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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141,DDHD2,and LHFPL5

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Frontiers of Medicine 2024年第1期18卷 81-97页

作者： Liwei sun xueting Yang Amjad Khan xue Yu Han Zhang Shirui Han Xiaerbati Habulieti Yang sun Rongrong Wang xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory for Complex Severe and Rare DiseasesInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing100005China Chongqing Key Laboratory of Human Embryo Engineering Center for Reproductive MedicineNational Key Clinical Speciality Construction Project(Obstetrics and Gynecology)Chongqing Health Center for Women and ChildrenChongqing400013China Chongqing Clinical Research Center for Reproductive Medicine Women and Children’s Hospital of Chongqing Medical UniversityChongqing400013China Faculty of Biological Sciences Department of ZoologyUniversity of Lakki MarwatKhyber Pakhtunkhwa28420Pakistan Institute for Medical Genetics and Applied Genomics University of TübingenTübingen72076Germany Alexander von Humboldt fellowship Foundation Berlin10117Germany Department of Pediatrics The First Affiliated Hospital of Guangxi Medical UniversityNanning530000China Department of Laboratory Medicine State Key Laboratory for Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing100730China

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and *** variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic ***,a Pakistani family with parental consanguinity was presented,characterized with severe intellectual disability(ID),spastic paraplegia,and *** mapping,integrated single nucleotide polymorphism(SNP)array,whole-exome sequencing,and whole-genome sequencing were performed,and homozygous variants in TMEM141(c.270G>A,***90^(*)),DDHD2(c.411+767_c.1249-327del),and LHFPL5(c.250delC,***84^(*))were identified.A Tmem141^(***90^(*)/***90^(*))mouse model was *** studies showed impairments in learning ability and motor *** slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje *** electron microscopy showed abnormal mitochondrial ***,studies on a human in vitro neuronal model(SH-SY5Y cells)with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function,possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse ***,panoramic variation analysis revealed that multilocus genomic variations of TMEM141,DDHD2,and LHFPL5 together caused variable phenotypes in ***,the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141

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Digital CEOs in Digital Enterprises:Automating,Augmenting,and Parallel in Metaverse/CPSS/TAOs

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IEEE/CAA Journal of Automatica Sinica 2024年第4期11卷 820-823页

作者： Juanjuan Li Rui qin Sangtian Guan Xiao xue Peng Zhu Fei-Yue Wang with State Key Laboratory of Multimodal Artificial Intelligence Systems Institute of AutomationChinese Academy of SciencesBeijing 100190China the College of Intelligence and Computing Tianjin UniversityTianjin 300072China School of Economics and Management Nanjing University of Science and TechnologyNanjing 210094China the State Key Laboratory for Management and Control of Complex Systems Chinese Academy of SciencesBeijing 100190 Faculty of Innovation Engineering Macao University of Science and TechnologyMacao 999078China

BIG models or foundation models are rapidly emerging as a key force in advancing intelligent societies[1]–[3]Their significance stems not only from their exceptional ability to process complex data and simulate advan... 详细信息

关键词： exceptional Auto advancing

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Stepping forward:T-cell redirecting bispecific antibodies in cancer therapy

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Acta Pharmaceutica Sinica B 2024年第6期14卷 2361-2377页

作者： Xiaojing qin Wenjing Ning Han Liu xue Liu Wenxin Luo Ningshao Xia State Key Laboratory of Vaccines for Infectious Diseases Xiang An Biomedicine LaboratorySchool of Public HealthXiamen UniversityXiamen 361102China National Institute of Diagnostics and Vaccine Development in Infectious Diseases State Key Laboratory of Molecular Vaccinology and Molecular DiagnosticsNational Innovation Platform for IndustryeEducation Integration in Vaccine Researchthe Research Unit of Frontier Technology of Structural Vaccinology of Chinese Academy of Medical SciencesXiamen UniversityXiamen 361102China

T cell-redirecting bispecific antibodies are specifically designed to bind to tumor-associated antigens,thereby engaging with CD3 on the T cell *** linkage between tumor cells and T cells actively triggers T cell activation and initiates targeted killing of the identified tumor *** antibodies have emerged as one of the most promising avenues within tumor ***,despite success in treating hematological malignancies,significant advancements in solid tumors have yet to be *** this review,we aim to address the critical challenges associated with T cellredirecting bispecific antibodies and explore novel strategies to overcome these obstacles,with the ultimate goal of expanding the application of this therapy to include solid tumors.

关键词： Bispecific antibody(BsAbs) T-cell redirecting BsAbs Tumor-associated antigens Toxicity Cytokine release syndrome Tumor microenvironment Cancer immunotherapy Combination therapy strategies

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Learning a Mixture of Conditional Gating Blocks for Visual Question Answering

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Journal of Computer Science & Technology 2024年第4期39卷 912-928页

作者： Qiang sun Yan-Wei Fu Xiang-Yang xue School of Statistics and Information Shanghai University of International Business and EconomicsShanghai 201620China Academy for Engineering and Technology Fudan UniversityShanghai 200433China School of Data Science Fudan UniversityShanghai 200433China School of Computer Science Fudan UniversityShanghai 200433China

As a Turing test in multimedia,visual question answering(VQA)aims to answer the textual question with a given ***,the“dynamic”property of neural networks has been explored as one of the most promising ways of improving the adaptability,interpretability,and capacity of the neural network ***,despite the prevalence of dynamic convolutional neural networks,it is relatively less touched and very nontrivial to exploit dynamics in the transformers of the VQA tasks through all the stages in an end-to-end ***,due to the large computation cost of transformers,researchers are inclined to only apply transformers on the extracted high-level visual features for downstream vision and language *** this end,we introduce a question-guided dynamic layer to the transformer as it can effectively increase the model capacity and require fewer transformer layers for the VQA *** particular,we name the dynamics in the Transformer as Conditional Multi-Head Self-Attention block(cMHSA).Furthermore,our questionguided cMHSA is compatible with conditional ResNeXt block(cResNeXt).Thus a novel model mixture of conditional gating blocks(McG)is proposed for VQA,which keeps the best of the Transformer,convolutional neural network(CNN),and dynamic *** pure conditional gating CNN model and the conditional gating Transformer model can be viewed as special examples of *** quantitatively and qualitatively evaluate McG on the CLEVR and VQA-Abstract *** experiments show that McG has achieved the state-of-the-art performance on these benchmark datasets.

关键词： visual question answering Transformer dynamic network

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Resilience-driven cooperative reconfiguration strategy for unmanned weapon system-of-systems

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Journal of Systems Engineering and Electronics 2024年第4期35卷 932-944页

作者： sun qin LI Hongxu ZENG Yifan ZHANG Yingchao School of Systems Science and Engineering Sun Yat-sen UniversityGuangzhou 510006China

As the unmanned weap system-of systems(UWSoS)becomes complex,the inevitable uncertain interference gradu-ally increases,which leads to a strong emphasis on the resilience of ***,this paper presents a resilience-driven cooperative reconfiguration strategy to enhance the resilience of ***,a unified resilience-driven coopera-tive reconfiguration strategy framework is designed to guide the UWSoS resilience ***,a cooperative reconfiguration strategy algorithm is proposed to identify the optimal cooperative reconfiguration sequence,combining the cooperative pair resilience contribution index(CPRCI)and coop-erative pair importance index(CPII).At last,the effectiveness and superiority of the proposed algorithm are demonstrated through various attack scenario simulations that include differ-ent attack modes and *** analysis results can pro-vide a reference for decision-makers to manage UWSoS.

关键词： resilience strategy unmanned weapon system-of-systems(UWSoS) cooperative reconfiguration unmanned con-frontation

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The stance and factors of international organizations towards countries from a Chinese perspective

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Data Intelligence 2024年第1期6卷 158-182页

作者： qin Zhang Haili xue Yaotian Wang Yao Wang Ziqin Zhang qinghua qin Haoguang Liang National Science Library Chinese Academy of Sciences100190China China Center for Modernization Research 100190China Beijing International Studies University 100024China Beijing Key Laboratory of National Belt and Road Data Analysis and Decision Support 100024China University College London WC1E 6BTUK

The degree and scope of constraints imposed by International Organizations(IOs)on States are increasing,and identifying the factors affecting the IOs’stances on States is helpful to enhance the state's discourse power and influence in the international ***,by coding the records of Regular Press Conferences of the Speaking Office of the Chinese Ministry of Foreign Affairs during the period of 20182022,we obtained a dataset of IOs’stances on China-related ***,we constructed political relation,economic relation,and humanistic relation indicators to complement the influence factors,adopted the Bayesian logit model,and applied the Monte Carlo Markov chain algorithm and Gibbs sampling to analyze the probability of IOs’positive stances towards *** result shows that IOs’category,length of establishment,functional position,and relationship with China are all related to their tendency of making a statement about *** terms of the heterogeneity of event types,forum-type IOs are significantly inclined to give positive assessment compared to service-type IOs on events focusing on China's own *** analysis reveals that the model for analyzing and predicting the attitudes of IOs is more effective when the international situation is in a stable period.

关键词： Bayesian Logit Model IOs' stances Attitude analysis Monte Carlo Markov chain International relation indicator

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Integrated bound-state-in-the-continuum photon-pair source

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Photonics Research 2024年第6期12卷 1322-1327页

作者： FAN YE YUE qin CHENFEI CUI XIANKAI sun HON KI TSANG Department of Electronic Engineering The Chinese University of Hong KongHong KongChina

Integrated photon-pair sources based on spontaneous parametric down conversion(SPDC)in novel high-χ^((2))materials are used in quantum photonic systems for quantum information processing,quantum metrology,and quantum ***,the need for extensive fabrication process development and optimization of dry-etching processes significantly impedes the rapid exploration of different material platforms for low-loss quantum photonic ***,bound states in the continuum(BICs)have emerged as a promising approach for realizing ultralow-loss integrated photonic circuits without requiring an etching *** realizations of BIC photonic circuits have,however,been limited primarily to the classical ***,we explore the BIC phenomena in the quantum regime and show that the etchless BIC platform is suitable for use in integrated entangled photon-pair sources based on the SPDC process in high-χ^((2))*** lithium niobate as an example,we demonstrate photon-pair generation at telecommunication wavelengths,attaining a maximum internal generation rate of 3.46 MHz,a coincidence-to-accidental ratio of 5773,and an experimental two‐photon interference visibility of 94%.Our results demonstrate that the BIC platform can be used for quantum photonic circuits,and this will enable the rapid exploration of different emergingχ^((2))materials for possible use in integrated quantum photonics in the future.

关键词： process quantum continuum

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Price Mechanism,Government Constraints and Carbon Trading Pilot Policy for Emission Reduction

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Data Intelligence 2024年第3期6卷 621-648页

作者： Wei Huang Haili xue qin Zhang Haoguang Liang University of Chinese Academy of Sciences 100190China National Science Library Chinese Academy of Sciences100190China China Center for Modernization Research 100190China Beijing Key Laboratory of National Belt and Road Data Analysis and Decision Support 100024China

Based on the data of 247 cities at the prefecture level in China from 2007 to 2019,this paper analyzes the impact of the carbon emissions trading(CET)pilot policy on carbon emission reduction from the perspective of the price mechanism and government *** results show that the carbon emissions and carbon intensity in the pilot areas are significantly reduced by adjusting the industrial structure and promoting green technology *** terms of regions,the emission reduction effect of the pilot policy in regions with a high proportion of industry is obviously weaker than that in other *** aim of the carbon emission trading policy in China that achieve carbon emission reduction is by coordinating the carbon emission trading price that fail to fulfill this aim independently and the degree of government punishment for enterprises.

关键词： Carbon emission reduction Double difference Price incentive mechanism Government restraint mechanism

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Full waveform inversion based on hybrid gradient

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Petroleum Science 2024年第3期21卷 1660-1670页

作者： Chuang Xie Zhi-Liang qin Jian-Hua Wang Peng Song Heng-Guang Shen Sheng-Qi Yu Ben-Jun Ma xue-qin Liu qingdao Innovation and Development Base Harbin Engineering UniversityQingdao266000ShandongChina qingdao Innovation and Development Center Harbin Engineering UniversityQingdao266000ShandongChina CNOOC Research Institute Co. Ltd.Beijing100028China College of Marine Geoscience Ocean University of ChinaQingdao266100ShandongChina Weihai sunfull Geophysical Exploration Equipment Co. Ltd.Weihai264209ShandongChina

The low-wavenumber components in the gradient of full waveform inversion(FWI)play a vital role in the stability of the ***,when FWI is implemented in some high frequencies and current models are not far away from the real velocity model,an excessive number of low-wavenumber components in the gradient will also reduce the convergence rate and inversion *** solve this problem,this paper firstly derives a formula of scattering angle weighted gradient in FWI,then proposes a hybrid *** hybrid gradient combines the conventional gradient of FWI with the scattering angle weighted gradient in each inversion frequency band based on an empirical formula derived *** weighted hybrid mode,we can retain some low-wavenumber components in the initial lowfrequency inversion to ensure the stability of the inversion,and use more high-wavenumber components in the high-frequency inversion to improve the convergence *** results of synthetic data experiment demonstrate that compared to the conventional FWI,the FWI based on the proposed hybrid gradient can effectively reduce the low-wavenumber components in the gradient under the premise of ensuring inversion *** also greatly enhances the convergence rate and inversion accuracy,especially in the deep part of the *** the field marine seismic data experiment also illustrates that the FWI based on hybrid gradient(HGFWI)has good stability and adaptability.

关键词： Full waveform inversion Hybrid gradient Scattering angle weighted Low-wavenumber component

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Analysis of Tidal Current Energy Potential in the Major Channels of the Bohai Strait Based on Delft3D

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Journal of Ocean University of China 2024年第4期23卷 859-870页

作者： MA Pengcheng SHI Hongyuan xue Huaiyuan LI Pingping sun Yongkang School of Hydraulic Engineering Ludong University of ChinaYantai 264025China Institute of Coastal Research Ludong University of ChinaYantai 264025China Yantai Kekan Marine Technology Co. Ltd.Yantai 264025China

The utilization and development of tidal current energy can help alleviate the current energy shortage,improve the global ecological environment,and maintain sustainable *** this study,numerical simulation is carried out on a rectangular grid using *** tidal current energy potential of the major channels in the Bohai Strait is further simulated and estimated by comparing the simulated and measured *** show that the flow module in Delft3D has good modeling ability for the assessment of tidal current energy *** average flow velocity,maximum flow velocity,and energy flow density are *** Laotieshan Channel,located in the northern part of the Bohai Strait,shows a large tidal current energy *** maximum flow velocity of this channel can reach 2 m s-1,and the maximum energy flow density can exceed 500 W *** tidal current energy in the Laotieshan Channel is more than 10 times that in other ***,this study advocates for the continued exploration and exploitation of the tidal current energy resources in the Laotieshan Channel.

关键词： Delft3D Bohai Strait tidal current energy numerical simulation power density

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