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Toward understanding the role of genomic repeat elements in neurodegenerative diseases

Neural Regeneration Research 2025年第3期20卷 646-659页

作者： Zhengyu An Aidi Jiang Jingqi Chen institute of Science and technology for Brain-Inspired Intelligence Fudan UniversityShanghaiChina MOE Frontiers Center for Brain Science Fudan UniversityShanghaiChina MOE Key Laboratory of Computational Neuroscience and Brain-Inspired Intelligence Fudan UniversityShanghaiChina Zhangjiang Fudan International Innovation Center ShanghaiChina

Neurodegenerative diseases cause great medical and economic burdens for both patients and society;however, the complex molecular mechanisms thereof are not yet well understood. With the development of high-coverage sequencing technology, researchers have started to notice that genomic repeat regions, previously neglected in search of disease culprits, are active contributors to multiple neurodegenerative diseases. In this review, we describe the association between repeat element variants and multiple degenerative diseases through genome-wide association studies and targeted sequencing. We discuss the identification of disease-relevant repeat element variants, further powered by the advancement of long-read sequencing technologies and their related tools, and summarize recent findings in the molecular mechanisms of repeat element variants in brain degeneration, such as those causing transcriptional silencing or RNA-mediated gain of toxic function. Furthermore, we describe how in silico predictions using innovative computational models, such as deep learning language models, could enhance and accelerate our understanding of the functional impact of repeat element variants. Finally, we discuss future directions to advance current findings for a better understanding of neurodegenerative diseases and the clinical applications of genomic repeat elements.

关键词： Alzheimer's disease ataxia deep learning long-read sequencing neurodegeneration neurodegenerative diseases Parkinson's disease repeat element structural variant

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Correlative optical photothermal infrared and X-ray fluorescence for chemical imaging of trace elements and relevant molecular structures directly in neurons

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Light(Science & Applications) 2021年第8期10卷 1536-1545页

作者： Nadja Gustavsson Agnes Paulus Isak Martinsson Anders Engdahl Kadda Medjoubi Konstantin Klementiev Andrea Somogyi Tomas Deierborg Ferenc Borondics Gunnar K Gouras Oxana Klementieva Medical Microspearoscopy Department of Experimental Medical ScienceLund University22180 LundSweden. Experimental Neuroinflammation Lab Department of Experimental Medical ScienceLund University22180 LundSweden. Experimental Dementia Research Department of Experimental Medical ScienceLund University22180 LundSweden. Synchrotron SOLEIL L'Orme des Merisiers91192 Gif Sur Yvette CedexFrance. MAX IV Laboratory 22100 LundSweden. lund institute for advanced Neutron and X-ray Science(LINXS) 22370 LundSweden

Alzheimer's disease(AD)is the most common cause of dementia,costing about 1%of the global *** of clinical trials targeting amyloid-βprotein(Aβ),a key trigger of AD,have been explained by drug inefficiency regardless of the mechanisms of amyloid neurotoxicity,which are very difficult to address by available ***,we combine two imaging modalities that stand at opposite ends of the electromagnetic spectrum,and therefore,can be used as complementary tools to assess structural and chemical information directly in a single *** label-free super-resolution microspectroscopy for sub-cellular imaging based on novel optical photothermal infrared(O-PTIR)and synchrotron-based X-ray fluorescence(S-XRF)nano-imaging techniques,we capture elemental distribution and fibrillary forms of amyloid-βproteins in the same neurons at an unprecedented *** results reveal that in primary AD-like neurons,iron clusters co-localize with elevated amyloidβ-sheet structures and oxidized ***,our O-PTIR/S-XRF results motivate using high-resolution multimodal microspectroscopic approaches to understand the role of molecular structures and trace elements within a single neuronal cell.

关键词： elevated elements complementary

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Genes and proteins expressed at different life cycle stages in the model protist Euplotes vannus revealed by both transcriptomic and proteomic approaches

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Science China Life Sciences 2025年第1期 232-248页

作者： Yaohan Jiang Xiao Chen Chundi Wang Liping Lyu Saleh A.Al-Farraj Naomi A.Stover Feng Gao Key Laboratory of Evolution & Marine Biodiversity (Ministry of Education) and institute of Evolution & Marine Biodiversity Ocean University of China Marine College Shandong University Zoology Department College of ScienceKing Saud University Department of Biology Bradley University Laboratory for Marine Biology and Biotechnology Qingdao Marine Science and Technology Center

Sexual reproduction first appeared in unicellular protists and has continued to be an essential biological process in almost all *** protists, which contain both germline and somatic genomes within a single cell, have evolved a special form of sexual reproduction called conjugation that involves mitosis, meiosis, fertilization, nuclear differentiation, genome rearrangement, and the development of unique cellular structures. The molecular basis and mechanisms of conjugation vary dramatically among ciliates, and many details of the process and its regulation are still largely unknown. In order to better comprehend these processes and mechanisms from an evolutionary perspective, this study provides the first comprehensive overview of the transcriptome and proteome profiles during the entire life cycle of the newly-established marine model ciliate Euplotes vannus. Transcriptome analyses from 14 life cycle stages(three vegetative stages and 11 sexual stages) revealed over 26,000 genes that are specifically expressed at different stages, many of which are related to DNA replication,transcription, translation, mitosis, meiosis, nuclear differentiation, and/or genome rearrangement. Quantitative proteomic analyses identified 338 proteins with homologs associated with conjugation and/or somatic nuclear development in other ciliates, including dicer-like proteins, Hsp90 proteins, RNA polymerase Ⅱ and transcription elongation factors, ribosomal-associated proteins, and ubiquitin-related proteins. Four of these homologs belong to the PIWI family, each with different expression patterns identified and confirmed by RT-qPCR,which may function in small RNA-mediated genome rearrangement. Proteins involved in the nonhomologous end-joining pathway are induced early during meiosis and accumulate in the developing new somatic nucleus, where more than 80% of the germline sequences are eliminated from the somatic genome. A number of new candidate genes and proteins likely t

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Microstructure and Wear Behavior of Cermet/Iron Alloy Cladding Layers on A6061 Alloy Coated by Resistance Seam Welding Method

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Acta Metallurgica Sinica(English Letters) 2015年第4期28卷 414-423页

作者： Wen-Qin Wang Tomiko Yamaguchi Kazumasa Nishio Faculty of Engineering Kyushu Institute of Technology Nishinippon institute of technology

Cermet/iron alloy cladding layers were coated on the surface of Al-Mg-Si alloy （A6061） plates by resistance seam welding method with tungsten carbide （WC） and high-carbon iron alloy （SHA） powders. The cladding layer consisted of WC reinforcement, SHA binder, A6061 and FeAl3. The effect of WC ratio （30 wt%, 50 wt% and 70 wt%） on the microstructure and wear behavior of the cladding layers was investigated in detail. Abrasive wear test was performed under two kinds of load condition by using a rubber wheel apparatus to evaluate wear resistance. The results showed that the wear resistance of the cladding layer was improved by 3.5-5 times than that of the substrate. At lower load, the wear resistances of the samples 30% and 70% WC were nearly the same, which suggested that FeAl3 played an important role in improvement of the wear resistance instead of WC. While at higher load, the amount of WC determined the wear resistance of the cladding layer. Furthermore, wear behavior of these cladding layers was explained with reference to the observed microstructure of the worn surface.

关键词： Resistance seam welding A6061 WC Cladding layer Wear resistance

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Unleashing the Potential of Electroactive Hybrid Biomaterials and Self‑Powered Systems for Bone Therapeutics

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Nano-Micro Letters 2025年第2期17卷 463-497页

作者： Shichang Liu Farid Manshaii Jinmiao Chen Xinfei Wang Shaolei Wang Junyi Yin Ming Yang Xuxu Chen Xinhua Yin Yunlei Zhou Honghui Hospital Xi’an Jiaotong UniversityXi’an 710018People’s Republic of China Department of Bioengineering Henry Samueli School of Engineering and Applied ScienceUniversity of California Los AngelesLos Angeles 90095USA Hangzhou institute of technology Xidian UniversityHangzhou 311231People’s Republic of China

The incidence of large bone defects caused by traumatic injury is increasing worldwide,and the tissue regeneration process requires a long recovery time due to limited self-healing *** bioelectrical phenomena have been well recognized as critical biophysical factors in bone remodeling and *** by bioelectricity,electrical stimulation has been widely considered an external intervention to induce the osteogenic lineage of cells and enhance the synthesis of the extracellular matrix,thereby accelerating bone *** ongoing advances in biomaterials and energy-harvesting techniques,electroactive biomaterials and self-powered systems have been considered biomimetic approaches to ensure functional recovery by recapitulating the natural electrophysiological microenvironment of healthy bone *** this review,we first introduce the role of bioelectricity and the endogenous electric field in bone tissue and summarize different techniques to electrically stimulate cells and ***,we highlight the latest progress in exploring electroactive hybrid biomaterials as well as self-powered systems such as triboelectric and piezoelectric-based nanogenerators and photovoltaic cell-based devices and their implementation in bone tissue ***,we emphasize the significance of simulating the target tissue’s electrophysiological microenvironment and propose the opportunities and challenges faced by electroactive hybrid biomaterials and self-powered bioelectronics for bone repair strategies.

关键词： Electroactive biomaterials Self-powered bioelectronics Bone regeneration Bone tissue

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Effects of carbon content on the microstructure and tensile properties of a low-density steel

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International Journal of Minerals,Metallurgy and Materials 2025年第2期32卷 391-401页

作者： Yongxuan Shang Mingyu Fan Shuyong Jiang Zhongwu Zhang Key Laboratory of Superlight Materials and Surface technology Ministry of EducationCollege of Materials Science and Chemical EngineeringHarbin Engineering UniversityHarbin 150001China State Key Laboratory of Metal Material for Marine Equipment and Application Iron&Steel Research Institute of Ansteel Group CorporationAnshan 114009China

Carbon can change the phase components of low-density steels and influence the mechanical *** this study,a new method to control the carbon content and avoid the formation ofδ-ferrite by decarburization treatment was *** microstructural changes and mechanical characteristics with carbon content induced by decarburization were systematically ***-Jaoul(C-J)analysis was employed to examine the work hardening characteristics during the tensile *** decarburization by heat treatments,the carbon content within the austenite phase decreased,while Mn and Al were almost unchanged;this made the steel with full austenite transform into the austenite and ferrite dual ***,(Ti,V)C carbides existed in both matrix phase and the mole fraction almost the *** addition,the formation of other carbides *** loss induced a decrease in strength due to the weakening of the carbon solid *** the steel with the single austinite,the deformation mode of austenite was the dislocation planar glide,resulting in the formation of *** the dual-phase steel,the deformation occurred by the dislocation planar glide of austenite first,with the increase in strain,the cross slip of ferrite took place,forming dislocation cells in *** the late stage of deformation,the work hardening of austinite increased rapidly,while that of ferrite increased slightly.

关键词： low-density steels carbon content decarburization strengthening mechanisms work hardening behavior

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A review of chatter vibration research in milling

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Chinese Journal of Aeronautics 2019年第2期32卷 215-242页

作者： Caixu YUE Haining GAO Xianli LIU Steven Y.LIANG Lihui WANG Harbin University of Science and technology Georgia institute of technology KTH Royal institute of technology

Chatter is a self-excited vibration of parts in machining systems. It is widely present across a range of cutting processes, and has an impact upon both efficiency and quality in production processing. A great deal of research has been dedicated to the development of technologies that are able to predict and detect chatter. The purpose of these technologies is to facilitate the avoidance of chatter during cutting processes, which leads to better surface precision, higher productivity,and longer tool life. This paper summarizes the current state of the art in research regarding the problems of how to arrive at stable chatter prediction, chatter identification, and chatter control/-suppression, with a focus on milling processes. Particular focus is placed on the theoretical relationship between cutting chatter and process damping, tool runout, and gyroscopic effect, as well as the importance of this for chatter prediction. The paper concludes with some reflections regarding possible directions for future research in this field.

关键词： Chatter Gyroscopic effects Milling Process damping Tool runout

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Quantitative measurement of hydroxyl radical(OH) concentration in premixed flat flame by combining laser-induced fluorescence and direct absorption spectroscopy

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Chinese Physics B 2016年第10期25卷 89-95页

作者：陈爽苏铁李中山白菡尘闫博杨富荣 Science and technology on Scramjet Laboratory Hypervelocity Aerodynamics Institute of China Aerodynamic Research and Development Center China Aerodynamics Research and Development Center Division of Combustion Physics Lund University

An accurate and reasonable technique combining direct absorption spectroscopy and laser-induced fluorescence（LIF）methods is developed to quantitatively measure the concentrations of hydroxyl in CH;/air flat laminar flame. In our approach, particular attention is paid to the linear laser-induced fluorescence and absorption processes, and experimental details as well. Through measuring the temperature, LIF signal distribution and integrated absorption, spatially absolute OH concentrations profiles are successfully resolved. These experimental results are then compared with the numerical simulation. It is proved that the good quality of the results implies that this method is suitable for calibrating the OH-PLIF measurement in a practical combustor.

关键词： laser-induced fluorescence(LIF) direct absorption spectroscopy hydroxyl radical(OH) quantitative measurement

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A-D-A′-D-A型非稠环电子受体及其在有机太阳电池与光探测器中的应用（英文）

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Science China Materials 2025年第1期 1-20页

作者：魏文魁周霞杨明群吴宝奇段春晖 institute of Polymer Optoelectronic Materials and Devices Guangdong Basic Research Center of Excellence for Energy & Information Polymer MaterialsState Key Laboratory of Luminescent Materials and Devices South China University of Technology School of New Energy Ningbo University of Technology

A–D–A′–D–A型非稠环电子受体(NFREA)是由给电子单元(D)桥连不同的吸电子单元(A和A′)组成.由于给/吸电子单元之间通过碳-碳单键连接, A–D–A′–D–A型非稠环电子受体通常具有合成简单、光电性能易于调控等优点.近年来,其在有机...

A–D–A′–D–A型非稠环电子受体(NFREA)是由给电子单元(D)桥连不同的吸电子单元(A和A′)组成.由于给/吸电子单元之间通过碳-碳单键连接, A–D–A′–D–A型非稠环电子受体通常具有合成简单、光电性能易于调控等优点.近年来,其在有机太阳电池(OSC)和有机光探测器(OPD)领域,逐渐成为一类非常有潜力的电子受体.本文系统回顾了A–D–A′–D–A型非稠环电子受体的进展,包括分子设计、器件性能、结构-性质关系,以及其在OSC和OPD中的应用.最后,本文讨论了该类电子受体当前所面临的挑战,并展望了其未来的发展前景.

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Multi-Scale Dilated Convolution Network for SPECT-MPI Cardiovascular Disease Classification with Adaptive Denoising and Attenuation Correction

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Computer Modeling in Engineering & Sciences 2025年第1期142卷 299-327页

作者： A.Robert Singh Suganya Athisayamani Gyanendra Prasad Joshi Bhanu Shrestha Department of Computational Intelligence SRM Institute of Science and TechnologyKattankulathur603203Tamil NaduIndia School of Computing Sastra Deemed to be UniversityThanjavur613401Tamil NaduIndia Department of Artificial Intelligence&Software Kangwon National UniversitySamcheok25913Republic of Korea Department of Information Convergence System Graduate School of Smart ConvergenceKwangwoon UniversitySeoul01897Republic of Korea

Myocardial perfusion imaging(MPI),which uses single-photon emission computed tomography(SPECT),is a well-known estimating tool for medical diagnosis,employing the classification of images to show situations in coronary artery disease(CAD).The automatic classification of SPECT images for different techniques has achieved near-optimal accuracy when using convolutional neural networks(CNNs).This paper uses a SPECT classification framework with three steps:1)Image denoising,2)Attenuation correction,and 3)Image *** denoising is done by a U-Net architecture that ensures effective image *** correction is implemented by a convolution neural network model that can remove the attenuation that affects the feature extraction process of ***,a novel multi-scale diluted convolution(MSDC)network is *** merges the features extracted in different scales and makes the model learn the features more *** scales of filters with size 3×3 are used to extract *** three steps are compared with state-of-the-art *** proposed denoising architecture ensures a high-quality image with the highest peak signal-to-noise ratio(PSNR)value of *** proposed classification method is compared with the five different CNN models,and the proposed method ensures better classification with an accuracy of 96%,precision of 87%,sensitivity of 87%,specificity of 89%,and F1-score of 87%.To demonstrate the importance of preprocessing,the classification model was analyzed without denoising and attenuation correction.

关键词： SPECT-MPI CAD MSDC denoising attenuation correction classification

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