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Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese Medical Journal 2011年第2期124卷 237-241页

作者： SIU Wai-kwan MA Ronald Ching-wan LAM Ching-wan MAK Chloe Miu YUEN Yuet-ping LO Fai-man Ivan CHAN Kin-wan LAM Siu-fung LING Siu-cheung TONG Sui-fan SO wing-yee CHOW Chun-chung TANG Mary Hoi-yin tam wing-hung CHAN Albert Yan-wo Department of Pathology Princess Margaret Hospital Hong Kong China Department of Medicine & Therapeutics The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China Department of Pathology Li Ka Shing Faculty of Medicine The University of Hong Kong Queen Mary Hospital Hong Kong China Clinical Genetic Service Department of Health Hong Kong China Department of Medicine and Geriatrics Princess Margaret Hospital Hong Kong China Department of Paediatrics and Adolescent Medicine Princess Margaret Hospital Hong Kong China Department of Obstetrics & Gynaecology Tsan Yuk Hospital Hong Kong China Department of Obstetrics & Gynaecology The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China

Background Von Hippel-Lindau （VHL） syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various *** genetic basis of VHL in Southern Chinese is largely *** this study,we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese *** Nine probands with clinical features of VHL,two symptomatic and eight asymptomatic family members were included in this *** diagnosis was performed twice for one *** probands had only isolated bilateral *** VHL gene was screened for mutations by polymerase chain reaction,direct sequencing and multiplex ligation-dependent probe amplification （MLPA）.Results The nine probands and the two symptomatic family members carried heterozygous germline *** different VHL mutations were identified in the nine *** splicing mutation,NM_000551.2：c.463＋1G〉T,was *** other seven VHL mutations,c.233A〉G [***78Ser],c.239G〉T [***80lle],c.319C〉G [***107Gly],c.481C〉T [***161X],c.482G〉A [***161GIn],c.499C〉T [***167Trp] and an exon 2 deletion,had been previously *** asymptomatic family members were positive for the mutation and the other five tested *** prenatal diagnosis,the fetuses were positive for the *** Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary *** detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their ***-based diagnosis can have an important impact on clinical management for VHL families.

关键词： von Hippel-Lindau syndrome VHL gene Chinese VHL mutations

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Managing type 2 diabetes:targeting a microbial enzyme as a novel treatment option

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Signal Transduction and Targeted Therapy 2024年第1期9卷 3-5页

作者： Anikó Keller-Pintér tamás Korcsmáros Tibor Vellai Department of Biochemistry Albert Szent-Györgyi Medical SchoolUniversity of SzegedSzeged6720Hungary Department of Metabolism Digestion and ReproductionImperial College LondonLondonW120NNUK Quadram Institute Bioscience Norwich Research ParkNorwichNR47UQUK Department of Genetics Eötvös Loránd University(ELTE)Budapest1117Hungary hungarian Research Network HUN-REN-ELTE Genetics Research Group Budapest1117Hungary

In a recent Science article,Wang and colleagues showed that the dipeptidyl peptidase 4(DPP4)enzyme produced by the gut microbiota can interfere with the effect of host glucagon-like peptide-1(GLP-1)involved in stimulating insulin secretion,and the specific inhibitor of microbial DPP4(mDPP4),combined with clinical inhibitors of host DPP4 isoenzymes,further promotes blood glucose homeostasis.1 These results point out why certain patients respond inadequately to an antidiabetic medication.

关键词： homeostasis stimulating clinical

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A deep neural network based surrogate model for damage identification in full-scale structures with incomplete noisy measurements

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Frontiers of Structural and Civil Engineering 2024年第3期18卷 393-410页

作者： Tram BUI-NGOC Duy-Khuong LY tam T TRUONG Chanachai THONGCHOM T.NGUYEN-THOI Laboratory for Computational Mechanics Institute for Computational Science and Artificial IntelligenceVan Lang UniversityHo Chi Minh City 70000Vietnam Faculty of Mechanical-Electrical and Computer Engineering School of TechnologyVan Lang UniversityHo Chi Minh City 70000Vietnam Faculty of Civil Engineering School of TechnologyVan Lang UniversityHo Chi Minh City 70000Vietnam Department of Computer Science Aarhus UniversityAarhus 8000Denmark Thammasat University research unit in structural and foundation engineering Department of Civil EngineeringThammasat UniversityPathumthani 12120Thailand Laboratory for Applied and Industrial Mathematics Institute for Computational Science and Artificial IntelligenceVan Lang UniversityHo Chi Minh City 70000Vietnam Thammasat School of Engineering Thammasat UniversityPathumthani 12120Thailand

The paper introduces a novel approach for detecting structural damage in full-scale structures using surrogate models generated from incomplete modal data and deep neural networks(DNNs).A significant challenge in this field is the limited availability of measurement data for full-scale structures,which is addressed in this paper by generating data sets using a reduced finite element(FE)model constructed by SAP2000 software and the MATLAB programming *** surrogate models are trained using response data obtained from the monitored structure through a limited number of measurement *** proposed approach involves training a single surrogate model that can quickly predict the location and severity of damage for all potential *** achieve the most generalized surrogate model,the study explores different types of layers and hyperparameters of the training algorithm and employs state-of-the-art techniques to avoid overfitting and to accelerate the training *** approach’s effectiveness,efficiency,and applicability are demonstrated by two numerical *** study also verifies the robustness of the proposed approach on data sets with sparse and noisy measured ***,the proposed approach is a promising alternative to traditional approaches that rely on FE model updating and optimization algorithms,which can be computationally *** approach also shows potential for broader applications in structural damage detection.

关键词： vibration-based damage detection deep neural network full-scale structures finite element model updating noisy incomplete modal data

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Assessing the Performance of a Dynamical Downscaling Simulation Driven by a Bias-Corrected CMIP6 Dataset for Asian Climate

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Advances in Atmospheric Sciences 2024年第5期41卷 974-988页

作者： Zhongfeng XU Ying HAN Meng-Zhuo ZHANG Chi-Yung tam Zong-Liang YANG Ahmed M.EL KENAWY Congbin FU Institute of Atmospheric Physics Chinese Academy of SciencesBeijing 100029China School of Atmospheric Sciences Nanjing UniversityNanjing 210093China Earth System Science Programme The Chinese University of Hong KongHong KongChina Department of Geological Sciences Jackson School of GeosciencesThe University of Texas at AustinAustinTexasUSA Instituto Pirenaico de Ecología Consejo Superior de Investigaciones Científicas(CSIC)Campus de Aula Dei1005Zaragoza 50059Spain Department of Geography Mansoura UniversityMansoura 35516Egypt

In this study,we aim to assess dynamical downscaling simulations by utilizing a novel bias-corrected global climate model(GCM)data to drive a regional climate model(RCM)over the Asia-western North Pacific *** simulations were conducted with a 25-km grid spacing for the period 1980–*** first simulation(WRF_ERA5)was driven by the European Centre for Medium-Range Weather Forecasts Reanalysis 5(ERA5)dataset and served as the validation *** original GCM dataset(MPI-ESM1-2-HR model)was used to drive the second simulation(WRF_GCM),while the third simulation(WRF_GCMbc)was driven by the bias-corrected GCM *** bias-corrected GCM data has an ERA5-based mean and interannual variance and long-term trends derived from the ensemble mean of 18 CMIP6 *** demonstrate that the WRF_GCMbc significantly reduced the root-mean-square errors(RMSEs)of the climatological mean of downscaled variables,including temperature,precipitation,snow,wind,relative humidity,and planetary boundary layer height by 50%–90%compared to the WRF_***,the RMSEs of interannual-tointerdecadal variances of downscaled variables were reduced by 30%–60%.Furthermore,the WRF_GCMbc better captured the annual cycle of the monsoon circulation and intraseasonal and day-to-day *** leading empirical orthogonal function(EOF)shows a monopole precipitation mode in the WRF_*** contrast,the WRF_GCMbc successfully reproduced the observed tri-pole mode of summer precipitation over eastern *** improvement could be attributed to a better-simulated location of the western North Pacific subtropical high in the WRF_GCMbc after GCM bias correction.

关键词： bias correction multi-model ensemble mean dynamical downscaling interannual variability day-to-day variability validation

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The Immense Impact of Reverse Edges on Large Hierarchical Networks

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Engineering 2024年第5期36卷 240-249页

作者： Haosen Cao Bin-Bin Hu Xiaoyu Mo Duxin Chen Jianxi Gao Ye Yuan Guanrong Chen tamás Vicsek Xiaohong Guan Hai-Tao Zhang MOE Engineering Research Center of Autonomous Intelligent Unmanned Systems State Key Laboratory of Intelligent Manufacturing Equipment and TechnologySchool of Artificial Intelligence and AutomationHuazhong University of Science and TechnologyWuhan 430074China School of Mechanical and Aerospace Engineering Nanyang Technological UniversitySingapore 639798Singapore Jiangsu Key Laboratory of Networked Collective Intelligence School of MathematicsSoutheast UniversityNanjing 210096China Department of Computer Science Rensselaer Polytechnic InstituteTroyNY 12180USA Department of Electronic Engineering City University of Hong KongHong Kong 999077China Department of Biological Physics Eötvös UniversityBudapest 1117Hungary MOE Key Laboratory for Intelligent Networks and Network Security School of Automation Science and EngineeringXi’an Jiaotong UniversityXi’an 710049China

Hierarchical networks are frequently encountered in animal groups,gene networks,and artificial engineering systems such as multiple robots,unmanned vehicle systems,smart grids,wind farm networks,and so *** structure of a large directed hierarchical network is often strongly influenced by reverse edges from lower-to higher-level nodes,such as lagging birds’howl in a flock or the opinions of lowerlevel individuals feeding back to higher-level ones in a social *** study reveals that,for most large-scale real hierarchical networks,the majority of the reverse edges do not affect the synchronization process of the entire network;the synchronization process is influenced only by a small part of these reverse edges along specific *** surprisingly,a single effective reverse edge can slow down the synchronization of a huge hierarchical network by over 60%.The effect of such edges depends not on the network size but only on the average in-degree of the involved *** overwhelming majority of active reverse edges turn out to have some kind of“bunching”effect on the information flows of hierarchical networks,which slows down synchronization *** finding refines the current understanding of the role of reverse edges in many natural,social,and engineering hierarchical networks,which might be beneficial for precisely tuning the synchronization rhythms of these *** study also proposes an effective way to attack a hierarchical network by adding a malicious reverse edge to it and provides some guidance for protecting a network by screening out the specific small proportion of vulnerable nodes.

关键词： Synchronizability Large hierarchical networks Reverse edges Information flows Complex networks

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A Multilayer Network Constructed for Herb and Prescription Efficacy Analysis

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Computer Systems Science & Engineering 2024年第3期48卷 691-704页

作者： Xindi Huang Liwei Liang Sakirin tam Hao Liang Xiong Cai Changsong Ding School of Informatics Hunan University of Chinese MedicineChangsha410208China Faculty of Science and Information Technology Phnom Penh International UniversityPhnom Penh12253Cambodia Institute of TCM Diagnostics Hunan University of Chinese MedicineChangsha410208China Institute of Innovation and Applied Research in Chinese Medicine Hunan University of Chinese MedicineChangsha410208China Big Data Analysis Laboratory of Traditional Chinese Medicine Hunan University of Chinese MedicineChangsha410208China

Chinese Medicine(CM)has been widely used as an important avenue for disease prevention and treatment in China especially in the form of CM prescriptions combining sets of herbs to address patients’symptoms and ***,the selection and compatibility of herbs are complex and abstract due to intrinsic relationships between herbal properties and their overall *** analysis is applied to demonstrate the complex relationships between individual herbal efficacy and the overall function of CM *** illustrate their connections and correlations,prescription function(PF),prescription herb(PH),and herbal efficacy(HE)intranetworks are proposed based on CM theory to identify relationships between herbs and *** three networks are then connected by PF-PH and PH-HE interlayer networks adopting herb dosage to form a multidimensional heterogeneous network,a Prescription-Herb-Function Network(PHFN).The network is applied to 112 classic prescriptions from Treatise on Exogenous Febrile and Miscellaneous Diseases to illustrate the application of *** PHFN is constructed including 146 functions in PF intra network,89 herbs in the PH intra network,and 163 herbal efficacies in the HE intra *** results show that herb pairs with synergistic actions have stronger relevance,such as licorice-cassia twig,licorice-Chinese date,fresh ginger-Chinese date,*** integration of dosage to the network helps to indicate the main herbs for cluster analysis and automatic *** also reveals the internal relationships between the functions of prescriptions and composed herbal efficacies.

关键词： Chinese medicine herb formula network analysis herb dosage

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Tungsten-based nanocatalysts with different structures for visible light responsive photocatalytic degradation of bisphenol A

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Journal of Environmental Sciences 2024年第5期139卷 569-588页

作者： Hai Bang Truong Thi Thu Loan Doan Nguyen Tien Hoang Nguyen Van tam Minh Kim Nguyen Le Gia Trung Jin Seog Gwag Nguyen Tien Tran Optical Materials Research Group Science and Technology Advanced InstituteVan Lang UniversityHo Chi Minh CityViet Nam Faculty of Applied Technology School of TechnologyVan Lang UniversityHo Chi Minh CityViet Nam The University of Da Nang University of Science and Technology54 Nguyen Luong BangDa NangViet Nam The University of Da Nang University of Science and Education459 Ton Duc Thang St.Lien ChieuDa Nang 550000Viet Nam Institute of Veterinary Science and Technology 31ha zoneTrau QuyGia LamHa Noi 12400Viet Nam Department of Physics Yeungnam UniversityGyeongsanGyeongbuk 38541Republic of Korea Center for Advanced Chemistry Institute of Research and DevelopmentDuy Tan University03 Quang TrungDa Nang 550000Viet Nam Faculty of Natural Sciences Duy Tan University03 Quang TrungDa Nang 550000Viet Nam

Environmental pollution,such as water contamination,is a critical issue that must be absolutely ***,three different morphologies of tungsten-based photocatalysts(WO_(3)nanorods,WO_(3)/WS_(2)nanobricks,WO_(3)/WS_(2)nanorods)are made using a simple hydrothermal method by changing the solvents(H_(2)O,DMF,aqueous HCl solution).The as-prepared nanocatalysts have excellent thermal stability,large porosity,and high *** results show all materials have good photocatalytic activity in aqueous media,with WO_(3)/WS_(2)nanorods(NRs)having the best activity in the photodegradation of bisphenol A(BPA)under visible-light *** may originate from increased migration of charge carriers and effective prevention of electron–hole recombination in WO_(3)/WS_(2)NRs,whereby this photocatalyst is able to generate more reactive·OH and·O_(2)^(–)species,leading to greater photocatalytic *** 99.6% of BPA is photodegraded within 60 min when using 1.5 g/L WO_(3)/WS_(2)NRs and 5.0 mg/L BPA at pH ***,the optimal conditions(pH,catalyst dosage,initial BPA concentration)for WO_(3)/WS_(2)NRs are also elaborately *** rod-like heterostructures are expressed as potential catalysts with excellent photostability,efficient reusability,and highly active effectivity in different types of *** particular,the removal efficiency of BPA by WO_(3)/WS_(2)NRs reduces by only 1.5% after five recycling runs and even reaches 89.1%in contaminated lake *** study provides promising insights for the nearly complete removal of BPA from wastewater or different water resources,which is advantageous to various applications in environmental remediation.

关键词： Photodegradation Bisphenol A Tungsten-based nanocatalyst Structure Nanorod

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Broad-spectrum ginsentides are principal bioactives in unraveling the cure-all effects of ginseng

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Acta Pharmaceutica Sinica B 2024年第2期14卷 653-666页

作者： Shining Loo Antony Kam Bamaprasad Dutta Xiaohong Zhang Nan Feng Siu Kwan Sze Chuan-Fa Liu Xiaoliang Wang James P.tam School of Biological Sciences Nanyang Technological UniversitySingapore 637551Singapore Academy of Pharmacy Xi’an Jiaotong-Liverpool UniversitySuzhou 215123China Department of Biological Sciences Xi’an Jiaotong-Liverpool UniversitySuzhou 215123China Institute of Materia Medica Chinese Academy of Medical SciencesBeijing 100050China Department of Health Sciences Brock UniversityNiagara RegionON L2S 3A1Canada

Stress and illness connection is complex and involves multiple physiological *** ginsengs,reputed for their broad-spectrum“cure-all”effect,are widely prescribed to treat stress and related ***,the identity of ginseng’s“cure-all”medicinal compounds that relieve stress remains ***,we identify ginsentides as the principal bioactives that coordinate multiple systems to restore homeostasis in response to *** are disulfide-rich,cell-penetrating and proteolytic-stable *** affinity-enrichment mass spectrometry target identification together with in vitro,ex vivo and in vivo validations,we show that highly purified or synthetic ginsentides promote vasorelaxation by producing nitric oxide through endothelial cells via intracellular PI3K/Akt signaling pathway,alleviate a1-adrenergic receptor overactivity by reversing phenylephrine-induced constriction of aorta,decrease monocyte adhesion to endothelial cells via CD166/ESAM/CD40 and inhibit P2Y12 receptors to reduce platelet *** administered ginsentides were effective in animal models to reduce ADP-induced platelet aggregation,to prevent collagen and adrenalineinduced pulmonary thrombosis as well as anti-stress behavior of tail suspension and forced swimming tests in ***,these results strongly suggest that ginsentides are the principal panacea compounds of ginsengs because of their ability to target multiple extra-and intra-cellular proteins to reverse stress-induced damages.

关键词： Ginseng Cysteine-rich peptides Microproteins Cure-all Stress Homeostasis

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A concise review on surface and structural modification of porous zeolite scaffold for enhanced hydrogen storage

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Chinese Journal of Chemical Engineering 2024年第6期70卷 33-53页

作者： B.A.Abdulkadir R.S.R.Mohd Zaki A.T.Abd Wahab S.N.Miskan Anh-tam Nguyen Dai-Viet N.Vo H.D.Setiabudi Centre for Research in Advanced Fluid&Processes Universiti Malaysia Pahang Al-Sultan AbdullahLebuh Persiaran Tun Khalil YaakobGambangPahang 26300Malaysia Faculty of Chemical&Process Engineering Technology Universiti Malaysia Pahang Al-Sultan AbdullahLebuh Persiaran Tun Khalil YaakobGambangPahang 26300Malaysia Center of Excellence for Green Energy and Environmental Nanomaterials(CE@GrEEN) Nguyen Tat Thanh University300A Nguyen Tat ThanhDistrict 4Ho Chi Minh City 755414Viet Nam

Investigating zeolites as hydrogen storage scaffolds is imperative due to their porous nature and favorable physicochemical ***,the storage capacity of the unmodified zeolites has been rather unsatisfactory(0.224%-1.082%(mass))compared to its modified ***,the contemporary focus on enhancing hydrogen storage capacities has led to significant attention towards the utilization of modified zeolites,with studies exploring surface modifications through physical and chemical treatments,as well as the integration of various active *** enhanced hydrogen storage properties of zeolites are attributed to the presence of aluminosilicates from alkaline and alkaline-earth metals,resulting in increased storage capacity through interactions with the charge density of these ***,there is a great demand to critically review their role such as well-defined topology,pore structure,good thermal stability,and tunable hydrophilicity in enhanced hydrogen *** article aimed to critically review the recent research findings based on modified zeolite performance for enhanced hydrogen *** of the factors affecting the hydrogen storage capacities of zeolites that can affect the rate of reaction and the stability of the adsorbent,like pressure,structure,and morphology were studied,and ***,future perspectives,recommendations,and directions for modified zeolites were discussed.

关键词： Zeolites Hydrogen storage Surface modification Adsorption Active metal

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ALS-linked C9orf72 dipeptide repeats inhibit starvation-induced autophagy through modulating BCL2–BECN1 interaction

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Acta Pharmaceutica Sinica B 2024年第5期14卷 2026-2038页

作者： Shiqiang Xu Qilian Ma Junwen Shen Ningning Li Shan Sun Nana Wang Yang Chen Chunsheng Dong Kin Yip tam Jochen H.M.Prehn Hongfeng Wang Zheng Ying Jiangsu Key Laboratory of Neuropsychiatric Diseases and College of Pharmaceutical Sciences Soochow UniversitySuzhou 215123China MOE Key Laboratory of Geriatric Diseases and Immunology College of Pharmaceutical SciencesSuzhou Medical College of Soochow UniversitySuzhou 215123China Jiangsu Province Engineering Research Center of Precision Diagnostics and Therapeutics Development Soochow UniversitySuzhou 215123China Dept.of Physiology&Medical Physics and FUTURE-NEURO Research Centre Royal College of Surgeons in IrelandDublin D02 YN77Ireland Faculty of Health Sciences University of MacaoTaipaMacao 999078China Insititutes of Biology and Medical Science Soochow UniversitySuzhou 215123China

Growing evidences indicate that dysfunction of autophagy contributes to the disease pathogenesis of amyotrophic lateral sclerosis(ALS)and frontotemporal dementia(FTD),two neurodegenerative *** GGGGCC·GGCCCC repeat RNA expansion in chromosome 9 open reading frame 72(C9orf72)is the most genetic cause of both ALS and *** to the previous studies,GGGGCC·GGCCCC repeat undergoes the unconventional repeat-associated non-ATG translation,which produces dipeptide repeat(DPR)*** there is a growing understanding that C9orf72 DPRs have a strong ability to harm neurons and induce C9orf72-linked ALS/FTD,whether these DPRs can affect autophagy remains *** the present study,we find that poly-GR and poly-PR,two arginine-containing DPRs which display the most cytotoxic properties according to the previous studies,strongly inhibit starvation-induced ***,our data indicate that arginine-rich DPRs enhance the interaction between BCL2 and BECN1/Beclin 1 by inhibiting BCL2 phosphorylation,therefore they can impair autophagic clearance of neurodegenerative disease-associated protein aggregates under starvation condition in ***,our study not only highlights the role of C9orf72 DPR in autophagy dysfunction,but also provides novel insight that pharmacological intervention of autophagy using SW063058,a small molecule compound that can disrupt the interaction between BECN1 and BCL2,may reduce C9orf72 DPR-induced neurotoxicity.

关键词： Amyotrophic lateral sclerosis Frontotemporal dementia C9orf72 Autophagy BCL2 BECN1/Beclin 1 Dipeptide repeat Neurodegeneration

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