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Genetic pathways in cerebral palsy:a review of the implications for precision diagnosis and understanding disease mechanisms

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Neural Regeneration Research 2024年第7期19卷 1499-1508页

作者： Yiran Xu yifei li Seidu A.Richard Yanyan Sun Changlian Zhu Henan Key Laboratory of Child Brain Injury and Henan Pediatric Clinical Research Center Institute of Neuroscience and The Third Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan ProvinceChina National Health Council(NHC)Key Laboratory of Birth Defects Prevention Henan Key Laboratory of Population Defects PreventionZhengzhouHenan ProvinceChina Department of Human Anatomy School of Basic Medicine and Institute of NeuroscienceZhengzhou UniversityZhengzhouHenan ProvinceChina Center for Brain Repair and Rehabilitation Institute of Neuroscience and PhysiologyUniversity of GothenburgGothenburgSweden

Ce rebral palsy is a diagnostic term utilized to describe a group of permanent disorders affecting movement and posture.Patients with cerebral palsy are often only capable of limited activity,resulting from non-progressive disturbances in the fetal or neonatal brain.These disturbances severely impact the child’s daily life and impose a substantial economic burden on the family.Although cerebral palsy encompasses various brain injuries leading to similar clinical outcomes,the unde rstanding of its etiological pathways remains incomplete owing to its complexity and heterogeneity.This review aims to summarize the current knowledge on the genetic factors influencing cerebral palsy development.It is now widely acknowledged that genetic mutations and alterations play a pivotal role in cerebral palsy development,which can be further influenced by environmental fa ctors.Des pite continuous research endeavors,the underlying fa ctors contributing to cerebral palsy remain are still elusive.However,significant progress has been made in genetic research that has markedly enhanced our comprehension of the genetic factors underlying cerebral palsy development.Moreove r,these genetic factors have been categorized based on the identified gene mutations in patients through clinical genotyping,including thrombosis,angiogenesis,mitochondrial and oxidative phosphorylation function,neuronal migration,and cellular autophagy.Furthermore,exploring targeted genotypes holds potential for precision treatment.In conclusion,advancements in genetic research have substantially improved our understanding of the genetic causes underlying cerebral palsy.These breakthroughs have the potential to pave the way for new treatments and therapies,consequently shaping the future of cerebral palsy research and its clinical management.The investigation of cerebral palsy genetics holds the potential to significantly advance treatments and management strategies.By elucidating the underlying cellular mechanisms,we can develop to rgeted interventions to optimiz

关键词： cerebral palsy environmental factors etiology genetic factors genetic mutation movement disorder spastic diplegia

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Precise genome-editing in human diseases:mechanisms,strategies and applications

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Signal Transduction and Targeted Therapy 2024年第3期9卷 1065-1085页

作者： Yanjiang Zheng yifei li Kaiyu Zhou Tiange li Nathan J.VanDusen Yimin Hua Key Laboratory of Birth Defects and Related Diseases of Women and Children of MOE Department of PediatricsWest China Second University HospitalSichuan UniversityChengduSichuan 610041China Department of Cardiovascular Surgery West China HospitalSichuan UniversityChengduSichuan 610041China Department of Pediatrics Herman B Wells Center for Pediatric ResearchIndiana University School of MedicineIndianapolisIN 46202USA

Precise genome-editing platforms are versatile tools for generating specific,site-directed DNA insertions,deletions,and substitutions.The continuous enhancement of these tools has led to a revolution in the life sciences,which promises to deliver novel therapies for genetic disease.Precise genome-editing can be traced back to the 1950s with the discovery of DNA’s doublehelix and,after 70 years of development,has evolved from crude in vitro applications to a wide range of sophisticated capabilities,including in vivo applications.Nonetheless,precise genome-editing faces constraints such as modest efficiency,delivery challenges,and off-target effects.In this review,we explore precise genome-editing,with a focus on introduction of the landmark events in its history,various platforms,delivery systems,and applications.First,we discuss the landmark events in the history of precise genome-editing.Second,we describe the current state of precise genome-editing strategies and explain how these techniques offer unprecedented precision and versatility for modifying the human genome.Third,we introduce the current delivery systems used to deploy precise genome-editing components through DNA,RNA,and RNPs.Finally,we summarize the current applications of precise genome-editing in labeling endogenous genes,screening genetic variants,molecular recording,generating disease models,and gene therapy,including ex vivo therapy and in vivo therapy,and discuss potential future advances.

关键词： precise generating editing

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Online Consensus Control of Nonlinear Affine Systems From Disturbed Data

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IEEE/CAA Journal of Automatica Sinica 2024年第2期11卷 551-553页

作者： yifei li Wenjie liu Jian Sun Chen Chen Jia Zhang Gang Wang National Key Laborary of Autonomous Intelligent Unmanned Systems Beijing Institute of TechnologyBeijing 100081 Beijing Institute of Technology Chongqing Innovation Center Chongqing 401120China

Dear Editor,In this letter, we introduce a novel online distributed data-driven robust control approach for learning controllers of unknown nonlinear multi-agent systems(MASs) using state-dependent representations.

关键词： agent online Online

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Self-confocal NIR-II fluorescence microscopy for multifunctional in vivo imaging

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Journal of Innovative Optical Health Sciences 2024年第1期17卷 105-119页

作者： Jing Zhou Tianxiang Wu Runze Chen liang Zhu Hequn Zhang yifei li liying Chen Jun Qian State Key Laboratory of Modern Optical Instrumentations Centre for Optical and Electromagnetic ResearchCollege of Optical Science and EngineeringInternational Research Center for Advanced PhotonicsZhejiang UniversityHangzhou 310058P.R.China Dr.li Dak Sum&Yip Yio Chin Center for Stem Cell and Regenerative Medicine Zhejiang UniversityHangzhou 310058P.R.China College of Biomedical Engineering and Instrument Science Interdisciplinary Institute of Neuroscience and Technology(ZIINT)Zhejiang UniversityHangzhou 310027P.R.China

Fluorescence imaging in the second near-infrared window(NIR-II,900–1880 nm)with less scattering background in biological tissues has been combined with the confocal microscopic system for achieving deep in vivo imaging with high spatial resolution.However,the traditional NIR-IIfluorescence confocal microscope with separate excitation focus and detection pinhole makes it possess low confocal e±ciency,as well as di±cultly to adjust.Two types of upgraded NIR-IIfluorescence confocal microscopes,sharing the same pinhole by excitation and emission focus,leading to higher confocal e±ciency,are built in this work.One type is-ber-pinhole-based confocal microscope applicable to CW laser excitation.It is constructed forfluorescence intensity imaging with large depth,high stabilization and low cost,which could replace multiphotonfluorescence microscopy in some applications(e.g.,cerebrovascular and hepatocellular imaging).The other type is air-pinhole-based confocal microscope applicable to femtosecond(fs)laser excitation.It can be employed not only for NIR-IIfluorescence intensity imaging,but also for multi-channelfluorescence lifetime imaging to recognize different structures with similarfluorescence spectrum.Moreover,it can be facilely combined with multiphotonfluorescence microscopy.A single fs pulsed laser is utilized to achieve up-conversion(visible multiphotonfluorescence)and down-conversion(NIR-II one-photonfluorescence)excitation simultaneously,extending imaging spectral channels,and thus facilitates multi-structure and multi-functional observation.

关键词： Self-confocal fiber-pinhole air-pinhole multi-channe fluorescence lifetime imaging multi-color imaging

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Experimental investigation of engineered geopolymer composite for structural strengthening against blast loads

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Defence Technology（防务技术） 2024年第2期32卷 496-509页

作者： Shan liu Chunyuan liu yifei Hao Yi Zhang li Chen Zhan li Key Laboratory of Coast Civil Structure Safety of Ministry of Education Tianjin UniversityTianjin 300072China Tianjin Key Laboratory of Prefabricated Buildings and Intelligent Construction Hebei University of TechnologyTianjin 300400China Institute of Defense Engineering AMSPLABeijing 100850China Engineering Research Center of Safety and Protection of Explosion&Impact of Ministry of Education Southeast UniversityNanjing 211189JiangsuChina State Key Laboratory of Disaster Prevention&Mitigation of Explosion&Impact Army Engineering University of the PLANanjing 210007JiangsuChina

The recent increase in blast/bombing incidents all over the world has pushed the development of effective strengthening approaches to enhance the blast resistance of existing civil infrastructures.Engineered geopolymer composite(EGC)is a promising material featured by eco-friendly,fast-setting and strain-hardening characteristics for emergent strengthening and construction.However,the fiber optimization for preparing EGC and its protective effect on structural elements under blast scenarios are uncertain.In this study,laboratory tests were firstly conducted to evaluate the effects of fiber types on the properties of EGC in terms of workability,dry shrinkage,and mechanical properties in compression,tension and flexure.The experimental results showed that EGC containing PE fiber exhibited suitable workability,acceptable dry shrinkage and superior mechanical properties compared with other types of fibers.After that,a series of field tests were carried out to evaluate the effectiveness of EGC retrofitting layer on the enhancement of blast performance of typical elements.The tests include autoclaved aerated concrete(AAC)masonry walls subjected to vented gas explosion,reinforced AAC panels subjected to TNT explosion and plain concrete slabs subjected to contact explosion.It was found that EGC could effectively enhance the blast resistance of structural elements in different scenarios.For AAC masonry walls and panels,with the existence of EGC,the integrity of specimens could be maintained,and their deflections and damage were significantly reduced.For plain concrete slabs,the EGC overlay could reduce the diameter and depth of the crater and spallation of specimens.

关键词： Engineered geopolymer composites Fiber optimization Strengthening material Blast resistance Masonry wall Reinforced AAC panel Plain concrete slab

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From atomistic modeling to materials design:computation-driven material development in lithium-ion batteries

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Science China Chemistry 2024年第1期67卷 276-290页

作者： Xiangrong li Xiang Chen Qiang Bai yifei Mo Yizhou Zhu Research Center for Industries of the Future and School of Engineering Westlake UniversityHangzhou 310030China Department of Chemical Engineering Tsinghua UniversityBeijing 100084China College of Materials Science and Engineering Taiyuan University of TechnologyTaiyuan 030024China Department of Materials Science and Engineering University of MarylandCollege Park 20742United States

As an advanced energy storage system,lithium-ion batteries play an essential role in modern technologies.Despite their ubiquitous success,there is a great demand for continuous improvements of the battery performance,including higher energy density,lower safety risk,longer cycling life,and lower cost.Such performance improvement requires the design and development of novel electrode and electrolyte materials that exhibit desirable properties and satisfy strict requirements.Atomistic modeling can provide a unique perspective to fundamentally understand and rationally design battery materials.In this paper,we review a few recent successful examples of computation-driven discovery and design in electrode and electrolyte materials.Particularly,we highlight how atomistic modeling can reveal the underlying mechanisms,predict the important properties,and guide the design and engineering of electrode and electrolyte materials.We have a conclusion with a discussion of the unique capability of atomistic modeling in battery material development and provide a perspective on future challenges and directions for computation-driven battery material developments.

关键词： materials design computation modeling batteries electrolyte electrode

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Whole-genome sequencing in medicinal plants:current progress and prospect

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Science China(life Sciences) 2024年第2期67卷 258-273页

作者： yifei Pei liang Leng Wei Sun Baocai liu Xue Feng Xiwen li Shilin Chen Institute of Chinese Materia Medica China Academy of Chinese Medical SciencesBeijing 100700China Institute of Herbgenomics Chengdu University of Traditional Chinese MedicineChengdu 611137China Innovative Institute of Chinese Medicine and Pharmacy Chengdu University of Traditional Chinese MedicineChengdu 611137China Institute of Agricultural Bioresource Fujian Academy of Agricultural SciencesFuzhou 350003China

Advancements in genomics have dramatically accelerated the research on medicinal plants,and the development of herbgenomics has promoted the“Project of 1K Medicinal Plant Genome”to decipher their genetic code.However,it is difficult to obtain their high-quality whole genomes because of the prevalence of polyploidy and/or high genomic heterozygosity.Whole genomes of 123 medicinal plants were published until September 2022.These published genome sequences were investigated in this review,covering their classification,research teams,ploidy,medicinal functions,and sequencing strategies.More than 1,000 institutes or universities around the world and 50 countries are conducting research on medicinal plant genomes.Diploid species account for a majority of sequenced medicinal plants.The whole genomes of plants in the Poaceae family are the most studied.Almost 40%of the published papers studied species with tonifying,replenishing,and heat-cleaning medicinal effects.Medicinal plants are still in the process of domestication as compared with crops,thereby resulting in unclear genetic backgrounds and the lack of pure lines,thus making their genomes more difficult to complete.In addition,there is still no clear routine framework for a medicinal plant to obtain a high-quality whole genome.Herein,a clear and complete strategy has been originally proposed for creating a high-quality whole genome of medicinal plants.Moreover,whole genome-based biological studies of medicinal plants,including breeding and biosynthesis,were reviewed.We also advocate that a research platform of model medicinal plants should be established to promote the genomics research of medicinal plants.

关键词： herbgenomics whole genome high throughput sequencing research strategy model species application

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Exciting lattice oxygen of nickel–iron bi-metal alkoxide for efficient electrochemical oxygen evolution reaction

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Journal of Energy Chemistry 2024年第1期88卷 194-201,I0005页

作者： Saihang Zhang Senchuan Huang Fengzhan Sun Yinghui li li Ren Hao Xu Zhao li yifei liu Wei li lina Chong Jianxin Zou National Engineering Research Center of light Alloy Net Forming&State Key Laboratory of Metal Matrix Composites Center of Hydrogen ScienceSchool of Materials Science and EngineeringShanghai Jiao Tong UniversityShanghai 200240China Department of Chemistry Laboratory of Advanced MaterialsShanghai Key Laboratory of Molecular Catalysis and Innovative MaterialsiChEM and State Key Laboratory of Molecular Engineering of PolymersCollege of Chemistry and MaterialsFudan UniversityShanghai 200433China

High efficiency,cost-effective and durable electrocatalysts are of pivotal importance in energy conversion and storage systems.The electro-oxidation of water to oxygen plays a crucial role in such energy conversion technologies.Herein,we report a robust method for the synthesis of a bimetallic alkoxide for efficient oxygen evolution reaction(OER)for alkaline electrolysis,which yields current density of 10 mA cm^(-2)at an overpotential of 215 mV in 0.1 M KOH electrolyte.The catalyst demonstrates an excellent durability for more than 540 h operation with negligible degradation in activity.Raman spectra revealed that the catalyst underwent structure reconstruction during OER,evolving into oxyhydroxide,which was the active site proceeding OER in alkaline electrolyte.In-situ synchrotron X-ray absorption experiment combined with density functional theory calculation suggests a lattice oxygen involved electrocatalytic reaction mechanism for the in-situ generated nickel–iron bimetal-oxyhydroxide catalyst.This mechanism together with the synergy between nickel and iron are responsible for the enhanced catalytic activity and durability.These findings provide promising strategies for the rational design of nonnoble metal OER catalysts.

关键词： Oxygen evolution reaction Nickel-iron bi-metal alkoxide Lattice oxygen-mediated reaction mechanism Alkaline electrolysis Electrocatalysts

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A five-parameter constitutive model for hysteresis shearing and energy dissipation of rock joints

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International Journal of Mining Science and Technology 2022年第4期32卷 737-746页

作者： Yikun li Tongbin Zhao yifei li Yang Chen College of Energy and Mining Engineering Shandong University of Science and TechnologyQingdao 266590China State Key Laboratory of Mining Disaster Prevention and Control Cofounded by Shandong Province and the Ministry of Science and Technology Shandong University of Science and TechnologyQingdao 266590China National Demonstration Center for Experimental Mining Engineering Education Shandong University of Science and TechnologyQingdao 266590China School of Civil and Transportation Engineering Qinghai Nationalities UniversityXining 810007China Shandong Energy Group Co. Ltd.Jinan 250014China

Rock joints exhibit hysteresis shearing behavior and produce energy dissipation under shear cyclic loads,which however cannot be accurately depicted by existing constitutive models. This paper establishes a constitutive model for hysteresis shearing and associated energy dissipation of rock joints. Analytical expressions of the model during cyclic shearing processes are derived. Derivation of the model indicates no energy dissipation in the elastic stage. When the shear load exceeds elastic boundary, nonlinear energy dissipation takes place. Validations with experiments show that the proposed model provides good conformities with direct shear curves and hysteresis loops, and can predict the energy dissipation characteristics of rock joints under different working conditions. Compared to the constitutive models using Weibull's distribution, the proposed one is smooth at the elastic boundary and can accurately capture the maximum shear stress. Unlike the existing incremental-type models, the proposed one provides clear and direct analytical expressions for both shear stress and energy dissipation during the whole displacement domain, which is more convenient in application.

关键词： Iwan model Rock joint Cyclic shear Hysteresis Energy dissipation

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GSW3.1,a novel gene controlling grain size and weight in rice

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The Crop Journal 2024年第3期12卷 796-802页

作者： yifei Jiang Mingao Zhou Simin Ke Xiaoxiao Deng Yangsheng li State Key Laboratory of Hybrid Rice Key Laboratory for Research and Utilization of Heterosis in Indica RiceMinistry of AgricultureCollege of Life SciencesWuhan UniversityWuhan 430072HubeiChina

Grain size and weight are closely related traits determining yield in rice(Oryza sativa L.).Since indica and japonica rice varieties differ significantly in multiple traits,a high-generation recombinant inbred line(RIL)population derived from the crossing LH9(indica)and RPY(japonica)was used to map grainrelated traits in six environments.Pyramiding of the quantitative trait loci(QTL)for thousand-grain weight showed that combinations of multiple QTL significantly increased the phenotypic effect.A novel gene named GSW3.1 controlling grain size and weight was discovered using the major QTL for the colocalization of grain width and thousand-grain weight on chromosome 3.Gene editing revealed that GSW3.1(LOC_Os03g16850)was pleiotropic,positively regulating grain size and weight while affecting several other agronomic traits.Haplotype analysis indicated that some traits,including grain width and weight,were highly correlated with indica-japonica differentiation.

关键词： Rice Grain size and weight 3.1(GSW3.1) Quantitative trait locus Haplotype analysis

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