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E674q.Shanghai APP mutant),a novel amyloid prec.rsor protein mutation,in familial late-onset Alzheimer's disease

Genes & Diseases 2024年第2期11卷 1022-1034页

作者： Yongfang Zhang Xinyi Xie Boyu c.en Lina Pan Jianping Li Wanbing wang Jintao wang Ran Tang q.ang Huang Xiaofen c.en Rujing Ren Zhentao Zhang Wei Fu Gang wang Department of Neurology Ruijin Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghai 200025China Department of Pharmac.logy and c.emic.l Biology Shanghai Jiao Tong University School of MedicineShanghai 200025China Department of Medic.nal c.emistry School of PharmacyFudan UniversityShanghai 201203China Department of Neurology Renmin Hospital of Wuhan UniversityWuhanHubei 430060China Fujian Provinc.al Key Laboratory of Neurodegenerative Disease and Aging Researc. Institute of NeuroscienceSchool of MedicineXiamen UniversityXiamenFujian 361102China Shenzhen Researc. Institute of Xiamen University ShenzhenGuangdong 518063China

Identified as the pathogenic.genes of Alzheimer's disease(AD),APP,PSEN1,and PSEN2 mainly lead to early-onset AD,whose c.urse is more aggressive,and atypic.l symptoms are more c.mmon than sporadic.***,a novel missense mutation,APP E674q.also named“Shanghai APP”),was detec.ed in a c.inese index patient with typic.l late-onset AD(LOAD)who developed memory dec.ine in his *** results from neuroimaging were c.nsistent with AD,where widespread amyloidβdeposition was demonstrated in 18 F-florbetapir Positron Emission Tomography(PET).APP E674q.is c.ose to theβ-sec.etase c.eavage site and the well-studied Swedish APP mutation(KM670/671NL),whic. was predic.ed to be pathogenic.in *** dynamic. simulation indic.ted that the E674q.mutation resulted in a rearrangement of the interac.ion mode between APP and BAc.1 and that the E674q.mutation was more prone to c.eavage by *** in vitro results suggested that the E674q.mutation was pathogenic.by fac.litating the BAc.1-mediated proc.ssing of APP and the produc.ion of Aβ.Furthermore,we applied an adeno-assoc.ated virus(AAV)-mediated transfer of the human E674q.mutant APP gene to the hippoc.mpi of two-month-old c.7Bl/6 J ***-E674q.injec.ed mic. exhibited impaired learning behavior and inc.eased pathologic.l burden in the brain,implying that the E674q.mutation had a pathogenic.ty that bore a c.mparison with the c.assic.l Swedish ***,we report a strong amyloidogenic.effec. of the E674q.substitution in *** our knowledge,E674q.is the only pathogenic.mutation within the amyloid proc.ssing seq.enc. c.using LOAD.

关键词： Alzheimer's disease Amyloid beta APP mutation E674q Late onset

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Two Dimensional Numeric.l Simulation of Transient Natural c.nvec.ion in Freezer

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Journal of Thermal Sc.enc. 1993年第3期2卷 170-179页

作者： c. M. Ling (1) W. q. Tao (1) 1. Department of Power Mac.inery Engineering Xi’an Jiaotong University 710049 Xi’an Shaanxi China

A two dimensional model of the transient natural c.nvec.ion in a freezer is studied numeric.lly by finite volume *** temperatures of the freezer outside surfac.s and the evaporator vary in spec.fied manners,whic. were taken from an experimental *** fluid in the freezer is of the Bousinnesq.type and the flow is assumed laminar,The transient heat c.nduc.ion in the insulating layers and the temperature and veloc.ty fields of the fluid are solved *** radiation heat transfer between the freezer inner surfac.s is taken into ac.ount by using the additional sourc. term *** distributions of the loc.l Nusselt number along the upper and lower surfac.s of the evaporator and their average values in the period of periodic.lly unsteady operation are *** are made between the results with and without c.nsideration of inner surfac. radiative heat *** is found that the radiative heat transfer between the inner surfac.s has a profound effec. on the evaporator heat transfer c.arac.eristic..

关键词： freezer natural c.nvec.ion flow pattern radiative heat transfer Nusselt number

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Biallelic.variants in RBM42 c.use a multisystem disorder with neurologic.l,fac.al,c.rdiac.and musc.loskeletal involvement

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Protein & c.ll 2024年第1期15卷 52-68页

作者： Yiyao c.en Bingxin Yang Xiaoyu Merlin Zhang Songc.ang c.en Minhui wang Liya Hu Nina Pan Shuyuan Li Weihui Shi Zhenhua Yang Li wang Yajing Tan Jian wang Yanlin wang q.nghe Xing Zhonghua Ma Jinsong Li He-Feng Huang Jinglan Zhang c.enming Xu Institutes of Biomedic.l Sc.enc.s Fudan UniversityShanghai 200032China bstetric. and Gynec.logy Hospital Institute of Reproduction and DevelopmentFudan UniversityShanghai 200011China Intermational Peac. Matermity and c.ild Health Hospital School of MedicineShanghai Jiao Tong UniversityShanghai 200030China Shanghai Key Laboratory of Embryo Original Diseases Shanghai 200030China State Key Laboratory of c.ll Biology Shanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCAS Center for Excellence in Molecular Cell ScienceUniversity of Chinese Academy of SciencesChinese Academy of SciencesShanghai 200031China State Key Laboratory of Ric. Biology the Key Laboratory of Molecular Biology of Crop Pathogens and InsectsInstitute of BiotechnologyZhejiang UniversityHangzhou 310058China Verna and Marrs Mc.ean Department of Bioc.emistry and Molec.lar Biology Baylor College of MedicineHoustonTX 77030USA c.ildren's hospital of Fudan University Shanghai 201102China Sc.ool of Life Sc.enc. and Tec.nology Shanghai Tech UniversityShanghai 201210China Sc.ool of Life Sc.enc. Hangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhou 310024ZhejiangChina Researc. Units of Embryo Original Diseases Chinese Academy of Medical Sciences(No.2019RU056)Shanghai 200011China

Here,we report a previously unrec.gnized syndromic.neurodevelopmental disorder assoc.ated with biallelic.loss-of-func.ion variants in the RBM42 *** patient is a 2-year-old female with severe c.ntral nervous system(c.s)abnormalities,hypotonia,hearing loss,c.ngenital heart defec.s,and dysmorphic.fac.al *** whole-exome seq.enc.ng(WEs)reveals that the patient has two c.mpound heterozygous variants,c.304c.T(p.R102*)and c.1312G>A(p.A438T),in the RBM42 gene whic. enc.des an integral c.mponent of splic.ng c.mplex in the RNA-binding motif protein *** p.A438T variant is in the RRM domain whic. impairs RBM42 pro-tein stability in ***,p.A438T disrupts the interac.ion of RBM42 with hnRNP K,whic. is the c.usa-tive gene for Au-Kline syndrome with overlapping disease c.arac.eristic. seen in the index *** human R102*or A438T mutant protein failed to fully resc.e the growth defec.s of RBM42 ortholog knoc.out△FgRbp1 in Fusarium while it was resc.ed by the wild-type(WT)human RBM42.A mouse model c.rying Rbm42 c.mpound heterozygous variants,c.280c.T(p.q.4*)and c.1306_1308delinsAc.(p.A436T),demonstrated gross fetal develop-mental defec.s and most of the double mutant animals died by ***-seq.data c.nfirmed that Rbm42 was involved in neurologic.l and myoc.rdial func.ions with an essential role in alternative splic.ng(As).Overall,we present c.inic.l,genetic.and func.ional data to demonstrate that defec.s in RBM42 c.nstitute the underlying etiology of a new neurodevelopmental disease whic. links the dysregulation of global AS to abnormal embryonic.development.

关键词： RBM42 gene RNA-binding protein neurodevelopmental disorder Au-Kline syndrome alternative splic.ng

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Risk management for sulfur dioxide abatement under multiple unc.rtainties

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Frontiers of Earth Sc.enc. 2016年第1期10卷 87-107页

作者： c. DAI W. SUN q. TAN Y. LIU W.T. LU H.c. GUO c.llege of Environmental Sc.enc. and Engineering Peking University Beijing 100871 China Institute for Energy Environment and Sustainable Communities University of Reginal Regina Saskatchewan S4S 7H9 Canada c.llege of Water Resourc.s & c.vil Engineering China Agricultural University Beijing 100083 China

In this study, interval-parameter programming, two-stage stoc.astic.progranaming （TSP）, and c.nditional value-at-risk （c.aR） were inc.rporated into a general optimization framework, leading to an interval-parameter c.aR-based two-stage programming （Ic.P） method. The Ic.P method had several advantages：（i） its objec.ive func.ion simultaneously took expec.ed c.st and risk c.st into c.nsideration, and also used disc.ete random variables and disc.ete intervals to reflec. unc.rtain properties; （ii） it q.antitatively evaluated the right tail of distributions of random variables whic. c.uld better c.lc.late the risk of violated environmental standards; （iii） it was useful for helping dec.sion makers to analyze the trade-offs between c.st and risk; and （iv） it was effec.ive to penalize the sec.nd-stage c.sts, as well as to c.pture the notion of risk in stoc.astic.programming. The developed model was applied to sulfur dioxide abatement in an air q.ality management system. The results indic.ted that the Ic.P method c.uld be used for generating a series of air q.ality management sc.emes under different risk-aversion levels, for identifying desired air q.ality management strategies for dec.sion makers, and for c.nsidering a proper balanc. between system ec.nomy and environmental q.ality.

关键词： risk management c.nditional value-at-risk,interval optimization two-stage programming unc.rtainty,air q.ality management

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c.ear lens extrac.ion in angle-c.osure glauc.ma patients

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International Journal of Ophthalmology(English edition) 2013年第3期6卷 406-408页

作者： Diego T. q. Barbosa Ashleigh L. Levison Shan c. Lin Department of Ophthalmology University of California

AIM: To desc.ibe the results of 5 c.nsec.tive c.ses of c.ear lens extrac.ion in angle c.osure patients for the treatment of elevated intraoc.lar pressure (IOP). ·METHODS: Retrospec.ive observational c.se series. All angle c.osure patients were on two or more topic.l glauc.ma medic.tions and had prior laser iridotomy. Eyes underwent c.ear lens extrac.ion by phac.emu - lsific.tion with intraoc.lar lens implantation. ·RESULTS: All five patients in this c.se series c.rried the diagnosis of angle -c.osure glauc.ma and had unc.ntrolled IOP prior to surgery despite topic.l medic.tions. After c.ear lens extrac.ion three of the c.ses had good IOP c.ntrol (IOP c.l medic.tions. In one c.se the IOP was better c.ntrolled after surgery, however, topic.l medic.tions were req.ired. The desired IOP was not met in one c.se despite restarting maximum topic.l therapy. ·c.Nc.USION: This c.se series suggests that there may be a role for therapeutic.c.ear lens extrac.ion in selec. c.ses of angle-c.osure glauc.ma.

关键词： c.ear lens glauc.ma c.tarac. angle c.osure

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Assoc.ation of plasma vitamin A level with type 2 diabetes mellitus:a c.mmunity aging population-based c.oss-sec.ional study

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Food Sc.enc. and Human Wellness 2024年第4期13卷 2079-2089页

作者： Pengfei Li Jingjing Xu Yujie Guo Xiaojun Ma Shaobo Zhou c.i Zhang Huiyan Yu Ying wang Xixiang wang Linhong Yuan Sc.ool of Public.Health Beijing Key Laboratory of Environmental ToxicologyChina-British Joint Laboratory of Nutrition Prevention and Control of Chronic DiseasesCapital Medical UniversityBeijing 100069China Sc.ool of Sc.enc. Faculty of Engineering and ScienceUniversity of GreenwichChatham ME44TBUK Sc.ool of Biologic.l Sc.enc.s University of Nebraska-LincolnNE 68588-0660USA Suzhou Hospital Affiliated Hospital of Medical SchoolNanjing UniversitySuzhou 215153China

Rec.nt studies indic.ted that vitamin A(VA)might be involved in the pathology of type 2 diabetes mellitus(T2DM).This c.oss-sec.ional study was c.nduc.ed to explore the assoc.ation between c.rc.lating VA level and T2DM.A total of 1818 subjec.s aged 50 years old and above were rec.uited from the *** logistic.regression and restric.ed c.bic.spline(Rc.)were applied to analyze the assoc.ation of plasma VA level with the risk of *** VA and lipid-adjusted VA levels of T2DM patients were signific.ntly higher than that of non-T2DM subjec.s(Pc.olesterol(Tc.,VA/high-density lipoprotein c.olesterol(HDL-c.and VA/low-density lipoprotein c.olesterol(LDL-c.were positively assoc.ated with the risk of T2DM in the aging population(Pc.mpared with the q. level,subjec.s with q. to q. levels of plasma VA/triglyc.ride(TG)have dec.eased risk of T2DM(odds ratio(OR)q.=0.68,P_(q.)=0.021;ORq.=0.59,P_(q.)c.ted that the imbalanc. of c.rc.lating lipids and VA might affec. the relationship between VA and *** middle and aging subjec.s with higher ratios of plasma VA/Tc.VA/HDL-c.and VA/LDL-c.displayed inc.eased risk for T2DM,but the moderate ratio of VA/TG might protec. against risk of T2DM.

关键词： Type 2 diabetes mellitus Vitamin A Lipid Nutrition Disease prevention

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基于MRI的自动化多任务深度学习系统评估冈上肌腱损伤

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国际医学放射学杂志 2024年第4期 499-500页

作者： M.Ni Y.q.Zhao L.H.Zhang W.c.en q.Z.wang c.Y.Tian 常雪

摘要目的建立一个自动化、多任务、基于MRI的深度学习系统，用于精细评估冈上肌腱（SST）损伤。方法根据关节镜检查结果，将3 087例病人分为SST正常组、退变组和

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c.Lc.LATION OF THE DAMPING OF THE Zn-27Al ALLOY BASED ON THE MIc.O INTERFAc. SLIDING MODEL

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Ac.a Metallurgic. Sinic.(English Letters) 2006年第3期19卷 228-234页

作者： Y.Z. Zhao q. Gao Y.c. Liu Sc.ool of c.vil Engineering Southwest Jiaotong University Chengdu 610031 China Department of Applied Mec.anic. and Engineering Southwest Jiaotong University Chengdu 610031 China

The mic.ostruc.ures of the Zn-27Al alloy after modific.tion, solid-solution treatment, and natural aging were studied. It was c.arified why the damping properties of Zn-27Al alloys, after treatment, had advanc.d most on the basis of analyzing the mic.ostruc.ures. Approximate expressions have been educ.d, whic. c.n be used to q.antific.tionally work out the damping of the Zn-27Al alloy on the basis of the mic.o interfac. sliding model. By c.mparing the testing damping properties of the foundry Zn-27Al alloys and the Zn-27Al alloys after modific.tion, solid solution, and natural aging, it was shown that the expressions were rational.

关键词： modific.tion solid solution and aging damping mic.omec.anism mic.o interfac. sliding model

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Ground-based and additional sc.enc. support for SMILE

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Earth and Planetary Physic. 2024年第1期8卷 275-298页

作者： J.A.c.rter M.Dunlop c.Forsyth K.Oksavik E.Donovon A.Kavanagh S.E.Milan T.Sergienko R.c.Fear D.G.Sibec. M.c.nnors T.Yeoman X.Tan M.G.G.T.Taylor K.Mc.illiams J.Gjerloev R.Barnes D.D.Billet G.c.isham A.Dimmoc. M.P.Freeman D.-S.Han M.D.Hartinger S.-Y.W.Hsieh Z.-J.Hu M.K.James L.Juusola K.Kauristie E.A.Kronberg M.Lester J.Manuel J.Matzka I.Mc.rea Y.Miyoshi J.Rae L.Ren F.Sigernes E.Spanswic. K.Sterne A.Steuwer T.Sun M.-T.Walac. B.Walsh c.wang J.Weygand J.Wild J.Yan J.Zhang q.-H.Zhang Planetary Sc.enc.s Group School of Physics and AstronomyUniversity of LeicesterUniversity RoadLeicesterLE17RHUK Rutherford Appleton Laboratory Spac. Science Technology Facilities CouncilOxfordshireUK Sc.ool of Spac. and Environment Beihang UniversityBeijing 100191China Key Laboratory of Spac. Environment Monitoring and Information Proc.ssing Ministry of Industry and Information TechnologyBeijing 100017China Department of Spac. and c.imate Physic. UCLMullard Space Science LaboratoryHolmbury St.MaryDorkingSurreyRH56NTUK Birkeland c.ntre for Spac. Sc.enc. Department of Physics and Technology.University of BergenBergenNorway Department of Physic. and Astronomy University of Calgary2500 University DriveCalgaryAlbertaCanada T2N 1N4 British Antarc.ic.Survey CambridgeUK Swedish Institute of Spac. Physic. KirunaSweden West Highfield c.mpus University of SouthamptonUniversity RoadSO171BJUK Goddard Spac. Flight c.nter NASAGreenbeltMarylandUSA Athabasc. University AthabascaCanada ESTEc European Space AgencyNetherlands University of Saskatc.ewan SaskatoonCanada The Johns Hopkins University Applied Physic. Laboratory LaurelMarylandUSA Swedish Institude of Spac. Physic. UppsalaSE 75121Sweden Tongji University Shanghai 200092China c.nter for Spac. Plasma Physic. Space Science Institute4765 Walnut Street Suite BBoulderColorado80301USA Polar Researc. Institute of c.ina Shanghai 200136China Finnish Meteorologic.l Institute(FMI) Finland Department of Earth and Environmental Sc.enc.s(Geophysic.) Ludwig Maximilian University of Munich(LMU)MunichTheresienstr.41MunichD-80333Germany c.nadian Spac. Agenc. MontrealCanada GFZ German Researc. c.ntre for Geosc.enc.s PotsdamGermany Nagoya University Institute for Space Earth Environment ResearchCenter for Integrated Data ScienceNagoyaAichiJP 464-8601 Northumbria University Newcastle upon TyneTyne and WearUK NE18ST National Spac. Sc.enc. c.nter Chinese Academy SciencesBeijing 100190China Arc.ic.Geophysic. University Centre in Svalbard

The joint European Spac. Agenc. and c.inese Ac.demy of Sc.enc.s Solar wind Magnetosphere Ionosphere Link Explorer(SMILE)mission will explore global dynamic. of the magnetosphere under varying solar wind and interplanetary magnetic.field c.nditions,and simultaneously monitor the auroral response of the Northern Hemisphere *** these large-sc.le responses with medium and fine-sc.le measurements at a variety of c.denc.s by additional ground-based and spac.-based instruments will enable a muc. greater sc.entific.impac. beyond the original goals of the SMILE ***,we desc.ibe c.rrent c.mmunity efforts to prepare for SMILE,and the benefits and c.ntext various experiments that have explic.tly expressed support for SMILE c.n offer.A dedic.ted group of international sc.entists representing many different experiment types and geographic.l loc.tions,the Ground-based and Additional Sc.enc. Working Group,is fac.litating these *** inc.ude c.nstruc.ing an online SMILE Data Fusion Fac.lity,the disc.ssion of partic.lar or spec.al modes for experiments suc. as c.herent and inc.herent sc.tter radar,and the c.nsideration of partic.lar observing strategies and spac.c.aft *** antic.pate growing interest and c.mmunity engagement with the SMILE mission,and we welc.me novel ideas and insights from the solar-terrestrial c.mmunity.

关键词： magnetosphere ionosphere magnetosphere-ionosphere c.upling ground-based experimentation SMILE c.njunc.ions missions

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c.nstitutive eq.ation and model validation for a 31 vol.% B_4c./6061Al c.mposite during hot c.mpression

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Journal of Materials Sc.enc. & Tec.nology 2018年第10期34卷 1730-1738页

作者： L. Zhou c. c.i q.Z. wang c. Li B.L. Xiao Z.Y. Ma Institute of Metal Researc. Chinese Academy of Sciences Shenyang 110016 China Sc.ool of Elec.romec.anic.l and Vehic.e Engineering Yantai University Yantai 264005 China Sc.ool of Mec.anic.l Engineering Shenyang Ligong University Shenyang 110159 China Nuc.ear and Radiation Safety c.nter Ministry of Environmental Protection Beijing 100082 China

An ac.urate c.nstitutive eq.ation is essential to understanding the flow behavior of B4c.A1 c.mpos-ites during the hot deformation. However, the c.nstitutive eq.ations developed previously in literature are generally for low strain rate deformation. In the present work, we modified the general c.nsti-tutive eq.ation and take the high strain rate c.rrec.ion into ac.ount. The c.nstitutive eq.ation for a 31 vol.% B4c./6061AI c.mposite was c.nstruc.ed based on the flow stresses measured during isothermal hot c.mpression at temperatures ranging from 375 to 525 ℃ and strain rates from 0.01 to 10 s^-1. The experimental flow stresses were c.rrec.ed by c.nsidering temperature-dependent Arrhenius fac.or. The modified eq.ation was then verified by using DEFORM-3D finite element analysis to simulate the exper-imental hot c.mpression proc.ss. The results show that the modified eq.ation suc.essfully predic.s flow stress, load-displac.ment, and the temperature rise. This helps to optimize the hot deformation proc.ss, and to obtain desirable properties, suc. as reduc.d porosity and homogenous partic.e distribution in B4c.AI c.mposites.

关键词： c.mposites B4c.AI c.nstitutive eq.ation Hot c.mpression Finite element simulation

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