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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141,DDHD2,and LHFPL5

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Frontiers of Medicine 2024年第1期18卷 81-97页

作者： Liwei sun Xueting yang Amjad Khan Xue yu Han Zhang Shirui Han Xiaerbati Habulieti yang sun Rongrong Wang Xue Zhang McKusick-Zhang Center for Genetic Medicine State Key Laboratory for Complex Severe and Rare DiseasesInstitute of Basic Medical Sciences Chinese Academy of Medical SciencesSchool of Basic Medicine Peking Union Medical CollegeBeijing100005China Chongqing Key Laboratory of Human Embryo Engineering Center for Reproductive MedicineNational Key Clinical Speciality Construction Project(Obstetrics and Gynecology)Chongqing Health Center for Women and ChildrenChongqing400013China Chongqing Clinical Research Center for Reproductive Medicine Women and Children’s Hospital of Chongqing Medical UniversityChongqing400013China Faculty of Biological Sciences Department of ZoologyUniversity of Lakki MarwatKhyber Pakhtunkhwa28420Pakistan Institute for Medical Genetics and Applied Genomics University of TübingenTübingen72076Germany Alexander von Humboldt fellowship Foundation Berlin10117Germany Department of Pediatrics The First Affiliated Hospital of Guangxi Medical UniversityNanning530000China Department of Laboratory Medicine State Key Laboratory for Complex Severe and Rare DiseasesPeking Union Medical College HospitalChinese Academy of Medical Science and Peking Union Medical CollegeBeijing100730China

Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and *** variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic ***,a Pakistani family with parental consanguinity was presented,characterized with severe intellectual disability(ID),spastic paraplegia,and *** mapping,integrated single nucleotide polymorphism(SNP)array,whole-exome sequencing,and whole-genome sequencing were performed,and homozygous variants in TMEM141(c.270G>A,***90^(*)),DDHD2(c.411+767_c.1249-327del),and LHFPL5(c.250delC,***84^(*))were identified.A Tmem141^(***90^(*)/***90^(*))mouse model was *** studies showed impairments in learning ability and motor *** slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje *** electron microscopy showed abnormal mitochondrial ***,studies on a human in vitro neuronal model(SH-Sy5y cells)with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function,possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse ***,panoramic variation analysis revealed that multilocus genomic variations of TMEM141,DDHD2,and LHFPL5 together caused variable phenotypes in ***,the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141

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PRX1-positive mesenchymal stem cells drive molar morphogenesis

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International Journal of Oral Science 2024年第2期16卷 293-305页

作者： Xiaoqiao Xu Xuyan Gong Lei Zhang Han Zhang yao sun Department of Implantology Stomatological Hospital and Dental School of Tongji UniversityShanghai Engineering Research Center of Tooth Restoration and RegenerationShanghaiChina

Mammalian teeth,developing inseparable from epithelial-mesenchymal interaction,come in many shapes and the key factors governing tooth morphology deserve to be *** merging single-cell RNA sequencing analysis with lineage tracing models,we have unearthed a captivating correlation between the contrasting morphology of mouse molars and the specific presence of PRX1^(+)cells within *** PRX1^(+)cells assume a profound responsibility in shaping tooth morphology through a remarkable divergence in dental mesenchymal cell *** into the mechanisms,we have discovered that Wnt5a,bestowed by mesenchymal PRX1^(+)cells,stimulates mesenchymal cell proliferation while orchestrating molar morphogenesis through WNT signaling *** loss of Wnt5a exhibits a defect phenotype similar to that of *** addition of WNT5A can successfully reverse the inhibited cell proliferation and consequent deviant appearance exhibited in Prx1-deficient tooth *** findings bestow compelling evidence of PRX1-positive mesenchymal cells to be potential target in regulating tooth morphology.

关键词： Wnt5a mesenchymal inhibited

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Sustained release of vascular endothelial growth factor A and basic fibroblast growth factor from nanofiber membranes reduces oxygen/glucose deprivation-induced injury to neurovascular units

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Neural Regeneration Research 2024年第4期19卷 887-894页

作者： yifang Wu Jun sun Qi Lin Dapeng Wang Jian Hai Department of Neurosurgery Tongji HospitalSchool of MedicineTongji University Department of Pharmacy Institute of Medical SciencesShanghai Jiao Tong University School of Medicine

Upregulation of vascular endothelial growth factor A/basic fibroblast growth factor(VEGFA/b FGF)expression in the penumbra of cerebral ischemia can increase vascular volume,reduce lesion volume,and enhance neural cell proliferation and differentiation,thereby exerting neuroprotective ***,the beneficial effects of endogenous VEGFA/b FGF are limited as their expression is only transiently *** this study,we generated multilayered nanofiber membranes loaded with VEGFA/b FGF using layer-by-layer self-assembly and electrospinning *** found that a membrane containing 10 layers had an ideal ultrastructure and could efficiently and stably release growth factors for more than 1 *** 10-layered nanofiber membrane promoted brain microvascular endothelial cell tube formation and proliferation,inhibited neuronal apoptosis,upregulated the expression of tight junction proteins,and improved the viability of various cellular components of neurovascular units under conditions of oxygen/glucose ***,this nanofiber membrane decreased the expression of Janus kinase-2/signal transducer and activator of transcription-3(JAK2/STAT3),Bax/Bcl-2,and cleaved ***,this nanofiber membrane exhibits a neuroprotective effect on oxygen/glucose-deprived neurovascular units by inhibiting the JAK2/STAT3 pathway.

关键词： brain ischemia brain microvascular endothelial cell nanofiber membrane neurovascular unit

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Asymmetric two-dimensional diffraction grating via a vortex field in an inverted-ytype atomic system

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Communications in Theoretical Physics 2024年第5期76卷 77-85页

作者： Duo Zhang Ke Wang Kunpeng Zhao Mei Wang Zhaoyu sun School of Electrical and Electronic Engineering Wuhan Polytechnic UniversityWuhan 430023China

We propose a theoretical scheme to realize a two-dimensional(2D)diffraction grating in a four-level inverted-y-type atomic system coupled by a standing-wave(SW)field and a Laguerre-Gaussian(LG)vortex *** to asymmetric spatial modulation of the LG vortex field,the incident probe field can be lopsidedly diffracted into four domains and an asymmetric 2D electromagnetically induced grating is *** adjusting the detunings of the probe field and the LG vortex field,the intensities of the LG vortex field and the coherent SW field,as well as the interaction length,the diffraction properties and efficiency,can be effectively *** addition,the effect of the azimuthal parameter on the Fraunhofer diffraction of the probe field is also *** asymmetric 2D diffraction grating scheme may provide a versatile platform for designing quantum devices that require asymmetric light transmission.

关键词： asymmetric diffraction grating standing-wave field Laguerre-Gaussian vortex field diffraction property

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Protein neddylation and its role in health and diseases

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Signal Transduction and Targeted Therapy 2024年第5期9卷 1869-1904页

作者： Shizhen Zhang Qing yu Zhijian Li yongchao Zhao yi sun Department of Breast Surgery the Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310029China Cancer Institute(Key Laboratory of Cancer Prevention and Intervention China National Ministry of Education)the Second Affiliated HospitalZhejiang University School of MedicineHangzhou 310029China Institute of Translational Medicine Zhejiang University School of MedicineHangzhou 310029China Department of Thyroid Surgery Zhejiang Cancer HospitalInstitute of Basic Medicine and Cancer(IBMC)Chinese Academy of SciencesHangzhou 310022China Key Laboratory of Head&Neck Cancer Translational Research of Zhejiang Province Hangzhou 310022China Department of Hepatobiliary and Pancreatic Surgery Zhejiang University School of MedicineHangzhou 310029China Zhejiang Provincial Key Laboratory of Pancreatic Disease The First Affiliated HospitalZhejiang University School of MedicineHangzhou 310029China Zhejiang University Cancer Center Hangzhou 310029China Leading Innovative and Entrepreneur Team Introduction Program of Zhejiang Hangzhou 310024China Research Center for Life Science and Human Health Binjiang Institute of Zhejiang UniversityHangzhou 310053China

NEDD8(Neural precursor cell expressed developmentally downregulated protein 8)is an ubiquitin-like protein that is covalently attached to a lysine residue of a protein substrate through a process known as neddylation,catalyzed by the enzyme cascade,namely NEDD8 activating enzyme(E1),NEDD8 conjugating enzyme(E2),and NEDD8 ligase(E3).The substrates of neddylation are categorized into cullins and non-cullin *** of cullins activates CRLs(cullin RING ligases),the largest family of E3 ligases,whereas neddylation of non-cullin substrates alters their stability and activity,as well as subcellular ***,the neddylation pathway and/or many neddylation substrates are abnormally activated or over-expressed in various human diseases,such as metabolic disorders,liver dysfunction,neurodegenerative disorders,and cancers,among ***,targeting neddylation becomes an attractive strategy for the treatment of these *** this review,we first provide a general introduction on the neddylation cascade,its biochemical process and regulation,and the crystal structures of neddylation enzymes in complex with cullin substrates;then discuss how neddylation governs various key biological processes via the modification of cullins and non-cullin *** further review the literature data on dysregulated neddylation in several human diseases,particularly cancer,followed by an outline of current efforts in the discovery of small molecule inhibitors of neddylation as a promising therapeutic ***,few perspectives were proposed for extensive future investigations.

关键词： NEDD8 attached attractive

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CircR-ZC3HC1 mediates MiR-384-5p/SIRT1 axis to promote neuronal autophagy and relieves ischemic stroke

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BIOCELL 2024年第3期48卷 491-499页

作者： MIN SHEN XIAOMAN XU GUANGLING sun LIANGZHU WANG TAO yING HANG SU WEI WANG QInghua CAO ZHEZHE sun Department of Neurology The First Affiliated Hospital of Ningbo UniversityNingbo315010China School of Medicine Ningbo UniversityNingbo315211China

Objective:Circular RNAs(circRNAs)have been shown to involve in pathological processes of ischemic stroke(IS),including *** study was designed to explore the effect of circR-ZC3HC1 on neuronal autophagy in IS and the related ***:Expression of circR-ZC3HC1 in blood samples of IS patients and healthy controls was *** neurons were treated with oxygen and glucose deprivation(OGD)to establish IS in vitro *** expression of LC3 and p62 and the number of autophagosomes were examined to evaluate the autophagy level of OGD induced neurons using western blotting and transmission electron *** apoptosis rate and the expression of cleaved caspase-3,Bax,and Bcl-2 were assessed byﬂow cytometry and western *** binding relationships among circR-ZC3HC1,miR-384-5p,and SIRT1 were predicted and veriﬁ***:Low expression of circR-ZC3HC1 was found in blood samples of IS patients and OGD-treated *** circR-ZC3HC1 or inhibited miR-384-5p expression promoted autophagy and inhibited apoptosis of OGD-treated neurons,which could be reversed by further 3-MA ***,circR-ZC3HC1 targeted miR-384-5p to mediate SIRT1 ***-384-5p overexpression or SIRT1 knockdown in the presence of circR-ZC3HC1 overexpression in OGD-treated neurons lead to reduced autophagy and enhanced ***:Collectively,circR-ZC3HC1 promoted neuronal autophagy to attenuate IS via miR-384-5p/SIRT1 axis.

关键词： Ischemic stroke circR-ZC3HC1 miR-384-5p SIRT1 Autophagy

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Aldh2 deficiency plays a dual role in lung tumorigenesis and tumor progression

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Genes & Diseases 2024年第3期11卷 144-147页

作者： Hongjia Zhang Xueqian sun Zhanming Li Tingting Liu Fang Zhang Xinyu Meng Kaimi Li Jianhua Xu Wei He Bo Jing Tong Wang Na Ni Beibei sun Feng yao yadi Wu Qi Wang Jing Du Eugene y.Chin Binhua P.Zhou Ping Jiang Lishun Wang Jiong Deng Key Laboratory of Cell Differentiation and Apoptosis of Chinese Minister of Education Department of PathophysiologyShanghai Jiao Tong University School of MedicineShanghai 200025China Shanghai Key Laboratory for Tumor Microenvironment and Inflammation Shanghai Jiao Tong University School of MedicineShanghai200025China Department of Pathology Kunming Medical UniversityKunmingYunnan 650500China Medical Research Center Binzhou Medical University HospitalBinzhouShandong 256600China Center for Traditional Chinese Medicine and Gut Microbiota Minhang HospitalFudan UniversityShanghai 201100China Department of Radiation Oncology Yantai Affiliated Hospital of Binzhou Medical UniversityYantaiShandong 264100China Department of Pathology Molecular Pathology Research CenterPeking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijing 100730China Department of Laboratory Medicine Shanghai Pulmonary Hospital Affiliated Tongji UniversityShanghai 200080China Department of Physiology School of Basic Medical SciencesWeifang Medical UniversityWeifangShandong 261021China Department of Thoracic Surgery Shanghai Chest HospitalShanghai Jiao Tong UniversityShanghai 200030China Department of Molecular and Celular Biochemistry Markey Cancer CenterUniversity of Kentucky College of MedicineLexingtonKY40506USA Department of Respiratory Medicine The Second Affiliated HospitalDalian Medical UniversityDalianLiaoning116023China Peninsular Cancer Center Binzhou Medical UniversityYantaiShandong 264003China

Alcohol consumption contributes to global mortality and cancer ***(ACE),the oxidized metabolite of alcohol,is highly reactive towards DNA,resulting in DNA *** can be detoxified to acetate by acetaldehyde dehydrogenase... 详细信息

关键词： mortality damage ALDH2

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A Li_(3)P nanoparticle dispersion strengthened ultrathin Li metal electrode for high energy density rechargeable batteries

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Nano Research 2024年第5期17卷 4031-4038页

作者： Lin Fu Xiancheng Wang Bao Zhang Zihe Chen yuanjian Li yongming sun Provincial Guizhou Key Laboratory of Green Chemical and Clean Energy Technology School of Chemistry and Chemical EngineeringGuizhou UniversityGuiyang 550025China Wuhan National Laboratory for Optoelectronics Huazhong University of Science and TechnologyWuhan 430074China School of Physical and Mathematical Sciences Nanyang Technological UniversitySingapore 637371Singapore Institute of Materials Research and Engineering Agency for Science Technology and Research(A*STAR)Singapore 138634Singapore

Achievement of lithium(Li)metal anode with thin thickness(e.g.,≤30µm)is highly desirable for rechargeable high energy density ***,the fabrication and application of such thin Li metal foil electrode remain challenging due to the poor mechanical processibility and inferior electrochemical performance of metallic ***,mechanico-chemical synthesis of robust ultrathin Li/Li_(3)P(LLP)composite foils(~15µm)is demonstrated by employing repeated mechanical rolling/stacking operations using red P and metallic Li as raw *** in-situ formed Li+-conductive Li_(3)P nanoparticles in metallic Li matrix and their tight bonding strengthen the mechanical durability and enable the successful fabrication of free-standing ultrathin Li metal composite ***,it also reduces the electrochemical Li nucleation barrier and homogenizes Li plating/stripping *** matching to high-voltage LiCoO_(2),the full cell with a low negative/positive(N/P)capacity ratio of~1.5 offers a high energy density of~522 W·h·kg^(-1) at 0.5 C based on the mass of cathode and *** into account its facile manufacturing,potentially low cost,and good electrochemical performance,we believe that such an ultrathin composite Li metal foil design with nanoparticle-dispersion-strengthened mechanism may boost the development of high energy density Li metal batteries.

关键词： lithium metal anode high energy density battery mechanico-chemical synthesis ultrathin Li/Li_(3)P composite foil low negative/positive capacity ratio

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Advancing flood susceptibility modeling using stacking ensemble machine learning: A multi-model approach

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Journal of Geographical Sciences 2024年第8期34卷 1513-1536页

作者： yANG Huilin yAO Rui DONG Linyao sun Peng ZHANG Qiang WEI yongqiang sun Shao AGHAKOUCHAK Amir School of Geography and Tourism Anhui Normal UniversityWuhu 241002AnhuiChina Changjiang River Scientific Research Institute Wuhan 430015China Advanced Interdisciplinary Institute of Environment and Ecology Beijing Normal UniversityZhuhai 519087GuangdongChina Hunan Institute of Water Resources and Hydropower Research Changsha 410007China State Key Laboratory of Severe Weather Chinese Academy of Meteorological SciencesBeijing 100081China Department of Civil and Environmental Engineering University of California IrvineIrvineCA 92697USA

Flood susceptibility modeling is crucial for rapid flood forecasting, disaster reduction strategies, evacuation planning, and decision-making. Machine learning(ML) models have proven to be effective tools for assessing flood susceptibility. However, most previous studies have focused on individual models or comparative performance, underscoring the unique strengths and weaknesses of each model. In this study, we propose a stacking ensemble learning algorithm that harnesses the strengths of a diverse range of machine learning models. The findings reveal the following:(1) The stacking ensemble learning, using RF-XGBCB-LR model, significantly enhances flood susceptibility simulation.(2) In addition to rainfall,key flood drivers in the study area include NDVI, and impervious surfaces. Over 40% of the study area, primarily in the northeast and southeast, exhibits high flood susceptibility, with higher risks for populations compared to cropland.(3) In the northeast of the study area,heavy precipitation, low terrain, and NDVI values are key indicators contributing to high flood susceptibility, while long-duration precipitation, mountainous topography, and upper reach vegetation are the main drivers in the southeast. This study underscores the effectiveness of ML, particularly ensemble learning, in flood modeling. It identifies vulnerable areas and contributes to improved flood risk management.

关键词： flood susceptibility assessment machine learning stacking ensemble learning flood drivers XiangjiangRiverBasin

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TcPO2 changes are more pronounced than SpO2 changes during simulated altitude changes in a hypobaric oxygen chamber: a nonrandomized controlled trial

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Emergency and Critical Care Medicine 2024年第3期4卷 105-110页

作者： Li y. Chen L. Fu Z. Wang Z. sun S. Luan X. Ma D. Hu T. School of Nursing and Rehabilitation Shandong University Shandong Jinan China Department of Emergency and Critical Care Medicine Qilu Hospital of Shandong University Shandong Jinan China Department of Pulmonary and Critical Care Medicine Qilu Hospital of Shandong University Shandong Jinan China Emergency Management Center of State Grid Shandong Electric Power Company Shandong Jinan China School of Nursing and Rehabilitation Cheeloo College of Medicine University of Shandong Department of Infection Control Qilu Hospital of Shandong University Shandong Jinan China School of Mechanical Engineering Shandong University Key Laboratory of the Ministry of Education for Efficient and Clean Machinery Manufacturing National Experimental Teaching Demonstration Center for Mechanical Engineering Shandong Jinan China

Background: Hypoxia is a significant risk factor of hypertension. However, no studies have used transcutaneous tissue partial pressure of oxygen (TcPO2) and partial pressure of carbon dioxide (TcPCO2) monitors to measure the respective partial pressures in healthy individuals. Oxygen saturation (SpO2) is often used for traditional monitoring of vital signs. This study investigated the changes in TcPO2 and SpO2 values during rapid changes in altitude. The trial was registered at *** (registration no. NCT06076057). Methods: Healthy adult volunteers were instructed to sit vertically in a hypobaric oxygen chamber, which ascended from 0 m to 2500 m at a uniform speed within 10 min. The Danish Radiometer TCM4 was used to measure TcPO2 and TcPCO2 with the ventral side of the upper arm as the measurement site. The Shenzhen Kerokan P0D-1 W pulse oximeter was used to measure heart rate and SpO2, with values recorded once every 500 m. Results: Altogether, 49 healthy volunteers were recruited between March 2023 and August 2023. With increasing altitude, TcPO2 and SpO2 decreased significantly (P y at 500 m (P y at 1000 m (P y significant changes in TcPO2 and SpO2 (P 500 m, statistical significance was identified between TcPO2 in both sexes (P y changing low-pressure hypoxic environments, TcPO2 changed more dramatically than SpO2 © Wolters Kluwer Health, Inc. All rights reserved.

关键词： Altitude change Low-pressure oxygen chamber Transcutaneous oxygen saturation Transcutaneous partial pressure of oxygen

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