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Identification of a novel MYO1D variant associated with laterality defects,congenital heart diseases,and sperm defects in humans

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Frontiers of Medicine 2024年第3期18卷 558-564页

作者： Zhuangzhuang Yuan Xin Zhu Xiaohui Xie Chenyu Wang Heng Gu Junlin Yang Liangliang Fan Rong Xiang Yifeng Yang zhiping tan Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityChangsha410011China Clinical Center for Gene Diagnosis and Therapy The Second Xiangya Hospital of Central South UniversityChangsha410011China Department of Cell Biology School of Life SciencesCentral South UniversityChangsha410013China Department of Gynecology and Obstetrics Xiangya Hospital of Central South UniversityChangsha410008China

The establishment of left–right asymmetry is a fundamental process in animal *** with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral *** patients with laterality defects,congenital heart diseases(CHD)are *** multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality *** study investigated over a hundred cases and identified a novel biallelic variant of MYO1D(NM_015194:c.1531G>A;p.D511N)in a consanguineous family with complex CHD and laterality *** examination of the proband revealed asthenoteratozoospermia and shortened ***,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293C>T;p.P765S)were *** assessment showed that both enhance the interaction withβ-actin and ***,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in ***,this research established a connection between sperm defects and MYO1D *** offers guidance for exploring infertility and reproductive health *** findings provide a critical basis for advancing personalized medicine and genetic counseling.

关键词： MYO1D laterality defect congenital heart disease sperm defect β-actin SPAG6

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A novel mutation of glycogen synthase kinase-3β leads to a reduced level of GSK3βprotein in a patient with dilated cardiomyopathy

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Genes & Diseases 2024年第1期11卷 84-86页

作者： Ke Gong zhiping tan Haidan Liu Xiaobo Liao Xinmin Zhou Bangliang Yin Shi Zeng Yao Yao Yifeng Yang Li Xie Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan410011China Department of Ultrasound The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan 410011China Department of Blood Transfusion The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangshaHunan 410011China

Dilated cardiomyopathy(DCM)is a frequently inherited heart condition.A familial transmission rate of 20%-35%has been documented,and most of these cases are autosomal *** condition has a high rate of morbidity and mort... 详细信息

关键词： GSK3β cardiomyopathy mortality

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给药人工耳蜗植入体的研究进展

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听力学及言语疾病杂志 2024年第4期32卷 368-374页

作者：王金剑胡材卡谭治平项丽阳韩彦杨典周道民浙江诺尔康神经电子科技股份有限公司杭州311121 浙江省神经电子与脑机接口技术重点实验室

内耳病的治疗正朝向局部靶向给药的方向发展,以避免全身给药的诸多缺陷。具有给药功能的人工耳蜗植入体作为新一代的内耳局部给药途径,是近年来的研究热点。本文就不同类型的给药人工耳蜗的特性、产品开发及应用方面的研究进展进行综述。

关键词：人工耳蜗药械组合药物洗脱药液递送

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

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Frontiers of Medicine 2023年第5期17卷 957-971页

作者： Rongchun Wang Danhui Yang Chaofeng Tu Cheng Lei Shuizi Ding Ting Guo Lin Wang Ying Liu Chenyang Lu Binyi Yang Shi Ouyang Ke Gong zhiping tan Yun Deng Yueqiu tan Jie Qing Hong Luo Department of Pulmonary and Critical Care Medicine The Second Xiangya Hospital of Central South UniversityChangsha410011China Research Unit of Respiratory Disease Central South UniversityChangsha410011China Hunan Diagnosis and Treatment Center of Respiratory Disease Changsha410011China Institute of Reproductive and Stem Cell Engineering NHC Key Laboratory of Human Stem Cell and Reproductive EngineeringSchool of Basic Medical ScienceCentral South UniversityChangsha410078China Clinical Research Center for Reproduction and Genetics in Hunan Province Reproductive and Genetic Hospital of CITIC-XiangyaChangsha410078China Zebrafish Genetics Laboratory College of Life SciencesHunan Normal UniversityChangsha410081China Department of Cardiovascular Surgery The Second Xiangya Hospital of Central South UniversityCentral South UniversityChangsha410011China Clinical Center for Gene Diagnosis and Therapy Department of Cardiovascular SurgeryThe Second Xiangya Hospital of Central South UniversityChangsha410011China

Primary ciliary dyskinesia(PCD)is a congenital,motile ciliopathy with pleiotropic *** nearly 50 causative genes have been identified,they only account for approximately 70%of definitive PCD *** axonemal heavy chain 10(DNAH10)encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm *** on the common axoneme structure of motile cilia and sperm flagella,DNAH10 variants are likely to cause *** exome sequencing,we identified a novel DNAH10 homozygous variant(c.589C>T,p.R197W)in a patient with PCD from a consanguineous *** patient manifested sinusitis,bronchiectasis,situs inversus,and *** analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia,and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm ***,animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD,including chronic respiratory infection,male infertility,and *** the best of our knowledge,this study is the first to report DNAH10 deficiency related to PCD in human and mouse models,which suggests that DNAH10 recessive mutation is causative of PCD.

关键词： DNAH10 mice motile cilia mutation primary ciliary dyskinesia

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Revisiting East Asian monsoon change during the Last Glacial Maximum using PMIP4 simulations

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Atmospheric and Oceanic Science Letters 2024年第3期17卷 47-52页

作者： zhiping Tian Institute of Atmospheric Physics Chinese Academy of SciencesBeijingChina

利用PMIP4多模式试验数据,本文重新检查了末次冰盛期(距今约21000年)东亚季风变化.结果表明:相对于工业革命前期,所有5个模式一致模拟显示末次冰盛期东亚季风减弱,冬季和夏季减幅分别为1%-18%和2-32%;不同模式中东亚季风环流变化的空间... 详细信息

利用PMIP4多模式试验数据,本文重新检查了末次冰盛期(距今约21000年)东亚季风变化.结果表明:相对于工业革命前期,所有5个模式一致模拟显示末次冰盛期东亚季风减弱,冬季和夏季减幅分别为1%-18%和2-32%;不同模式中东亚季风环流变化的空间分布存在差异,这主要源于该时期大尺度变冷和海平面气压梯度变化的空间分布不同;由于模式之间的差异和重建记录之间的不确定性,未来有待开展更多模拟和重建工作以更好地理解冰期东亚季风变化.

关键词：末次冰盛期东亚冬季风东亚夏季风 PMIP4试验

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Experimental study on the activation of coal gasification fly ash from industrial CFB gasifiers

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Chinese Journal of Chemical Engineering 2024年第1期65卷 8-18页

作者： Qiyao Yang Xiaobin Qi Qinggang Lyu zhiping Zhu North China Electric Power University Beijing 102206China Institute of Engineering Thermophysics Chinese Academy of SciencesBeijing 100190China Shanxi Key Laboratory of Coal Flexible Combustion and Thermal Conversion Datong 037000China University of Chinese Academy of Sciences Beijing 100049China Shanxi Engineering Research Center of Coal Clean Efficient Combustion and GasificationDatong 037000China

Coal gasification fly ash(CGFA)is an industrial solid waste from the coal circulating fluidized bed(CFB)gasification process,and it needs to be effectively disposed to achieve sustainable development of the *** realize the application of CGFA as a precursor of porous carbon materials,the physicochemical properties of three kinds of CGFA from industrial CFB gasifiers are ***,the activation potential of CGFA is acquired via steam activation experiments in a tube furnace ***,the fluidization activation technology of CGFA is practiced in a bench-scale CFB test rig,and its advantages are *** results show that CGFA is characterized by a high carbon content in the range of 54.06%–74.09%,an ultrafine particle size(d50:16.3–26.1 μm),and a relatively developed pore structure(specific surface area SSA:139.29–551.97 m^(2)·g^(-1)).The proportion of micropores in CGFA increases gradually with the coal *** activation experiments show that the pore development of CGFA mainly includes three stages:initial pore development,dynamic equilibrium between micropores and mesopores and pore *** SSA of lignite fly ash(LFA),subbituminous fly ash(SBFA)and anthracite fly ash(AFA)is maximally increased by 105%,13%and 72%after steam activation;the order of the largest carbon reaction rate and decomposition ratio of steam among the three kinds of CGFA is SBFA>LFA>*** the ratio of oxygen to carbon during the fluidization activation of LFA is from 0.09 to 0.19,the carbon conversion ratio increases from 14.4%to 26.8%and the cold gas efficiency increases from 6.8%to 10.2%.The SSA of LFA increases by up to 53.9%during the fluidization activation process,which is mainly due to the mesoporous *** to steam activation in a tube furnace reactor,fluidization activation takes an extremely short time(seconds)to achieve the same activation *** is expected to further improve the activation effect of LFA by regulating the carbo

关键词： Circulating fluidized bed Coal gasification fly ash Steam activation Pore structure evolution Fluidization activation

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Ultrafast optical modulation of the fluorescence from a single-photon emitter in silicon carbide

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Photonics Research 2024年第5期12卷 941-946页

作者： MENGTING HE YUJING CAO JUNJIE LIN zhiping JU BOTAO WU E WU State Key Laboratory of Precision Spectroscopy East China Normal UniversityShanghai 200241China Photon Technology(Zhejiang)Co. Ltd.Jiaxing 314100China National Key Laboratory of Materials for Integrated Circuits Shanghai Institute of Microsystem and Information TechnologyChinese Academy of SciencesShanghai 200000China Department of Physics and Shanghai Key Laboratory for Magnetic Resonance East China Normal UniversityShanghai 200241China Chongqing Key Laboratory of Precision Optics Chongqing Institute of East China Normal UniversityChongqing 401120China Collaborative Innovation Center of Extreme Optics Shanxi UniversityTaiyuan 030006China

The quest for the room-temperature optical transistor based on nonlinearities in single atoms or molecules is attracting a lot of *** this work,a single-photon emitter in cubic silicon carbide is verified that can operate as an optical switch at room temperature under pulsed green laser illumination with a near-infrared pulsed laser as the control *** demonstrated an ultrafast and reversible optical modulation with a high photoluminescence intensity suppression ratio up to 97.9%and a response time as short as 287.9±5.7 *** current development provides insights for high-precision and ultrafast optical switches,with possibilities for integration with emerging electronic installations to realize more intelligent photoelectric integrated devices.

关键词： emitter carbide photon

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A dynamical neural network approach for distributionally robust chance-constrained Markov decision process

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Science China Mathematics 2024年第6期67卷 1395-1418页

作者： Tian Xia Jia Liu zhiping Chen School of Mathematics and Statistics Xi’an Jiaotong UniversityXi’an710049China

In this paper,we study the distributionally robust joint chance-constrained Markov decision *** the logarithmic transformation technique,we derive its deterministic reformulation with bi-convex terms under the moment-based uncertainty *** cope with the non-convexity and improve the robustness of the solution,we propose a dynamical neural network approach to solve the reformulated optimization *** results on a machine replacement problem demonstrate the efficiency of the proposed dynamical neural network approach when compared with the sequential convex approximation approach.

关键词： Markov decision process chance constraints distributionally robust optimization moment-based ambiguity set dynamical neural network

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Unsupervised Time Series Segmentation: A Survey on Recent Advances

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Computers, Materials & Continua 2024年第8期80卷 2657-2673页

作者： Chengyu Wang Xionglve Li Tongqing Zhou zhiping Cai College of Computer National University of Defense TechnologyChangsha410073China

Time series segmentation has attracted more interests in recent years,which aims to segment time series into different segments,each reflects a state of the monitored *** there have been many surveys on time series segmentation,most of them focus more on change point detection(CPD)methods and overlook the advances in boundary detection(BD)and state detection(SD)*** this paper,we categorize time series segmentation methods into CPD,BD,and SD methods,with a specific focus on recent advances in BD and SD *** the scope of BD and SD,we subdivide the methods based on their underlying models/techniques and focus on the milestones that have shaped the development trajectory of each *** a conclusion,we found that:(1)Existing methods failed to provide sufficient support for online working,with only a few methods supporting online deployment;(2)Most existing methods require the specification of parameters,which hinders their ability to work adaptively;(3)Existing SD methods do not attach importance to accurate detection of boundary points in evaluation,which may lead to limitations in boundary point *** highlight the ability to working online and adaptively as important attributes of segmentation methods,the boundary detection accuracy as a neglected metrics for SD methods.

关键词： Time series segmentation time series state detection boundary detection change point detection

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Global optimization of double protograph LDPC codes for JSCC scheme

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Science China(Information Sciences) 2024年第6期67卷 455-456页

作者： Qiwang CHEN Chen CHEN Yu-Cheng HE zhiping XU Xiamen Key Laboratory of Mobile Multimedia Communications College of Information Science and EngineeringHuaqiao University Key Laboratory of Underwater Acoustic Communication and Marine Information Technology (Xiamen University) Ministry of Education School of Ocean Information Engineering Jimei University

A double low-density parity-check (D-LDPC) coding system was proposed in[1]as a typical joint source-channel coding(JSCC) scheme[1–5].In this system,two LDPC coding matrices perform source and channel coding,*** important concept in a D-LDPC coding system is the introduction of a linking matrix between the check nodes (CNs)of the source coding matrix and the variable nodes (VNs) of the channel LDPC coding matrix.

关键词： JOINT SOURCE DESIGN

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