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The pathogenic mechanism of syndactyly type V identified in aHoxd13Q50R knock-in mice

Bone Research 2024年第2期12卷 349-360页

作者： Han Wang Xiumin Chen xiaolu meng Yixuan Cao Shirui Han Keqiang Liu Ximeng Zhao Xiuli Zhao Xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Complex Severe and Rare DiseasesDepartment of Medical GeneticsInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing 100005China Department of Orthopedics State Key Laboratory of Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Sciences&Peking Union Medical CollegeBeijing 100730China

Syndactyly type V (SDTY5) is an autosomal dominant extremity malformation characterized by fusion of the fourth and fifthmetacarpals. In the previous publication, we first identified a heterozygous missense mutation Q50R in homeobox domain (HD) ofHOXD13 in a large Chinese family with SDTY5. In order to substantiate the pathogenicity of the variant and elucidate the underlyingpathogenic mechanism causing limb malformation, transcription-activator-like effector nucleases (TALEN) was employed togenerate a Hoxd13Q50R mutant mouse. The mutant mice exhibited obvious limb malformations including slight brachydactyly andpartial syndactyly between digits 2-4 in the heterozygotes, and severe syndactyly, brachydactyly and polydactyly in *** on BMP2 and SHH/GREM1/AER-FGF epithelial mesenchymal (e-m) feedback, a crucial signal pathway for limbdevelopment, we found the ectopically expressed Shh, Grem1 and Fgf8 and down-regulated Bmp2 in the embryonic limb bud atE10.5 to E12.5. A transcriptome sequencing analysis was conducted on limb buds (LBs) at E11.5, revealing 31 genes that exhibitednotable disparities in mRNA level between the Hoxd13Q50R homozygotes and the wild-type. These genes are known to be involvedin various processes such as limb development, cell proliferation, migration, and apoptosis. Our findings indicate that the ectopicexpression of Shh and Fgf8, in conjunction with the down-regulation of Bmp2, results in a failure of patterning along both theanterior-posterior and proximal-distal axes, as well as a decrease in interdigital programmed cell death (PCD). This cascadeultimately leads to the development of syndactyly and brachydactyly in heterozygous mice, and severe limb malformations inhomozygous mice. These findings suggest that abnormal expression of SHH, FGF8, and BMP2 induced by HOXD13Q50R may beresponsible for the manifestation of human SDTY5.

关键词： BMP2 mechanism finding

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使用Keras构建的神经网络模型对电信网络欺诈识别研究

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软件 2024年第7期45卷 95-97,104页

作者：段雪莹孟小泸吉林警察学院吉林长春130017 长春科技学院吉林长春130600

本研究旨在探究电信网络欺诈识别中深度学习模型的应用。采用基于Keras构建的神经网络模型,对欺诈数据集进行了详细的数据准备和模型设计,并对模型训练方法进行了详细阐述。实验结果表明,本文设计的神经网络模型相较于基准模型,在准确... 详细信息

本研究旨在探究电信网络欺诈识别中深度学习模型的应用。采用基于Keras构建的神经网络模型,对欺诈数据集进行了详细的数据准备和模型设计,并对模型训练方法进行了详细阐述。实验结果表明,本文设计的神经网络模型相较于基准模型,在准确率、精确率、召回率和F1分数等评估指标上均有显著提升,尤其是在处理不平衡数据集时表现更为优异。本研究为电信网络欺诈识别提供了一种有效的深度学习解决方案,为相关领域的进一步研究和实践提供了借鉴。

关键词：电信网络欺诈识别神经网络 Keras框架

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基于CiteSpace的侦查思维研究进展与趋势分析

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警学研究 2024年第1期 82-97页

作者：王春梅成晓忆孟小泸甘肃政法大学甘肃兰州730070 长春科技学院吉林长春130600

为掌握侦查思维研究进展并预测研究趋势,以中国知网(CNKI)学术期刊库2003—2023年收录的侦查思维相关期刊论文为数据基础,运用CiteSpace软件对侦查思维研究进行可视化分析。分析结果显示,侦查思维领域研究进展从时间上看可分为四个时期... 详细信息

为掌握侦查思维研究进展并预测研究趋势,以中国知网(CNKI)学术期刊库2003—2023年收录的侦查思维相关期刊论文为数据基础,运用CiteSpace软件对侦查思维研究进行可视化分析。分析结果显示,侦查思维领域研究进展从时间上看可分为四个时期,即初步探索期、推陈出新期、逐步深入期和持续深入期;从空间上看,刘洪波、马前进侧重研究侦查逻辑思维方法与基本模式,巩寒冰侧重证据法学理论视角下的侦查思维模式,研究热点有传统侦查思维方法、侦查思维变革及侦查思维模式等。反思当前研究现状可见,侦查思维领域的高质量研究成果较少,且现有成果较为分散。因此,未来侦查思维研究应从拓深理论深度、丰富实证研究、整合研究成果形成并完善研究体系等方面进行。

关键词：侦查思维 CiteSpace 时空演进趋势预测

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Identification of novel mutations in EYA3 and EFTUD2 in a family with craniofacial microsomia:evidence of digenic inheritance

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Frontiers of Medicine 2023年第5期17卷 1006-1009页

作者： Nuo Si Guoqin Zhan xiaolu meng Zeya Zhang Xin Huang Bo Pan Plastic Surgery Hospital Peking Union Medical College and Chinese Academy of Medical SciencesBeijing100043China

Dear Editor,Craniofacial microsomia(CFM,MIM#164210)is a congenital malformation involving the first and second branchial arch *** phenotype of CFM is highly variable and typically affects the external ear,middle ear,mandible and temporomandibular joint,and facial muscles on the affected *** by craniofacial anomalies,cardiac,vertebral,and central nervous system defects may *** is considered the minimum diagnostic criterion[1,2].

关键词： ani congenital vertebral

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A Fast Insertion Tabu Search with Conflict-Avoidance Heuristic for the Multisatellite Multimode Crosslink Scheduling Problem

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Tsinghua Science and Technology 2024年第3期29卷 843-862页

作者： Weiyi Yang Lei He xiaolu Liu Weican meng Yingwu Chen College of Systems Engineering National University of Defense TechnologyChangsha 410000China Beijing Institude of Tranking and Telecommunication Technology Beijing 100000China

An agile earth-observing satellite equipped with multimode cameras capable of transmitting observation data to other satellites is developed to rapidly respond to requests with multiple observation *** gives rise to the Multisatellite Multimode Crosslink Scheduling(MMCS)problem,which involves allocating observation requests to agile satellites,selecting appropriate timing and observation modes for the requests,and transmitting the data to the ground station via the satellite communication ***,a mixed integer programming model is introduced to include all complex time and operation *** solve the MMCS problem,a two-stage heuristic method,called Fast insertion Tabu Search with Conflict-avoidance(FTS-C)heuristic,is *** the first stage,a conflict-avoidance insertion algorithm is designed to generate a high-quality initial solution by considering the requests transmission and ***,the tabu search-based second stage optimizes the initial ***,an extensive empirical study based on a real-world situation demonstrates that FTS-C can generate a solution with higher quality in less time than other state-of-the-art algorithms and the CPLEX solver.

关键词： earth observation satellites scheduling tabu search heuristic data transmission and download mixedinteger programming model

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Application of next-generation sequencing to screen for pathogenic mutations in 123 unrelated Chinese patients with Marfan syndrome or a related disease

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Science China(Life Sciences) 2019年第12期62卷 1630-1637页

作者： Jiacheng Li Chaoxia Lu Wei Wu Yaping Liu Rongrong Wang Nuo Si xiaolu meng Shuyang Zhang Xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular BiologyInstitute of Basic Medical SciencesChinese Academy of Medical Science&Peking Union Medical CollegeBeijing 100005China Department of Cardiology Peking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing 100730China Laboratory of Clinical Genetics Peking Union Medical College HospitalChinese Academy of Medical Science&Peking Union Medical CollegeBeijing 100730China

Marfan syndrome(MFS) is a systemic connective tissue disease principally affecting the ocular, skeletal and cardiovascular systems. This autosomal dominant disorder carries a prevalence of 1:3,000 to 1:5,000. This study aims to define the mutational spectrum of MFS related genes in Chinese patients and to establish genotype-phenotype correlations in MFS. Panel-based targeted next-generation sequencing was used to analyze the FBN1, TGFBR1 and TGFBR2 genes in 123 unrelated Chinese individuals with MFS or a related disease. Genotype-phenotype correlation analyses were performed in mutation-positive patients. The results showed that 97 cases/families(78.9%;97/123) harbor at least one(likely) pathogenic mutation, most of which were in FBN1;four patients had TGFBR1/2 mutations;and one patient harbored a SMAD3 mutation. Three patients had two FBN1 mutations, and all patients showed classical MFS phenotypes. Patients with a dominant negative-FBN1 mutation had a higher prevalence of ectopia lentis(EL). Patients carrying a haploinsufficiency-FBN1 mutation tended to have aortic dissection without EL. This study extends the spectrum of genetic backgrounds of MFS and enriches our knowledge of genotype-phenotype correlations.

关键词： Marfan syndrome FBN1 mutation next-generation sequencing genotype-phenotype correlations

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Enhancement of Aggression Induced by Isolation Rearing is Associated with a Lack of Central Serotonin

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Neuroscience Bulletin 2019年第5期35卷 841-852页

作者： Yiqiong Liu Yunong Sun Xiaoyan Zhao Ji-Young Kim Lu Luo Qian Wang xiaolu meng Yonghui Li Nan Sui Zhou-Feng Chen Chuxiong Pan Liang Li Yan Zhang State Key Laboratory of Membrane Biology College of Life Sciences Peking University Beijing 100871 China Department of Anesthesiology Beijing Tongren Hospital Capital Medical University Beijing 100005 China Department of Anesthesiology Department of Psychiatry Department of Developmental Biology Center for the Study of Itch Washington University School of Medicine Saint Louis MO 63110 USA School of Psychological and Cognitive Sciences Beijing Key Laboratory of Behavior and Mental Health Peking University Beijing 100871 China Beijing Institute for Brain Disorders Beijing 100069 China Key Laboratory of Mental Health Institute of Psychology Chinese Academy of Sciences Beijing 100101 China Hendrix College Conway AR 72032 USA PKU-IDG/McGovern Institute for Brain Research Beijing 100871 China

Isolation rearing(IR) enhances aggressive behavior, and the central serotonin(5-hydroxytryptamine,5-HT) system has been linked to IR-induced ***, whether the alteration of central serotonin is the cause or consequence of enhanced aggression is still unknown. In the present study, using mice deficient in central serotonin Tph2-/-and Lmx1 b-/-, we examined the association between central serotonin and aggression with or without social isolation. We demonstrated that central serotonergic neurons are critical for the enhanced aggression after IR. 5-HT depletion in wild-type mice increased aggression. On the other hand, application of 5-HT in Lmx1 b-/-mice inhibited the enhancement of aggression under social isolation conditions. Dopamine was downregulated in Lmx1 b-/-mice. Similar to 5-HT, L-DOPA decreased aggression in Lmx1 b-/-mice. Our results linkthe serotoninergic system directly to aggression and this may have clinical implications for aggression-related human conditions.

关键词： 5-HT Aggression Social isolation Dopamine Lmx1b

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Review on the design of high-strength and hydrogen-embrittlement-resistant steels

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International Journal of Minerals,Metallurgy and Materials 2024年第7期31卷 1572-1589页

作者： Zhiyu Du Rongjian Shi Xingyu Peng Kewei Gao xiaolu Pang Beijing Advanced Innovation Center for Materials Genome Engineering School of Materials Science and EngineeringUniversity of Science and Technology BeijingBeijing 100083China Institute for Materials Intelligent Technology Liaoning Academy of MaterialsShenyang 110010China

Given the carbon peak and carbon neutrality era,there is an urgent need to develop high-strength steel with remarkable hydrogen embrittlement *** is crucial in enhancing toughness and ensuring the utilization of hydrogen in emerging iron and steel ***,the pursuit of enhanced metallic materials presents a cross-disciplinary scientific and engineering *** high-strength,toughened steel with both enhanced strength and hydrogen embrittlement(HE)resistance holds significant theoretical and practical *** ensures secure hydrogen utilization and further carbon neutrality objectives within the iron and steel *** on the design principles of high-strength steel HE resistance,this review provides a comprehensive overview of research on designing surface HE resistance and employing nanosized precipitates as intragranular hydrogen *** also proposes feasible recommendations and prospects for designing high-strength steel with enhanced HE resistance.

关键词： hydrogen embrittlement surface design hydrogen traps nanosized precipitates

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Rare earth fluorescent nanoprobes with minimal side effects enable tumor microenvironment activation for chemotherapy

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Journal of Rare Earths 2024年第2期42卷 256-262,I0001页

作者： Tianqi Cao Yuxin Liu Qi Jia xiaolu Wang Shouqiang Zhang Jing Zhou Department of Chemistry Capital Normal UniversityBeijing100048China

Chemotherapy,the use of antitumor drugs to kill cancer cells,is currently one of the most effective treatments for ***,serious toxic side effects caused by long-term drug accumulation can cause significant damage to the body,which limits the clinical application of antitumor *** this study,a novel RENPs@DOX-Fe nanoprobe(NP) was constructed by coating the surface of rare earth nanomaterials(NaLuF_(4):Yb,Er) with a complex formed by doxorubicin(DOX) and iron ion(Ⅲ).Due to the low toxicity of anthracycline-metal complexes,the damage to normal cells is *** unique acidic microenvironment in tumor cells facilitates the decomposition and gradual release of DOX from the DOX-Fe *** addition,the DOX-Fe complex can convert near-infrared(NIR) light into heat energy,which promotes the decomposition of the complex,further enhancing the release of DOX in the tumor *** change of ratio fluorescence of rare earth nanomaterials at 660 and 1550 nm after DOX release enables visual monitoring of drug release,which can potentially improve the chemotherapeutic *** vitro experiments established that RENPs@DOX-Fe NPs with NIR illumination had good therapeutic efficacy in *** work provides new insights into designing tumor microenvironment-responsive nanoprobes for chemotherapy with minimal side effects.

关键词： Rare earth nanoprobes Fluorescence Ratiometric imaging DOX Chemotherapy

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Screening biomarkers for spinal cord injury using weighted gene co-expression network analysis and machine learning

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Neural Regeneration Research 2024年第12期19卷 2723-2734页

作者： xiaolu Li Ye Yang Senming Xu Yuchang Gui Jianmin Chen Jianwen Xu Department of Rehabilitation Medicine The First Affiliated Hospital of Guangxi Medical UniversityNanningGuangxi Zhuang Autonomous RegionChina Department of Rehabilitation Medicine Guilin People’s HospitalGuilinGuangxi Zhuang Autonomous RegionChina Department of Rehabilitation Medicine The First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian ProvinceChina

Immune changes and inflammatory responses have been identified as central events in the pathological process of spinal co rd *** can greatly affect nerve regeneration and functional ***,there is still limited understanding of the peripheral immune inflammato ry response in spinal cord inju *** this *** obtained microRNA expression profiles from the peripheral blood of patients with spinal co rd injury using high-throughput *** also obtained the mRNA expression profile of spinal cord injury patients from the Gene Expression Omnibus(GEO)database(GSE151371).We identified 54 differentially expressed microRNAs and 1656 diffe rentially expressed genes using bioinformatics *** enrichment analysis revealed that various common immune and inflammation-related signaling pathways,such as neutrophil extracellular trap formation pathway,T cell receptor signaling pathway,and nuclear factor-κB signal pathway,we re abnormally activated or inhibited in spinal cord inju ry patient *** applied an integrated strategy that combines weighted gene co-expression network analysis,LASSO logistic regression,and SVM-RFE algorithm and identified three biomarke rs associated with spinal cord injury:ANO10,BST1,and *** verified the expression levels and diagnostic perfo rmance of these three genes in the original training dataset and clinical samples through the receiver operating characteristic *** polymerase chain reaction results showed that ANO20 and BST1 mRNA levels were increased and ZFP36L2 mRNA was decreased in the peripheral blood of spinal cord injury *** also constructed a small RNA-mRNA interaction network using ***,we evaluated the proportion of 22 types of immune cells in the peripheral blood of spinal co rd injury patients using the CIBERSORT *** proportions of naive B cells,plasma cells,monocytes,and neutrophils were increased while the proportions of memory B cells,C

关键词： bioinformatics analysis biomarker CIBERSORT GEO dataset LASSO miRNA-mRNA network RNA sequencing spinal cord injury SVM-RFE weighted gene co-expression network analysis

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