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A mutation in TBXT causes congenital vertebral malformations in humans and mice

Journal of Genetics and Genomics 2024年第4期51卷 433-442页

作者： Shuxia Chen Yunping Lei Yajun Yang Chennan Liu Lele Kuang Li Jin richard HFinnell Xueyan Yang Hongyan Wang Obstetrics and Gynecology Hospital State Key Laboratory of Genetic Engineering at School of Life SciencesKey Laboratory of Reproduction Regulation of NPFPCInstitute of Reproduction and DevelopmentFudan UniversityShanghai 200438China Shanghai Key Laboratory of Metabolic remodeling and Health Institute of Metabolism and Integrative BiologyFudan UniversityShanghai 200438China Center for Precision Environmental Health Department of Molecular and Cellular BiologyBaylor College of MedicineHoustonTX 77030USA MOE Key Laboratory of Contemporary Anthropology School of Life SciencesFudan UniversityShanghai 200438China Department of Assisted reproduction Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092China Children’s Hospital Fudan University399 Wanyuan RoadShanghai 201102China

T-box transcription factor T(TBXT;T)is required for mesodermal formation and axial skeletal *** it has been extensively studied in various model organisms,human congenital vertebral malformations(CVMs)involving T are not well ***,we report a family with 15 CVM patients distributed across 4 *** affected individuals carry a heterozygous mutation,T c.596A>G(p.Q199r),which is not found in unaffected family members,indicating co-segregation of the genotype and *** vitro assays show that T p.Q199r increases the nucleocytoplasmic ratio and enhances its DNA-binding affinity,but reduces its transcriptional activity compared to the *** determine the pathogenicity of this mutation in vivo,we generated a Q199r knock-in mouse model that recapitulates the human CVM *** heterozygous Q199r mice show subtle kinked or shortened tails,while homozygous mice exhibit tail filaments and severe vertebral ***,we show that the Q199r mutation in T causes CVM in humans and mice,providing previously unreported evidence supporting the function of T in the genetic etiology of human CVM.

关键词： Congenital vertebral malformation TBXT T gene Loss-of-function mutation

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Pile foundation in alternate layered liquefiable and non-liquefiable soil deposits subjected to earthquake loading

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Earthquake Engineering and Engineering Vibration 2024年第2期23卷 359-376页

作者： Praveen Huded M Suresh r Dash LEA Associates South East Asia Pvt.Ltd. New Delhi 110044India Indian Institute of Technology Bhubaneswar Khurda 752050India

Pile foundations are still the preferred foundation system for high-rise structures in earthquake-prone *** foundations have experienced failures in past earthquakes due to *** on pile foundations in liquefiable soils has primarily focused on the pile foundation behavior in two or three-layered soil ***,in natural occurrence,it may occur in alternative layers of liquefiable and non-liquefiable ***,the experimental and/or numerical studies on the layered effect on pile foundations have not been widely addressed in the *** of the design codes across the world do not explicitly mention the effect of sandwiched non-liquefiable soil layers on the pile *** the present study,the behavior of an end-bearing pile in layered liquefiable and non-liquefiable soil deposit is studied *** study found that the kinematic bending moment is higher and governs the design when the effect of the sandwiched non-liquefied layer is considered in the analysis as opposed to when its effect is ***,ignoring the effect of the sandwiched non-liquefied layer in a liquefiable soil deposit might be a nonconservative design approach.

关键词： pile foundation liquefaction alternately layered soil fixity effect layered effect

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Effect of cylinder wall parameters on the final packing density of mono-disperse spheres subject to three-dimensional vibrations Author links open overlay panel

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Particuology 2024年第8期91卷 211-225页

作者： Jack r.Grogan Andrei L.Nicuşan Christopher r.K.Windows-Yule School of Chemical Engineering The University of BirminghamEdgbastonBirminghamB152TTUK

Achieving densely packed particles is desirable within the industries of ceramics,pharmaceuticals,defence and additive *** this work,we use the discrete element method(DEM)to determine the effect of wall parameters on the final packing density of mono-disperse spheres subject to 4 varying three-dimensional vibration and fill *** focus specifically on the impact of the container wall parameters on the particles'final packing *** on from the validation of the DEM simulation the particle-wall coefficient of restitution,the particle-wall coefficient of rolling friction and the particle-wall coefficient of sliding friction were varied individually and the effect on the final packing density *** relatively low particle-particle friction glass beads,the effect of these wall properties had no discernible effect on the final packing density *** on from these findings the particle-wall properties were varied at the extreme values of particle-particle coefficient of rolling friction and particle-particle coefficient of sliding *** a particle-particle coefficient of sliding friction=1,increases in particle-wall coefficient of restitution resulted in a minor increase in the final packing density of particles though this was not statistically *** a particle-particle coefficient of sliding friction=1,increases in particle-wall coefficient of rolling friction resulted in a minor decrease in the final packing density of the particles though again not to a degree where the trend can,with complete certainty,be distinguished from the random error across the ***,when the particle-particle coefficient of sliding friction=1,increases in particle-wall coefficient of sliding friction resulted in a significant decrease in the final packing density of *** decrease was attributed to the propagation of force chains throughout the *** significant decrease in final packing density with

关键词： Vibropacking Packing Densification Vibration Discrete element method Friction Wall friction restitution

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Conservation laws,Lie symmetries,self adjointness,and soliton solutions for the Selkov–Schnakenberg system

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Communications in Theoretical Physics 2024年第2期76卷 29-44页

作者： Kashif Ali Aly r Seadawy Syed T r rizvi Noor Aziz Department of Mathematics COMSATS University IslamabadLahore CampusPakistan Mathematics Department Faculty of ScienceTaibah UniversityAl-Madinah Al-Munawarah41411Saudi Arabia

In this article,we explore the famous Selkov–Schnakenberg(SS)system of coupled nonlinear partial differential equations(PDEs)for Lie symmetry analysis,self-adjointness,and conservation ***,miscellaneous soliton solutions like dark,bright,periodic,rational,Jacobian elliptic function,Weierstrass elliptic function,and hyperbolic solutions of the SS system will be achieved by a well-known technique called sub-ordinary differential *** these results are displayed graphically by 3D,2D,and contour plots.

关键词： Selkov-Schnakenberg system Lie symmetry analysis conservation laws adjointness integrability

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FEA-based Geometrical Modification of Switched reluctance Motor for radial Force reduction

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Chinese Journal of Electrical Engineering 2024年第1期10卷 124-135页

作者： rani S Jayapragash r School of Electrical Engineering Vellore Institute of TechnologyChennai 600127India

Switched reluctance motors(SrMs)are becoming increasingly popular in the automotive sector owing to their robust ***,SrMs are preferred particularly for EV applications owing to their fault tolerance,magnet-free structure,and high power/torque *** main concerns of SrM compared to other machines include torque ripple and *** primary cause of vibration is the radial force created by the SrM.A geometry-based modification of the SrM to reduce the radial force without significantly changing the average torque produced is *** primary goal is to design a 4-phase,8/6 SrM with a lower radial *** possible geometrical alterations are proposed:one with square windows and the other with circular holes on the rotor *** windows are sized and positioned to avoid flux *** criteria are developed for the optimal window size and *** element analysis(FEA)modelling of the SrM is used to validate its *** FEA results are compared with the performance parameters obtained using the analytical *** the multiphysics design tool ANSYS to obtain the natural frequencies and associated deformations through modal *** to the conventional geometry,the radial force is significantly reduced by providing windows.

关键词： 8/6 SrM radial force modal analysis FEA analysis natural frequencies SrM with windows

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Transcranial photobiomodulation for the brain: a wide range of clinical applications

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Neural regeneration research 2024年第3期19卷 483-484页

作者： Michael r.Hamblin Laser research Centre Faculty of Health ScienceUniversity of Johannesburg-Doornfontein CampusDoornfonteinSouth Africa

Photobiomodulation therapy(PBMT)is a rapidly growing approach to the healing,stimulation,protection,and regeneration of many human organs and tissue *** started in the 1960s as low-level laser therapy for wound healing,but since then the introduction of light-emitting diodes(LEDs)has dramatically increased the number of applications and reports of positive *** generally uses red(620-700 nm)and/or near-infrared(780-1270 nm)wavelengths of light at an intensity that causes no tissue heating,and its activity is based on well-established biological and cellular mechanisms(de Freitas and Hamblin,2016).While laser therapists continue to use various types of laser in their office practice,LEDs are ideally suited for home use devices because they are completely safe and without any known significant adverse *** the various body parts on which PBMT has been shown to exert beneficial effects,the brain stands out as perhaps the most promising *** has been shown to reduce neuroinflammation,while increasing mitochondrial function,oxygen consumption,and blood flow within the brain(Hamblin,2016).Moreover,PBMT can stimulate the processes of synaptogenesis,neurogenesis,and neuroplasticity thus helping the brain to heal itself.

关键词： healing stimulation wound

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Approach for C_(1)to C_(2)products commencing from carbon dioxide:A brief review

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Petroleum 2024年第3期10卷 373-398页

作者： G.r.Dey radiation and Photochemistry Division Bhabha Atomic Research CentreTrombayMumbai 400085India Homi Bhabha National Institute AnushaktinagarMumbai 400094India

The carbon dioxide(CO_(2))conversion to useable compounds remains a great contest to scientists,engineers,and environmentalists with regard to the reverse of the oxidative degradation of *** conversion is essential for the development of complementary fuels and raw materials for various industries,which in turn will help in avoiding the drastic increase in tropospheric temperature due to greenhouse effect leading to global *** solar energy is the earth's essential power source along with the other various forms of energy for example fossil fuels,hydropower,wind,and biomaterials,*** final goal is to establish the artificial photosynthesis,which can be replicated thru various chemical reduction techniques of CO_(2)by employing appropriate photo-,thermal-and electro-catalysts in order to produce different one carbon atom(C_(1))and higher carbon atoms containing ***,the utilization of clean and sustainable CO_(2)towards high-value products is of great interest today due to the recognized environmental worries and subsequent lessening of the fossil fuels utilization load to meet the energy demand of *** way,solar energy can directly and/or indirectly be altered and stored in chemical energy form for industrial as well as societal *** this article our endeavor is to summarize the advances in CO_(2)chemical reduction research area till date especially in free radical-based methods such as electrochemical,photochemical and plasma chemical for the development of carbon species up to two carbon(C_(2))atoms containing products perceived in the chemical reduction of CO_(2).The author hopes that this piece of work will be helpful to researchers and readers who are focused on the field of CO_(2).

关键词： Photocatalysis Electrocatalysis Plasmolysis Thermolysis Carbon dioxide Chemical reduction

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Framework to Model User request Access Patterns in the World Wide Web

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Journal of Software Engineering and Applications 2024年第2期17卷 69-88页

作者： richard Hurley robert Sturgeon Department of Computer Science Trent University Peterborough ON Canada

In this paper, we present a novel approach to model user request patterns in the World Wide Web. Instead of focusing on the user traffic for web pages, we capture the user interaction at the object level of the web pages. Our framework model consists of three sub-models: one for user file access, one for web pages, and one for storage servers. Web pages are assumed to consist of different types and sizes of objects, which are characterized using several categories: articles, media, and mosaics. The model is implemented with a discrete event simulation and then used to investigate the performance of our system over a variety of parameters in our model. Our performance measure of choice is mean response time and by varying the composition of web pages through our categories, we find that our framework model is able to capture a wide range of conditions that serve as a basis for generating a variety of user request patterns. In addition, we are able to establish a set of parameters that can be used as base cases. One of the goals of this research is for the framework model to be general enough that the parameters can be varied such that it can serve as input for investigating other distributed applications that require the generation of user request access patterns.

关键词： Performance Modelling World Wide Web Simulation User request Access Patterns Framework

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Across two phylogeographic breaks: Quaternary evolutionary history of a mountain aspen (Populus rotundifolia) in the Hengduan Mountains

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Plant Diversity 2024年第3期46卷 321-332页

作者： Jieshi Tang Xiaoyan Fan richard I.Milne Heng Yang Wenjing Tao Xinran Zhang Mengyun Guo Jialiang Li Kangshan Mao Key Laboratory of Bio-resource and Eco-Environment of Ministry of Education College of Life SciencesState Key Laboratory of Hydraulics and Mountain River EngineeringSichuan UniversityChengdu 610065PR China Institute of Molecular Plant Sciences University of EdinburghEdinburgh EH93JHUK School of Ecology and Environment Tibet UniversityLhasa 850000PR China

Biogeographical barriers to gene flow are central to plant *** East Asia,plant distribution is greatly influenced by two phylogeographic breaks,the Mekong-Salween Divide and Tanaka-Kaiyong Line,however,few studies have investigated how these barriers affect the genetic diversity of species that are distributed across *** we used 14 microsatellite loci and four chloroplast DNA fragments to examine genetic diversity and distribution patterns of 49 populations of Populus rotundifolia,a species that spans both the Mekong-Salween Divide and the Tanaka-Kaiyong Line in southwestern *** and migration hypotheses were tested using coalescent-based *** historical gene flow was observed between the western and eastern groups of ***,but substantial flow occurred across both the Mekong-Salween Divide and Tanaka-Kaiyong Line,manifesting in clear admixture and high genetic diversity in the central ***-borne pollen and seeds may have facilitated the dispersal of *** following prevalent northwest winds in the *** also found that the Hengduan Mountains,where multiple genetic barriers were detected,acted on the whole as a barrier between the western and eastern groups of *** niche modeling suggested that *** has undergone range expansion since the last glacial maximum,and demographic reconstruction indicated an earlier population expansion around 600 *** phylogeographic pattern of *** reflects the interplay of biological traits,wind patterns,barriers,niche differentiation,and Quaternary climate *** study emphasizes the need for multiple lines of evidence in understanding the Quaternary evolution of plants in topographically complex areas.

关键词： Chloroplast DNA Microsatellite Phylogeographic break Populus rotundifolia Quaternary history Wind direction

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Treat to target in Crohn’s disease:A practical guide for clinicians

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World Journal of Gastroenterology 2024年第1期30卷 50-69页

作者： Ashish r Srinivasan Department of Gastroenterology Austin HealthVictoriaMelbourne 3083Australia Department of Gastroenterology Eastern HealthVictoriaMelbourne 3128Australia Department of Medicine University of MelbourneVictoriaMelbourne 3052Australia

A treat-to-target(T2T)approach applies the principles of early intervention and tight disease control to optimise long-term outcomes in Crohn's *** Selecting Therapeutic Targets in Inflammatory Bowel Disease(STrIDE)-II guidelines specify short,intermediate,and long-term treatment goals,documenting specific treatment targets to be achieved at each of these *** appraisal of Crohn’s disease activity against pre-defined treatment targets at these timepoints remains central to determining whether current therapy should be continued or *** treatment targets in Crohn’s disease comprise combination clinical and patient-reported outcome remission,in conjunction with biomarker normalisation and endoscopic *** the STrIDE-II guidelines endorse the pursuit of endoscopic healing,clinicians must consider that this may not always be appropriate,acceptable,or achievable in all *** underscores the need to engage patients at the outset in an effort to personalise care and individualise treatment *** use of non-invasive biomarkers such as faecal calprotectin in conjunction with cross-sectional imaging techniques,particularly intestinal ultrasound,holds great promise;as do emerging treatment targets such as transmural *** randomised clinical trials,namely,CALM and STArDUST,have evaluated the efficacy of a T2T approach in achieving endoscopic endpoints in patients with Crohn’s *** from these studies reflect that patient subgroups and Crohn’s disease characteristics likely to benefit most from a T2T approach,remain to be ***,outside of clinical trials,data pertaining to the real-world effectiveness of a T2T approach remains scare,highlighting the need for pragmatic real-world *** the obvious promise of a T2T approach,a lack of guidance to support its integration into real-world clinical practice has the potential to limit its *** highlights the need to describe st

关键词： Treat to target Inflammatory bowel disease Crohn’s disease Treatment targets Endoscopic remission Transmural healing Time to response Intestinal ultrasound

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