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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： a.berto gomez-ca.ba.la.ma.ia.jose curra.-tua.a.sa.a.pischedda.miria. 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)***,the molecular mechanisms underlying HO remain poorly *** 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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Contribution of extracellular vesicles to steatosis-related liver disease and their therapeutic potential

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World Journal of Hepatology 2024年第9期16卷 1211-1228页

作者： margarita Montoya-Buelna Inocencia G Ramirez-lopez Cesar A san Juan-Garcia jose J Garcia-Regalado mariana S Millan-sanchez Ulises de la Cruz-Mosso Jesse Haramati Ana L Pereira-Suarez jose macias-barragan laboratorio de Inmunología Departamento de FisiologíaUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Departamento de Ciencias de la salud Centro Universitario de los VallesUniversidad de GuadalajaraAmeca 46600JaliscoMexico Doctorado en Ciencias Biomédicas Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico laboratorio de Inmunología Departamento de FisiologíaCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico Red de Inmunonutrición y Genómica Nutricional en las Enfermedades Autoinmunes Departamento de NeurocienciasCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico laboratorio de Inmunobiología Departamento de Biología Celular y MolecularCentro Universitario de Ciencias Biológicas y AgropecuariasUniversidad de GuadalajaraZapopan 45200JaliscoMexico Instituto de Investigación en Ciencias Biomédicas Departamento de Microbiología y PatologíaCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340JaliscoMexico

Extracellular vesicles(EVs)are small particles released by many cell types in different tissues,including the liver,and transfer specific cargo molecules from originating cells to receptor *** process generally culminates in activation of distant cells and inflammation and progression of certain *** global chronic liver disease(CLD)epidemic is estimated at 1.5 billion patients *** and liver cancer are the most common risk factors for ***,hepatitis C and B virus infection and obesity are also highly associated with ***,the etiology of many CLD pathophysiological,cellular,and molecular events are *** in hepatic lipid metabolism can lead to lipotoxicity events that induce EV ***,we aimed to present an overview of EV features,from definition to types and biogenesis,with particular focus on the molecules related to steatosis-related liver disease,diagnosis,and therapy.

关键词： Extracellular vesicles Exosomes Chronic liver disease Hepatocellular carcinoma Nonalcoholic fatty liver disease Nonalcoholic steatohepatitis

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Sexual dimorphism in the antitumor immune responses elicited by the combination of fasting and chemotherapy

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cancer Communications 2024年第4期44卷 508-513页

作者： Andrés Pastor-Fernández manuel Montero Gómez de las Heras jose Ignacio Escrig-larena marta barradas Cristina Pantoja Adrian Plaza jose Luis lopez-Aceituno Esther Durán Alejo Efeyan maria Mittelbrunn Lola martinez Pablo jose Fernandez-marcos Metabolic Syndrome Group(BIOPROMET) Madrid Institute for Advanced Studies(IMDEA)FoodE28049MadridSpain Molecular Biology Center Severo Ochoa(CBMSO) Spanish National Research Council(CSIC)Madrid Autonoma University(UAM)MadridSpain Department of basic Medical Sciences Institute of Applied Molecular MedicineSchool of MedicineUniversity Studies Center(CEU)-San Pablo UniversityMadridSpain Metabolism and Cell Signaling laboratory Spanish National cancer Research Centre(CNIO) MadridSpain 5Flow Cytometry UnitBiotechnology ProgrammeSpanish National Cancer Research Centre(CNIO)MadridSpain

Fasting reduces chemotherapy toxicity[1],enhances immunogenic tumor cell death[2,3]and increases CD8^(+)T cell infiltration in tumors,particularly when combined with chemotherapy[2,3]or immunotherapy[4].More-over,fast... 详细信息

关键词： chemotherapy fasting immune

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A new oxidative pathway of nitric oxide production from oximes in plants

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Molecular Plant 2024年第1期17卷 178-198页

作者： Pedro lopez-gomez Javier Buezo marina Urra Alfonso Cornejo Raquel Esteban Jorge Fernandez de los Reyes Estibaliz Urarte Estefania Rodriguez-Dobreva Alejandro Chamizo-Ampudia Alejandro Eguaras Sebastian Wolf Daniel marino Victor martinez-Merino jose F.Moran Institute for Multidisciplinary Research in Applied Biology(ImaB) Department of SciencesPublic University of Navarre(UPNA)Avda.de Pamplona 12331192 MutilvaSpain Institute for Advanced materials and mathematics(INAmaT2) Department of SciencesPublic University of Navarre(UPNA)Campus de Arosadia31006 PamplonaSpain Department of Plant Biology and Ecology University of the Basque Country(UPV/EHU)Sarriena s/nApdo.64448080 BilbaoSpain Center for Plant Molecular Biology(ZMBP) University of TubingenGeschwister-Scholl-Platz72074 TubingenGermany Institute of Natural Resources and Agrobiology of salamanca(IRNAsa) Department of Plant-Microorganism InteractionsSpanish National Research Council(CSIC)Cordel de Merinas40-5237008SalamancaSpain Department of Biochemistry Area of Molecular BiologyVeterinary FacultyUniversity of LeonCampus de Vegazanas/n.24071 LeonSpain

Nitric oxide(NO)is an essential reactive oxygen species and a signal molecule in *** several studies have proposed the occurrence of oxidative NO production,only reductive routes for NO production,such as the nitrate(NO_(3)^(-))-upper-reductase pathway,have been evidenced to date in land ***,plants grown axenically with ammonium as the sole source of nitrogen exhibit contents of nitrite and NO3−,evidencing the existence of a metabolic pathway for oxidative production of *** hypothesized that oximes,such as indole-3-acetaldoxime(iaOx),a precursor to indole-3-acetic acid,are intermediate oxidation products in NO *** detected the production of NO from iaOx and other oximes catalyzed by peroxidase(POD)enzyme using both 4-amino-5-methylamino-2′,7′-difluorescein fluorescence and *** stimulated the reaction,while superoxide dismutase inhibited ***,mouse NO synthase can also use iaOx to produce NO at a lower rate than *** provided a full mechanism for POD-dependent NO production from iaOx consistent with the experimental data and supported by density functional theory *** showed that the addition of iaOx to extracts from Medicago truncatula increased the in vitro production of NO,while in vivo supplementation of iaOx and other oximes increased the number of lateral roots,as shown for NO donors,and a more than 10-fold increase in iaOx dehydratase ***,we found that in vivo supplementation of iaOx increased NO production in Arabidopsis thaliana wild-type plants,while prx33-34 mutant plants,defective in POD33-34,had reduced *** data show that the release of NO by iaOx,as well as its auxinic effect,explain the superroot ***,our study reveals that plants produce NO utilizing diverse molecules such as oximes,POD,and flavins,which are widely distributed in the plant kingdom,thus introducing a long-awaited oxidative pathway to NO production in plants.T

关键词： ammonium oxidation auxin nitric oxide oxime peroxidase root phenotype

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Multi-omic study to unmask genes involved in prostate cancer development in amulti-case family

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cancer Communications 2024年第3期44卷 443-447页

作者： Lucia Chica-Redecillas Sergio Cuenca-lopez Eduardo Andres-Leon laura carmen Terron-camero Blanca cano-Gutierrez jose manuel Cozar jose Antonio Lorente Fernando Vazquez-Alonso Luis Javier martinez-Gonzalez maria Jesus Alvarez-Cubero GENYO Centre for Genomics and Oncological ResearchPfizerUniversity of GranadaAndalusian Regional GovernmentPTS GranadaGranadaGranadaSpain Department of Biochemistry Molecular Biology III and ImmunologyFaculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Bioinformatics Unit Institute of Parasitology and Biomedicine“López-Neyra”Spanish National Research CouncilGranadaGranadaSpain Nursery Service.University Hospital Clínico san Cecilio GranadaGranadaSpain Urology Department University Hospital Virgen de las NievesGranadaGranadaSpain Legal Medicine and Toxicology Department Faculty of MedicineUniversity of GranadaPTS GranadaGranadaGranadaSpain Ibs Biosanitary Research InstituteGranadaGranadaSpain

Dear Editor,Hereditary prostate cancer(PC)comprises 5%-10%of all PC *** increased risk of PC in menwith a family his-tory of the disease is well known and is commonly caused by germline mutations,leading to clinical guidelines men-tioning various genes for identifying high-risk ***,the complex inheritance patterns involvingmul-tiple single nucleotide polymorphisms(SNPs)make it a genetically heterogeneous disease,with genetic testing still in its early stages.

关键词： cancer clinical cases

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Spoon-assisted autologous particulate bone graft harvesting technique

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Chinese Journal of Plastic and Reconstructive Surgery 2024年第2期6卷 106-108页

作者： Inigo Aragon Nino Clara lopez martínez carolina Cuesta Urquía Agustín Pascual camps jose Luis Del castillo Pardo de Vera jose Luis Cebrian carretero Oral and maxillofacial Surgery Department La Paz University Hospital28046 MadridSpain

Particulate bone plays a crucial role in various oral and maxillofacial surgical procedures,including reconstruction,implantation,and craniofacial *** bone and deproteinized bovine bone xenografts are the two primary resources used for such procedures,with the former demonstrating superior cost-effectiveness and reduced comorbidity rates,particularly in cases involving donor ***,a significant challenge lies in acquiring uniformly sized autologous particulate bone specimens,with existing tools often yielding coarse particles at a high ***,commercial bone xenograft solutions are frequently favored despite lower *** technical note introduces a novel technique for swiftly,safely,and efficiently obtaining autologous particulate bone *** procedure involves the use of a motor handpiece fitted with a micro drill and surgical spoon to collect the bone *** continuous irrigation with saline maintains a clear surgical field during the milling *** collected bone particles are then transferred to a metal capsule for further *** technique offers a promising solution to the challenge of inconsistent particle size associated with harvesting using traditional methods,providing surgeons with a reliable and efficient method of obtaining autologous particulate bone samples.

关键词： Bone grafting Reconstructive surgery Craniofacial surgery Implant surgery Autologous bone

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Exploring kidney biopsy findings in congenital heart diseases:Insights beyond cyanotic nephropathy

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World Journal of Nephrology 2024年第1期13卷 25-32页

作者： jose Daniel Juarez-Villa Iván Zepeda-Quiroz Sebastián Toledo-Ramírez Victor Hugo gomez-Johnson Francisco Pérez-Allende Brian Ricardo Garibay-Vega Francisco E Rodríguez castellanos Bernardo Moguel-González Edgar Garcia-Cruz salvador lopez-Gil Department of Nephrology Instituto Nacional de Cardiología Ignacio ChavezMexico City 14080Mexico Congenital Heart Disease Instituto Nacional de Cardiología Ignacio ChavezMexico City 14080Mexico

baCKGROUND The association between congenital heart disease and chronic kidney disease is well *** mechanisms of kidney damage associated with congenital heart disease have been *** etiology of kidneydisease has commonly been considered to be secondary to focal segmental glomerulosclerosis(FSGS),however,this has only been demonstrated in case reports and not in observational or clinical *** To identify baseline and clinical characteristics,as well as the findings in kidney biopsies of patients with congenital heart disease in our *** This is a retrospective observational study conducted at the Nephrology Depart-ment of the National Institute of cardiology“Ignacio Chávez”.All patients over 16 years old who underwent percutaneous kidney biopsy from January 2000 to January 2023 with congenital heart disease were included in the *** Ten patients with congenital heart disease and kidney biopsy were *** average age was 29.00 years±15.87 years with pre-biopsy proteinuria of 6193 mg/24 h±6165 mg/24 *** most common congenital heart disease was Fallot’s tetralogy with 2 cases(20%)and ventricular septal defect with 2(20%)*** the 10 cases,one case of IgA nephropathy and one case of membranoproliferative glomerulonephritis associated with immune complexes were found,receiving specific treatment after histopathological diagnosis,delaying the initiation of kidney replacement *** remaining 8 cases(80%),one case of FSGS with perihilar variety was found,while the other 7 cases were non-specific *** Determining the cause of chronic kidney disease can help in delaying the need for kidney replacement *** 2 out of 10 patients in our study,interventions were performed,and initiation of kidney replacement therapy was *** studies are needed to determine the usefulness of kidney biopsy in patients with congenital heart disease.

关键词： Renal biopsy Congenital heart disease Chronic kidney disease Focal segmental glomerulosclerosis

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Female mate choice based on pheromone content may inhibit reproductive isolation between distinct populations of Iberian wall lizards

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Current Zoology 2013年第2期59卷 210-220页

作者： marianne GABIROT Pilar lopez jose maRTIN Departement Ecologie Comportementale (U.M.R. 5175) CEFE-CNRS 1919 Route de Mende F34293 Montpellier Cedex 5 France Departamento de Ecologia Evolutiva Museo Naeional de Ciencias Naturales C.S.I.C. Jos6 Guti6rrez Abascal 2 28006 Madrid Spain

The Iberian wall lizard Podarcis hispanica forms part of a species complex with several morphologically and geneti- cally distinct types and populations, which may or may not be reproductively isolated. We analyzed whether female mate choice based on males＇ chemical signals may contribute to a current pre-mating reproductive isolation between two distinct populations of P. hispanica from central Spain. We experimentally examined whether females choose to establish territories on areas scent-marked by males of their own population, versus areas marked by males of the other population. Results showed that fe- males did not prefer scent-marks of males from their own population. In contrast, females seemed to attend mostly to among-individual variation in males＇ pheromones that did not differ between populations. Finally, to test for strong premating re- productive isolation, we staged intersexual encounters between males and females. The population of origin of males and females did not affect the probability nor the duration of copulations. We suggest that the different environmental conditions in each population might be selecting for different morphologies and different chemical signals of males that maximize efficiency of communication in each environment. However, females in both populations based mate choice on a similar condition-dependent signal of males. Thus, male signals and female mate choice criteria could be precluding premating reproductive isolation between these phenotypically ＂distinct＂ populations [Current Zoology 59 （2）： 210-220, 2013].

关键词： Podarcis hispanica Chemical communication mate preferences mate recognition Species recognition Conflict

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Nonlinear parabolic predator-prey coupled system with convection

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International Journal of Biomathematics 2021年第2期14卷 83-118页

作者： jose Luis Diaz Palencia mariano Fernandez lopez University Foundation san Pablo CEU Spain

The aim of this work is to provide a formulation of two related nonlinear diffusive convective models in the form of coupled reaction-absorption ***,the postulated models are studied with an analytical *** on,numerical evidences are considered to account for a precise *** problem(P)analyzed is of the form:ut=δΔu+c⋅∇u+v^(n),vt=ϵΔv+c⋅∇v−um,n,m∈(0,1),u_(0)(x),v_(0)(x)>0∈L^(1)_(loc)(RN)∩L^(∞)(R^(N)).(0.1)Afterwards,a related problem P_(T)is studied:ut=δΔu+c⋅∇u−v^(n)(u−d),vt=ϵΔv+c⋅∇v−u^(m)v,n,m∈(0,1),u_(0)(x),v_(0)(x)>0∈L^(1)_(loc)(R^(N))∩L^(∞)(R^(N)).(0.2)The principal aspects for analysis are related to the existence and the derivation of particular solutions to reproduce the dynamic of the interacting *** the problem PT,we make use of the TW approach to study existence of solutions and precise evolution of *** that the term predator is used to refer to an invasive behavior,while the term prey is used for the invaded species.

关键词： Nonlinearity reaction absorption coupled system diffusion,traveling waves

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Nestling sex ratio is unaffected by individual and population traits in the griffon vulture

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Current Zoology 2023年第3期69卷 227-235页

作者： Guillermo gomez-lopez Felix martinez Ana sanz-Aguilar martina carrete Guillermo Blanco Department of Evolutionary Ecology National Museum of Natural Sciences(MNCN)Spanish National Research Council(CSiC)Jose Gutierrez Abascal 228006 MadridSpain Escuela Internacional de Doctorado Universidad Rey Juan Carlos(URJC)Tulipan s/n28933 MostolesMadridSpain Animal Demography and Ecology Group Institut Mediterrani d'Estudis Avangats(IMEDEA)Miquel Marques 217020 EsporlesMallorcaSpain Applied Zoology and Conservation Group Universitat de les Illes Balears(UIB)Ctra.De Valldemossa km.7.507122PalmaSpain Department of Physical Chemical and Natural SystemsUniversidad Pablo de Olavide(UPO)Ctra.de Utrera km.141013 SevillaSpain

Variation in offspring sex ratios is a central topic in animal demography and population *** studies have focused on bird species with marked sexual dimorphism and multiple-nestling broods,where the offspring sex ratio is often biased due to different individual or environmental ***,biases in offspring sex ratios have been far less investigated in monomorphic and single-egg laying species,and few studies have evaluated long-term and large-scale variations in the sex ratio of nestling ***,we explore individual and environmental factors potentially affecting the secondary sex ratio of the monomorphic griffon vulture Gyps *** used information collected at three breeding nuclei from central Spain over a 30-year period(1990–2020)to analyse the effects of nestling age,parental age,breeding phenology,conspecific density,population reproductive parameters,and spatial and temporal variability on nestling *** ratio did not differ from parity either at the population or the nuclei *** significant between-year differences were detected,even under highly changing conditions of food availability associated with the mad-cow *** found that tree nesting breeders tend to have more sons than daughters,but as this nesting behavior is rare and we consequently have a small sample size,this issue would require additional *** further research is needed to assess the potential effect of breeder identity on nestling sex ratio,this study contributes to understanding the basic ecology and population dynamics of Griffon Vultures,a long-lived species with deferred maturity and low fecundity,whose minor deviations in the offspring sex ratio might imply major changes at the population level.

关键词： offspring sex ratio nestling sex Gyps fulvus monomorphism mad-cow crisis demography

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