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Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts

Journal of Genetics and Genomics 2024年第2期51卷 222-229页

作者： Wenbin Huang Shiying zhang Jiuxiang lin yi Ding Nan Jiang Jieni zhang Huaxiang Zhao Feng Chen Department of Orthodontics Peking University School and Hospital of StomatologyBeijing100081China Key Laboratory of Shaanxi Province for Craniofacial Precision Medicine Research College of StomatologyXi’an Jiaotong UniversityXi’anShaanxi710004China Guangdong Provincial High-level Clinical Key Specialty Guangdong Province Engineering Research Center of Oral Disease Diagnosis and TreatmentDepartment of OrthodonticsStomatological CenterPeking University Shenzhen HospitalShenzhen Peking University-The Hong Kong University of Science and Technology Medical CenterShenzhenGuangdong 518036China Department of Physiology and Pathophysiology School of Basic Medical SciencesXi'an Jiaotong UniversityXi'anShaanxi710049China National Center for Stomatology National Clinical Research Center for Oral DiseasesNational Engineering Laboratory for Digital and Material Technology of StomatologyBeijing Key Laboratory for Digital StomatologyResearch Center of Engineering and Technology for Computerized Dentistry Ministry of HealthNMPA Key Laboratory for Dental MaterialsBeijing100101China Central Laboratory Peking University School and Hospital of StomatologyBeijing100081China

Orofacial clefts (OFCs) are the most common congenital craniofacial disorders, of which the etiology is closely related to rare coding variants. Filamin B (FLNB) is an actin-binding protein implicated in bone formation. FLNB mutations have been identified in several types of syndromic OFCs and previous studies suggest a role of FLNB in the onset of non-syndromic OFCs (NSOFCs). Here, we report two rare heterozygous variants (p.P441T and p.G565R) in FLNB in two unrelated hereditary families with NSOFCs. Bioinformatics analysis suggests that both variants may disrupt the function of FLNB. In mammalian cells, p.P441T and p.G565R variants are less potent to induce cell stretches than wild type FLNB, suggesting that they are loss-of-function mutations. Immunohistochemistry analysis demonstrates that FLNB is abundantly expressed during palatal development. Importantly, Flnb^(−/−) embryos display cleft palates and previously defined skeletal defects. Taken together, our findings reveal that FLNB is required for development of palates in mice and FLNB is a bona fide causal gene for NSOFCs in humans.

关键词： Or ofacial clefts FLNB Loss-of-function mutati on Cleft palate Filamin B Actin flannent Knockout mouse

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Fangji Fuling Decoction Alleviates Sepsis by Blocking MAPK14/FOXO3A Signaling Pathway

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Chinese Journal of Integrative Medicine 2024年第3期30卷 230-242页

作者： WANG yi CHEN Ming-qi DAI lin-feng zhang Hai-dong WANG Xing Department of Critical Care Medicine Changzhou Hospital of Traditional of Chinese Medicine Affiliated to Nanjing University of Chinese MedicineChangzhouJiangsu Province213000China Department of Critical Care Medicine Jiangsu Province Hospital of Chinese Medicine Affiliated to Nanjing University of Chinese MedicineNanjing210029China

Objective:To examine the therapeutic effect of Fangji Fuling Decoction(FFD) on sepsis through network pharmacological analysis combined with in vitro and in vivo ***:A sepsis mouse model was constructed through intraperitoneal injection of 20 mg/kg lipopolysaccharide(LPS).RAW264.7 cells were stimulated by 250 ng/m L LPS to establish an in vitro cell *** pharmacology analysis identified the key molecular pathway associated with FFD in *** ectopic expression and depletion experiments,the effect of FFD on multiple organ damage in septic mice,as well as on cell proliferation and apoptosis in relation to the mitogen-activated protein kinase 14/Forkhead Box O 3A(MAPK14/FOXO3A) signaling pathway,was ***:FFD reduced organ damage and inflammation in LPS-induced septic mice and suppressed LPS-induced macrophage apoptosis and inflammation in vitro(Pling pathway during *** confirmed by in vitro cell experiments,FFD inhibited the MAPK14 signaling pathway or FOXO3A expression to relieve LPS-induced macrophage apoptosis and inflammation(Pling pathway to inhibit LPS-induced macrophage apoptosis in the lung tissue of septic mice(Pling pathway.

关键词： sepsis Fangji Fuling Decoction mitogen-activated protein kinase 14/Forkhead Box O 3A signaling pathway inflammatory response apoptosis lung injury Chinese medicine

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Adhesion strength of tetrahydrofuran hydrates is dictated by substrate stiffness

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Petroleum Science 2024年第1期21卷 667-673页

作者： Yan-Wen lin Tong Li yi zhang Wei-Wei Yan Xiao-Ming Chen Zhi-Sen zhang Jian-Yang Wu Department of Physics Research Institute for Biomimetics and Soft MatterJiujiang Research Institute and Fujian Provincial Key Laboratory for Soft Functional Materials ResearchXiamen UniversityXiamen361005FujianChina Key Laboratory of Marine Materials and Related Technologies Zhejiang Key Laboratory of Marine Materials and Protective TechnologiesNingbo Institute of Materials Technology and EngineeringChinese Academy of SciencesNingbo315201ZhejiangChina Key Laboratory of Icing and Anti/De-icing China Aerodynamics Research and Development CenterMianyang621000SichuanChina Micro-and Nano-technology Research Center State Key Laboratory for Manufacturing Systems EngineeringXi’an Jiaotong UniversityXi’an710049ShaanxiChina Electronic Materials Research Lab Key Laboratory of the Ministry of EducationXi’an Jiaotong UniversityXi’an710049ShaanxiChina NTNU Nanomechanical Lab Norwegian University of Science and Technology(NTNU)Trondheim7491Norway

Understanding the hydrate adhesion is important to tackling hydrate accretion in ***,the relationship between the Tetrahydrofuran(THF)hydrate adhesion strength(AS)and surface stiffness on elastic coatings is systemically examined by experimental shear force measurements and theoretical *** mechanical factor-elastic modulus of the coatings greatly dictates the hydrate AS,which is explained by the adhesion mechanics theory,beyond the usual factors such as wettability and structural ***,the hydrate AS increases with reducing the thickness of the elastic coatings,resulted from the decrease of the apparent surface elastic *** effect of critical thickness for the elastic materials with variable elastic modulus on the hydrate AS is also *** study provides deep perspectives on the regulation of the hydrate AS by the elastic modulus of elastic materials,which is of significance to design anti-hydrate surfaces for mitigation of hydrate accretion in petro-pipelines.

关键词： Hydrate Adhesion strength Elastic modulus Coatings

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A fast forward computational method for nuclear measurement using volumetric detection constraints

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Nuclear Science and Techniques 2024年第2期35卷 47-63页

作者： Qiong zhang lin-Lv lin University of Electronic Science and Technology of China Chengdu 610000China

Owing to the complex lithology of unconventional reservoirs,field interpreters usually need to provide a basis for interpretation using logging simulation *** the various detection tools that use nuclear sources,the detector response can reflect various types of information of the *** Monte Carlo method is one of the primary methods used to obtain nuclear detection responses in complex ***,this requires a computational process with extensive random sampling,consumes considerable resources,and does not provide real-time response ***,a novel fast forward computational method(FFCM)for nuclear measurement that uses volumetric detection constraints to rapidly calculate the detector response in various complex environments is ***,the data library required for the FFCM is built by collecting the detection volume,detector counts,and flux sensitivity functions through a Monte Carlo ***,based on perturbation theory and the Rytov approximation,a model for the detector response is derived using the flux sensitivity function method and a one-group diffusion *** environmental perturbation is constrained to optimize the model according to the tool structure and the impact of the formation and borehole within the effective detection ***,the method is applied to a neutron porosity tool for *** various complex simulation environments,the maximum relative error between the calculated porosity results of Monte Carlo and FFCM was 6.80%,with a rootmean-square error of 0.62 *** field well applications,the formation porosity model obtained using FFCM was in good agreement with the model obtained by interpreters,which demonstrates the validity and accuracy of the proposed method.

关键词： Nuclear measurement Fast forward computation Volumetric constraints

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Restraining growth of Zn dendrites by poly dimethyl diallyl ammonium cations in aqueous electrolytes

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Rare Metals 2024年第8期43卷 3735-3747页

作者： Xiang-Xin zhang Yuan-Qiang Chen Chang-Xin lin Yuan-Sheng lin Guo-lin Hu Yong-Chuan Liu Xi-Lai Xue Su-Jing Chen Zhan-lin Yang Bai-Sheng Sa yi-Ning zhang Key Laboratory of Optoelectronic Materials Chemistry and Physics Fujian Institute of Research on the Structure of MatterChinese Academy of SciencesFuzhou 350002China Helmholtz Institute Ulm(HIU) 89081 UlmGermany Karlsruhe Institute of Technology(KIT) 76021 KarlsruheGermany College of Materials Science and Engineering Fuzhou UniversityFuzhou350108China

Metallic zinc is an excellent anode material for Zn-ion batteries,but the growth of Zn dendrite severely hinders its practical ***,an efficient and economical cationic additive,poly dimethyl diallyl ammonium(PDDA) was reported,used in aqueous Zn-ion batteries electrolyte for stabilizing Zn *** growth of zinc dendrites can be significantly restrained by benefiting from the pronounced electrostatic shielding effect from PDDA on the Zn metal ***,the PDDA is preferentially absorbed on Zn(002) plane,thus preventing unwanted side reactions on Zn *** to the introduction of a certain amount of PDDA additive into the common ZnSO_(4)-based electrolyte,the cycle life of assembled Zn‖Zn cells(1 mA·cm^(-2) and 1 mAh·cm^(-2)) is prolonged to more than 1100 *** response to the perforation issue of Zn electrodes caused by PDDA additives,the problem can be solved by combining foamy copper with zinc *** real application,Zn-ion hybrid supercapacitors and MnO_(2)‖Zn cells were assembled,which exhibited excellent cycling stability with PDDA *** work provides a new solution and perspective to cope with the dendrite growth problem of Zn anode.

关键词： PDDA Electrostatic shielding effect Zn anode Zn dendrites

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Aero-Hydro-Elastic-Servo Modeling and Dynamic Response Analysis of A Monopile Offshore Wind Turbine Under Different Operating Scenarios

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China Ocean Engineering 2024年第3期38卷 379-393页

作者： XIE Shuang-yi GAO Jian LI Yong-ran JIANG Shu-xin zhang Cheng-lin HE Jiao College of Mechanical Engineering Chongqing University of TechnologyChongqing 400044China Beijing Institute of Precision Mechatronics and Controls Beijing 100076China College of Mechanical and Vehicle Engineering Chongqing UniversityChongqing 400044China Fishery Machinery and Instrument Research Institute Chinese Academy of Fishery SciencesShanghai 200092China School of Mechanical and Power Engineering Chongqing University of Science&TechnologyChongqing 401331China

This paper constructs a coupled aero-hydro-elastic-servo simulation framework for a monopile offshore wind turbine(OWT).In this framework,a detailed multi-body dynamics model of the monopile OWT including the gearbox,blades,tower and other components(nacelle,hub,bedplate,etc.)has been explicitly *** effects of pile−soil interaction,controller and operational conditions on the turbine dynamic responses are studied systematically in time domain and frequency *** results show that(1)a comprehensive drivetrain model has the capability to provide a more precise representation of the complex dynamic characteristics exhibited by drivetrain components,which can be used as the basis for further study on the dynamic characteristics of the drivetrain.(2)The pile−soil interaction can influence the wind turbine dynamic responses,particularly under the parked condition.(3)The effect of the pile−soil interaction on tower responses is more significant than that on blade responses.(4)The use of the controller can substantially affect the rotor characteristics,which in turn influences the turbine dynamic responses.(5)The tower and blade displacements under the operational condition are much larger than those under the parked *** model and methodology presented in this study demonstrate potential for examining complex dynamic behaviors of the monopile *** ensure accuracy and precision,it is imperative to construct a detailed model of the wind turbine system,while also taking into account simulation efficiency.

关键词： offshore wind turbine(OWT) pile−soil interaction dynamic response parked condition operating condition

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A nanoplatform with oxygen self-supplying and heat-sensitizing capabilities enhances the efficacy of photodynamic therapy in eradicating multidrug-resistant biofilms

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Journal of Materials Science & Technology 2024年第2期169卷 209-219页

作者： Haixin zhang yi Zou Kunyan Lu Yan Wu Yuancheng lin Jingjing Cheng Chunxia Liu Hong Chen Yanxia zhang Qian Yu State and Local Joint Engineering Laboratory for Novel Functional Polymeric Materials College of ChemistryChemical Engineering and Materials ScienceSoochow UniversitySuzhou 215123China Department of Cardiovascular Surgery of the First Affiliated Hospital and Institute for Cardiovascular Science Suzhou Medical College of Soochow UniversitySoochow UniversitySuzhou 215007China

Bacterial biofilms,especially those caused by multidrug-resistant bacteria,have emerged as one of the greatest dangers to global public *** acceleration of antimicrobial resistance to conventional an-tibiotics and the severe lack of new drugs necessitates the development of novel agents for biofilm *** therapy(PDT)is a promising non-antibiotic method for treating bacterial ***,its application in biofilm eradication is hampered by the hypoxic microenvironment of biofilms and the physical protection of extracellular polymeric *** this study,we develop a composite nanoplatform with oxygen(O_(2))self-supplying and heat-sensitizing capabilities to improve the PDT efficacy against ***_(2)/ICG@PDA nanoparticles(CIP NPs)are fabricated by combining calcium peroxide(CaO_(2))with the photosensitizer indocyanine green(ICG)via electrostatic interactions,followed by coating with polydopamine(PDA).The CIP NPs can gradually generate O_(2)in response to the acidic microenvironment of the biofilm,thereby alleviating its hypoxic *** near-infrared(NIR)irradiation,the nanoplatform converts O_(2)into a significant amount of singlet oxygen(^(1)O_(2))and heat to eradicate *** generated heat enhances the release of O_(2),accelerates the generation of^(1)O_(2)in PDT,increases cell membrane permeability,and increases bacterial sensitivity to^(1)O_(2).This nanoplatform significantly improves the efficacy of PDT in eradicating biofilm-dwelling bacteria without fostering drug *** on biofilm eradication demonstrate that this nanoplatform can eradicate over 99.9999%of methicillin-resistant Staphylococcus aureus(MRSA)biofilms under 5-min NIR ***,these integrated advantages enable the system to promote the healing of MRSA biofilm-infected wounds with negligible toxicity in vivo,indicating great promise for overcoming the obstacles associated with bacterial biofilm eradication.

关键词： Bacterial biofilm Multidrug-resistant bacteria Photodynamic therapy Oxygen supplying Photothermal therapy

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On the Shallowing of Antarctic Low-Level Temperature Inversions Projected by CESM-LE under RCP8.5

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Journal of Meteorological Research 2024年第3期38卷 586-599页

作者： Minghu DING lin zhang Tingfeng DOU yi HUANG yingyan LUO Junmei LYU Cunde XIAO State Key Laboratory of Severe Weather Chinese Academy of Meteorological SciencesChina Meteorological AdministrationBeijing100081China Key Laboratory of Meteorology and Ecological Environment of Hebei Province Hebei Provincial Institute of Meteorological SciencesShijiazhuang050021China College of Resources and Environment University of Chinese Academy of SciencesBeijing100049China State Key Laboratory of Earth Surface Processes and Resource Ecology Beijing Normal UniversityBeijing100875China

Temperature inversions are frequently observed in the boundary layer and lower troposphere of polar *** variations of the low-level temperature inversions in these regions,especially the Antarctic,are still poorly *** to the scarcity of observations in the Antarctic,reanalysis data and numerical simulations are often used in the study of Antarctic climate *** on ERA-Interim,ERA5,JRA-55,and NCEP-NCAR reanalysis products,this study examines temporal and spatial variations of Antarctic inversion depth in austral autumn and winter during *** inversions are found to occur over the high plateau areas of the Antarctic *** on the Mann-Kendall test,ERA-Interim and ERA5 data reveal that the Antarctic inversion depth in austral autumn and winter increased during 1992-2007,roughly maintained afterwards,and then significantly decreased since around *** decrease trend is more obvious in the last two months of ***,JRA-55 better represents the spatial distribution of inversion depth,and ERA-Interim has better interannual *** Community Earth System Model Large Ensemble(CESM-LE)30-member simulations in 1979-2005 were first verified against JRA-55,showing reasonable consistency,and were then used to project the future changes of Antarctic low-level inversion depth over 2031-2050 under *** CESM-LE projection results reveal that the temperature inversion will shallow in the Antarctic at the end of the 21st century,and the decrease in depth in autumn will be more pronounced than that in *** particular,the temperature inversion will weaken over the ice-free ocean,while it will remain stable over the ice sheet,showing certain spatial heterogeneity and seasonal dependence on the underlying cryospheric surface *** addition,the decrease of inversion depth is found closely linked with the reduction in sea ice,suggesting the strong effect of global warming on the thermal structure change o

关键词： boundary layer temperature inversion Antarctic climate change Community Earth System Model Large Ensemble(CESM-LE)

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A direct polymeric carbon nitride/tungsten oxide Z-scheme heterostructure for efficient photocatalytic hydrogen generation via reforming of plastics into value-added chemicals

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Rare Metals 2024年第8期43卷 3771-3783页

作者： Rui-Zhe Wang Zhi lin yi-Qing Wang Kai-Ni zhang Ge-Hong zhang Jie zhang Samuel S.Mao Shao-Hua Shen International Research Center for Renewable Energy State Key Laboratory of Multiphase Flow in Power EngineeringXi'an Jiaotong UniversityXi'an 710049China School of Civil and Architecture Engineering Xi'an Technological UniversityXi'an 710021China Department of Mechanical Engineering University of California at BerkeleyBerkeleyCA94720USA

To promote charge transfer and separation for efficient photocatalysis,a direct Z-scheme heterostructure was constructed by coupling polymeric carbon nitride(PCN) and WO_(3).Interestingly,the obtained PCN/WO_(3)Z-scheme heterostructure could photocataly tic ally produce hydrogen and value-added chemicals(e.g.,formate and acetate) by reforming of plastic polylactic acid(PLA) in alkaline aqueous *** optimizing WO_(3) contents and reaction conditions,the obtained PCN/WO_(3)heterostructure exhibits much increased photocatalytic activity for PLA photoreforming under visible light,with hydrogen evolution rate reaching 402.90 μmol·g~(-1)·h~(-1),which is 3.5 times that of *** is revealed that the Z-scheme charge transfer between PCN and WO_(3) mainly contributes to the promoted charge separation and thus the improved photocatalytic ***,with h+and·OH experimentally evidenced as the predominant active species,a possible reaction pathway for the reforming of PLA into value-added chemicals(e.g.,formate and acetate)over PCN/WO_(3) Z-scheme heterostructure is cleared by monitoring the reaction intermediates and *** work paves a carbon neutrality and scalable route toward the synergistical production of hydrogen and value-added chemicals by utilizing and recycling plastic waste.

关键词： Carbon nitride Z-scheme heterojunction Plastic waste conversion Photocatalytic H_(2)production Value-added chemicals

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Bayesian network-based survival prediction model for patients having undergone post-transjugular intrahepatic portosystemic shunt for portal hypertension

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World Journal of Gastroenterology 2024年第13期30卷 1859-1870页

作者： Rong Chen ling Luo Yun-Zhi zhang Zhen Liu An-lin Liu yi-Wen zhang Department of Infectious Diseases Second Affiliated Hospital of Chongqing Medical UniversityChongqing 400016China

BACKGROUND Portal hypertension(PHT),primarily induced by cirrhosis,manifests severe symptoms impacting patient *** transjugular intrahepatic portosystemic shunt(TIPS)is a critical intervention for managing PHT,it carries risks like hepatic encephalopathy,thus affecting patient survival *** our knowledge,existing prognostic models for post-TIPS survival in patients with PHT fail to account for the interplay among and collective impact of various prognostic factors on ***,the development of an innovative modeling approach is essential to address this *** To develop and validate a Bayesian network(BN)-based survival prediction model for patients with cirrhosis-induced PHT having undergone *** The clinical data of 393 patients with cirrhosis-induced PHT who underwent TIPS surgery at the Second Affiliated Hospital of Chongqing Medical University between January 2015 and May 2022 were retrospectively *** were selected using Cox and least absolute shrinkage and selection operator regression methods,and a BN-based model was established and evaluated to predict survival in patients having undergone TIPS surgery for *** Variable selection revealed the following as key factors impacting survival:age,ascites,hypertension,indications for TIPS,postoperative portal vein pressure(post-PVP),aspartate aminotransferase,alkaline phosphatase,total bilirubin,prealbumin,the Child-Pugh grade,and the model for end-stage liver disease(MELD)*** on the above-mentioned variables,a BN-based 2-year survival prognostic prediction model was constructed,which identified the following factors to be directly linked to the survival time:age,ascites,indications for TIPS,concurrent hypertension,post-PVP,the Child-Pugh grade,and the MELD *** Bayesian information criterion was 3589.04,and 10-fold cross-validation indicated an average log-likelihood loss of 5.55 with a standard deviation of *** model’s acc

关键词： Bayesian network Cirrhosis Portal hypertension Transjugular intrahepatic portosystemic shunt Survival prediction model

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