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Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients

World Journal of Diabetes 2024年第2期15卷 275-286页

作者： Ping Shi Yang Tian Feng Xu lu-na liu Wan-Hong Wu Ying-Zhou Shi An-Qi Dai Hang-Yu Fang Kun-Xia Li Chao Xu Department of Endocrinology Shandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinan 250021Shandong ProvinceChina Department of Pediatric Yantai Yuhuangding Hospital Affiliated to Qingdao UniversityYantai 264099Shandong ProvinceChina

BACKGROUND Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1(APPL1)plays a crucial role in regulating insulin signaling and glucose *** in the APPL1 gene have been associated with the development of maturity-onset diabetes of the young type 14(MODY14).Currently,only two mutations[c.1655T>A(***552*)and c.281G>A p.(Asp94Asn)]have been identified in association with this *** the limited understanding of MODY14,it is imperative to identify additional cases and carry out comprehensive research on MODY14 and APPL1 *** To assess the pathogenicity of APPL1 gene mutations in diabetic patients and to characterize the functional role of the APPL1 *** Patients exhibiting clinical signs and a medical history suggestive of MODY were screened for the *** exome sequencing was performed on the patients as well as their family *** pathogenicity of the identified APPL1 variants was predicted on the basis of bioinformatics *** addition,the pathogenicity of the novel APPL1 variant was preliminarily evaluated through in vitro functional ***,the impact of these variants on APPL1 protein expression and the insulin pathway were assessed,and the potential mechanism underlying the interaction between the APPL1 protein and the insulin receptor was further *** A total of five novel mutations were identified,including four missense mutations(Asp632Tyr,Arg633His,Arg532Gln,and Ile642Met)and one intronic mutation(1153-16A>T).Pathogenicity prediction analysis revealed that the Arg532Gln was pathogenic across all *** Asp632Tyr and Arg633His variants also had pathogenicity based on *** addition,multiple alignment of amino acid sequences showed that the Arg532Gln,Asp632Tyr,and Arg633His variants were conserved across different ***,in in vitro functional experiments,both the c.1894G>T(at Asp632Tyr)and c.1595G>A(at Arg532Gln)mutations

关键词： Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1 Maturity-onset diabetes of the young Bioinformatics analysis Gene mutation Domain

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Fe-modified HZSM-5 catalysts for ethanol conversion into light olefins

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Journal of natural Gas Chemistry 2011年第4期20卷 423-427页

作者： Jiangyin lu Yancong liu na Li Key Laboratory of Oil and Gas Fine Chemicals of Ministry of Education Xinjiang University Urumqi 830046 Xinjiang China

A series of Fe/HZSM-5 catalysts with different iron loadings were prepared by impregnation *** was performed by N2 adsorption-desorption,X-ray diffraction（XRD）,NH3 temperature-programmed desorption（NH3-TPD）,temperature-programmed reduction （TPR）,temperature-programmed oxidation（TPO）and thermogravimetry（TG）*** content in the synthesized samples varied from 1.1 wt%to 20 wt%.The obtained samples have been used for ethanol conversion into light *** was found that the amount of strong acidity at 300 -5 50-C on Fe-modified samples was decreased,going with another new acid site appearance at 550- 600-C and that Fe/HZSM-5 catalysts were highly selective towards light olefins,especially the 9FZ *** addition,Fe-modified catalysts suppressed the conversion of ethanol to aromatics and paraffins and enhanced their anti-carbon deposit ability.

关键词： bio-ethanol light olefins HZSM-5 Fe modification

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Strong-coupling superconductivity with Tc above 70 K in Be-decorated monolayer T-graphene

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Science China(Physics,Mechanics & Astronomy) 2024年第1期67卷 99-105页

作者： liu Yang Peng-Fei liu Hao-Dong liu Ya-Ping Li na Jiao Hong-Yan lu Bao-Tian Wang Ping Zhang School of Physics and Physical Engineering Qufu Normal UniversityQufu 273165China Institute of High Energy Physics Chinese Academy of SciencesBeijing 100049China Spallation Neutron Source Science Center Dongguan 523803China Institute of Applied Physics and Computational Mathematics Beijing 100088China

Using first-principles calculations,we predict a new type of two-dimensional(2D)beryllium(Be)-decorated T-graphene named BeC_(2),where Be atoms are inserted into C–C bonds linking the carbon tetrarings of *** band structure shows that BeC_(2)is metallic,thus,the possible phonon-mediated superconductivity is explored based on the Eliashberg *** calculated electron-phonon coupling(EPC)constantλis up to 4.07,and the corresponding superconducting critical temperature(Tc)is 72.1 K,approaching the liquid nitrogen *** reason for the high Tc is the strong *** it is proved to be an anisotropic single-gap superconductor by analyzing the superconducting gap?kof BeC_(2).The electronic susceptibility calculation shows strong nesting effect in BeC_(2).Since rare 2D superconductors show such a strong EPC constantλwhich originates from the coupling between electrons in C-pzorbital and in-plane vibrations of Be and C atoms,the predicted BeC_(2)provides a new platform for investigating strong EPC 2D superconductor.

关键词： two-dimensional carbon-based superconductor electron-phonon coupling strong coupling high superconducting critical temperature

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Etching-free pixel definition in InGaN green micro-LEDs

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Light(Science & Applications) 2024年第8期13卷 1655-1665页

作者： Zhiyuan liu Yi lu Haicheng Cao Glen Isaac Maciel Garcia Tingang liu Xiao Tang na Xiao Raul Aguileta Vazquez Mingtao Nong Xiaohang Li Advanced Semiconductor Laboratory Electrical and Computer Engineering ProgramCEMSE DivisionKing Abdullah University of Science and Technology(KAUST)Thuwal 23955-6900Kingdom of Saudi Arabia

The traditional plasma etching process for defining micro-LED pixels could lead to significant sidewall *** near sidewall regions act as non-radiative recombination centers and paths for current leakage,significantly deteriorating device *** this study,we demonstrated a novel selective thermal oxidation(STO)method that allowed pixel definition without undergoing plasma damage and subsequent dielectric *** annealing in ambient air oxidized and reshaped the LED structure,such as p-layers and InGaN/GaN multiple quantum ***,the pixel areas beneath the pre-deposited SiO_(2)layer were selectively and effectively *** was demonstrated that prolonged thermal annealing time enhanced the insulating properties of the oxide,significantly reducing LED leakage ***,applying a thicker SiO_(2)protective layer minimized device resistance and boosted device efficiency *** the STO method,InGaN green micro-LED arrays with 50-,30-,and 10-μm pixel sizes were manufactured and *** results indicated that after 4 h of air annealing and with a 3.5-μm SiO_(2)protective layer,the 10-μm pixel array exhibited leakage currents density 1.2×10^(-6)A/cm^(2)at-10 V voltage and a peak on-wafer external quantum efficiency of~6.48%.This work suggests that the STO method could become an effective approach for future micro-LED manufacturing to mitigate adverse LED efficiency size effects due to the plasma etching and improve device ***-LEDs fabricated through the STO method can be applied to micro-displays,visible light communication,and optical interconnect-based *** planar pixel geometry will provide more possibilities for the monolithic integration of driving circuits with ***,the STO method is not limited to micro-LED fabrication and can be extended to design other III-nitride devices,such as photodetectors,laser diodes,high-electron-mobility transistors

关键词： annealing protective quantum

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Comparative analysis of the microbiome of sympatric wintering Bean Geese,Domestic Ducks,humans,and soil at Shengjin Lake of China reveals potential public risk to human health

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Avian Research 2024年第2期15卷 279-286页

作者： Gang liu na Xu Chongyang Yu College of Life Sciences Anhui Medical UniversityHefei 230032China

The gut microbiota of migratory waterbirds is affected by various complex factors,including cross-species transmission,which increases the risk of pathogen spreading among sympatric animals and poses a potential public health risk to *** this study,we investigated the microbial communities of wintering Bean Geese(Anser fabalis),Domestic Ducks(*** domesticus),humans,and soil using high-throughput sequencing of the 16S rRna gene region in Shengjin Lake,*** total,6,046,677 clean reads were obtained,representing 41,119 operational taxonomic units(OTUs)across the four *** dominant microbial phyla were the Proteobacteria,Firmicutes,Bacteroidota,and *** Sorensen similarity index and alpha and beta diversity results showed that the gut microbial communities of Bean Geese and Domestic Ducks were more similar to those of the other *** analysis revealed that Faecalibacterium prausnitzii,Pseudomonas fragi,and Bradyrhizobium elkanii were hubs of the three major *** common microbiomes were iden-tified in Bean Geese,Domestic Ducks,humans,and soil in Shengjin Lake.A total of 96 potential pathogens were identified among the four groups,with 20 specific potentially pathogenic microbiomes found in the gut of Bean *** of these pathogens are responsible for significant financial losses in the poultry industry and pose risks to human *** pneumoniae,Morganella morganii,Escherichia coli,and Ralstonia insidiosa are potential core pathogens found in the four groups at Shengjin Lake that can cause diseases in humans and an-imals and facilitate cross-species transmission through various ***,humans are at risk of con-tracting these pathogens from migratory birds because of their frequent contact with domestic ***,further studies are required to explore the potential pathogenic species and transmission pathways among sympatric wintering Bean Geese,Domestic Ducks,humans,and soil.

关键词： Microbiome Migratory waterbird Pathogens Poultry Sympatric species

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Scattering-based hybrid network for facial attribute classification

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Frontiers of Computer Science 2024年第3期18卷 105-116页

作者： na liu Fan ZHANG Liang CHANG Fuqing DUAN School of Artificial Intelligence Beijing Normal UniversityBeijing 100875China

Face attribute classification(FAC)is a high-profile problem in biometric verification and face *** recent research has been devoted to extracting more delicate image attribute features and exploiting the inter-attribute correlations,significant challenges still *** scattering transform(WST)is a promising non-learned feature *** has been shown to yield more discriminative representations and outperforms the learned representations in certain *** to the image classification task,WST can enhance subtle image texture information and create local deformation *** paper designs a scattering-based hybrid block,to incorporate frequency-domain(WST)and image-domain features in a channel attention manner(Squeezeand-Excitation,SE),termed WS-SE *** with CNN,WS-SE achieves a more efficient FAC performance and compensates for the model sensitivity of the small-scale affine *** addition,to further exploit the relationships among the attribute labels,we propose a learning strategy from a causal *** cause attributes defined using the causalityrelated information can be utilized to infer the effect attributes with a high confidence *** analysis experiments demonstrate the effectiveness of our model,and our hybrid model obtains state-of-the-art results in two public datasets.

关键词： wavelet scattering transform causality-related learning facial attribute classification

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Advances in self-assembly-based circularly polarized luminescent materials

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Science China Chemistry 2024年第10期67卷 3247-3257页

作者： Bing-Hao liu Yang Zong na liu Zong-Quan Wu State Key Laboratory of Supramolecular Structure and Materials College of ChemistryJilin UniversityChangchun 130012China The School of Pharmaceutical Sciences Jilin UniversityChangchun 130021China

Circularly polarized luminescent(CPL)materials have garnered attention for their diverse applications,including three-dimensional(3D)imaging,bio-imaging,chiral sensing,and other emerging ***,the fabrication of CPL-activated materials required the use of chiral luminescent small *** introduction of the idea of self-assembly has transformed the production of CPL-activated materials,providing new and promising opportunities for their *** utilizing self-assembly,it is now feasible to produce chiral nano-assemblies with CPL activity not only from chiral molecules but also from non-chiral substances and inorganic *** addition,self-assembly routes provide a way to increase the asymmetry factor,creating possibilities for additional refinement and adjustment of CPL material *** review offers a summary of the current progress and developments in the self-assembly of small molecules and polymers,with a specific emphasis on their capacity to create or enhance CPL in different *** aim of this review is to inspire interest in optical materials that are based on the principles of self-assembly.

关键词： circularly polarized luminescence photochemistry self-assembly chiral materials

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Enlarged interlayer of separator coating enabling high-performance lithiumsulfur batteries

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Frontiers of Chemical Science and Engineering 2024年第2期18卷 103-112页

作者： Yanqi Feng Hui liu Xiaoting liu Qiongqiong lu School of Materials&Environment Engineering Chengdu Technological UniversityChengdu 611730China School of Materials Science and Engineering Shaanxi Key Laboratory of Green Preparation and Functionalization for Inorganic MaterialsShaanxi University of Science and TechnologyXi’an 710021China Green Catalysis Center and College of ChemistryZhengzhou UniversityZhengzhou 450001China Institute of Materials Henan Key Laboratory of Advanced Conductor MaterialsHenan Academy of SciencesZhengzhou 450046China Leibniz Institute for Solid State and Materials Research(IFW) Dresden e.V.Dresden 01069Germany

Lithiumsulfur batteries have been intensively studied due to their high theoretical energy density and abundant sulfur resources. However, their commercial application is hindered by the low redox kinetics and high sulfur losses. In principle, in the design of cathodes and separators, the adsorption toward lithium-polysulfides should be enhanced and the conversion of soluble high-order lithium-polysulfides should be catalyzed. Herein, a KV_(3)O_(8)·0.75H_(2)O separator is designed as an effective lithium-polysulfides mediator in lithiumsulfur batteries. The intercalated K+ would enlarge the interlayer spacing of vanadium oxides, preventing the collapse of the layer structure and improving the electrical/ion conductivity of the interface. Moreover, the KV_(3)O_(8)·0.75H_(2)O modified separator possess a prior adsorption and high redox kinetics toward lithium-polysulfides due to the enhanced diffusion kinetics, which guarantees the high-rate capability and efficient utilization of sulfur. As a result, lithiumsulfur batteries exhibit a high capacity of 1362 mAh·g^(-1) and a long lifespan with a low capacity loss of 0.073% per cycle. This work may provide an alternative way to establish a functional separator to balance the adsorption and conversion of polysulfides during the redox back and forth.

关键词： lithium kinetics adsorption

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Tuning mechanical behaviors of highly entangled hydrogels with the random distribution of mobile entanglements

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Applied Mathematics and Mechanics(English Edition) 2024年第2期45卷 277-294页

作者： Jinlong liu Di lu Bin CHEN Department of Engineering Mechanics Zhejiang UniversityHangzhou 310027China Beijing System Design Institute of Electro-Mechanic Engineering Beijing 100854China Intelligent Robotic Research Center Zhejiang LaboratoryHangzhou 310027China Key Laboratory of Soft Machines and Smart Devices of Zhejiang Province Hangzhou 311100China

Highly entangled hydrogels exhibit excellent mechanical properties,including high toughness,high stretchability,and low *** considering the evolution of randomly distributed entanglements within the polymer network upon mechanical stretches,we develop a constitutive theory to describe the large stretch behaviors of these *** the theory,we utilize a representative volume element(RVE)in the shape of a cube,within which there exists an averaged chain segment along each edge and a mobile entanglement at each *** employing an explicit method,we decouple the elasticity of the hydrogels from the sliding motion of their entanglements,and derive the stress-stretch relations for these *** present theoretical analysis is in agreement with experiment,and highlights the significant influence of the entanglement distribution within the hydrogels on their *** also implement the present developed constitutive theory into a commercial finite element software,and the subsequent simulations demonstrate that the exact distribution of entanglements strongly affects the mechanical behaviors of the structures of these ***,the present theory provides valuable insights into the deformation mechanism of highly entangled hydrogels,and can aid in the design of these hydrogels with enhanced performance.

关键词： highly entangled hydrogel constitutive theory entanglement gamma distribution

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FedDAA:a robust federated learning framework to protect privacy and defend against adversarial attack

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Frontiers of Computer Science 2024年第2期18卷 107-122页

作者： Shiwei lu Ruihu LI Wenbin liu Fundamentals Department Air Force Engineering UniversityXi’an 710051China Institute of Advanced Computational Science and Technology Guangzhou UniversityGuangzhou 510006China

Federated learning(FL)has emerged to break data-silo and protect clients’privacy in the field of artificial ***,deep leakage from gradient(DLG)attack can fully reconstruct clients’data from the submitted gradient,which threatens the fundamental privacy of *** cryptology and differential privacy prevent privacy leakage from gradient,they bring negative effect on communication overhead or model ***,the original distribution of local gradient has been changed in these schemes,which makes it difficult to defend against adversarial *** this paper,we propose a novel federated learning framework with model decomposition,aggregation and assembling(FedDAA),along with a training algorithm,to train federated model,where local gradient is decomposed into multiple blocks and sent to different proxy servers to complete *** bring better privacy protection performance to FedDAA,an indicator is designed based on image structural similarity to measure privacy leakage under DLG attack and an optimization method is given to protect privacy with the least proxy *** addition,we give defense schemes against adversarial attack in FedDAA and design an algorithm to verify the correctness of aggregated *** results demonstrate that FedDAA can reduce the structural similarity between the reconstructed image and the original image to 0.014 and remain model convergence accuracy as 0.952,thus having the best privacy protection performance and model training *** importantly,defense schemes against adversarial attack are compatible with privacy protection in FedDAA and the defense effects are not weaker than those in the traditional ***,verification algorithm of aggregation results brings about negligible overhead to FedDAA.

关键词： federated learning privacy protection adversarial attacks aggregated rule correctness verification

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