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Microdeletion on Xq27.1 in a Chinese VACTERL-Like Family with Kidney and Anal Anomalies

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Biomedical and Environmental Sciences 2024年第5期37卷 503-510页

作者： LI Min zhang Yu Lan zhang Kai Li LI Ping Ping LYU Yu Han LIANG Ya Xin YU Yue Department of Gynecology and Obstetrics Beijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China Chinese Academy of Medical Sciences and Peking Union Medical College Beijing HospitalBeijing 100730China The Key Laboratory of Geriatrics Beijing Institute of GeriatricsBeijing HospitalNational Center of GerontologyInstitute of Geriatric MedicineChinese Academy of Medical SciencesBeijing 100730China

Objective VATER/VACTERL-like association is associated with adverse pregnancy *** evidence of this disorder is *** this study,we aimed to provide genetic insights to improve the diagnosis of *** We have described a Chinese family in which four members were affected by renal defects or agenesis,anal atresia,and anovaginal fistula,which is consistent with the diagnosis of a VACTERL-like *** and genetic analyses were conducted using genome and exome *** Segregation analysis revealed the presence of a recessive X-linked microdeletion in two living affected individuals,harboring a 196–380 kb microdeletion on Xq27.1,which was identified by familial exome *** sequencing was performed on the affected male,confirming a-196 kb microdeletion in Xq27.1,which included a 28%loss of the CDR-1 *** family members were included in the co-segregation analysis,and only VACTERL-like cases with microdeletions were reported in *** These results suggest that the 196–380 kb microdeletion in Xq27.1 could be a possible cause of the VATER/VACTERL-like ***,further genetic and functional analyses are required to confirm or rule out genetic background as the definitive cause of the VACTERL association.

关键词： Prenatal diagnosis VACTERL whole-genome sequencing whole-exome sequencing X-linked

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KLF4 facilitates chromatin accessibility remodeling in porcine early embryos

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Science China(Life Sciences) 2024年第1期67卷 96-112页

作者： Wei Zhu Guowei Bu Ruifeng Hu Jixiang zhang Lianyong Qiao Kai Zhou Tingting Wang Qiao Li Jingjing zhang Linhui Wu Yali Xie Taotao Hu Shichun Yang Jiaqi Guan Xiaoyu Chu Juanjuan Shi Xia zhang Falong Lu Xin Liu Yi-Liang Miao Institute of Stem Cell and Regenerative Biology College of Animal Science and Veterinary MedicineHuazhong Agricultural UniversityWuhan 430070China Key Laboratory of Agricultural Animal Genetics Breeding and Reproduction(Huazhong Agricultural University)Ministry of EducationWuhan 430070China State Key Laboratory of Molecular Developmental Biology Institute of Genetics and Developmental BiologyInnovative Academy of Seed DesignChinese Academy of SciencesBeijing 100101China Frontiers Science Center for Animal Breeding and Sustainable Production Huazhong Agricultural UniversityWuhan 430070China Hubei hongshan Laboratory Wuhan 430070China

Chromatin accessibility remodeling driven by pioneer factors is critical for the development of early *** studies have illustrated several pioneer factors as being important for agricultural animals,but what are the pioneer factors and how the pioneer factors remodel the chromatin accessibility in porcine early embryos is not *** employing low-input DNase-seq(liDNase-seq),we profiled the landscapes of chromatin accessibility in porcine early embryos and uncovered a unique chromatin accessibility reprogramming pattern during porcine preimplantation *** data revealed that KLF4 played critical roles in remodeling chromatin accessibility in porcine early *** down of KLF4 led to the reduction of chromatin accessibility in early embryos,whereas KLF4 overexpression promoted the chromatin openness in porcine ***,KLF4 deficiency resulted in mitochondrial dysfunction and developmental failure of porcine *** addition,we found that overexpression of KLF4 in blastocysts promoted lipid droplet accumulation,whereas knockdown of KLF4 disrupted this *** together,our study revealed the chromatin accessibility dynamics and identified KLF4 as a key regulator in chromatin accessibility and cellular metabolism during porcine preimplantation embryo development.

关键词： porcine embryos liDNase-seq chromatin accessibility KLF4 mitochondrion lipid droplets

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Thermal Property Enhancement of a Novel Shape-Stabilized Sodium Acetate Trihydrate-Acetamide/Expanded Graphite-Based Composite Phase Change Material

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Journal of Thermal Science 2024年第4期33卷 1564-1576页

作者： AN Zhoujian HOU Wenjie DU Xiaoze HUANG Zhongzheng MOMBEKI PEA Hamir Johan zhang Dong LIU Xiaomin College of Energy and Power Engineering Lanzhou University of TechnologyLanzhou730050China Key Laboratory of Multi-supply System with Solar Energy and Biomass of Gansu Province Lanzhou730050China Gansu Natural Energy Research Institute Lanzhou730046China

Phase change materials(PCMs)are a kind of highly efficient thermal storage materials which have a bright application prospect in many fields such as energy conservation in buildings,waste heat recovery,battery thermal management and so *** inorganic hydrated salt PCMs have received increasing attention from researchers due to their advantages of being inexpensive and ***,inorganic hydrated salt PCMs are still limited by the aspects of inappropriate phase change temperature,liquid phase leakage,large supercooling and severe phase separation in the application *** this work,sodium acetate trihydrate was selected as the basic inorganic PCM,and a novel shape-stabilized composite phase change material(CPCM)with good thermal properties was prepared by adding various functional *** first,the sodium acetate trihydrate-acetamide binary mixture was prepared and the melting point was adjusted using *** the binary mixture was incorporated into expanded graphite to synthesize a novel shape-stabilized *** thermophysical properties of the resultant shape-stabilized CPCM were systematically *** microscopic morphology and chemical structure of the obtained shape-stabilized CPCM were characterized and *** experiment results pointed out that acetamide could effectively lower the melting point of sodium acetate *** obtained shape-stabilized CPCM modified with additional 18%(mass fraction)acetamide and 12%(mass fraction)expanded graphite exhibited good shape stability and thermophysical characteristics:a low supercooling degree of 1.75℃and an appropriate melting temperature of 40.77℃were obtained;the latent heat of 151.64 kJ/kg and thermal conductivity of 1.411 W/(m·K)were also ***,after 50accelerated melting-freezing cycles,the obtained shape-stabilized CPCM represented good thermal reliability.

关键词： sodium acetate trihydrate melting point modification agent expanded graphite shape stability thermal conductivity enhancement

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Thermofluidic investigations of oil natural transformer:Closed-loop modelling and experimental validation

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High Voltage 2024年第1期9卷 230-240页

作者： Yuan Li Yiran Gao Chen Wang Chao Zhu Ying Li Yuankai Wang Guanjun zhang State Key Laboratory of Electrical Insulation and Power Equipment Xi'an Jiaotong UniversityXi'anChina Electric Power Research Institute of State Grid Shaanxi Electric Power Co. Ltd.Xi'anChina TBEA Hengyang Transformer Co. Ltd.HengyangChina

Excessively high temperatures inside a power transformer can accelerate the ageing rate and even cause unplanned *** estimating the hot-spot temperature(HST)of a power transformer is important for regulating the load and ensuring long-term *** this study,a closed-loop model of a 110-kV product transformer with an oil natural/air forced(ONAF)cooling mode is built to predict HST,in which the compression ratio of windings,equivalent heat source and radiator geometry are *** to the flow field of the winding,the‘dead oil zone’and reverse oil flow are observed in the horizontal oil *** accuracy of the proposed model is experimentally validated by temperature-rise *** results show that the absolute errors between the measured results and simulation are below 5°C,and the average error is~2°***,the arrangements of windings and radiators are studied to enhance the oil *** adding 5 washers to the high-voltage winding,the average temperature can be decreased by 6°C compared with the case without a *** the radiator can also mitigate the characteristic temperatures,and the optimal height difference between the radiator and winding centre is suggested to be 0.66 m.

关键词： winding arrangement adding

Ferroelectric BaTiO_(3) /Pr_(2)O_(3) heterojunction harvesting roomtemperature cold–hot alternation energy for efficiently pyrocatalytic dye decomposition

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Journal of Advanced Ceramics 2024年第1期13卷 44-52页

作者： Zheng Wu Taosheng Xu Luohong zhang Tingting Liu Zhansheng Wu Gangqiang Zhu Yanmin Jia School of Environmental and Chemical Engineering Xi’an Key Laboratory of Textile Chemical Engineering AuxiliariesXi’an Polytechnic UniversityXi’an 710048China School of Physics and Information Technology Shaanxi Normal UniversityXi’an 710062China

The strong pyrocatalytic dye decomposition of the BaTiO_(3)/Pr_(2)O_(3) heterojunction catalyst under cold–hot alternation conditions has been demonstrated in this *** pure BaTiO_(3) nanofibers,~54%rhodamine B(RhB)dye is decomposed under the cold–hot alternation of 29–57℃.With the loading content of Pr_(2)O_(3) increases from 0 to 4 wt%,the pyrocatalytic decomposition ratio of RhB solution increases first and then decreases,eventually achieving a maximum of 91%at 3 wt%.The enhanced pyrocatalytic performance after loading Pr_(2)O_(3) can be attributed to an internal electric field of the heterojunction,which effectively separates positive and negative *** strongly pyrocatalytic performance of BaTiO_(3)/Pr_(2)O_(3) makes it hopeful for applications in the dye wastewater treatment through harvesting the environmental cold–hot temperature alternation thermal energy in future.

关键词： pyroelectric materials BaTiO_(3) pyrocatalysis BaTiO_(3)/Pr_(2)O_(3)heterojunction dye decomposition

Corrosion Behavior of Pre-oxidized GH4169 Alloy with Solid NaCl Deposited in a Wet Oxygen Flow at 600℃

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Acta Metallurgica Sinica(English Letters) 2024年第7期37卷 1249-1264页

作者： Weidong zhang Yu Cui Li Liu Wenquan Wang Wenzheng Chen Rui Li Fuhui Wang Shenyang National Laboratory for Materials Science Northeastern UniversityShenyang110819China Shi-Changxu Innovation Center for Advanced Materials Institute of Metal ResearchChinese Academy of SciencesShenyang110016China

The corrosion behavior of the pre-oxidized GH4169 alloy was studied after 20 h of exposure under a solid NaCl deposit film in a wet O_(2) environment at 600℃by mass-gain measurements,X-ray diffraction,scanning electron microscopy,transmission electron microscopy *** results indicate that the pre-oxidized GH4169 alloy undergoes serious corrosion in the corrosive *** preformed Cr_(2)O_(3) layer is gradually destroyed by deposit NaCl,and the inner Nb2O5 layer beneath the complete outer Cr_(2)O_(3) layer also reacts with NaCl to form NaNbO_(3).The electrochemical test results testified the existence of electrochemical reactions during this corrosion *** corrosion behavior of pre-oxidized GH4169 under a solid NaCl deposit film in a wet O_(2) environment at 600℃has been discussed in detail.

关键词： Pre-oxidation Solid NaCl Wet O2 Electrochemical corrosion

Achieving asymmetric redox chemistry for oxygen evolution reaction through strong metal-support interactions

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Journal of Energy Chemistry 2024年第9期96卷 526-535页

作者： Shihao Wang Meiling Fan hongfei Pan Jiahui Lyu Jinsong Wu Haolin Tang Haining zhang State Key Laboratory of Advanced Technology for Materials Synthesis and Processing Wuhan University of TechnologyWuhan 430070HubeiChina National Energy Key Laboratory for New Hydrogen-Ammonia Energy Technologies Foshan Xianhu LaboratoryFoshan 528200GuangdongChina International School of Materials Science and Engineering(School of Materials and Microelectronics) Wuhan University of TechnologyWuhan 430070HubeiChina Nanostructure Research Centre Wuhan University of TechnologyWuhan 430070HubeiChina Hubei Key Laboratory of Fuel Cell Wuhan University of TechnologyWuhan 430070HubeiChina

Water electrolysis poses a significant challenge for balancing catalytic activity and stability of oxygen evolution reaction(OER)*** this study,we address this challenge by constructing asymmetric redox chemistry through elaborate surface OO–Ru–OH and bulk Ru–O–Ni/Fe coordination moieties within single-atom Ru-decorated defective NiFe LDH nanosheets(Ru@d-NiFe LDH)in conjunction with strong metal-support interactions(SMSI).Rigorous spectroscopic characterization and theoretical calculations indicate that single-atom Ru can delocalize the O 2p electrons on the surface and optimize d-electron configurations of metal atoms in bulk through ***^(18)O isotope labeling experiment based on operando differential electrochemical mass spectrometry(DEMS),chemical probe experiments,and theoretical calculations confirm the encouraged surface lattice oxygen,stabilized bulk lattice oxygen,and enhanced adsorption of oxygen-containing intermediates for bulk metals in Ru@d-NiFe LDH,leading to asymmetric redox chemistry for *** Ru@d-NiFe LDH electrocatalyst exhibits exceptional performance with an overpotential of 230 mV to achieve 10 mA cm^(−2)and maintains high robustness under industrial current *** approach for achieving asymmetric redox chemistry through SMSI presents a new avenue for developing high-performance electrocatalysts and instills confidence in its industrial applicability.

关键词： Reaction redox chemistry Strong metal-support interactions Layered double hydroxides Electrocatalysts Water electrolysis

Precise immobilization of metal single atoms into a porphyrinic metal-organic framework for an efficient alkene hydrosilylation

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Nano Research 2024年第7期17卷 5914-5921页

作者： Chun-Ying Chen Qi-Jie Mo Fu-Zhen Li Hai-Li Song Li zhang MOE Laboratory of Bioinorganic and Synthetic Chemistry Lehn Institute of Functional MaterialsSchool of ChemistrySun Yat-Sen UniversityGuangzhou 510006China

Alkene hydrosilylation is one of the most concise and atom-economical methods to synthesize organosilicon ***,we reported the precise immobilization of metal single atoms(M-SAs;M=Ru,Rh,Ir,Pd,Pt,and Au)into a porphyrinic metalorganic framework(MOF)of PCN-222(PCN=porous coordination network),and then applied the resultant MOF composites of M-SAs@PCN-222 to alkene *** solvent-free conditions,Pt-SAs@PCN-222 displayed an especially high catalytic efficiency with the turnover frequency up to 119 s−1 and the maximum turnover number of 906,250 at room *** and theoretical studies revealed that there existed strong interactions between Pt-SAs@PCN-222 and the substrates,which helped to condense the substrates in the cavities of the porous *** density functional theory calculations and molecular dynamics simulations disclosed that PCN-222 could transfer electrons to Pt-SAs to enhance the silane oxidative addition and drive the reaction to proceed smoothly via Chalk–Harrod pathway.

关键词： alkene hydrosilylation single atom catalysts metal-organic frameworks precision chemistry synergistic catalysis

Cross-Modal Graph Semantic Communication Assisted by Generative AI in the Metaverse for 6G

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Research 2024年第2期7卷 19-27页

作者： Mingkai Chen Minghao Liu Congyan Wang Xingnuo Song Zhe zhang Yannan Xie Lei Wang Key Laboratory of Broadband Wireless Communication and Sensor Network Technology Nanjing University of Posts and TelecommunicationsNanjng 210003China State Key Laboratory of Organic Electronics and Information Displays&Institute of Advanced Materials(IAM) Nanjing University of Posts and TelecommunicationsNanjing 210023China

Recently, the development of the Metaverse has become a frontier spotlight, which is an important demonstration of the integration innovation of advanced technologies in the Internet. Moreover, artificial intelligence (AI) and 6G communications will be widely used in our daily lives. However, the effective interactions with the representations of multimodal data among users via 6G communications is the main challenge in the Metaverse. In this work, we introduce an intelligent cross-modal graph semantic communication approach based on generative AI and 3-dimensional (3D) point clouds to improve the diversity of multimodal representations in the Metaverse. Using a graph neural network, multimodal data can be recorded by key semantic features related to the real scenarios. Then, we compress the semantic features using a graph transformer encoder at the transmitter, which can extract the semantic representations through the cross-modal attention mechanisms. Next, we leverage a graph semantic validation mechanism to guarantee the exactness of the overall data at the receiver. Furthermore, we adopt generative AI to regenerate multimodal data in virtual scenarios. Simultaneously, a novel 3D generative reconstruction network is constructed from the 3D point clouds, which can transfer the data from images to 3D models, and we infer the multimodal data into the 3D models to increase realism in virtual scenarios. Finally, the experiment results demonstrate that cross-modal graph semantic communication, assisted by generative AI, has substantial potential for enhancing user interactions in the 6G communications and Metaverse.

关键词： modal frontier guarantee