Search results for "PPI"

showing 10 items of 7396 documents

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

2016

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brai…

0301 basic medicineUntranslated regionTranscription GeneticCDKL5lcsh:MedicineGene ExpressionArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryExonMice0302 clinical medicineCoding regionProtein Isoformslcsh:ScienceGeneticsRegulation of gene expressionMultidisciplinaryMammalian GenomicsHigh-Throughput Nucleotide SequencingExonsGenomicsNucleic acidsRNA isolationPhenotypeSpasms InfantileResearch ArticleGene isoformBiologyProtein Serine-Threonine KinasesPolyadenylationResearch and Analysis MethodsBiomolecular isolation03 medical and health sciencesGeneticsAnimalsHumansAdultsAmino Acid SequenceMolecular Biology TechniquesGeneMolecular BiologyAlternative splicinglcsh:RGene MappingInfant NewbornBiology and Life SciencesReverse Transcriptase-Polymerase Chain ReactionAlternative Splicing030104 developmental biologyGene Expression RegulationRNA processingAge GroupsAnimal GenomicsMutationPeople and PlacesExon MappingRNAlcsh:QPopulation Groupings030217 neurology & neurosurgeryPloS one
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A Single-sensor High-resolution Panoramic Optical Mapping Configuration for Simultaneous Non-overlapped Complete Atrial and Ventricular Parametric Im…

2017

Nowadays optical mapping (OM) is the primary method for imaging electrophysiologically relevant parameters from the outer surface of Langendorff-perfused hearts. This technique has become essential for comprehensively understanding mechanisms of cardiac propagation during physiological activation, arrhythmia, and therapeutic antiarrhythmic interventions in translational hearts. Panoramic whole heart optical mapping systems, using either multiple cameras, plane mirrors or a combination of both, have been developed to overcome intrinsic visualization limitations to traditional single-sensor designs. However current panoramic OM systems are financially challenging for physiology and engineerin…

0301 basic medicineVentricular functionbusiness.industryComputer scienceSpatially resolvedHigh resolutionPlane mirror01 natural sciencesMultiple sensorsVisualization010309 optics03 medical and health sciences030104 developmental biologyParametric imagingOptical mapping0103 physical sciencesComputer visionArtificial intelligencebusinessComputing in Cardiology Conference (CinC)
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First Data on the Helminth Community of the Smallest Living Mammal on Earth, the Etruscan Pygmy Shrew, Suncus etruscus (Savi, 1822) (Eulipotyphla: So…

2021

Suncus etruscus is the smallest living mammal on Earth by mass. Most adults weigh 1.8–3 g with a body length of 35–48 mm. Catching it in small mammal traps in nature is extremely difficult due to its minute size, and therefore special trapping methods must be used. We had the unique opportunity of studying, for the first time, the helminth parasites of 166 individuals of S. etruscus, part of the largest collection in the world, which belonged to the French scientist Dr Roger Fons (1942–2016). A total of 150 individuals were captured in the Banyuls-Cerbère area (France) and 16 in the island of Corsica (France). We found seven helminth species, specifically, the cestodes Joyeuxiella pasqualei…

0301 basic medicineVeterinary medicineZoologyMesocestoidesBiology<i>Joyeuxiella pasqualei larvae</i>Trapping methods03 medical and health sciences<i>Pseudhymenolepis</i> sp.biology.animalSF600-1100HelminthsSuncus etruscus<i>Suncus etruscus</i><i>Staphylocystis claudevaucheri</i><i>S. cerberensis</i>LarvaGeneral VeterinaryShrew<i>Mesocestoides</i> sp. <i>larvae</i><i>Aonchotheca</i> sp.Insectivore030108 mycology & parasitologybiology.organism_classificationhelminth community<i>S. banyulsensis</i>030104 developmental biologyQL1-991Animal Science and ZoologyMammalZoologyAnimals
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VISMapper: ultra-fast exhaustive cartography of viral insertion sites for gene therapy

2017

The possibility of integrating viral vectors to become a persistent part of the host genome makes them a crucial element of clinical gene therapy. However, viral integration has associated risks, such as the unintentional activation of oncogenes that can result in cancer. Therefore, the analysis of integration sites of retroviral vectors is a crucial step in developing safer vectors for therapeutic use. Here we present VISMapper, a vector integration site analysis web server, to analyze next-generation sequencing data for retroviral vector integration sites. VISMapper can be found at: http://vismapper.babelomics.org . Because it uses novel mapping algorithms VISMapper is remarkably faster t…

0301 basic medicineWeb serverVirus IntegrationGenetic enhancementGenetic VectorsContext (language use)Computational biologyBiologyGenoma humàlcsh:Computer applications to medicine. Medical informaticscomputer.software_genreBiochemistryGenome viewerViral vectorViral integrationUser-Computer Interface03 medical and health sciencesGene therapyStructural BiologySAFERViral insertionSequence mappingHumansUltra fastGens Mapatgelcsh:QH301-705.5Molecular BiologyGeneticsInternetBase SequenceApplied MathematicsHigh-Throughput Nucleotide SequencingGenetic Therapy3. Good healthComputer Science Applications030104 developmental biologylcsh:Biology (General)lcsh:R858-859.7Viral integrationDNA microarraycomputerSoftware
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Phase separations induced by a trapping potential in one-dimensional fermionic systems as a source of core-shell structures

2018

Ultracold fermionic gases in optical lattices give a great opportunity for creating different types of novel states. One of them is phase separation induced by a trapping potential between different types of superfluid phases. The core-shell structures, occurring in systems with a trapping potential, are a good example of such separations. The types and the sequences of phases which emerge in such structures can depend on spin-imbalance, shape of the trap and on-site interaction strength. In this work, we investigate the properties of such structures within an attractive Fermi gas loaded in the optical lattice, in the presence of the trapping potential and their relations to the phase diagr…

0301 basic medicineWork (thermodynamics)lcsh:MedicineFOS: Physical sciencesTrappingMolecular physicsArticleSuperconducting properties and materialsTrap (computing)Superfluidity03 medical and health sciences0302 clinical medicinePhase (matter)lcsh:ScienceUltracold gasesPhase diagramPhysicsCondensed Matter::Quantum GasesOptical latticeMultidisciplinarylcsh:R030104 developmental biologyQuantum Gases (cond-mat.quant-gas)lcsh:QCondensed Matter - Quantum GasesFermi gas030217 neurology & neurosurgery
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Comprehensive Screening for Naturally Occurring Hepatitis C Virus Resistance to Direct-Acting Antivirals in the NS3, NS5A, and NS5B Genes in Worldwid…

2015

ABSTRACTThere is no comprehensive study available on the natural hepatitis C virus (HCV) polymorphism in sites associated with resistance including all viral genotypes which may present variable susceptibilities to particular direct-acting antivirals (DAAs). This study aimed to analyze the frequencies, genetic barriers, and evolutionary histories of naturally occurring resistance-associated variants (RAVs) in the six main HCV genotypes. A comprehensive analysis of up to 103 RAVs was performed in 2,901, 2,216, and 1,344 HCV isolates for the NS3, NS5A, and NS5B genes, respectively. We report significant intergenotypic differences in the frequencies of natural RAVs for these three HCV genes. I…

0301 basic medicineanimal structuresHepatitis C virusHepacivirusMutation MissenseGenome ViralHepacivirusViral Nonstructural Proteinsmedicine.disease_causeAntiviral Agents03 medical and health scienceschemistry.chemical_compoundGenotypeDrug Resistance ViralmedicineHumansPharmacology (medical)NS5AGeneNS5BPharmacologyGeneticsNS3Polymorphism GeneticbiologyHaplotypevirus diseasesChromosome MappingHepatitis C Chronicbiology.organism_classificationVirologydigestive system diseases030104 developmental biologyInfectious DiseaseschemistryHaplotypesAntimicrobial agents and chemotherapy
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ceRNA Network Regulation of TGF-β, WNT, FOXO, Hedgehog Pathways in the Pharynx of Ciona robusta

2021

The transforming growth factor-β (TGF-β) family of cytokines performs a multifunctional signaling, which is integrated and coordinated in a signaling network that involves other pathways, such as Wintless, Forkhead box-O (FOXO) and Hedgehog and regulates pivotal functions related to cell fate in all tissues. In the hematopoietic system, TGF-β signaling controls a wide spectrum of biological processes, from immune system homeostasis to the quiescence and self-renewal of hematopoietic stem cells (HSCs). Recently an important role in post-transcription regulation has been attributed to two type of ncRNAs: microRNAs and pseudogenes. Ciona robusta, due to its philogenetic position close to verte…

0301 basic medicineascidianpseudogenepseudogeneslcsh:ChemistryTransforming Growth Factor betaProtein Interaction MappingHomeostasisRNA-Seqlcsh:QH301-705.53' Untranslated RegionsSpectroscopyTissue homeostasisForkhead Box Protein O1Wnt signaling pathwayHigh-Throughput Nucleotide Sequencingvirus diseasesGeneral Medicinefemale genital diseases and pregnancy complicationsComputer Science ApplicationsCell biologyNGSStem cellTGF-βCell fate determinationBiologyCatalysisArticleInorganic ChemistryWNT03 medical and health sciencesmicroRNAAnimalsCell LineageHedgehog ProteinsTGF-Physical and Theoretical ChemistryMolecular BiologyHedgehogneoplasmsmiRNA030102 biochemistry & molecular biologyCompeting endogenous RNAOrganic ChemistryfungiComputational BiologyHematopoiesisWnt ProteinsMicroRNAs030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Gene Expression RegulationImmune SystemPharynxFOXOCionaTransforming growth factorInternational Journal of Molecular Sciences
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De novo transcriptome assembly of a facultative parasitic nematode Pelodera (syn. Rhabditis) strongyloides

2018

Pelodera strongyloides is a generally free-living gonochoristic facultative nematode. The whole genomic sequence of P. strongyloides remains unknown but 4 small subunit ribosomal RNA (ssrRNA) gene sequences are available. This project launched a de novo transcriptome assembly with 100 bp paired-end RNA-seq reads from normal, starved and wet-plate cultured animals. Trinity assembly tool generated 104,634 transcript contigs with N50 contig being 2195 bp and average contig length at 1103 bp. Transcriptome BLASTX matching results of five nematodes (C. elegans, Strongyloides stercoralis, Necator americanus, Trichuris trichiura, and Pristionchus pacificus) were consistent with their evolutionary …

0301 basic medicinedauerDe novo transcriptome assemblyved/biology.organism_classification_rank.speciestranscriptome assemblyTranscriptomeEvolution Molecular03 medical and health scienceschemistry.chemical_compoundContig Mapping0302 clinical medicineRNA polymerasefacultative parasiteloisetGeneticsPelodera strongyloidesAnimalsGenePhylogenyGeneticsbiologyved/biologySequence Analysis RNAGene Expression ProfilingsukkulamadotstarvationGeneral MedicineHelminth ProteinsRibosomal RNAbiology.organism_classification030104 developmental biologyPristionchus pacificuschemistryGene Expression Regulationtranskriptio (biologia)030220 oncology & carcinogenesisStrongyloidesbiology.proteinRNARhabditoideaDicer
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The Quality Perception of Fresh Berries: An Empirical Survey in the German Market

2016

AbstractThe present work aimed to investigate the main quality attributes that influence the purchase decisions of fresh berries. To this regard, an empirical survey has been conducted by interviewing 200 consumers of fresh berries at the exit of the main centers of the large scale retail trade in the city of Munich (Germany). An econometric model has been adopted to examine the relationship that single attributes has on the purchase frequency of fresh berries. Results showed that nutraceutical properties and health benefits of berries have a strong appeal to the consumers and confirmed that intrinsic attributes are determinants of consumer purchase decision

0301 basic medicinegerman market030109 nutrition & dieteticsInterviewmedia_common.quotation_subjectfresh berriesquality perceptionconsumer shopping behaviorGeneral Medicinefood qualityquality perception fresh berries food quality consumer shopping behavior german marketlanguage.human_languageGerman03 medical and health sciencesEconometric modelWork (electrical)PerceptionScale (social sciences)Settore AGR/01 - Economia Ed Estimo RuralelanguageQuality (business)BusinessMarketingFood qualitymedia_commonAgriculture and Agricultural Science Procedia
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Music style not only modulates the auditory cortex, but also motor related areas

2021

The neuroscience of music has recently attracted significant attention, but the effect of music style on the activation of auditory-motor regions has not been explored. The aim of the present study is to analyze the differences in brain activity during passive listening to non-vocal excerpts of four different music genres (classical, reggaeton, electronic and folk). A functional magnetic resonance imaging (fMRI) experiment was performed. Twenty-eight participants with no musical training were included in the study. They had to passively listen to music excerpts of the above genres during fMRI acquisition. Imaging analysis was performed at the whole-brain-level and in auditory-motor regions …

0301 basic medicinemedicine.medical_specialtyBrain activity and meditationmusiikkigenretmusiikkipsykologiaMusicalAudiologyAuditory cortexbehavioral disciplines and activitiesStyle (sociolinguistics)03 medical and health sciences0302 clinical medicinetoiminnallinen magneettikuvausmedicineHumansActive listeningmusicmotoriikkaAuditory Cortexmusic genreBrain Mappingmedicine.diagnostic_testGeneral NeurosciencefMRIMotor CortexMagnetic Resonance ImaginghumanitiesImaging analysisClassical music030104 developmental biologyaivokuoriAcoustic Stimulationauditory-motor areasAuditory PerceptionPsychologyFunctional magnetic resonance imaginghuman activities030217 neurology & neurosurgeryMusicpsychological phenomena and processesärsykkeet
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