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Toward understanding the role of genomic repeat elements in neurodegenerative diseases

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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

Fabrication and Mechano-sensing Characteristics of Bending Polypyrrole Actuator

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Journal of Wuhan University of Technology(Materials Science) 2025年第1期40卷 240-245页

作者： chen Jinyou HU Wei School of Automotive Engineering Hunan Financial&Industrial Vocational-technical CollegeHengyang 421002China College of Mechanical and Electrical Engineering Hunan Agricultural UniversityChangsha 410128China

To prepare a conductive polymer actuator with decent performance,a self-built experimental platform for the preparation of polypyrrole film is *** of the essential goals is to examine the mechanical characteristics of the actuator in the presence of various combinations of process parameters,combined with the orthogonal test method of"four factors and three levels".The bending and sensing characteristics of actuators of various sizes are methodically examined using a self-made bending polypyrrole *** functional relationship between the bending displacement and the output voltage signal is established by studying the characteristics of the actuator sensor subjected to various degrees of *** experimental results reveal that the bending displacement of the actuator tip almost exhibits a linear variation as a function of length and *** the voltage reaches 0.8 V,the bending speed of the actuator tends to be ***,the mechanical properties of the self-assembled polypyrrole actuator are verified by the design and fabrication of the microgripper.

关键词： conductive polymer polypyrrole mechanical characteristics actuators sensing characteristics

Analysis of Micromechanical Properties at the Interface of Pre-wet SBS Modified Asphalt Mixture Based on Molecular Simulation Technology

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Journal of Wuhan University of Technology(Materials Science) 2025年第1期40卷 103-113页

作者： chen Wuxing chen Shuang YU Yan ZHANG Jiangyi XU Haiyang GUO Wei School of Mines China University of Mining and TechnologyXuzhou 221000China College of Construction Engineering Jilin Uni-versityChangchun 130026China

The pre-wetting of aggregate surface is a means to improve the interface performance of SBS modified asphalt and *** effect of pre-wetting technology on the interaction between SBS modified asphalt and aggregate was analyzed by molecular dynamics *** diffusion coefficient and concentration distribution of SBS modified asphalt on aggregate surface are *** simulation results show that the diffusion coefficient of the aggregate surface of SBS modified asphalt is increased by 47.6%and 70.5%respectively after 110#asphalt and 130#asphalt are *** concentration distribution of SBS modified asphalt on the aggregate surface after pre-wetting is more *** to the results of interface energy calculation,the interface energy of SBS modified bitumen and aggregate can be increased by about 5%after *** to the results of molecular dynamics simulation,the pre-wetting technology can effectively improve the interface workability of SBS modified bitumen and aggregate,so as to improve the interface performance.

关键词： pre-wet oil-stone interface interface interaction interface mechanics molecular dynamics simulation

A Lightweight Multiscale Feature Fusion Network for Solar Cell Defect Detection

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Computers, Materials & Continua 2025年第1期82卷 521-542页

作者： Xiaoyun chen Lanyao Zhang Xiaoling chen Yigang Cen Linna Zhang Fugui Zhang School of Mechanical Engineering Guizhou UniversityGuiyang550025China School of Computer Science and Technology Beijing Jiaotong UniversityBeijing100044China

Solar cell defect detection is crucial for quality inspection in photovoltaic power generation *** the production process,defect samples occur infrequently and exhibit random shapes and sizes,which makes it challenging to collect defective ***,the complex surface background of polysilicon cell wafers complicates the accurate identification and localization of defective *** paper proposes a novel Lightweight Multiscale Feature Fusion network(LMFF)to address these *** network comprises a feature extraction network,a multi-scale feature fusion module(MFF),and a segmentation ***,a feature extraction network is proposed to obtain multi-scale feature outputs,and a multi-scale feature fusion module(MFF)is used to fuse multi-scale feature information *** order to capture finer-grained multi-scale information from the fusion features,we propose a multi-scale attention module(MSA)in the segmentation network to enhance the network’s ability for small target ***,depthwise separable convolutions are introduced to construct depthwise separable residual blocks(DSR)to reduce the model’s parameter ***,to validate the proposed method’s defect segmentation and localization performance,we constructed three solar cell defect detection datasets:SolarCells,SolarCells-S,and *** and SolarCells-S are monocrystalline silicon datasets,and PVEL-S is a polycrystalline silicon *** results show that the IOU of our method on these three datasets can reach 68.5%,51.0%,and 92.7%,respectively,and the F1-Score can reach 81.3%,67.5%,and 96.2%,respectively,which surpasses other commonly usedmethods and verifies the effectiveness of our LMFF network.

关键词： Defect segmentation multi-scale feature fusion multi-scale attention depthwise separable residual block

Preparation of Low Ratio Magnesium Ccement by Acid Leaching Treatment of Boron Mud

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Journal of Wuhan University of Technology(Materials Science) 2025年第1期40卷 120-129页

作者： YANG Mei ZHANG Mingzhe chen Hao School of Materials Science and Engineering Shenyang Jianzhu UniversityShenyang 110168China School of Physical Science and Technology Shenyang Normal UniversityShenyang 110168China

The effects of liquid-solid ratio and reaction time on the leaching rate of magnesium at room temperature were investigated,as well as the effects of the molar ratio of MgO/MgCl_(2),the amount of water added,and the amount of acid-impregnated slag dosed on the compressive strength and water resistance of *** results showed that the magnesium element in the boron mud could be maximally leached under the conditions of 1:1 concentration of hydrochloric acid at room temperature,liquid-solid ratio of 2.5 mL·g^(-1),and reaction time of 5 h,and the main products were amorphous SiO_(2) as well as a small amount of magnesium olivine which had not been completely *** LR-MOC prepared using the acid-soaked mixture could reach a softening coefficient of 0.85 for 28 d of water immersion when the molar ratio of MgO/MgCl_(2) was 2.2,the amount of water added was 0 g,and the acid-soaked slag dosing was 40 wt%,which also led to an appreciable late-strength,with an increase of 19.4%in compressive strength at 28 d compared to that at 7 *** previous studies,LR-MOC prepared in this way has a final strength phase that is not the more easily hydrolysed 3-phase but the lath-like *** this phenomenon,we analyzed the mechanism and found that,during the acid leaching process,a part of amorphous SiO_(2) dissolved in the acid leaching solution formed a silica sol,in which Mg^(2+)played a bridging role to make the silica sol more *** the addition and hydrolysis of MgO,the silica sol gel coagulation slows down,providing a capping layer to inhibit the hydrolysis of the 5-phase crystals and providing some strength after *** amorphous SiO_(2) in the other part of the acid-impregnated slag generated M-S-H gel with Mg^(2+)and OH-,which synergised with the dense structure composed of interlocking crystals to improve the water resistance of LR-MOC.

关键词： boron mud magnesium chloride-oxygen cement acid immersion water resistance silica sol

Tranylcypromine upregulates Sestrin 2 expression to ameliorate NLRP3-related noise-induced hearing loss

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Neural Regeneration Research 2025年第5期20卷 1483-1494页

作者： Xihang chen Zhifeng chen Menghua Li Weiwei Guo Shuolong Yuan Liangwei Xu Chang Lin Xi Shi Wei chen Shiming Yang Senior Department of Otolaryngology Head and Neck Surgery Chinese PLA General HospitalChinese PLA Medical SchoolBeijingChina State Key Laboratory of Hearing and Balance Science BeijingChina National Clinical Research Center for Otolaryngologic Diseases BeijingChina Key Laboratory of Hearing Science Ministry of EducationBeijingChina Beijing Key Laboratory of Hearing Impairment Prevention and Treatment BeijingChina Department of Otorhinolaryngology Head and Neck Surgery The First Affiliated Hospital of Fujian Medical UniversityFuzhouFujian ProvinceChina Department of Otolaryngology Head and Neck Surgery The 940th Hospital of Joint Logistics Support Force of Chinese PLALanzhouGansu ProvinceChina Key Laboratory of Tropical Biological Resources of Ministry of Education School of Pharmaceutical SciencesHainan UniversityHaikouHainan ProvinceChina Academician Workstation of Hainan University School of Pharmaceutical SciencesYazhou BaySanyaHainan ProvinceChina

Noise-induced hearing loss is the primary non-genetic factor contributing to auditory ***,there are currently no effective pharmacological interventions for patients with noise-induced hearing ***,we present evidence suggesting that the lysine-specific demethylase 1 inhibitor–tranylcypromine is an otoprotective agent that could be used to treat noise-induced hearing loss,and elucidate its underlying regulatory *** established a mouse model of permanent threshold shift hearing loss by exposing the mice to white broadband noise at a sound pressure level of 120 d B for 4 *** found that tranylcypromine treatment led to the upregulation of Sestrin2(SESN2)and activation of the autophagy markers light chain 3B and lysosome-associated membrane glycoprotein 1 in the cochleae of mice treated with *** noise exposure group treated with tranylcypromine showed significantly lower average auditory brainstem response hearing thresholds at click,4,8,and 16 k Hz frequencies compared with the noise exposure group treated with *** findings indicate that tranylcypromine treatment resulted in increased SESN2,light chain 3B,and lysosome-associated membrane glycoprotein 1 expression after noise exposure,leading to a reduction in levels of 4-hydroxynonenal and cleaved caspase-3,thereby reducing noise-induced hair cell ***,immunoblot analysis demonstrated that treatment with tranylcypromine upregulated SESN2 expression via the autophagy *** treatment also reduced the production of NOD-like receptor family pyrin domaincontaining 3(NLRP3)*** conclusion,our results showed that tranylcypromine treatment ameliorated cochlear inflammation by promoting the expression of SESN2,which induced autophagy,thereby restricting NLRP3-related inflammasome signaling,alleviating cochlear hair cell loss,and protecting hearing *** findings suggest that inhibiting lysine-specific demethylase 1 is a

关键词： 4-hydroxynonenal apoptosis autophagy cleaved caspase-3 inflammation NOD-like receptor family pyrin domain-containing 3(NLRP3) noise-induced hearing loss oxidative stress Sestrin2 tranylcypromine

Targeting cholesterol trafficking to mitigate axonal degeneration in hereditary spastic paraplegia

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Neural Regeneration Research 2025年第5期20卷 1397-1398页

作者： Zhenyu chen Xue-Jun Li Department of Biomedical Sciences University of Illinois College of Medicine RockfordRockfordILUSA Department of Bioengineering University of Illinois at ChicagoChicagoILUSA

Axonal degeneration underlies many debilitating diseases including hereditary spastic paraplegia(HSP),a genetically and clinically diverse group of disorders characterized by spasticity and weakness of the lower *** is one significant cause of chronic neurodisability due to the lack of effective treatments and a wide range of onset ages from early childhood to 70 years.

关键词： degeneration diseases hereditary

Autophagy-targeting modulation to promote peripheral nerve regeneration

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Neural Regeneration Research 2025年第7期20卷 1864-1882页

作者： Yan chen Hongxia Deng Nannan Zhang Department of Obstetrics and Gynecology West China Second HospitalSichuan UniversityChengduSichuan ProvinceChina Key Laboratory of Birth Defects and Women and Children’s Diseases Ministry of EducationSichuan UniversityChengduSichuan ProvinceChina Laboratory of Reproductive Endocrinology and Reproductive Regulation Sichuan UniversityChengduSichuan ProvinceChina National Center for Birth Defect Monitoring West China Second University HospitalSichuan UniversityChengduSichuan ProvinceChina

Nerve regeneration following traumatic peripheral nerve injuries and neuropathies is a complex process modulated by diverse factors and intricate molecular *** studies have focused on factors that stimulate axonal outgrowth and myelin ***,recent studies have highlighted the pivotal role of autophagy in peripheral nerve regeneration,particularly in the context of traumatic ***,autophagy-targeting modulation has emerged as a promising therapeutic approach to enhancing peripheral nerve *** current understanding suggests that activating autophagy facilitates the rapid clearance of damaged axons and myelin sheaths,thereby enhancing neuronal survival and mitigating injury-induced oxidative stress and *** actions collectively contribute to creating a favorable microenvironment for structural and functional nerve regeneration.A range of autophagyinducing drugs and interventions have demonstrated beneficial effects in alleviating peripheral neuropathy and promoting nerve regeneration in preclinical models of traumatic peripheral nerve *** review delves into the regulation of autophagy in cell types involved in peripheral nerve regeneration,summarizing the potential drugs and interventions that can be harnessed to promote this *** hope that our review will offer novel insights and perspectives on the exploitation of autophagy pathways in the treatment of peripheral nerve injuries and neuropathies.

关键词： autophagy autophagy related genes Charcot–Marie–Tooth diseases diabetic peripheral neuropathy metformin myelination peripheral nerve injury Schwann cells sciatic nerve Wallerian degeneration

Role of the Greenland Sea ice anomaly in the late-spring drought over Northwest China

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Atmospheric and Oceanic Science Letters 2025年第1期18卷 1-5页

作者： Yang Liu Huopo chen Nansen-Zhu International Research Centre Institute of Atmospheric Physics Chinese Academy of SciencesBeijingChina Collaborative Innovation Center on Forecast and Evaluation of Meteorological Disasters Nanjing University for Information Science and TechnologyNanjingChina

Drought across Northwest China in late spring has exerted a vital effect on the local climate and agricultural production,and has been alleviated during the past *** study explored the influence of the preceding Arctic sea ice on the May drought in Northwest China caused by the precipitation *** analysis indicated that when the Greenland Sea ice concentration is abnormally high during February to April,the dry conditions in Northwest China tend to be *** increase of sea ice in the Greenland Sea can excite a meridional circulation,which causes sea surface temperature(SST)anomalies in the North Atlantic via the sea-air interaction,manifested as significant warm SST anomalies over the south of Greenland and the subtropical North Atlantic,but negative SST anomalies over the west of the *** abnormal SST pattern maintains to May and triggers a zonal wave train from the North Atlantic through Scandinavia and Central Asia to Northwest China,leading to abnormal cyclones in Northwest ***,Northwest China experiences a more humid climate than usual.

关键词： Arctic sea ice Greenland Sea North Atlantic SST Drought Northwest China