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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

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Pitfalls of barcodes in the study of worldwide SARSCoV-2 variation and phylodynamics

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Zoological Research 2021年第1期42卷 87-93页

作者： Jacobo Pardo-Seco alberto gómez-carballa Xabier Bello Federico Martinón-Torres Antonio Salas Unidade de Xenética Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigación Sanitaria(IDIS)Hospital Clínico Universitario de Santiago(SERGAS)Galicia 15706Spain genetics Vaccines and Pediatric Infectious Diseases Research Group(GENVIP)Instituto de Investigación Sanitaria de Santiago(IDIS)and Universidad de Santiago de Compostela(USC)Galicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clínico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain

DEAR EDITOR,Analysis of SARS-CoV-2 genome variation using a minimal number of selected informative sites conforming a genetic barcode presents several *** show that purely mathematical procedures for site selection should be supervised by known phylogeny(i)to ensure that solid tree branches are represented instead of mutational hotspots with poor phylogeographic proprieties,and(ii)to avoid phylogenetic *** propose a procedure that prevents information redundancy in site selection by considering the cumulative informativeness of previously selected sites(as a proxy for phylogenetic-based criteria).This procedure demonstrates that,for short barcodes(e.g.,11 sites),there are thousands of informative site combinations that improve previous *** also show that barcodes based on worldwide databases inevitably prioritize variants located at the basal nodes of the phylogeny,such that most representative genomes in these ancestral nodes are no longer in ***,coronavirus phylodynamics cannot be properly captured by universal genomic barcodes because most SARS-CoV-2 variation is generated in geographically restricted areas by the continuous introduction of domestic variants.

关键词： dynamics properly purely

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Biogeographical informativeness of Y-STR haplotypes

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Science Bulletin 2019年第19期64卷 1381-1384页

作者： Jacobo Pardo-Seco alberto gómez-carballa Xabier Bello Federico Martinón-Torres Antonio Salas Unidade de Xenética Instituto de Ciencias Forenses(INCIFOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstitutode Investigaciones Sanitarias(IDIS)Hospital Clínico Universitario de Santiago(SERGAS)GaliciaSpain grupo de Investigación en genética VacunasInfecciones y Pediatría(GENVIP)Universidade de Santiago de Compostelaand Hospital Clínico Universitario de Santiago(SERGAS)GaliciaSpain

Research on biogeographical ancestry(BgA)is becoming of growing interest in forensic genetics and in the biomedical literature(1)Thus,for instance,the need to predict ethnicity of an unknown suspect based on DNA profiles found at the crime scene is of maximum interest in criminalistics[2],and several autosomal SNP panels have been designed and tested for BgA investigations[3,4].Most of these panels aim at discriminating three main continental groups(sub-Saharan Africans,Europeans,and Asians)by way of testing a number of ancestry informative markers(AIMs)that run from a few dozens to a few hundred[5](see more background in Supplementary data online).

关键词： BgA STR Biogeographical informativeness of Y-STR haplotypes

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Phylogeography of SARS-CoV-2 pandemic in Spain:a story of multiple introductions,micro-geographic stratification,founder effects,and super-spreaders

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Zoological Research 2020年第6期41卷 605-620页

作者： alberto gomez-carballa Xabier Bello Jacobo Pardo-Seco Maria Luisa Perez del Molino Federico Martinon-Torres Antonio Salas Unidade de Xendtica Instituto de Ciencias Forenses(I NCI FOR)Facultade de MedicinaUniversidade de Santiago de Compostelaand GenPoB Research GroupInstituto de Investigaci6n Sanitaria(IDIS)Hospital Clinico Universitario de Santiago(SERGAS)Galicia 15706Spain genetics Vaccines and Pediatric Infectious Diseases Research Group(GENVIP)Instituto de Investigacion Sanitaria de Santiago(IDIS)and Universidade de Santiago de Compostela(USC)Galicia 15706Spain Translational Pediatrics and Infectious Diseases Department of PediatricsHospital Clinico Universitario de Santiago de Compostela(SERGAS)Galicia 15706Spain Servicio de Microbiologia y Parasitologia Complejo Hospitalario Universitario de Santiago de CompostelaSantiago de CompostelaGalicia15706 Spain

Spain has been one of the main global pandemic epicenters for coronavirus disease 2019(COVID-19).Here,we analyzed>41000 genomes(including>26000 high-quality(HQ)genomes)downloaded from the gISAID repository,including 1245(922 HQ)sampled in *** aim of this study was to investigate genome variation of novel severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)and reconstruct phylogeographic and transmission patterns in *** analysis suggested at least 34 independent introductions of SARS-CoV-2 to Spain at the beginning of the *** lineages spread very successfully in the country,probably favored by super-spreaders,namely,A2 a4(7.8%),A2 a5(38.4%),A2 a10(2.8%),B3 a(30.1%),and B9(8.7%),which accounted for 87.9% of all genomes in the Spanish *** distinct feature of the Spanish SARS-Cov-2 genomes was the higher frequency of B lineages(39.3%,mainly B3 a+B9)than found in any other European *** B3 a,B9,(and an important sub-lineage of A2 a5,namely,A2 a5 c)most likely originated in Spain,the other three haplogroups were imported from other European *** B3 a strain may have originated in the Basque Country from a B3 ancestor of uncertain geographic origin,whereas B9 likely emerged in *** time of the most recent common ancestor(TMRCA)of SARS-CoV-2 suggested that the first coronavirus entered the country around 11 February 2020,as estimated from the TMRCA of B3 a,the first lineage detected in the ***,earlier claims that the D614 g mutation is associated to higher transmissibility is not consistent with the very high prevalence of COVID-19 in Spain when compared to other countries with lower disease incidence but much higher frequency of this mutation(56.4% in Spain vs.82.4% in rest of Europe).Instead,the data support a major role of genetic drift in modeling the micro-geographic stratification of virus strains across the country as well as the role of SARS-CoV-2 super-spreaders.

关键词： Covid-19 SARS-CoV-2 genomics Phylogeny Phylogeography

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A review of recent advances of kesterite thin films based on magnesium,iron and nickel for photovoltaic application:insights into synthesis,characterization and optoelectronic properties

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Clean Energy 2024年第2期8卷 217-238页

作者： Nelson Mauricio Espinel Pérez Enrique Vera López Jairo alberto gómez Cuaspud Juan Bautista Carda Castelló grupo de Investigación en Integridad y Evaluación de Materiales(gIEM).Instituto para la Investigación e Innovación en Ciencia y Tecnología de Materiales(INCITEMA).Universidad Pedagógica y Tecnológica de Colombia Av.Central del Norte 39-115.Tunja-BoyacáColombia Servicio Nacional de Aprendizaje(Sena).Centro Minero.Vereda MorcáSector Batá.Sogamoso-Boyacá Colombia Universidad Jaume I.grupo de Química Inorgánica y Orgánica.Castellón de la Plana Campus del Riu Sec.Castellón de la PlanaEspaña

This review emphasizes the recent advancements and prospects of thin-film kesterite-based photovoltaic(PV)applications using magnesium,iron and *** quest for novel materials employed in solar cells has resulted in incorporating these elements into the composition of kesterite as substitutes or modifiers(dopants)for *** integration has induced notable repercussions on the structural,optoelectronics and morphological properties,which are *** first section of this paper offers a comprehensive review of the general characteristics of kesterite *** crucial materials exhibit a high absorption coefficient(104 cm-1)and an optical band gap of 1.0-1.8 ***,they are free of critical raw materials,non-toxic and *** second section depicts the substitution or modification of zinc by magnesium in ***,this paper provides a comprehensive review of the quaternary and pentanary systems Cu_(2)MgSn(S,Se)_(4) and Cu_(2)Zn_(1-x)Mg_(x)SnS_(4),highlighting their advantages and *** the last section,a review of the quaternary or pentanary systems is conducted,namely Cu_(2)ZnxFe_(1-x)SnS_(4) and Cu_(2)ZnxNi_(1-x)SnS_(4),along with their effects on optoelectronic *** conclusion,various methods for obtaining modified or substituted kesterite materials using magnesium,iron and nickel have demonstrated sustainability,scalability for industrial production and potential candidacy as substitutes for conventional PV *** prospects for pentanary materials(Cu_(2)Zn_(1-x)Mg_(x)SnS_(4),Cu_(2)Zn_(1-x)FexSnS_(4) and Cu_(2)Zn_(1-x)NixSnS_(4))are to overcome the efficiency record of kesterite reported in 2014,which was 12.6%for Cu_(2)ZnSn(S,Se)_(4),and to enhance its optoelectronic properties through synthesis conditions that comply with the principles of green chemistry.

关键词： kesterite thin film magnesium iron nickel substitutes or modifiers novel materials sustainability

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Targeting epidermal growth factor receptor signaling to facilitate cortical injury repair?

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Neural Regeneration Research 2024年第5期19卷 935-936页

作者： Ricardo gómez-Oliva Pedro Nunez-Abades Carmen Castro Área de Fisiología Facultad de Medicina Universidad de CádizCadizSpain Instituto de Investigación e Innovación en Biomedicina de Cádiz CadizSpain Departamento de Fisiología Facultad de FarmaciaUniversidad de SevillaSevilleSpain

The existence of neural stem cells(NSC)in specific areas of the adult mammalian brain leads to the generation of new neurons involved in homeostatic *** is the case of the NSC of the subventricular zone(SVZ)that produces olfactory bulb(OB)*** neurons integrate into circuits to modulate sensory information and participate in olfactory processing(Bragado Alonso et al.,2019).A series of hierarchical events need to take place to produce OB neurons from NSC of the ***,the activation of quiescent NSC is necessary to produce intermediate transit amplifying progenitors(TAP),which will generate *** latter are cells that maintain a proliferative phenotype while in an immature ***,once they initiate migration toward the OB,they progressively undergo their differentiation into neurons(Kjell et al.,2020).

关键词： ventricular maintain

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High CO_(2)permeation using a new Ce_(0.85)gd_(0.15)O_(2-δ)-LaNiO_(3)composite ceramic–carbonate dual-phase membrane

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Journal of Environmental Sciences 2024年第6期140卷 219-229页

作者： Daniela gonzález-Varela JFrancisco gómez-garcía gustavo Tavizon Heriberto Pfeiffer Instituto de Investigaciones en Materiales Universidad Nacional Autónoma de MéxicoCd.UniversitariaDel.CoyoacánCP 04510Ciudad de MéxicoMéxico Departamento de Física y Química Teórica Facultad de QuímicaUniversidad Nacional Autónoma de MéxicoCd.UniversitariaDel.CoyoacánCP 04510Ciudad de MéxicoMéxico 不详

This work shows the synthesis,characterization and evaluation of dense-ceramic membranes made of Ce_(0.85)gd_(0.15)O_(2-δ)-LaNiO_(3)(Cg-LN)composites,where the fluorite-perovskite ratio(Cg:LN)was varied as follows:75:25,80:20 and 85:15 wt.%.Supports were initially characterized by XRD,SEM and electrical conductivity(using vacuum and oxygen atmospheres),to determine the composition,microstructural and ionic-electronic conductivity ***,supports were infiltrated with an eutectic carbonates mixture,producing the corresponding dense dual-phase membranes,in which CO_(2)permeation tests were ***,CO_(2)permeation experiments were performed from 900 to 700℃,in the presence and absence of oxygen(flowed in the sweep membrane side).Results showed that these composites possess high CO_(2)permeation properties,where the O_(2)addition significantly improves the ionic conduction on the sweep membrane ***,the gC80-LN20 composition presented the best results due to the following physicochemical characteristics:high electronic and ionic conductivity,appropriate porosity,interconnected porous channels,as well as thermal and chemical stabilities between the composite support and carbonate phases.

关键词： CO_(2)permeation Doped CeO_(2) LaNiO_(3) Impedance Ceramic carbonate membrane

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Anthropogenic mineral generation and its potential resource supply:The case of niobium

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Science China Earth Sciences 2024年第8期67卷 2583-2591页

作者： Xianlai ZENg Moisés gómez Mahmoud BAKRY Yong gENg Jinhui LI School of Environment Tsinghua UniversityBeijing 100084China School of Environmental Science and Engineering Shanghai Jiao Tong UniversityShanghai 200240China School of International and Public Affairs Shanghai Jiao Tong UniversityShanghai 200030China

The strategy of carbon neutrality is reshaping the global landscape of resource flow and *** the final sink of geological minerals,the proliferated anthropogenic minerals,also called secondary resources,play an increasingly important role in resource supply *** is a critical metal that lacks full concern for its *** fundamental principle of niobium circularity is to recycle and maintain the material as close to the manufacturing process as *** we estimate the niobium-containing applications lost at their end-of-life,underscoring the imperative to minimize such ***,we elucidate the extraction processes for scrap and alloy quantities throughout the industry's *** from anticipated waste generated by the majority of niobium applications,a forecast indicates a potential loss of approximately 168 kt by 2090 in the absence of ***,with a recycling efficiency of 90%for niobium,the projected loss diminishes to approximately 16 *** delve into the significance of niobium's circular economy and explore various aspects that demand further investigation for a seamless transition from linear to circular practices.

关键词： Niobium Anthropogenic mineral Circular economy Recycling Sustainability

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Estimation of Equivalent Model of Photovoltaic Array Using Unscented Kalman Filters

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Journal of Modern Power Systems and Clean Energy 2024年第3期12卷 819-827页

作者： M.A.gonzález-Cagigal JoséA.Rosendo-Macías A.gómez-Expósito the Department of Electrical Engineering University of SevilleSpainand A.Gómez-Expósito is also with ENGREEN Laboratory of Engineering for Energy and Environmental SustainabilitySevilleSpain

This paper proposes the use of the unscented Kalman filter to estimate the equivalent model of a photovoltaic(PV)array,using external measurements of current and voltage at the inverter *** estimated model is of interest to predict the power output of PV plants,in both planning and operation scenarios,and thus improves the efficient operation of power systems with high penetration of renewable *** proposed technique has been assessed in several simulated scenarios under different operating *** results show that accurate estimates are provided for the model parameters,even in the presence of measurement noise and abrupt variations under the external conditions.

关键词： Equivalent model parameter estimation photovoltaic energy unscented Kalman filter

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Microsurgical management of radicular cyst using guided tissue regeneration technique:A case report

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World Journal of Clinical Cases 2024年第7期12卷 1346-1355页

作者： Juan Carlos gómez Mireles Eugenia Karina Martínez Carrillo Katia Alcalá Barbosa Evangelina gutiérrez Cortés Javier gonzález Ramos Luis Antonio gonzález gómez Rubén alberto Bayardo gonzález Sarah Monserrat Lomelí Martínez Periodontics Specialty Department of Integral Dentistry ClinicsCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340Mexico Endodontics Specialty Department of Integral Dentistry ClinicsCentro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340Mexico Endodontics Specialty Department of ClinicsCentro Universitario de Los AltosUniversidad de GuadalajaraTepatitlán de Morelos 47620Mexico Specialty in Oral Pathology Surgical-Stomatological DepartmentAutonomous University of GuadalajaraZapopan 45129Mexico Independent Researcher Guadalajara 44340Mexico Department of Integral Dentistry Clinics Centro Universitario de Ciencias de la SaludUniversidad de GuadalajaraGuadalajara 44340Mexico Department of Medical and Life Sciences Centro Universitario de la CiénegaUniversidad de GuadalajaraOcotlán 47810Mexico Master of Public Health Department of Well-being and Sustainable DevelopmentCentro Universitario del NorteUniversidad de GuadalajaraColotlán 46200Mexico

BACKgROUND Radicular cyst is a lesion of odontogenic origin that arises from epithelial remains due to periapical periodontitis caused by inflammatory reactions generated at the apex of affected teeth with infected or necrotic *** therapeutic mana gement of radicular cysts is *** is only one case report of enucleation of a radicular cyst managed with microsurgery and apicoectomy,but without the use of the guided tissue regeneration(gTR)technique in the same surgical *** present clinical case describes the management of a radicular cyst with microsurgical approach,performance of an apicoectomy of the tooth associated with the entity,application of gTR technique,use of a resorbable membrane of type I bovine collagen,and bovine *** SUMMARY A 68-year-old patient presented with a radicular cyst from an upper lateral *** microsurgical management used was aimed at enucleating the chemical membrane,performing apicoectomy of the tooth along with careful and precise retrograde filling,and implementing gTR technique using a resorbable collagen membrane and bovine *** diagnosis of radicular cyst was confirmed using histopathological *** patient underwent follow-up evaluations at 10 and 30 d *** 4 months postoperative evaluation,she remained asymptomatic,and radiographs showed significant periapical healing with adequate bone *** These results suggest that microsurgical management using the gTR technique with collagen membrane and xenograft,contributes to bone regeneration.

关键词： Odontogenic cysts Apical periodontal cyst Dental root end cyst Case report

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