar RNARNA Small InterferingeducationSpermatogenesisAU-rich elementeducation.field_of_studyurogenital systemObstetrics and GynecologyRNACell BiologyFold changeCell biology030104 developmental biologyReproductive MedicineDNA Transposable ElementsOocytesCattleFemaleTranscriptomeReproduction (Cambridge, England)
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