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The Iberian Roma Population Variant Server(IRPVS)

Journal of Genetics and Genomics 2024年第7期51卷 769-773页

作者： Fabiola mavillard Javier Perez-Florido Francisco m.Ortuño Amador Valladares miren L.Álvarez-Villegas Gema Roldán Rosario Carmona manuel Soriano Santiago Susarte Pilar Fuentes Daniel López-López Ana maría nuñez-Negrillo Alejandra Carvajal Yolanda morgado Daniel Arteaga Rosa Ufano Pablo mir Juan F.Gamella Joaquín Dopazo Carmen Paradas macarena Cabrera-Serrano Instituto de Biomedicina de Sevilla(IBiS) Hospital Universitario Virgen del Rocío/CSIC/Universidad de SevillaSevillaSpain Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas(CIBERNED) Instituto de Salud CarlosⅢSevillaSpain Plataforma Andaluza de medicina Computacional Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevillaSpain Grupo de medicina computacional de sistemas Instituto de Biomedicina de Sevilla(IBiS)Hospital Virgen del RocíoSevillaSpain Nodo de Genómica Funcional (INB-ELIXIR-es)Fundación Progreso y Salud(FPS)Hospital Virgen del RocíoSevilla 41013Spain Bioinformática en Enfermedades raras(BiER) Centro de Investigación Biomédica en Red de Enfermedades Raras(CIBERER)Instituto de salud CarlosⅢSevillaSpain Departamento de Ingeniería de Computadores Automática y RobóticaUniversidad de GranadaGranadaSpain Servicio de Urgencias de Atención Primaria Distrito SevillaSevillaSpain Centro de Servicios Sociales Negociado de Servicios EspecializadosAyuntamiento de SevillaSevillaSpain Departamento de Enfermería Facultad de Ciencias de la SaludUniversidad de GranadaGranadaSpain Departamento de Neurología Hospital Virgen de las NievesGranadaSpain Departamento de Neurología Hospital Virgen de ValmeSevillaSpain Centro de Salud Utrera Sur SevillaSpain Centro de Salud Polígono Sur SevillaSpain Unidad de Trastornos del movimiento Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain Departamento de medicina Facultad de MedicinaUniversidad de SevillaSevilleSpain Departamento de Antropología Social Universidad de GranadaSpain Unidad Enfermedades Neuromusculares Servicio de Neurología y Neurofisiología ClínicaHospital Universitario Virgen del RocíoSevillaSpain

In recent years,the number of known disease genes has exponentially grown due to the widespread adoption of cost-effective massive parallel *** identify new disease variants,especially in monogenic disorders,a frequen... 详细信息

关键词： Server filtering massive

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Effectiveness of intermittent preventive treatment in pregnancy with sulfadoxine-pyrimethamine: An in silico pharmacological model

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Asian Pacific Journal of Tropical medicine 2020年第8期13卷 366-374页

作者： m.la nu nu htay Ian m Hastings Eva maria Hodel Katherine Kay Liverpool School of Tropical medicine Liverpool L35QAUnited Kingdom Department of Community medicine Melaka-Manipal Medical CollegeManipal Academy of Higher Education(MAHE)MelakaMalaysia m.lawi-Liverpool-Wellcome Trust Clinical Research Programme BlantyreMalawi University of Liverpool Liverpool L693GFUnited Kingdom metrum Research Group TariffvilleConnecticut06081United States of America

Objective:To explore the efficacy of intermittent preventive treatment in pregnancy(IPTp)with sulfadoxine and pyrimethamine(SP)against sensitive ***:A pharmacological model was used to investigate the effectiveness of the previous recommended at least two-dose regimen,currently recommended three-dose regimen and 4,6,8-weekly regimens with specific focus on the impact of various nonadherence patterns in multiple transmission ***:The effectiveness of the recommended three-dose regimen is high in all the transmission intensities,i.e.>99%,98%and 92%in low,moderate and high transmission intensities *** sim.lated 4 and 6 weekly IPTp-SP regimens were able to prevent new infections with sensitive parasites in almost all women(>99%)regardless of transmission ***,8 weekly interval dose schedules were found to have 71%and 86%protective efficacies in high and moderate transmission areas,*** highlights that patients are particularly vulnerable to acquiring new infections if IPTp-SP doses are ***:The pharmacological model predicts that full adherence to the currently recommended three-dose regimen should provide almost complete protection from m.laria infection in moderate and high transmission ***,it also highlights that patients are particularly vulnerable to acquiring new infections if IPTp doses are spaced too widely or if doses are *** to the recommended IPTp-SP schedules is recommended.

关键词： Intermittent preventive treatment in pregnancy Sulfadoxine-pyrimethamine m.laria infection in pregnancy Three-dose regimen In silico pharmacological model

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Prevention of de novo HBV infection by the presence of anti-HBs in transplanted patients receiving core antibody-positive livers

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World Journal of Gastroenterology 2006年第13期12卷 2070-2074页

作者： Rafael Barcena Gloria moraleda Javier moreno m Dolores martín Emilio de Vicente Jesús nuo m Luisa mateos Santos del Campo Department of Gastroenterology Hospital Ramón y Cajal Facultad de MedicinaUniversidad de AlcaláCtra. Colmenar Km 9.128034 MadridSpain Digestive Diseases Hospital Universitario la Paz 28034 MadridSpain Department of Surgery Hospital Ramón y Cajal Facultad de MedicinaUniversidad de Alcalá28034 MadridSpain Department of microbiology Hospital Ramón y Cajal Facultad de MedicinaUniversidad de Alcalá28034 MadridSpain

瞄准：分析在肝的 anti-HBs 的存在是否移植接受者在阻止 HBV 感染是有效的。方法：23 个病人收到 anti-HBc 积极的肝被学习。九个接受者是由于以前的 HBV 感染积极的 anti-HBc。他们，一个人也收到了在肝前移植时期期间疫苗的 HBV。十... 详细信息

瞄准：分析在肝的 anti-HBs 的存在是否移植接受者在阻止 HBV 感染是有效的。方法：23 个病人收到 anti-HBc 积极的肝被学习。九个接受者是由于以前的 HBV 感染积极的 anti-HBc。他们，一个人也收到了在肝前移植时期期间疫苗的 HBV。十四个接受者是由于在预先移植经期期间管理的 HBV 疫苗积极的 anti-HBs。肝活体检视在 10/14 anti-HBc negative/anti-HBs 被获得积极接受者并且在 4/9 anti-HBc 积极接受者。结果：在 46 个月的一个吝啬的后续时期以后，有保护的浆液 anti-HBs 层次的 1 个接受者作为有免疫力的逃跑 HBV 异种的后果得了 de novo HBV 感染。在 14 之中种牛痘的 anti-HBc negative/anti-HBs 积极接受者，有可得到的肝活体检视(10%) 的 1/10 病人在 13 瞬间有肝 HBV-DNA 没有浆液的肝以后的移植病毒的标记并且没得 de novo HBV 感染。种牛痘的 anti-HBc 没有 HBV 疫苗的反应的积极接受者是在浆液和肝积极的 HBV-DNA，病毒的 DNA 在下列测试是连续地否定的，自发的 seroconversion 因此被诊断。结论：由于 HBV 疫苗或过去的 HBV 感染的 anti-HBs 的存在似乎在保护从 anti-HBc 收到肝的病人有效积极施主。然而，有免疫力的逃跑 HBV 异种的出现，能躲避 anti-HBs 保护，应该被看作 HBV 感染的风险。

关键词：乙型肝炎肝移植病毒转染保护作用

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Single-atom heterogeneous catalysts based on distinct carbon nitride scaffolds

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National Science Review 2018年第5期5卷 642-652页

作者： Zupeng Chen Evgeniya Vorobyeva Sharon mitchell Edvin Fako nuúria López Sean m.Collins Rowan K.Leary Paul A.midgley RolaND Hauert Javier Pérez-Ramírez Institute for Chemical and Bioengineering Department of Chemistry and Applied BiosciencesETHZurich Institute of Chemical Research of Catalonia (ICIQ) The Barcelona Institute of Science and Technology 3. Department of Materials Science and MetallurgyUniversity of Cambridge 4. EmpaSwiss Federal Laboratories for Materials Science and Technology

Carbon nitrides integrating macroheterocycles offer unique potential as hosts for stabilizing metal atoms due to their rich electronic structure. To date, only graphitic heptazine-based polymers have been ***, we demonstrate that palladium atoms can be effectively isolated on other carbon nitride scaffolds including linear melem oligomers and poly(triazine/heptazine imides). Increased metal uptake was linked to the larger cavity size and the presence of chloride ions in the polyimide structures. Changing the host structure leads to significant variation in the average oxidation state of the metal, which can be tuned by exchange of the ionic species as evidenced by X-ray photoelectron spectroscopy and supported by density functional theory. Evaluation in the semi-hydrogenation of 2-methyl-3-butyn-2-ol reveals an inverse correlation between the activity and the degree of oxidation of palladium, with oligomers exhibiting the highest activity. These findings provide new mechanistic insights into the influence of the carbon nitride structure on metal stabilization.

关键词： single-atom heterogeneous catalysts carbon nitride scaffolds alkyne semi-hydrogenation density functional theory metal–host interaction

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Population Dynamics of Colonizing Fauna and Its Effect on Growth Rates of the Farmed Red Alga Alsidium triquetrum (S. G. Gmelin) Trevisan

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Natural Science 2022年第2期14卷 42-55页

作者： Ruben Cabrera Arsenio J. Areces Jhoana Díaz-larrea Sunil Kumar Sahu Juan Ricardo Cruz-Aviña laura G. nuñez García Gabinete de Arqueología Oficina del Historiador de la Ciudad Habana Vieja Cuba Instituto de Geografía Tropical Ministerio de Ciencia Tecnología y Medio Ambiente Municipio Playa Ciudad Habana Cuba Departamento de Hidrobiología Universidad Autónoma Metropolitana Unidad Iztapalapa CBS Cd de México México State Key laboratory of Biocontrol Guangdong Key Laboratory of Plant Resources School of Life Science Sun Yat-Sen University Guangzhou China Facultad de medicina Veterinaria y Zootecnia BUAP Laboratorio de Medicina de la Conservación Licenciatura en Medicina Veterinaria y Fauna Silvestre Km. 7.5 Carretera Ca&ntilde ada morelos El Salado Tecamachalco Puebla Mexico

Herbivores can drastically alter the morphology of macroalgae by directly consuming tissue and by inflicting structural wounds. macroalgae host abundant and diverse epibiont communities, the dynamics of which tend to be mostly unknown in space and time. As the cultivation of macroalgae gains momentum worldwide, it is key to measure how epibionts could affect algal performance. We examined the epibiont community associated with farmed Alsidium triquetrum, a red macroalga with growing pharmacological interest. measurements were conducted over two independent 60-day periods, one in summer and one in winter. Epibionts showed different patterns of succession in both seasons. Crustaceans, mainly amphipods, showed the highest overall density, with deleterious effects on daily growth rates of A. triquetrum in winter. Adverse effects as a function of epibionts were not detected in summer. A. triquetrum is a perennial alga. However, its performance as a crop in the nearshore can be significantly affected by the epibiont community structure that persists in winter. Amphipods and ascoglossan molluscs were risk factors in the mariculture of this agarophyte. In winter, they can destroy plants when they reach more than five individuals per gram of fresh biomass. Results highlight that commercial farming of A. triquetrum would be successful if grown throughout the summer.

关键词： Cultivation Epifauna macroalgae macroinvertebrates Seaweed mariculture

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Overall Assessment of Heat Transfer for a Rarefied Flow in a microchannel with Obstacles Using lattice Boltzmann method

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工程与科学中的计算机建模(英文) 2024年第1期138卷 273-299页

作者： Siham Hammid Khatir Naima Om.layo m.Ikumapayi Cheikh Kezrane Abdelkrim Liazid Jihad Asad mokdad Hayawi Rahman Farhan lafta Rashid Naseer Ali Hussien Younes menni laboratory of Development in mechanics and materials(LDmm) Zian Achour UniversityDjelfaPB 3117Algeria Department of Technology University Center Salhi Ahmed Naama(Ctr.Univ.Naama)P.O.Box 66Naama45000Algeria Department of mechanical and mechatronics Engineering Afe Babalola University Ado Ekiti360101Nigeria Departement of Physics Faculty of ScienceAbou Bekr Belkaid UniversityTlemcen13000Algeria Department of Physics Faculty of Applied SciencesPalestine Technical University-KadoorieTulkarmPalestine Aeronautical Technical Engineering Al-Farahidi UniversityBaghdad10011Iraq mechanical Engineering Department University of KerbalaKarbala56001Iraq Information and Communication Technology Research Group Scientific Research CenterAl-Ayen UniversityThi-QarIraq National University of Science and Technology Dhi QarIraq

The objective of this investigation is to assess the effect of obstacles on numerical heat transfer and fluid flow momentum in a rectangular microchannel(mC).Two distinct configurations were studied:one without obstacles and the other with alternating obstacles placed on the upper and lower *** research utilized the thermal lattice Boltzmann method(LBm),which solves the energy and momentum equations of fluids with the BGK approximation,implemented in a Python coding *** jump and slip velocity conditions were utilized in the sim.lation for the mC and extended to all obstacle *** study aims to analyze the rarefaction effect,with Knudsen numbers(Kn)of 0.012,0.02,and *** outcomes indicate that rarefaction has a significant impact on the velocity and temperature *** presence of nine obstacles led to slower fluid movement inside the microchannel mC,resulting in faster cooling at the *** mCs with obstacles,the rarefaction effect plays a crucial role in decreasing the nusselt number(nu)and skin friction coefficient(Cf).Furthermore,the study demonstrated that the obstacles played a crucial role in boosting fluid flow and heat transfer in the *** findings suggest that the examined configurations could have potential applications as cooling technologies in micro-electro-mechanical systems and microdevice applications.

关键词： microfluid rarefied flow LBm microchannel Knudsen number numerical sim.lation

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molecular Assessment of Athecate Dinoflagellates of the Order Gymnodiniales (Dinophyceae) in Todos Santos Bay, Baja California méxico

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American Journal of Plant Sciences 2021年第12期12卷 1926-1944页

作者： Alexis De Jesús Escarcega-Bata mary Carmen Ruiz-de la Torre maría Luisa nuñez Resendiz Luis manuel Enriquez-Paredes Kurt m. Dreckmann Abel Sentíes marine Science Faculty Autonomous University of Baja California Ensenada México Department of Hydrobiology Universidad Autónoma Metropolitana-Iztapalapa México México

The Gymnodiniales are the most important group of athecate dinoflagellates both for its abundance and distribution and for the harmful potential of several of its species. Although morphologically it is well known, phylogenetically it has been very little studied. HABs impact important coastal activities in Todos Santos Bay, so a detailed characterization of potentially toxic phytoplankton species is crucial in monitoring surveys. Therefore, the aim of the present study was to carry out a molecular assessment to the morphospecies of Gymnodiniales currently recorded in Todos Santos Bay, from which discussed their phylogenetic relationships. 120 samples were obtained from monthly samplings during 2019 to 2020. For all of them, 18 s small subunit (SSU) and 28 s large subunit (LSU) genes of rDNA were amplified and sequenced using single-cell PCR. Also, they were photographed. A phylogenetic analysis was performed on MrBayes from the combined 18 s - 28 s data set. The presence of 15 phylogenetic entities was confirmed, four of which constituted new records for the Mexican Pacific, as well as three harmful species, one toxic and two bloom-forming. Our molecular results evidenced the need to re-evaluate the current taxonomic system of athecate dinoflagellates at all hierarchical levels, integrating them with morphological evidence without preponderance of this criterion over taxonomic decisions.

关键词： Diversity HABS New Records Paraphyletic Groups Athecate Dinoflagellates

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Degradable magnesium-hydroxyapatite interpenetrating phase composites processed by current assisted metal infiltration in additive-manufactured porous preforms

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Journal of magnesium and Alloys 2022年第12期10卷 3641-3656页

作者： mariano Casas-Luna Edgar B.montufar Norbert Hort Sebastian Díaz-de-la-Torre JoséClaudio méndez-García Lucie Vištejnová Adam Brínek AlešDanhel Karel Dvorak Jozef Kaiser ladislav Celko Central European Institute of Technology Brno University of TechnologyPurkynova 123Brno 61200Czech Republic Institute of metallic Biomaterials Helmholtz-Zentrum HereonMax-Planck-Straße 1Geesthacht 21502Germany Institute of Product and Process Innovation Leuphana University LüneburgUniversitätsallee 1Lüneburg 21335Germany Centro de Investigación e Innovación Tecnológica Instituto Politécnico NacionalCerrada de Cecati s/nMexico City 02250Mexico Biomedical Center Faculty of Medicine in PilsenCharles UniversityAlej Svobody 1655/76Plzen 32300Czech Republic Institute of Biophysics of the Czech Academy of Sciences Královopolská135Brno 61265Czech Republic Faculty of Civil Engineering Brno University of TechnologyPurkynova 139Brno 61200Czech Republic

This work explores ceramic additive manufacturing in combination with liquid metal infiltration for the production of degradable interpenetrating phase magnesium/hydroxyapatite(mg/HA) composites. material extrusion additive manufacturing was used to produce stoichiometric,and calcium deficient HA preforms with a well-controlled open pore network, allowing the customization of the topological relationship of the composite. Pure mg and two different mg alloys were used to infiltrate the preforms by means of an advanced liquid infiltration method inspired by spark plasma sintering, using a novel die design to avoid the structural collapse of the preform. Complete infiltration was achieved in 8 min, including the time for the mg melting. The short processing time enabled to restrict the decomposition of HA due to the reducing capacity of liquid mg. The pure mg-base composites showed compressive yield strength above pure mg in cast state. mg alloy-based composites did not show higher strength than the bare alloys due to grain coarsening, but showed sim.lar mechanical properties than other mg/HA composites that have significantly higher fraction of metallic phase. The composites showed faster degradation rate under sim.lated body conditions than the bare metallic component due to the formation of galvanic pairs at microstructural level. mg dissolved preferentially over HA leaving behind a scaffold after a prolonged degradation period. In turn, the fast production of soluble degradation products caused cell metabolic changes after 24 h of culture with not-diluted material extracts. The topological optimization and reduction of the degradation rate are the topics for future research.

关键词： Interpenetrating phase composite Biodegradable metal Topological relationship Direct ink writing metal infiltration Computed aided design

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Influence of the macronutrients N, P and K on the Agarophyte <i>Alsidium triquetrum</i>(S. G. Gmelin) Trevisan, during Experimental Culture

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American Journal of Plant Sciences 2021年第4期12卷 573-585页

作者： Ruben Cabrera Arsenio J. Areces Jhoana Díaz-larrea laura nuñez García J. Ricardo Cruz-Aviña Gabinete de Arqueología Oficina del Historiador de la Ciudad Habana Vieja Cuba Instituto de Geografia Tropical Ministerio de Ciencia Tecnología y Medio Ambiente Ciudad Habana Cuba Unidad Iztapalapa Departamento de Hidrobiología Universidad Autónoma Metropolitana Cd de México México Departamento de Recursos Naturales Academia de Investigación y Ciencia Universidad Tecnológica de Calakmul Calakmul México

The knowledge of the nutritional requirements and their relation to the physiology of marine algae growth is key to incorporate new species into aquaculture, whose dynamics tend to be largely unknown. The use of Alsidium triquetrum in the pharmacological industry depends on its availability in the natural environment, occasionally scarce. As macroalgae cultivation gains momentum worldwide, it is important to know how the effects of nutrients are modulated in the thallus during cultivation. The linking of the relative growth rates (RGR) of A. triquetrum and their relation with the macronutrients N (nitrogen), P (phosphorus) and K (potassium) at the tissue level under culture conditions constitutes the main contribution of this article. P levels tend to decrease as the plant completes its development. Both the concentration of N and P are higher in the stipe for the month of July, N (25.31 ± 0.26) vs P (0.846 ± 0.02) period when the highest vegetative development is reached. The N and P modulate the patterns of the species’ development over the annual cycle, unlike K, which is not considered a limiting factor. When the temperature and lighting are not favorable for growth, the plant simply accumulates these compounds. As environmental conditions change, these stored compounds are actively used in their growth. The specimens with an initial weight of 50 g present the best accumulated biomass (RGR) throughout the annual cycle.

关键词： Alsidium triquetrum Culture Phosphorus macronutrients Nitrogen Potassium Growth Rate

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First progeria monkey model generated using base editor

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Protein & Cell 2020年第12期11卷 862-865页

作者： Pradeep Reddy Yanjiao Shao Reyna Hernandez-Benitez Estrella nunez Delicado Juan Carlos Izpisua Belmonte Gene Expression laboratory Salk Institute for Biological Studies10010 North Torrey Pines RoadLa JollaCA 92037USA Universidad Catolica San Antonio de murcia(UCAm) Campus de los JerdnimosN°13512Guadalupe 30107Spain

In this issue,Wang et *** on the generation of a nonhuman primate model of Hutchinson-Gilford progeria syndrome(HGPS)using a base *** editing is an emerging novel genome editing technique for modifying a single base pair at specific sites in the *** editors(BEs)have two prin cipal comp orients,a catalytically in active or single strand cleaving Cas-variant,which binds to the guide RNA and a nucleobase deaminase domain to convert specific base pairs at the target loci(Komor et al.,2016;Nishida et al.,2016;Gaudelli et al.,2017).Cytosine base editor(CBE)and adenine base editor(ABE)are two baseeditors,which con vert Cytosi ne-Gua nine(C-G)to Thymine-Adenine(T-A)and A-T to G-C,respectively.

关键词： base convert editor

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