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STCF conceptual design report (Volume 1): Physics & detector

Frontiers of physics 2024年第1期19卷 1-154页

作者： M.Achasov X.C.Ai L.P.An R.Aliberti Q.An X.Z.Bai Y.Bai O.Bakina A.Barnyakov V.Blinov V.Bobrovnikov D.Bodrov A.Bogomyagkov A.Bondar I.Boyko Z.H.Bu F.M.Cai H.Cai j.j.Cao Q.H.Cao X.Cao Z.Cao Q.Chang K.T.Chao D.Y.Chen H.Chen H.X.Chen j.F.Chen K.Chen L.L.Chen P.Chen S.L.Chen S.M.Chen S.Chen S.P.Chen W.Chen X.Chen X.F.Chen X.R.Chen Y.Chen Y.Q.Chen H.Y.Cheng j.Cheng S.Cheng T.G.Cheng j.P.Dai L.Y.Dai X.C.Dai D.Dedovich A.Denig I.Denisenko j.M.Dias D.Z.Ding L.Y.Dong W.H.Dong V.Druzhinin D.S.Du Y.j.Du Z.G.Du L.M.Duan D.Epifanov Y.L.Fan S.S.Fang Z.j.Fang G.Fedotovich C.Q.Feng X.Feng Y.T.Feng j.L.Fu j.Gao Y.n.Gao P.S.Ge C.Q.Geng L.S.Geng A.Gilman L.Gong T.Gong B.Gou W.Gradl j.L.Gu A.Guevara L.C.Gui A.Q.Guo F.K.Guo j.C.Guo j.Guo Y.P.Guo Z.H.Guo A.Guskov K.L.Han L.Han M.Han X.Q.Hao j.B.He S.Q.He X.G.He Y.L.He Z.B.He Z.X.Heng B.L.Hou T.j.Hou Y.R.Hou C.Y.Hu H.M.Hu K.Hu R.j.Hu W.H.Hu X.H.Hu Y.C.Hu j.Hua G.S.Huang j.S.Huang M.Huang Q.Y.Huang W.Q.Huang X.T.Huang X.j.Huang Y.B.Huang Y.S.Huang n.Hüsken V.Ivanov Q.P.ji j.j.jia S.jia Z.K.jia H.B.jiang j.jiang S.Z.jiang j.B.jiao Z.jiao H.j.jing X.L.Kang X.S.Kang B.C.Ke M.Kenzie A.Khoukaz I.Koop E.Kravchenko A.Kuzmin Y.Lei E.Levichev C.H.Li C.Li D.Y.Li F.Li G.Li G.Li H.B.Li H.Li H.n.Li H.j.Li H.L.Li j.M.Li j.Li L.Li L.Li L.Y.Li n.Li P.R.Li R.H.Li S.Li T.Li W.j.Li X.Li X.H.Li X.Q.Li X.H.Li Y.Li Y.Y.Li Z.j.Li H.Liang j.H.Liang Y.T.Liang G.R.Liao L.Z.Liao Y.Liao C.X.Lin D.X.Lin X.S.Lin B.j.Liu C.W.Liu D.Liu F.Liu G.M.Liu H.B.Liu j.Liu j.j.Liu j.B.Liu K.Liu K.Y.Liu K.Liu L.Liu Q.Liu S.B.Liu T.Liu X.Liu Y.W.Liu Y.Liu Y.L.Liu Z.Q.Liu Z.Y.Liu Z.W.Liu I.Logashenko Y.Long C.G.Lu j.X.Lu n.Lu Q.F.Lü Y.Lu Y.Lu Z.Lu P.Lukin F.j.Luo T.Luo X.F.Luo Y.H.Luo H.j.Lyu X.R.Lyu j.P.Ma P.Ma Y.Ma Y.M.Ma F.Maas S.Malde D.Matvienko Z.X.Meng R.Mitchell A.nefediev Y.nefedov S.L.Olsen Q.Ouyang P.Pakhlov G.Pakhlova X.Pan Y.Pan E.Passemar Y.P.Pei H.P.Peng L.Peng X.Y.Peng X.j.Peng K.Peters S.Pivovarov E.Pyata B.B.Qi Y.Q.Qi W.B.Qian Y.Qian C.F.Qiao j.j.Qin j.j.Qin L.Q.Qin X.S.Qin T.L.Qiu j.Rademacker C.F.Redmer H.Y.Sang Anhui University Hefei 230039China Beihang University Beijing 100191China Budker Institute of nuclear Physics Novosibirsk 630090Russia CAS Key Laboratory of Theoretical Physics Institute of Theoretical PhysicsChinese Academy of SciencesBeijing 100190China Cavendish Laboratory University of CambridgeJJ Thomson AveCambridge CB30HEUnited Kingdom Central China normal University Wuhan 430079China Central South University Changsha 410083China China University of Geosciences Wuhan 430074China China University of Mining and Technology Xuzhou 221116China École Polytechnique Fédérale de Lausanne(EPFL) LausanneSwitzerland Fudan University Shanghai 200433China Goethe University Frankfurt D-60325 Frankfurt am MainGermany Guangxi normal University Guilin 541004China Guangxi Uninversity Nanning 530004China Hangzhou Institute for Advanced Study UCASHangzhou 310024China Hebei normal University Shijiazhuang 050024China Hebei University Baoding 071002China Hefei University of Technology Hefei 230601China Helmholtz Institute Mainz Staudinger Weg 18D-55099 MainzGermany Henan normal University Xinxiang 453007China Henan University Kaifeng 475004China High Energy Physics Center Chung-Ang UniversitySeoul 06974Korea Higher School of Economy 11 Pokrovsky Bulvar Moscow 109028Russia Huangshan University Huangshan 245000China Hubei University of Automotive Technology Shiyan 442002China Hunan normal University Changsha 410081China Hunan University of Science and Technology Xiangtan 411201China Hunan University Changsha 410082China Indiana University BloomingtonIndiana 47405USA Inner Mongolia University Hohhot 010021China Institute of Advanced Science Facilities Shenzhen 518107China Institute of High Energy Physics Chinese Academy of SciencesBeijing 100049China Institute of Modern Physics Chinese Academy of SciencesLanzhou 730000China Institute of Physics Academia SinicaTaipeiTaiwan 11529China Institute of Theoretical Physics Chinese Academy of SciencesBeijing 100190China jilin University Changch

The superτ-charm facility(STCF)is an electron–positron collider proposed by the Chinese particle physics *** is designed to operate in a center-of-mass energy range from 2 to 7 GeV with a peak luminosity of 0.5×10^(35) cm^(–2)·s^(–1) or *** STCF will produce a data sample about a factor of 100 larger than that of the presentτ-charm factory—the BEPCII,providing a unique platform for exploring the asymmetry of matter-antimatter(charge-parity violation),in-depth studies of the internal structure of hadrons and the nature of non-perturbative strong interactions,as well as searching for exotic hadrons and physics beyond the Standard *** STCF project in China is under development with an extensive R&D *** document presents the physics opportunities at the STCF,describes conceptual designs of the STCF detector system,and discusses future plans for detector R&D and physics case studies.

关键词： electron–positron collider tau-charm region high luminosity STCF detector conceptual design

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非最小相位法向电磁应力驱动快速刀具伺服系统轨迹跟踪控制

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南京理工大学学报 2024年第4期48卷 415-421,468页

作者：沈东冉朱紫辉黄鹏朱利民朱志伟南京理工大学机械工程学院江苏南京210094 上海交通大学机械与动力工程学院上海200240

基于快速刀具伺服(FTS)的金刚石车削是复杂光学表面超精密制造的一种高效手段。为进一步提高具有非最小相位特征的电磁法应力驱动FTS的控制性能,将系统逆动力学补偿嵌入主控制回路中以改善被控对象动力学特征。对改善后的被控系统以比... 详细信息

基于快速刀具伺服(FTS)的金刚石车削是复杂光学表面超精密制造的一种高效手段。为进一步提高具有非最小相位特征的电磁法应力驱动FTS的控制性能,将系统逆动力学补偿嵌入主控制回路中以改善被控对象动力学特征。对改善后的被控系统以比例微分积分(PID)和前馈补偿作为主控制器,并以基于内模原理的并联谐振控制器实现周期性轨迹的超高精度跟踪。考虑系统非最小相位特征,结合因子分解和镜像极点配置方法获得了系统稳定逆动力学模型。实验测试结果表明:该文所设计的控制方法,获得了1070 Hz(-3 dB)闭环带宽;100 Hz正弦轨迹实际跟踪误差小于±0.375%,并可对5 nm台阶轨迹进行稳定闭环跟踪,证明所设计的FTS控制系统可有效实现nm精度切削。

关键词：快速刀具伺服法向电磁应力驱动非最小相位系统逆动力学补偿谐振控制

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Association between glucose levels of children with type 1 diabetes and parental economic status in mobile health application

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World journal of Diabetes 2024年第7期15卷 1477-1488页

作者： Wen-Hao Zhang Chao-Fan Wang Hao Wang jie Tang Hong-Qiang Zhang jiang-Yu zhu Xue-Ying Zheng Si-Hui Luo Yu Ding Department of Endocrinology The First Affiliated Hospital of University of Science and Technology of ChinaDivision of Life Sciences and MedicineUniversity of Science and Technology of ChinaHefei 230001Anhui ProvinceChina Department of Endocrinology and Metabolism The Third Affiliated Hospital of Sun Yat-sen UniversityGuangdong Provincial Key Laboratory of DiabetologyGuangzhou 510000Guangdong ProvinceChina Graduate School Bengbu Medical CollegeBengbu 233000Anhui ProvinceChina

BACKGROUnD The glycemic control of children with type 1 diabetes(T1D)may be influenced by the economic status of their *** To investigate the association between parental economic status and blood glucose levels of children with T1D using a mobile health *** Data from children with T1D in China's largest T1D online community,Tang-TangQuan■.Blood glucose levels were uploaded every three months and parental economic status was evaluated based on annual household *** were divided into three groups:Low-income(n),middle-income(30000-100000 Yuan),and high-income(>100000 yuan)(1 Yuan=0.145 United States Dollar approximately).Blood glucose levels were compared among the groups and associations were explored using Spearman’s correlation analysis and multivariable logistic *** From September 2015 to August 2022,1406 eligible children with T1D were included(779 female,55.4%).Median age was 8.1 years(Q1-Q3:4.6-11.6)and duration of T1D was 0.06 years(0.02-0.44).Participants were divided into three groups:Low-income(n=320),middle-income(n=724),and high-income(n=362).Baseline hemoglobin A1c(HbA1c)levels were comparable among the three groups(P=0.072).However,at month 36,the low-income group had the highest HbA1c levels(P=0.036).Within three years after registration,glucose levels increased significantly in the low-income group but not in the middle-income and high-income *** economic status was negatively correlated with pre-dinner glucose(r=-0.272,P=0.012).After adjustment for confounders,parental economic status remained a significant factor related to pre-dinner glucose levels(odds ratio=13.02,95%CI:1.99 to 126.05,P=0.002).COnCLUSIOn The blood glucose levels of children with T1D were negatively associated with parental economic *** is suggested that parental economic status should be taken into consideration in the management of T1D for children.

关键词： Type 1 diabetes Children and adolescents Glycemic control Economic status Mobile health application

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The multi-kingdom microbiome catalog of the chicken gastrointestinal tract

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Biosafety and Health 2024年第2期6卷 101-115页

作者： Yanan Wang Mengqi Qu Yuhai Bi William j.Liu Sufang Ma Bo Wan Yongfei Hu Baoli zhu Gaiping Zhang George F.Gao International joint Research Center of national Animal Immunology College of Veterinary MedicineHenan Agricultural UniversityZhengzhou 450046China CAS Key Laboratory of Pathogen Microbiology and Immunology Institute of MicrobiologyChinese Academy of Sciences(CAS)Beijing 100101China Longhu Laboratory Zhengzhou 450046China University of Chinese Academy of Sciences Beijing 100049China nHC Key Laboratory of Biosafety National Institute for Viral Disease Control and PreventionChinese Center for Disease Control and PreventionBeijing 102206China State Key Laboratory of Animal nutrition and Feeding College of Animal Science and TechnologyChina Agricultural UniversityBeijing 100193China

Chicken is an important food animal worldwide and plays an important role in human life by providing meat and *** recent significant advances in gut microbiome studies,a comprehensive study of chicken gut bacterial,archaeal,and viral genomes remains *** this study,we constructed a chicken multi-kingdom microbiome catalog(CMKMC),including 18,201 bacterial,225 archaeal,and 33,411 viral genomes,and annotated over 6,076,006 protein-coding genes by integrating 135 chicken gut metagenomes and publicly available metagenome-assembled genomes(MAGs)from ten *** found that 812 and 240 MAGs in our dataset were putative novel species and genera,respectively,far beyond what was previously *** newly unclassified MAGs were predominant in Phyla Firmicutes_A(n=263),followed by Firmicutes(n=126),Bacteroidota(n=121),and Proteobacteria(n=87).Most of the classified species-level viral oper-ational taxonomic units belong to ***,63.24%of chicken gut viromes are predicted to infect two or more hosts,including complete circular ***,we found that diverse auxiliary metabolic genes and antibiotic resistance genes were carried by ***,our CMKMC provides the largest integrated MAGs and viral genomes from the chicken gut to date,functional insights into the chicken gastrointestinal tract microbiota,and paves the way for microbial interventions for better chicken health and productivity.

关键词： Chicken Microbiome Metagenome assembled genomes Archaeome Virome Antibiotic resistance gene

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轴心射流收油环内部油气流动特性的数值模拟研究

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推进技术 2024年第2期45卷 63-72页

作者：朱泽韬吕亚国朱鹏飞姜乐刘振侠西北工业大学动力与能源学院陕西西安710129

为研究环下润滑结构内部油膜迁移及流动特性,针对轴心射流收油环采用VOF (Volume of fluid)方法开展了数值计算,获得了收油环端面油膜动态形成过程,在分析流场特征的基础上,讨论了收油环运转工况及结构参数对内部油膜形态、滑油体积分... 详细信息

为研究环下润滑结构内部油膜迁移及流动特性,针对轴心射流收油环采用VOF (Volume of fluid)方法开展了数值计算,获得了收油环端面油膜动态形成过程,在分析流场特征的基础上,讨论了收油环运转工况及结构参数对内部油膜形态、滑油体积分数、油膜速度和供油孔输油能力的影响规律。结果表明:收油环端面油膜呈圆盘状迁移,边缘破碎形成油滴、油带甩至侧壁面,在供油孔内以“月牙形”分布加速流动,收油环端面油膜厚度随主轴转速增大而减小,随喷嘴流量上升而增加;提高转速降低了供油孔内滑油含量,使孔内油膜加速流动,孔内滑油含量随喷嘴流量的上升而增大,随供油孔径的增加而下降;喷嘴流量与供油孔径的改变对孔内流速影响较小;增加孔径与提高收油环转速可加强供油孔输运能力,8 kr/min下提高喷嘴流量使无量纲输油量Cq平均降低了40.71%,提高孔径使Cq最大提高了57.14%,转速的增加使Cq平均增加25.87%。

关键词：环下润滑收油环轴心射流两相流动特性 VOF方法

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富春江水库浮游植物功能群变化的成因

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环境科学 2024年第1期45卷 181-193页

作者：张萍王炜朱梦圆国超旋邹伟许海朱广伟中国科学院南京地理与湖泊研究所湖泊与环境国家重点实验室南京210008 杭州市生态环境局淳安分局杭州311700

为探究富春江水库浮游植物群落结构的演替特征、水华风险机制及关键影响因素,分别于2020年8月和11月与2021年1月和4月在富春江库区及上下游11个断面采样分析浮游植物、浮游动物群落结构及相关理化指标,对浮游植物进行功能群(FG)分类,并... 详细信息

为探究富春江水库浮游植物群落结构的演替特征、水华风险机制及关键影响因素,分别于2020年8月和11月与2021年1月和4月在富春江库区及上下游11个断面采样分析浮游植物、浮游动物群落结构及相关理化指标,对浮游植物进行功能群(FG)分类,并应用非度量多维尺度分析(nMDS)和冗余分析(RDA)等统计方法探讨功能群变化的影响因素.结果发现,富春江水库浮游植物可分为18个功能类群,其中10个为优势类群;功能群的组成存在显著时空差异:空间上,库区上游江段主要以小环藻(Cyclotella)为代表的C类群和以沟链藻(Aulacoseira)为代表的P类群占优,与该江段中富营养混合水体的环境特征相符;富春江库区仍以P类群为主,但沿程优势度逐渐减小;库区下游江段MP类群逐渐占优,且在钱塘江口占据绝对优势,反映了感潮河流扰动频繁、浊度较高的环境特征;季节上,夏季功能群类型最为丰富,为P+L0+j+M+S1+H1+MP型,除了全年都占优的沟链藻为代表的P类群,还包括多个以蓝藻和绿藻为代表的类群,反映出生境多变、生产力旺盛的水环境特征;秋季演替以长孢藻(Dolichospermum)为代表的H1类群占优,总体为P+H1,反映了水量减少、流态趋于静止的水环境特征;冬季小环藻的突增,C类群占据优势,总体为P+C,反映出换水减弱、富营养化加剧的环境条件变化;而春季类群又逐渐丰富,为C+D+P+MP,也反映出降雨增多、气温升高引起的河流生境多变的环境背景特征.根据C-R-S生长策略分析,R策略类群是富春江水库浮游植物的主导类群,与富春江流域各江段高干扰、低胁迫的总体生境特征吻合.RDA分析表明,水温、浮游动物生物量、高锰酸盐指数、流量、总氮和总磷与浮游植物功能群组成显著相关(P<0.05),温度和流态是影响富春江水库浮游植物功能群时空差异的主导因素,浮游动物是影响浮游植物功能群时空差异的关键因素.研究表明,水文气象过程对富春江流域浮游植物群落结构影响至关重要,夏季高温季节流态变化可能是诱发富春江库区蓝藻水华的关键因子;降低藻类水华的风险,应在河流氮磷负荷控制的基础上,充分考虑水利调度的协同控制.

关键词：浮游植物功能群流态气温河流型水库浮游动物

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Spin Evolution of the Magnetar SGR j1935+2154

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Research in Astronomy and Astrophysics 2024年第1期24卷 201-211页

作者： Ming-Yu Ge Yuan-Pei Yang Fang-jun Lu Shi-Qi Zhou Long ji Shuang-nan Zhang Bing Zhang Liang Zhang Pei Wang Kejia Lee Weiwei zhu jian Li Xian Hou Qiao-Chu Li Key Laboratory of Particle Astrophysics Institute of High Energy PhysicsChinese Academy of SciencesBeijing 100049China South-Western Institute For Astronomy Research Yunnan UniversityKunming 650504China Purple Mountain Observatory Chinese Academy of SciencesNanjing 210023China Key Laboratory of Stellar and Interstellar Physics and School of Physics and Optoelectronics Xiangtan UniversityXiangtan 411105China School of Physics and Astronomy Sun Yat-Sen UniversityZhuhai 519082China University of Chinese Academy of Sciences Chinese Academy of SciencesBeijing 100049China nevada Center for Astrophysics University of NevadaLas VegasNV 89154USA Department of Physics and Astronomy University of NevadaLas VegasNV 89154USA national Astronomical Observatories Chinese Academy of SciencesBeijing 100101China Department of Astronomy Peking UniversityBeijing 100871China CAS Key Laboratory for Research in Galaxies and Cosmology Department of AstronomyUniversity of Science and Technology of ChinaHefei 230026China School of Astronomy and Space Science University of Science and Technology of ChinaHefei 230026China Yunnan Observatories Chinese Academy of SciencesKunming 650216China School of Astronomy and Space Science Nanjing UniversityNanjing 210023China Key laboratory of Modern Astronomy and Astrophysics Nanjing UniversityNanjing 210023China

Fast radio bursts(FRBs)are short pulses observed in radio frequencies usually originating from cosmological *** discovery of FRB 200428 and its X-ray counterpart from the Galactic magnetar SGR j1935+2154suggests that at least some FRBs can be generated by ***,the majority of X-ray bursts from magnetars are not associated with radio *** fact that only in rare cases can an FRB be generated raises the question regarding the special triggering mechanism of *** we report long time spin evolution of SGR j1935+2154 until the end of *** to v and v,the spin evolution of SGR j1935+2154 could be divided into two *** first stage evolves relatively steady evolution until 2020 April *** the burst activity in2020,the spin of SGR j1935+2154 shows strong variations,especially for *** the burst activity in 2022October,a new spin-down glitch with△v/v=(-7.2±0.6)×10^(-6)is detected around MjD 59876,which is the second event in SGR j1935+*** the end,spin frequency and pulse profile do not show variations around the time of FRB 200428 and radio bursts 221014 and 221021,which supply strong clues to constrain the trigger mechanism of FRBs or radio bursts.

关键词： (stars:)pulsars:general (stars:)pulsars:individual(SGR j1935+2154) X-rays:bursts

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Distributed fixed-time observers for linear time-invariant systems

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Kongzhi yu juece/Control and Decision 2024年第11期39卷 3664-3672页

作者： Zhang T. Wu H.-Y. zhu Z.-H. Zheng X.-j. Guan Z.-H. Engineering Research Center for Metallurgical Automation and Measurement Technology of Ministry of Education Wuhan University of Science and Technology Wuhan 430081 China Institute of Robotics and Intelligent Systems Wuhan University of Science and Technology Wuhan 430081 China School of Artificial Intelligence and Automation Huazhong University of Science and Technology Wuhan 430074 China

A class of distributed fixed-time convergent observers is designed based on the bi-limit weighted homogeneous approximation theory and observability decomposition for the distributed state estimation of linear time-invariant systems. Firstly, for a single-input-single-output integrating chain system, a centralized fixed-time observer is designed for the system using bi-limit weighted homogeneous estimation. Then, the linear time-invariant system is decomposed into observable and unobservable subsystems based on the observability decomposition. Each agent in the sensor network reconstructs local observable sub-states in a fixed time based on the centralized observer by using only the system output measurements, and then state information between the agents is used to construct a consistent algorithm to estimate the local unobservable sub-states in a fixed time, thus realizing state omniscience in a fixed time. Unlike previous works, this paper does not need to construct a specific Lyapunov function to give an expression for the convergence time. Finally, the effectiveness of the designed observer is verified by simulations. © 2024 northeast University. All rights reserved.

关键词： distributed estimation fixed-time observer linear systems observability decomposition sensor networks weighted homogeneity

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Comparative transcriptomic analysis reveals the molecular changes of acute pancreatitis in experimental models

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World journal of Gastroenterology 2024年第14期30卷 2038-2058页

作者： Pan Zheng Xue-Yang Li Xiao-Yu Yang Huan Wang Ling Ding Cong He jian-Hua Wan Hua-jing Ke nong-Hua Lu nian-Shuang Li Yin zhu Department of Gastroenterology Digestive Disease HospitalThe First Affiliated HospitalJiangxi Medical CollegeNanchang UniversityNanchang 330006Jiangxi ProvinceChina

BACKGROUnD Acute pancreatitis(AP)encompasses a spectrum of pancreatic inflammatory conditions,ranging from mild inflammation to severe pancreatic necrosis and multisystem organ *** the challenges associated with obtaining human pancreatic samples,research on AP predominantly relies on animal *** this study,we aimed to elucidate the fundamental molecular mechanisms underlying AP using various AP *** To investigate the shared molecular changes underlying the development of AP across varying severity *** AP was induced in animal models through treatment with caerulein alone or in combination with lipopolysaccharide(LPS).Additionally,using Ptf1αto drive the specific expression of the hM3 promoter in pancreatic acinar cells transgenic C57BL/6j-hM3/Ptf1α(cre)mice were administered Clozapine n-oxide to induce ***,we conducted RnA sequencing of pancreatic tissues and validated the expression of significantly different genes using the Gene Expression Omnibus(GEO)*** Caerulein-induced AP showed severe inflammation and edema,which were exacerbated when combined with LPS and accompanied by partial pancreatic tissue *** with the control group,RnA sequencing analysis revealed 880 significantly differentially expressed genes in the caerulein model and 885 in the caerulein combined with the LPS *** Encyclopedia of Genes and Genomes enrichment analysis and Gene Set Enrichment Analysis indicated substantial enrichment of the TLR and nOD-like receptor signaling pathway,TLR signaling pathway,and nF-κB signaling pathway,alongside elevated levels of apoptosis-related pathways,such as apoptosis,P53 pathway,and phagosome *** significantly elevated genes in the TLR and nOD-like receptor signaling pathways,as well as in the apoptosis pathway,were validated through quantitative real-time PCR experiments in animal *** from the GEO database revealed that only MYD88 concurred in both mouse panc

关键词： Acute pancreatitis RnA-sequencing Experimental acute pancreatitis models Inflammatory Apoptosis TLR and nOD-like signaling pathways

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Abnormal function of EPHA2/p.R957P mutant in congenital cataract

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International journal of Ophthalmology(English edition) 2024年第6期17卷 1007-1017页

作者： jing-jin Zhang Zong-Fu Cao Bi-Ting Zhou ju-Hua Yang Zhong Li Shuang Lin Xiao-Le Chen nan-Wen Zhang Qin Ye Xu Ma Yi-Hua zhu Department of Ophthalmology the First Affiliated Hospital of Fujian Medical UniversityFujian Institute of OphthalmologyFujian Provincial Clinical Medical Research Center of Eye Diseases and OptometryFuzhou 350005Fujian ProvinceChina Department of Ophthalmology National Regional Medical CenterBinhai Campus of the First Affiliated HospitalFujian Medical UniversityFuzhou 350005Fujian ProvinceChina Chinese Academy of Medical Sciences&Peking Union Medical College Beijing 100000China national Human Genetic Resources Center National Research Institute for Family PlanningBeijing 100081China Department of Bioengineering and Biopharmaceutics School of PharmacyFujian Medical UniversityFuzhou 350004Fujian ProvinceChina

AIM:To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the ***:A four-generation Chinese family affected with autosomal dominant congenital cataract was *** individuals took part in this study including 5 affected and 14 unaffected *** sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant *** pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar *** microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2(EPHA2).Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane *** mRnA and protein expression were analyzed by reverse transcription-polymerase chain reaction(qRT-PCR)and Western blotting assay,*** cell migration was analyzed by wound healing *** model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in ***:A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif(SAM)domain of *** studies demonstrated the variant’s impact:reduced EPHA2 protein expression,altered subcellular localization,and disrupted interactions with other lens membrane *** mutant notably enhanced human lens epithelial cell migration,and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast(DIC)***:novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.

关键词： congenital cataract EPHA2 missense variant function analysis

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