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

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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

Polymeric piezoelectric accelerometers with high sensitivity,broad bandwidth,and low noise density for organic electronics and wearable microsystems

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Microsystems & Nanoengineering 2024年第3期10卷 63-74页

作者： Chang ge Edmond Cretu The Department of Electrical and Computer Engineering The University of British ColumbiaVancouverBCCanada

Piezoelectric accelerometers excel in vibration *** the emerging trend of fully organic electronic microsystems,polymeric piezoelectric accelerometers can be used as vital front-end components to capture dynamic signals,such as vocal vibrations in wearable speaking assistants for those with speaking ***,high-performance polymeric piezoelectric accelerometers suitable for such applications are *** organic compounds such as PVDF have inferior properties to their inorganic counterparts such as ***,most existing polymeric piezoelectric accelerometers have very unbalanced performance *** often sacrifice resonance frequency and bandwidth for a flat-band sensitivity comparable to those of PZT-based accelerometers,leading to increased noise density and limited application *** this study,a new polymeric piezoelectric accelerometer design to overcome the material limitations of PVDF is *** new design aims to simultaneously achieve high sensitivity,broad bandwidth,and low *** samples were manufactured and characterized,demonstrating an average sensitivity of 29.45 pC/g within a±10 g input range,a 5%flat band of 160 Hz,and an in-band noise density of 1.4μg/√*** results surpass those of many PZT-based piezoelectric accelerometers,showing the feasibility of achieving comprehensively high performance in polymeric piezoelectric accelerometers to increase their potential in novel applications such as organic microsystems.

关键词： piezoelectric polymeric overcome

Meridional deflection of global eddy propagation derived from tandem altimetry: Mechanism and implication

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Science China Earth Sciences 2024年第3期67卷 811-825页

作者： ge CHEN Xiaoyan CHEN Frontiers Science Center for Deep Ocean Multispheres and Earth System School of Marine TechnologyOcean University of ChinaQindao 266100China Laboratory for Regional Oceanography and Numerical Modeling Laoshan LaboratoryQindao 266237China

A common view on meridional deflection of eddy propagation is poleward for cyclones and equatorward for anticyclones. This widely accepted polarity-sensitive pattern has been increasingly undermined given that it is systematically violated on both zonal and regional scales as recently reported. Here, we approach the problem by exploring these violations in terms of eddy effects of spatiotemporal geostrophy, thermal fading, and flow dragging, yielding the following main conclusions.(1) The polarity-dependent deflection discrepancy is a pseudo feature resulting from a biased fit to the normalized eddy tracks which are spatially asymmetric(though azimuthally symmetric) between the two signs;Instead, the primary pattern of eddy deflection appears to be geographically correlated and polarity independent.(2) geostrophic adjustment plays a critical role in defining the meridional movement of an eddy. Specifically, a consistent poleward(equatorward) trajectory bending of spatially(temporally) ageostrophic eddies is observed irrespective of their polarity.(3) The mechanism of eddy deflection is also determined by its zonal propagation direction. Westward propagating eddies are substantially affected by thermal fading, while opposite ones by flow dragging. A realistic and comprehensive understanding of eddy deflection mechanisms serves as a significant contribution to the prediction of eddy trajectory, and the protection of ocean environment.

关键词： Mesoscale eddies Eddy propagation Eddy meridional deflection Satellite observation geostrophic adjustment

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Solid Desiccant Heat Pump Fresh Air Unit using Composite Silica gel

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Journal of Thermal Science 2024年第4期33卷 1286-1300页

作者： YANG Tianyu GUO Defang ge Tianshu Institute of Refrigeration and Cryogenics Shanghai Jiao Tong UniversityKey Laboratory of Power Mechanical EngineeringMOE ChinaShanghai200240China Qingdao Haier A/C Electronic Co. LtdQingdao266101China

The introduction of fresh air into the indoor space leads to a significant increase in cooling or heating *** desiccant heat pump fresh air unit which can handle the latent and sensible load of fresh air efficiently have been proposed *** improve the performance of the solid desiccant heat pump fresh air unit in the fresh air handling process,in this paper,the application of composite silica gel in a heat pump fresh air unit was *** comparison between silica gel coating(SGC)and composite silica gel coating(CSGC)shows that the adsorption rate and water uptake capacity of CSGC are more than two times higher than those of *** experimental setup for the solid desiccant heat pump fresh air unit was *** performance of SGC and CSGC was tested in the setup *** show that under summer conditions,compared with the solid desiccant heat pump fresh air unit using silica gel(SGFU),the average moisture removal and COP of the one using composite silica gel(CSGFU)increased by 15%and 30%,*** winter conditions,compared with SGFU,the average humidification and COP of CSGFU increased by 42%and 17%.With optimal operation conditions of 3 min switchover time and 40 r/s compressor frequency,the COP of CSGFU under summer conditions can reach *** also show that the CSGFU and SGFU have higher COP and dehumidification rate under higher outdoor temperature and humidity ratio.

关键词： fresh air system desiccant coated heat exchanger humidification dehumidification experimental comparison

Theoretical study on the stability of nanobubbles and its verification in molecular dynamics simulation

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Particuology 2024年第4期87卷 99-105页

作者： Sheng Mi Chaofeng Hou Wei ge School of Chemical Engineering and Technology Tianjin UniversityTianjin300072China State Key Laboratory of Multiphase Complex Systems Institute of Process EngineeringChinese Academy of SciencesBeijing.100190China School of Chemical Engineering University of Chinese Academy of SciencesBeijing100049China

The stability of vapor nanobubbles in bulk liquid was investigated theoretically and the critical bubble size was derived from macroscale thermodynamic equations,below which the system destabilizes with sharp drop in *** critical size was quantitatively verified in molecular dynamic simulation using the Lennard-Jones model of argon,where stronger attraction between the molecules at lower density is found to contribute most to the drop of system pressure and,as the Laplace pressure on the curved bubble interface fails to balance the pressure difference across the interface,the bubbles become *** theoretical model could be extended to other systems where reliable equations of state and interfacial tension are available.

关键词： Nanobubble Stability Phase diagram Critical size

Soft coarse-grained particle model for particle-fluid systems

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Particuology 2024年第1期84卷 178-193页

作者： Yanhao Ye Ji Xu Wei ge State Key Laboratory of Multiphase Complex Systems Institute of Process EngineeringChinese Academy of SciencesBeijing100190China School of Chemical Engineering University of Chinese Academy of SciencesBeijing100049China Innovation Academy for Green Manufacture Chinese Academy of SciencesBeijing100190China

By modeling a group of neighboring real particles as a single coarse-grained particle(CGP),discrete particle method(DPM)is now capable of simulating industrial-scale particle-fluid ***,a systematic approach to determine the CGP properties and develop their interaction models is still lacking,which casts uncertainty on the predictivity of the *** this study,collisions between predefined particle groups are analyzed to construct kernel functions for modeling the CGPs and then the model parameters are determined by equating the statistical properties of the CGPs and the real particles in the physical process *** approach is implemented for homogeneous cooling of granular gas,then demonstrated effective in simulating experimental fluidized beds.

关键词： Coarse-grain(CG) Discrete particle method(DPM) Fluidized bed Multi-scale simulation

geometry of holomorphic invariant strongly pseudoconvex complex Finsler metrics on the classical domains

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Science China Mathematics 2024年第8期67卷 1827-1864页

作者： Xiaoshu ge Chunping Zhong School of Mathematical Sciences Xiamen UniversityXiamen 361005China

In this paper,a class of holomorphic invariant metrics is introduced on the irreducible classical domains of typesⅠ-Ⅳ,which are strongly pseudoconvex complex Finsler metrics in the strict sense of Abate and Patrizio(1994).These metrics are of particular interest in several complex variables since they are holomorphic invariant complex Finsler metrics found in the literature which enjoy good regularity as well as strong pseudoconvexity and can be explicitly expressed to admit differential geometry *** are,however,not necessarily Hermitian quadratic as the Bergman *** metrics are explicitly constructed via deformation of the corresponding Bergman metric on the irreducible classical domains of typesⅠ-Ⅳ,respectively,and they are all proved to be complete K?hler-Berwald *** enjoy very similar curvature properties as those of the Bergman metric on the irreducible classical domains,i.e.,their holomorphic sectional curvatures are bounded between two negative constants and their holomorphic bisectional curvatures are always nonpositive and bounded below by negative constants,*** the viewpoint of complex analysis,these metrics are analogs of Bergman metrics in complex Finsler geometry which do not necessarily have Hermitian quadratic restrictions in the sense of Chern(1996).

关键词： holomorphic invariant metric Kahler-Berwald metric irreducible classical domains

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Activity regulation and applications of metal-organic framework-based nanozymes

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Rare Metals 2024年第3期43卷 900-914页

作者： ge Fang Shou-Xin Bao gen-Xiu Zhou Cui-Cui ge State Key Laboratory of Radiation Medicine and Protection School of Radiation Medicine and ProtectionSchool for Radiological and Interdisciplinary Sciences(RAD-X)Collaborative Innovation Center of Radiation Medicine of Jiangsu Higher Education InstitutionsSoochow UniversitySuzhou 215123China Suzhou Nanomicro Technology Co. LtdSuzhou 215000China

As a new generation of artificial enzymes,nanozymes show outstanding advantages such as high stability,low cost,and facile synthesis,which endow them with promising applications in biomedical and environmental *** the various reported nanozymes,metal-organic frameworks(MOFs)could mimic the active center of natural enzymes and provide a hydrophobic environment,which makes MOFs attractive alternatives to natural *** to the highly structural diversity and tailorability of MOFs,rational design will contribute to improve the activity of MOF-based nanozymes and promote their potential applications in both biomedical and environmental ***,a comprehensiye suminary of activity regulatory strategies of MOF-based nanozymes is urgently ***,we summarized the activity regulatory strategies of MOFs with intrinsic enzyme-like activities via modulation of metal nodes,ligands,structures and *** the applications of MOF-based nanozymes in biosensing,hazardous degradation,antibacterial,and cancer therapy were also ***,the current challenges and future perspectives were discussed in *** is highly expected that this review will provide a better understanding on the rational design of novel high-performance MOF-based nanozymes.

关键词： Metal-organic frameworks(MOF)-based nanozymes Activity regulation Biosensing Cancer therapy Hazardous degradation Antibacterial

Carbonic anhydrase-like enzymes in the formation of Lycopodium alkaloid

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Chinese Journal of Natural Medicines 2024年第3期22卷 193-194页

作者： DONG Huiwen ge Huiming State key Laboratory of Pharmaceutical Biotechnology Institute of Functional BiomoleculesSchool of Life SciencesNanjing UniversityNanjing 210023China

Plant alkaloids,renowned for their structural diversity and bioactivity,are prominent in both modern and traditional medicine[1].Unraveling the intricacies of plant alkaloid biosynthesis could pave the way for the discovery of new natural products and *** may also shed light on the roles of existing pathways in host biology and provide valuable tools for metabolic engineering in plants and microbes[2].Unlike other major classes of plant natural products,such as terpenoids and polyketides,the formation of alkaloid scaffolds does not conform to a uniform chemical theme or depend on a singular enzyme class[3].A case in point is the Lycopodium alkaloids in the Lycopodiaceae family,where the enzymes responsible for their core scaffold construction remain unidentified[4].

关键词： Lycopodium alkaloid Carbonic anhydrase-like enzymes Biosynthesis