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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)***,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

Impact of STAT-signaling pathway on cancer-associated fibroblasts in colorectal cancer and its role in immunosuppression

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World Journal of Gastrointestinal Oncology 2024年第5期16卷 1705-1724页

作者： Damián Sánchez-Ramírez Mónica G Mendoza-Rodríguez Omar R Alemán Fernando A Candanedo-González Miriam Rodríguez-Sosa Juan JoséMontesinos-Montesinos Mauricio Salcedo Ismael Brito-Toledo Felipe Vaca-Paniagua Luis I Terrazas Unidad de investigacion en Biomedicina Facultad de Estudios Superiores IztacalaUniversidad Nacional Autonoma de MexicoTlalnepantla 54090Estado de MexicoMexico department of Biology Facultad de QuimicaUniversidad Nacional Autonoma de MexicoCiudad UniversitariaMexico City 04510Mexico department of Pathology National Medical Center Century XXIInstituto Mexicano del Seguro SocialMexico City 06720Mexico Laboratorio de Células Troncales Mesenquimales Unidad de Investigación Médica en Enfermedades OncológicasHospital de Oncología Centro Medico Nacional Siglo XXIInstituto Mexicano del Seguro SocialMexico City 06720Mexico Unidad de investigacion en Biomedicina y Oncologia Genomica Instituto Mexciano del Seguro SocialMexico City 07300Mexico Servicio de Colon y Recto Hospital de Oncología Centro Medico Nacional Siglo XXIInstituto Mexicano del Seguro SocialMexico City 06720Mexico Laboratorio Nacional en Salud Facultad de Estudios Superiores IztacalaUniversidad Nacional Autónoma de MéxicoTlalnepantla 54090Estado de MexicoMexico

Colorectal cancer(CRC)remains one of the most commonly diagnosed and deadliest types of cancer *** displays a desmoplastic reaction(DR)that has been inversely associated with poor prognosis;less DR is associated with a better *** reaction generates excessive connective tissue,in which cancer-associated fibroblasts(CAFs)are critical cells that form a part of the tumor *** are directly involved in tumorigenesis through different ***,their role in immunosuppression in CRC is not well understood,and the precise role of signal transducers and activators of transcription(STATs)in mediating CAF activity in CRC remains *** the myriad chemical and biological factors that affect CAFs,different cytokines mediate their function by activating STAT signaling ***,the harmful effects of CAFs in favoring tumor growth and invasion may be modulated using STAT ***,we analyze the impact of different STATs on CAF activity and their immunoregulatory role.

关键词： Cancer-associated fibroblasts Signal transducer and activator of transcription signaling Colorectal cancer Immunity Immunosuppression

Exploring the size of Andean condor foraging groups along an altitudinal and latitudinal gradient in the Tropical Andes: Ecological and conservation implications

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Current Zoology 2024年第2期70卷 225-232页

作者： Diego Mendez Felix Hernan Vargas JoséHernan Sarasola Pedro P.Oleaa departamento de Ecologia Universidad Autonoma de MadridCalle Darwin 228049MadridSpain Museo Nacional de Historia Natural Calle 26 s/nCota CotaLa PazBolivia The Peregrine Fund 5668 West Flying Hawk LaneBoiseID 83709USA centro para el Estudio y Conservacion de Aves Rapaces en Argentina(CECARA) Universidad Nacional de La PampaAvda Uruguay 1516300 Santa RosaLa PampaArgentina Instituto de las Ciencias Ambientales y de la Tierra de La Pampa(INCITAP-CONICET) Avda.Uruguay 1516300 Santa RosaLa PampaArgentina centro de investigacion en Biodiversidad y Cambio Global(CIBC-UAM) Universidad Autonoma de MadridMadridCalle Darwin 228049Madrid Snain

Patterns of variation in the size of vulture foraging groups,and their ecological causes and consequences,remain litle explored despite strong links with the carrion recycling service that this key functional group *** documented the group size-frequency pattern of Andean con-dors Vultur gryphus gathered to feed on 42 equine carcasses experimentally placed in Bolivia,between 2012 and 2019,along an elevation range of 1,300-4,500 m *** on the location(altitude and latitude)of the foraging groups,we examined the relationship between their size and species'population parameters(size and trend),habitat conditions,and livestock carcass availability and *** utilized a high frequency(93%)of carcasses forming groups that ranged from 1 to 80 individuals(mean=25,median=18)and shaped a"lazy-J curve"typical pattern of size-frequency distribution whereby few groups(5,12%)were large(>55 individuals)and most(21,50%)were relatively small(de in that most larger groups formed at lower sites(below c.3,000 m asl),likely following an altitudinal gradient whereby larger groups are more likely to form around larger carcasses(i.e.,cattle),which are more likely to occur at lower *** of population size,group size could be an adaptive response of condors via local enhancement for improving individual scavenging *** information gaps on this topic still exist,thus we provide a set of questions to address them,especially amidst the unrestricted impacts of human activities that condition vulture survival globally.

关键词： condor andino fusion-fission dynamics group size scavenger social foraging vultures.

design of a Novel Exoskeleton with Passive Magnetic Spring Self-locking and Spine Lateral Balancing

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Journal of Bionic engineering 2024年第1期21卷 236-255页

作者： Jhon F.Rodríguez-León Betsy D.M.Chaparro-Rico Daniele Cafolla Francesco Lago Eduardo Castillo-Castañeda Giuseppe Carbone centro de investigacion en Ciencia Aplicada y Tecnologia Avanzada Unidad Querétaro MecatronicaInstituto Politécnico NacionalCerro Blanco 14176090 Colinas del CimatarioQuerétaroMexico department of Mechanical Energy and Management EngineeringUniversity of CalabriaVia P.Bucci Cubo 46 C87036 RendeItaly Faculty of Science and engineering Department of Computer ScienceSwansea UniversitySwanseaUK CESTER University of Cluj-NapocaCluj-NapocaRomania

This paper proposes a new upper-limb exoskeleton to reduce worker physical *** proposed design is based on a novel PRRRP(P-Prismatic;R-Revolute)kinematic chain with 5 passive degrees of Freedom(DoF).Utilizing a magnetic spring,the proposed mechanism includes a specially designed locking mechanism that maintains any desired task *** proposed exoskeleton incorporates a balancing mechanism to alleviate discomfort and spinal torsional effects also helping in limb weight *** paper reports specific models and simulations to demonstrate the feasibility and effectiveness of the proposed *** experimental characterization is performed to validate the performance of the mechanism in terms of forces and physical strain during a specific application consisting of ceiling-surface drilling *** obtained results preliminarily validate the engineering feasibility and effectiveness of the proposed exoskeleton in the intended operation task thereby requiring the user to exert significantly less force than when not wearing it.

关键词： Assistive mechanism Exoskeleton Locking mechanism Bionic robot

Insight into endoplasmic reticulum-mitochondria contacts in human amyotrophic lateral sclerosis

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Neural Regeneration Research 2024年第7期19卷 1407-1408页

作者： Naomi Hartopp Andrea Markovinovic Christopher CJ Miller Patricia Gomez-Suaga Sheffield Institute for Translational Neuroscience University of SheffieldSheffieldUK department of Basic and Clinical Neuroscience Institute of PsychiatryPsychology and NeuroscienceLondonUK Universidad de Extremadura.departamento de Bioquímica y Biología Molecular y Genética Facultad de Enfermería y Terapia OcupacionalCáceresSpain centro de Investigación Biomédica en Red en enfermedades Neurodegenerativas-Instituto de Salud Carlos Ⅲ(CIBER-CIBERNED-ISCⅢ) MadridSpain Instituto Universitario de Investigación Biosanitaria de Extremadura(INUBE) CáceresSpain

Amyotrophic lateral sclerosis(ALS) is a fastprogressing fatal neurodegenerative disease and the most common form of motor neuron *** is currently no cure and approximately 90% of cases are *** shares genetic causes,clinical and neuropathological features with frontotemporal dementia,the second most common form of presenile *** and frontotemporal dementia are therefore considered a disease spectrum(Abramzon et al.,2020).

关键词： senile sclerosis

Insights into the origin of precipitation moisture for tropical cyclones during rapid intensification process

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Tropical Cyclone Research and Review 2024年第2期13卷 72-87页

作者： Albenis Perez-Alarcon Jose C.Fernandez-Alvarez Ricardo M.Trigo Raquel Nieto Luis Gimeno centro de investigacion Mari~na Universidade de VigoEnvironmental Physics Laboratory(EPhysLab)Campus As Lagoas s/nOurenseSpain departamento de Meteorología Instituto Superior de Tecnologías y Ciencias AplicadasUniversidad de La HabanaLa HabanaCuba Instituto Dom Luiz(IDL) Facultade de Ci^enciasUniversidade de LisboaLisboaPortugal departamento de Meteorologia Universidade Federal do Rio de JaneiroRio de JaneiroBrazil

In this study,we identiﬁed the moisture sources for the precipitation associated with tropical cyclones(TCs)during the rapid intensiﬁcation(RI)process from 1980 to 2018 by applying a Lagrangian moisture source diagnostic *** detected sixteen regions on a global scale for RI events distributed as follows:four in the North Atlantic(NATL),two in the Central and East Paciﬁc Ocean(NEPAC),the North Indian Ocean(NIO)and South Indian Ocean(SIO),and three in the South Paciﬁc Ocean(SPO)and the Western North Paciﬁc Ocean(WNP).The moisture uptake(MU)mostly was from the regions where TCs underwent *** Western NATL,tropical NATL,Caribbean Sea,the Gulf of Mexico and the Central America and Mexico landmass supported~85.4%of the precipitating moisture in the NATL,while the latter source and the eastern North Paciﬁc Ocean provided the higher amount of moisture in NEPAC(~84.3%).The Arabian Sea,the Bay of Bengal and the Indian Peninsula were the major moisture sources in NIO,contributing approximately 81.3%.The eastern and western parts of the Indian Ocean supplied most of the atmospheric humidity in SIO(~83.8%).The combined contributions(~87.9%)from the western and central SPO and the Coral Sea were notably higher in ***,TCs in the WNP basin mostly received moisture from the western North Paciﬁc Ocean,the Philippine Sea and the China Sea,accounting for 80.1%.The remaining moisture support in each basin came from the summed contributions of the remote ***,RI TCs gained more moisture up to 2500 km from the cyclone centre than those slow intensiﬁcation(SI)and the total MU was approximately three times higher during RI than ***,the patterns of the MU differences respond to the typical pathways of moisture transport in each basin.

关键词： Tropical cyclones Rapid intensiﬁcation Moisture sources Precipitation Lagrangian moisture tracking

Spatiotemporal oxygen dynamics in young leaves reveal cyclic hypoxia in plants

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Molecular Plant 2024年第3期17卷 377-394页

作者： Paolo M.Triozzi Luca Brunello Giacomo Novi Gianmarco Ferri Francesco Cardarelli Elena Loreti Mariano Perales Pierdomenico Perata PlantLab Center of Plant SciencesSant'Anna School of Advanced Studies56010 PisaItaly centro de Biotecnologia y Genomica de Plantas Universidad Politecnica de Madrid(UPM)-Instituto Nacional de Investigacion y Tecnologia Agraria y Alimentaria(INIA-CSIC)Campus de Montegancedo UPMPozuelo de Alarcon28223 MadridSpain Fondazione Pisana per la Scienza 56017 PisaItaly Laboratorio NEST Scuola Normale SuperioreIstituto Nanoscienze-CNRPiazza S.Silvestro1256127 PisaItaly institute of Agricultural Biology and Biotechnology National Research Council56124 PisaItaly departamento de Biotecnologia-Biologia Vegetal Escuela Tecnica Superior de Ingenieria AgronomicaAlimentaria y de BiosistemasUniversidad Politecnica de Madrid(UPM)28040 Madrid.Spain

Oxygen is essential for plant growth and *** occurs in plants due to limited oxygen avail-abilityfollowing adverse environmental conditions as well inhypoxic niches in otherwisenormoxic ***,the existence and functional integration of spatiotemporal oxygen dynamics with plant development remains *** animal systems dynamic fluctuations in oxygen availability are known as cyclic *** this study,we demonstrate that cyclic fluctuations in internal oxygen levels occur in young emerging leaves of Arabidopsis *** hypoxia in plants is based on a mechanism requiring the ETHYLenE RESPONSE FACTORS type VII(ERFVII)that are central components of the oxygen-sensing machinery in *** ERFVll-dependent mechanism allows precise adjustment of leaf growth in response to carbon status and oxygen availability within plant *** study thus establishes a functional connection between internal spatiotemporal oxygen dynamics and developmental processes of plants.

关键词： Arabidopsis hypoxia cyclic hypoxia leaf development oxygen-sensing mechanism ERFVII

Geochemistry and mineralogy of beach sediments in the northern Gulf of Mexico,Tamaulipas state,Mexico:implication for provenance

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Journal of Palaeogeography 2024年第3期13卷 375-400页

作者： Mayank Shukla Sanjeet K.Verma Mayla A.Ramos-Vázquez John S.Armstrong-Altrin Karla R.Hernández-Martínez Sumit Mishra Vivek P.Malviya Héctor Hernández-Mendoza Posgrado de la Division de Geociencias Aplicadas Instituto Potosino de Investigacion Científica y Tecnologica(IPICYT)Camino a la Presa San José2055San Luis Potosí78216Mexico Division de Geociencias Aplicadas Instituto Potosino de Investigación Científica y Tecnologica(IPICYT)Camino a la Presa San Jose 2055San Luis Potosí78216Mexico Universidad Nacional Autonoma de México Instituto de Ciencias del Mar y LimnologíaUnidad de ProcesosOceanicos y CosterosCiudad UniversitariaCiudad de México 04510Mexico department of Marine Sciences Bharathidasan UniversityTiruchirappalli620024Tamil NaduIndia Instituto de Geociencias Universidad Nacional Autonoma de MéxicoBoulevard Juriquilla 300176230JuriquillaQueretaroMexico department of Applied Geology Dr.Harisingh Gour Central UniversitySagar470002Madhya PradeshIndia Instituto de investigacion de Zonas desérticas Universidad Autònoma de San Luis PotosíAltair 200CP 78377San LuisS.L.P.Mexico Universidad del centro de Mexico Capitán Caldera 75CP 78250San LuisS.L.P.Mexico

Geochemical and mineralogical studies were performed in the La Pesca(LP)and Tesoro Altamira(TA)beach sediments,located in the Tamaulipas state,northern Gulf of *** main aim of this study is to infer the weathering history and provenance and to discriminate the tectonic environment of the beach *** sediments are composed of quartz with small amounts of accessory minerals such as plagioclase,calcite,orthoclase,microcline,and *** beach sediments are classified as fine-grained and very well sorted,however LP has coarse skewed and leptokurtic sediments,whereas TA has fine-skewed and very leptokurtic *** chemical index of weathering(CIW’)indicates intense weathering in the source *** quartz grain microtextures in the LP and TA are classified into mechanical,chemical,and mechanical/chemical *** features such as fractures,pits,percussion marks,abrasion fatigue,and V-shaped marks favor high-energy littoral,fluvial,subaqueous-marine,and aeolian *** chemical features indicate solution pits and crystalline overgrowth,which suggests a silica saturated marine *** mechanical/chemical features display adhering particles and elongated depressions suggest formation in a sub-aqueous nearshore marine *** and trace elements-based provenance discrimination diagrams indicate a felsic source derived from the Mesa Central(MC),Sierra Madre Oriental(SMOr)and Oaxaquia *** major and trace element concentrations imply a passive margin setting for the northern Gulf of Mexico,which is consistent with the general geology.

关键词： Beach sediments Geochemistry Mineralogy Provenance Tamaulipas Tectonic setting

Lack of evidence for germline WWP1 pathogenic variants in gastrointestinal polyposis and other phenotypes suggestive of PTen-hamartoma-tumor syndrome

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Genes & Diseases 2024年第2期11卷 524-527页

作者： Noemi Gonzalez-Abuin Tirso Pons Teresa Fuster Isabel Quintana Mariona Terradas Gemma Aiza Joan Brunet Gabriel Capellá Heather Hampel Laura Valle Hereditary Cancer Program Catalan Institute of OncologyOncobell ProgramIDIBELLHospitalet de LlobregatBarcelona 08908Spain department of Immunology and Oncology National Center for BiotechnologySpanish National Research Council (CNB-CSIC)Madrid 28049Spain centro de Investigación Biomédica en Red de Cáncer (CIBERONC) Madrid 28029Spain Catalan Institute of Oncology IDIBGiGirona 17007Spain Division of Clinical Cancer Genomics Department of Medical Oncology & Therapeutic ResearchCity of Hope National Cancer CenterDuarteCA 91010USA

Germline activating variants in WWP1,which encodes an E3 ubiquitin ligase that antagonizes PTen tumor suppressive function,have been proposed as an alternative mechanism of PTen inactivation in PTen-hamartoma-tumor syndrome(PHTS)-like patients with wildtype PTen.1 More specifically,heterozygous,potentially activating wwP1 variants were first identified by Lee et al in patients affected with gastrointestinal oligopolyposis,including adenomatous,hyperplastic/serrated,and hamartomatous polyps,and occasionally with colorectal cancer(Table 1).Subsequently,based on the PHTS phenotypic features,wWP1 mutational screening was performed in patients with thyroid nodules,2 or normocephalic autism spectrum disorder(ASD),3 where germline WWP1 variants were also identified(Table S1).

关键词： WWP1 gastrointestinal polyposis