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Multi-tissue transcriptomics of a unique monozygotic discordant twin case of severe progressive osseous heteroplasia

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Genes & Diseases 2024年第3期11卷 22-25页

作者： Alberto Gomez-Carballa Maria Jose Curras-Tuala Sara Pischedda Miriam Cebey-Lopez Jose Gomez-Rial Irene Rivero-Cale Jacobo Pardo-seco Xabier Bello Sandra Viz-Lasheras Antonio Justicia-Grande Julian Montoto-Louzao Alba Camino-Mera Isabel Ferreiros-Vidal Maximo Fraga Jose RAntunez Rodolfo Gomez Federico Martinon-Torres Antonio Salas Genetics Vaccines and Infections Research Group(GENVIP)Instituto de Investigacion Sanitaria de SantiagoSantiagode CompostelaGalicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Laboratorio de Inmunologia Servicio de Andlisis ClinicosHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Unidade de Xenetica Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigacion SanitariaHospital Clinico Universitario de Santiago de CompostelaServicio Galego de Saude(SERGAS)Galicia 15706Spain Musculoskeletal Pathology Group Instituto de Investigacion Sanitaria de SantiagoServicio Galego de Saude(SERGAS)Santiago de CompostelaGalicia 15706Spain department of Pathology Hospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Unidad Integrada de BiobancosBiomodelos 3D y Modelos Animales IDIS(lnstituto de Investigacion Sanitaria de Santiagode Compostela)Galicia15706Spain Centro de Investigacion Biomedica en Red de Enfermedades Respiratorias(CIBER-ES) MadridSpain

Progressive osseous heteroplasia(POH)is an ultra-rare autosomal dominant disabling disorder characterized by heterotopic ossification(HO).It is caused by heterozygous inactivating mutations in the GNAS(guanine nucleotide-binding protein alpha-stimulating activity polypeptide)gene.However,the molecular mechanisms underlying HO remain poorly understood.As a treatment for POH is not yet available,the identification of the mechanisms driving POH in affected tissues using gene expression may be of great help to underestand the molecular basis of POH and develop new therapeutic approaches.

关键词： stimulating driving asi

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Template-free nanostructured particle growth via a one-pot continuous gradient nanoprecipitation

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Aggregate 2024年第1期5卷 409-418页

作者： Xie Cheng Shuai Wang Julien Bernard François Ganachaud Xibo Yan School of Chemical Engineering and Technology Tianjin UniversityTianjinChina College of Food Science and Engineering Tianjin University of Science and TechnologyTianjinChina universitéde Lyon CNRSUniversitéClaude Bernard Lyon 1INSA-LyonUniversitéJean MonnetUMR5223Ingénierie des Matériaux PolymèresVilleurbanne CedexFrance

Engineered nanoparticles have emerged as new types of materials for a wide range of applications from therapeutics to energy.Still,fabricating nanomaterials presenting complex inner morphologies and shapes in a simple manner remains a great challenge.Herein,we report the template-free one-pot continuous gradient nanoprecipitation of different types of non-compatible polymers to spontaneously form nanostructured particles.The continuous addition of antisolvent induces precipitation and(re)organization of polymer chains at the forming particle interface,ultimately and naturally developing complex inner morphologies and shapes while particle grows.This low-energy-cost bottom-up assembly approach applies to various functional polymers,possibly embedded with metal nanoparticles,for continuous growth into well-organized nanoparticles.UV crosslinking of the particles and core removal allows both confirming the building process and leading to hollow or multivoid nanomaterials.

关键词： aggregation nanoprecipitation phase diagrams polymeric nanoparticles self-assembly

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Environmental drivers of long-term variations in the abundance of the red hocicudo mouse (Oxymycterus rufus) in Pampas agroecosystems

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Integrative Zoology 2024年第1期19卷 37-51页

作者： Laura Mariel CALFAYAN Regino CAVIA Jimena FRASCHINA Juan Santiago GUIDOBONO Irene Laura GOROSITO María BUSCH Laboratorio de Ecología de Poblaciones Departamento de EcologíaGenética y EvoluciónFacultad de Ciencias Exactas y NaturalesUniversidad de Buenos Aires and Instituto de EcologíaGenética y Evolución de Buenos Aires(IEGEBA)Buenos AiresArgentina

During the 20th century,there has been an ongoing agricultural expansion and global warming,two of the main determinants influencing biodiversity changes in Argentina.The red hocicudo mouse(Oxymycterus rufus)inhabits subtropical grasslands and riparian habitats and has increased its abundance in recent years in central Argentina agroecosystems.This paper describes the long-term temporal changes in O.rufus abundance in Exaltación de la Cruz department,Buenos Aires province,Argentina,in relation to weatherfluctuations and landscape features,as well as analyzes the spatio-temporal structure of captures of animals.We used generalized liner models,semi-variograms,the Mantel test,and autocorrelation functions for the analysis of rodent data obtained from trappings conducted between 1984 and 2014.O.rufus showed an increase in abundance across the years of study,with its distribution depending on landscape features,such as habitat types and the distance tofloodplains.Capture rates showed a spatio-temporal aggregation,suggesting expansion from previously occupied sites.O.rufus was more abundant at lower minimum temperatures in summer,higher precipitation in spring and summer,and lower precip-itations in winter.Weather conditions affected O.rufus abundance,but there was local variation that differed from global patterns of climate change.

关键词： agroecosystems climate change linear habitats Oxymycterus rufus rodent

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Bacterial plant pathogens affect the locomotor behavior of the insect vector:a case study of Citrus volkameriana-Triozae erytreae-Candidatus Liberibacter asiaticus system

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Insect Science 2024年第3期31卷 901-910页

作者： Arnaud Ameline Alain Karkach Thomas denoirjean Martial Grondin Florencia Molinari Patrick Turpin Helene delatte Bernard Reynaud UMR CNRS 7058 EDYSAN(Ecologie et Dynamique des Systemes Anthropises) Universite de Picardie Jules VerneAmiensCedexFrance UMR PVBMT(Peuplements végétaux et bioagresseurs en milieu tropical) Universitéde la RéunionSaint PierreLa RéunionFrance

Plant pathogens can alter the behavior of their insect vectors as well as their survival and reproduction.The African psyllid,Trioza erytreae,is one of the vectors of Huanglongbing,a citrus disease caused mainly by"Candidatus Liberibacter asiaticus"(CLas).The purpose of this study was to characterize the effects of CLas on the psyllid,T.erytreae using Citrus volkamerina plants as the study system.The study focused more specifically on the CLas effects prior to and after its acquisition by the psyllid T.erytreae.Our results did not support the hypothesis that CLas effects psyllid probing behavior prior to acquisition;few differences were observed between uninfected T.erytrea feeding on CLas-infected versus control plants.On the other hand,compared to psyllids that had completed their development on control plants,the ones that had completed their development on a CLas-infected plant exhibited changes in their behavior(greater velocity),physiology(smaller mass)and biochemistry(lower water and lipid content).Altogether,our results confirm the existence of a marked postacquisition effect on the vector locomotor behavior and a minor preacquisition effect of CLas on the vector behavior,which can be partially explained by physiological and biochemical changes.

关键词： electrical penetration graph Huanglongbing locomotory behavior lipid biomass probing behavior vector manipulation

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Increasing dietary fiber intake for type 2 diabetes mellitus management: A systematic review

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World Journal of Diabetes 2024年第5期15卷 1001-1010页

作者： Douglas Nitzke Juliana Czermainski Carolina Rosa Chaline Coghetto Sabrina Alves Fernandes Randhall B Carteri department of Nutrition Centro Universitário CESUCACachoeirinha 94935-630Brazil department of Hepatology Universidade Federal de Ciências da Saúde de Porto AlegrePorto Alegre 90430-080Brazil Postgraduate Program in Hepatology Universidade Federal de Ciências da Saúde de Porto AlegrePorto Alegre 90050-170Brazil Postgraduate Program in Hepatology Federal University of Health Sciences of Porto Alegre(UFCSPA)Porto Alegre 90050-170Brazil

BACKGROUND Type 2 diabetes is a chronic,non-communicable disease with a substantial global impact,affecting a significant number of individuals.Its etiology is closely tied to imbalanced dietary practices and sedentary lifestyles.Conversely,increasing die-tary fiber(DF)intake has consistently demonstrated health benefits in numerous studies,including improvements in glycemic control and weight management.AIM To investigate the efficacy of DF interventions in the management of type 2 diabetes mellitus(T2DM).METHODS A systematic literature review was conducted to explore the association between DF intake and the management of T2DM.Following the inclusion and exclusion criteria,a total of 26 studies were included in this review.RESULTS The main strategies implied to increased DF intake were:High DF diet plus acarbose(2 studies);DF supplements(14 studies);and high DF diets(10 studies).Overall,most studies indicated that increased DF intake resulted in im-provements in glycemic control and weight management in T2DM patients.CONCLUSION DF represents a valuable strategy in the treatment of type 2 diabetes,improving health outcomes.DF intake offers the potential to improve quality of life and reduce complications and mortality associated with diabetes.Likewise,through supplements or enriched foods,DF contributes significantly to the control of several markers such as HbA1c,blood glucose,triglycerides,low-density lipoprotein,and body weight.

关键词： Type 2 diabetes mellitus Soluble fibers Insoluble fibers Probiotics Blood glucose Nutrition

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Plant cell wall-mediated disease resistance:Current understanding and future perspectives

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Molecular Plant 2024年第5期17卷 699-724页

作者： Antonio Molina Lucıa Jorda Miguel Angel Torres Marina Martın-Dacal Diego Jose Berlanga Patricia Fernandez-Calvo Elena Gomez-Rubio Sonsoles Martın-Santamarıa Centro de Biotecnología y Genómica de Plantas Universidad Politécnica de Madrid(UPM)-Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria(INIA/CSIC)Campus de Montegancedo UPMPozuelo de Alarcon(Madrid)Spain departamento de Biotecnologıa-Biología Vegetal Escuela Técnica Superior de Ingenierıa AgronomicaAlimentarıa y de BiosistemasUPMMadridSpain Centro de Investigaciones Biologicas Margarita Salas Consejo Superior de Investigaciones Científicas(CSIC)Ramiro de Maeztu 928040 MadridSpain Misión Biológica de Galicia Consejo Superior de Investigaciones Científicas(CSIC)Campus de Montegancedo UPMPozuelo de Alarcón(Madrid)Spain

Beyond their function as structural barriers,plant cell walls are essential elements for the adaptation of plants to environmental conditions.Cell walls are dynamic structures whose composition and integrity can be altered in response to environmental challenges and developmental cues.These wall changes are perceived by plant sensors/receptors to trigger adaptative responses during development and upon stress perception.Plant cell wall damage caused by pathogen infection,wounding,or other stresses leads to the release of wall molecules,such as carbohydrates(glycans),that function as damage-associated molecular patterns(DAMPs).DAMPs are perceived by the extracellular ectodomains(ECDs)of pattern recognition receptors(PRRs)to activate pattern-triggered immunity(PTI)and disease resistance.Similarly,glycans released from the walls and extracellular layers of microorganisms interacting with plants are recognized as microbe-associated molecular patterns(MAMPs)by specific ECD-PRRs triggering PTI responses.The number of oligosaccharides DAMPs/MAMPs identified that are perceived by plants has increased in recent years.However,the structural mechanisms underlying glycan recognition by plant PRRs remain limited.Currently,this knowledge is mainly focused on receptors of the LysM-PRR family,which are involved in the perception of various molecules,such as chitooligosaccharides from fungi and lipo-chitooligosaccharides(i.e.,Nod/MYC factors from bacteria and mycorrhiza,respectively)that trigger differential physiological responses.Nevertheless,additional families of plant PRRs have recently been implicated in oligosaccharide/polysaccharide recognition.These include receptor kinases(RKs)with leucine-rich repeat and Malectin domains in their ECDs(LRR-MAL RKs),Catharanthus roseus RECEPTOR-LIKE KINASE 1-LIKE group(CrRLK1L)with Malectin-like domains in their ECDs,as well as wall-associated kinases,lectin-RKs,and LRR-extensins.The characterization of structural basis of glycans recognition by these new plant receptors will shed light

关键词： Arabidopsis thaliana cell wall damage-associated molecular patterns DAMPs disease resistance glycans oligosaccharides pattern-triggered immunity PTl pattern recognition receptor PRRs

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Common interacting genetic variation shapes susceptibility to type 1 diabetes in a Colombian Caribbean community:In search of shared genetic markers

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Genes & Diseases 2024年第4期11卷 106-108页

作者： Gloria Garavito-de Egea Alex Dominguez-Vargas Jorg e l.Velez Gustavo Aroca Luis Fagng Elkin Navarro-Quiroz Zilac Espitaleta Kenny del Toro-Camargo Leticia Martinez-Ariza Tatiana Gonzalez-Vargas Susana Garcia Mauricio Arcos-Burgos Eduardo Egea Universidad del Norte Division Ciencias de la SaludBarranquillaColombia Universidad Simon Bolivar Facultad de Ciencias de la SaludBarranquillaColombia Clinica de la Costa Grupo de Investigacion en NefrologiaBarranquillaColombia Universidad de Antioquia Grupo de Investigacion en Psiquiatria(GIPSI)Departamento de PsiquiatriaInstituto de Investigaciones MedicasFacultad de MedicinaMedellinColombia

Genome-wide association studies(GWASs)have identified hundreds of loci across the human genome conferring susceptibility to autoimmune diseases(AIDs),some of which are shared between more than two diseases.However,thi... 详细信息

关键词： susceptibility diseases diabetes

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Experimental and numerical investigation to elucidate the fluid flow through packed beds with structured particle packings

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Particuology 2024年第6期89卷 218-237页

作者： Shirin Patil Christian Gorges Joel Lòpez Bonilla Moritz Stelter Frank Beyrau Berend van Wachem Laboratory of Technical Thermodynamics Otto-von-Guericke-Universität MagdeburgUniversitätsplatz 239106 MagdeburgGermany Chair of Mechanical Process Engineering Otto-von-Guericke-Universität MagdeburgUniversitätsplatz 239106 MagdeburgGermany

The present paper presents an experimental and numerical investigation of the dispersion of the gaseous jet flow and co-flow for the simple unit cell(SUC)and body-centred cubic(BCC)configuration of particles in packed beds.The experimental setup is built in such a way that suitable and simplified boundary conditions are imposed for the corresponding numerical framework,so the simulations can be done under very similar conditions as the experiments.Accordingly,a porous plate is used for the co-flow to achieve the uniform velocity and the fully developed flow is ensured for the jet flow.The SUC and BCC particle beds consist of 3D-printed spheres,and the non-isotropy near the walls is mostly eliminated by placing half-spheres at the channel walls.The flow velocities are analysed directly at the exit of the particle bed for both beds over 36 pores for the SUC configuration and 60 pores for the BCC configuration,for particle Reynolds numbers of 200,300,and 400.Stereo particle image velocimetry is experimentally arranged in such a way that the velocities over the entire region at the exit of the packed bed are obtained instantaneously.The numerical method consists of a state-of-the-art immersed boundary method with adaptive mesh refinement.The paper presents the pore jet structure and velocity field exiting from each pore for the SUC and BCC packed particle beds.The numerical and experimental studies show a good agreement for the SUC configuration for all flow velocities.For the BCC configuration,some differences can be observed in the pore jet flow structure between the simulations and the experiments,but the general flow velocity distribution shows a good overall agreement.The axial velocity is generally higher for the pores located near the centre of the packed bed than for the pores near the wall.In addition,the axial velocities are observed to increase near the peripheral pores of the packed bed.This behaviour is predominant for the BCC configuration as compared to the SUC configuration.The velocities near the per

关键词： Uniform particle packing Packed bed reactor Stereo particle image velocimetry Immersed boundary method

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Unilateral rNurr1-V5 transgene expression in nigral dopaminergic neurons mitigates bilateral neuropathology and behavioral deficits in parkinsonian rats withα-synucleinopathy

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Neural Regeneration Research 2024年第9期19卷 2057-2067页

作者： Bismark Gatica-Garcia Michael J.Bannon Irma Alicia Martínez-Dávila Luis O.Soto-Rojas David Reyes-Corona Lourdes Escobedo Minerva Maldonado-Berny ME Gutierrez-Castillo Armando J.Espadas-Alvarez Manuel A.Fernandez-Parrilla Juan U.Mascotte-Cruz CP Rodríguez-Oviedo Irais E.Valenzuela-Arzeta Claudia Luna-Herrera Francisco E.Lopez-Salas Jaime Santoyo-Salazar Daniel Martinez-Fong departamento de Fisiología Biofísica y NeurocienciasCentro de Investigación y de Estudios AvanzadosCiudad de MéxicoMéxico department of Pharmacology Wayne State University School of MedicineDetroitMIUSA Laboratorio de Patogénesis Molecular Carrera Médico CirujanoFacultad de Estudios Superiores IztacalaUniversidad Nacional Autónoma de MéxicoTlalnepantla de BazMéxico Red de Medicina para la Educación y desarrollo y la Investigación Científica de Iztacala(Red MEDICI) Carrera Médico CirujanoFacultad de Estudios Superiores IztacalaUniversidad Nacional Autónoma de MéxicoTlalnepantla de BazMéxico Nanoparticle Therapy Institute AguascalientesMéxico departamento de Biociencias e Ingeniería Centro Interdisciplinario de Investigaciones y Estudios sobre Medio Ambiente y DesarrolloInstituto Politécnico NacionalCiudad de MéxicoMéxico Escuela Nacional de Medicina y Homeopatía Instituto Politécnico NacionalCiudad de MéxicoMéxico departamento de Fisiología Escuela Nacional de Ciencias BiológicasInstituto Politécnico NacionalCiudad de MéxicoMéxico departamento de Biología Molecular y Biotecnología Instituto de Investigaciones BiomédicasUniversidad Nacional Autónoma de MéxicoCiudad de MéxicoMéxico departamento de Física Centro de Investigación y de Estudios AvanzadosCiudad de MéxicoMéxico Programa de Nanociencias y Nanotecnología Centro de Investigación y de Estudios AvanzadosCiudad de MéxicoMéxico

Parkinsonism by unilateral,intranigralβ-sitosterolβ-D-glucoside administration in rats is distinguished in that theα-synuclein insult begins unilaterally but spreads bilaterally and increases in severity over time,thus replicating several clinical features of Parkinson’s disease,a typicalα-synucleinopathy.As Nurr1 repressesα-synuclein,we evaluated whether unilateral transfected of rNurr1-V5 transgene via neurotensin-polyplex to the substantia nigra on day 30 after unilateralβ-sitosterolβ-D-glucoside lesion could affect bilateral neuropathology and sensorimotor deficits on day 30 post-transfection.This study found that rNurr1-V5 expression but not that of the green fluorescent protein(the negative control)reducedβ-sitosterolβ-D-glucoside-induced neuropathology.Accordingly,a bilateral increase in tyrosine hydroxylase-positive cells and arborization occurred in the substantia nigra and increased tyrosine hydroxylase-positive ramifications in the striatum.In addition,tyrosine hydroxylase-positive cells displayed less senescence markerβ-galactosidase and more neuron-cytoskeleton markerβIII-tubulin and brain-derived neurotrophic factor.A significant decrease in activated microglia(positive to ionized calcium-binding adaptor molecule 1)and neurotoxic astrocytes(positive to glial fibrillary acidic protein and complement component 3)and increased neurotrophic astrocytes(positive to glial fibrillary acidic protein and S100 calcium-binding protein A10)also occurred in the substantia nigra.These effects followed the bilateral reduction inα-synuclein aggregates in the nigrostriatal system,improving sensorimotor behavior.Our results show that unilateral rNurr1-V5 transgene expression in nigral dopaminergic neurons mitigates bilateral neurodegeneration(senescence and loss of neuron-cytoskeleton and tyrosine hydroxylase-positive cells),neuroinflammation(activated microglia,neurotoxic astrocytes),α-synuclein aggregation,and sensorimotor deficits.Increased neurotrophic astrocytes and brain-derived neurotrophic factor can mediate t

关键词： A1 astrocytes A2 astrocytes gene therapy microglia motor deficits nanoparticles neurodegeneration neuroinflammation senescence α-synuclein aggregates

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5-Bromo-2'-deoxyuridine labeling:historical perspectives,factors infiuencing the detection,toxicity,and its implications in the neurogenesis

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Neural Regeneration Research 2024年第2期19卷 302-308页

作者： Joaquín Martí-Clúa Unidad de Citología e Histología.departament de Biologia Cel·lular de Fisiologia i d’Immunologia.Facultad de Biociencias.Institut de Neurociències.Universidad Autónoma de Barcelona08193 BellaterraBarcelonaSpain

The halopyrimidine 5-bromo-2′-deoxyuridine(BrdU)is an exogenous marker of DNA synthesis.Since the introduction of monoclonal antibodies against BrdU,an increasing number of methodologies have been used for the immunodetection of this synthesized bromine-tagged base analogue into replicating DNA.BrdU labeling is widely used for identifying neuron precursors and following their fate during the embryonic,perinatal,and adult neurogenesis in a variety of vertebrate species including birds,reptiles,and mammals.Due to BrdU toxicity,its incorporation into replicating DNA presents adverse consequences on the generation,survival,and settled patterns of cells.This may lead to false results and misinterpretation in the identification of proliferative neuroblasts.In this review,I will indicate the detrimental effects of this nucleoside during the development of the central nervous system,as well as the reliability of BrdU labeling to detect proliferating neuroblasts.Moreover,it will show factors influencing BrdU immunodetection and the contribution of this nucleoside to the study of prenatal,perinatal,and adult neurogenesis.Human adult neurogenesis will also be discussed.It is my hope that this review serves as a reference for those researchers who focused on detecting cells that are in the synthetic phase of the cell cycle.

关键词： 5-bromo-2′-deoxyuridine adult neurogenesis human adult neurogenesis labeling pitfalls prenatal neurogenesis proliferation S-phase suturing S-phase toxicity

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