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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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Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects

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Genes & Diseases 2022年第5期9卷 1174-1177页

作者： lele kuang Yuchao Jiang Shuxia Chen Ke Su Rui Peng Xueyan Yang Hongyan Wang Obstetrics and Gynecology Hospital NHC Key Laboratory of Reproduction Regulation(Shanghai Institute of Planned Parenthood Research)Children's HospitalFudan UniversityShanghai 200011PR China Department of Assisted Reproduction Xinhua HospitalSchool of MedicineShanghai Jiao Tong UniversityShanghai 200092PR China The MOE Key Laboratory of Contemporary Anthropology Department of Anthropology and Human GeneticsSchool of Life SciencesFudan UniversityShanghai 200438PR China Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases Institute of Metabolism and Integrative BiologyInstitute of Reproduction and DevelopmentInstitutes of Biomedical SciencesFudan UniversityShanghai 200090PR China

To the Editor:Neural tube defects(NTDs)are among the most common human birth defects affecting about 1/1000 live births worldwide.1 The etiology of NTDs is attributed to complex genetic and environmental risk *** 200 genes have been identified to cause NTDs in animal models,suggesting the involvement of distinct molecular basis in NTD etiology,including the Sonic hedgehog(Shh)signaling.

关键词： involvement neural attributed

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Rare Mutations in SHROOM3 are Associated with Human Neural Tube Defects

Rare Mutations in SHROOM3 are Associated with Human Neural T...

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中华医学会第十五次全国医学遗传学学术会议暨中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会

作者： kuang lele Wang Hongyan The State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Ant hropology & The Collaborative Innovation Centre of Genetics and Development School of Life ScienceFudan University Jiangwan Campus

Objective to explore the molecular mechanism and function of Shroom3 in human Neural tube d efects Method with the next generation whole exon sequencing,we sequenced the coding region of SH ROOM3 among all cases dan ***,lots of mutations were found including common(MA F>5%) and rare mutations(MAF<1%).As common mutations in human often don’t have a good co nsistency with sides,and rare mutations play more and more important roles in NTD ***, we focus the de novo rare *** Sanger sequencing,we identify three case-specific nonsynonymous and one frameshift mutations in human ***,functional studies in vitro such as Co-IP and fluorescent colocalization were taken to explore the effect of mutations. Result In this study,363 miscarried of stillborn Han Chinese NTD fetuses from Jiangsu and Shan xi province, China were collected as *** group contains 215 unrelated normal fetuses born in the same ***,four rare case-specific heterozygous mutations were found in hum an *** vitro functional assays showed that all four mutations increased the interaction with D vl2,and lost the ability to inhibit PCP *** addition,Co-IP and fluorescent colocalization assa ys showed that frameshift mutation also disrupted its binding and colocalization with Rock1 SBD. Conclusion Apical constriction and convergent extension are the most critical processes during n eural tube ***3 mutations may act through PCP and Rock1 pathway together with ot her gene network and environment risk factors to mediate the severity of NTD phenotypes.

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Inter-well internal resonance analysis of rectangular asymmetric cross-ply bistable composite laminated cantilever shell under transverse foundation excitation

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Applied Mathematics and Mechanics(English Edition) 2024年第8期45卷 1353-1370页

作者： lele REN Wei ZHANG Yufei ZHANG State Key Laboratory of Mechanical System and Vibration Shanghai Jiao Tong UniversityShanghai 200240China Department of Mechanics Guangxi UniversityNanning 530004China Beijing Key Laboratory of Nonlinear Vibrations and Strength of Mechanical Structures College of Mechanical EngineeringBeijing University of TechnologyBeijing 100124China

The chaotic dynamic snap-through and complex nonlinear vibrations are investigated in a rectangular asymmetric cross-ply bistable composite laminated cantilever shell,in cases of 1:2 inter-well internal resonance and primary *** transverse foundation excitation is applied to the fixed end of the structure,and the other end is in a free *** first-order approximate multiple scales method is employed to perform the perturbation analysis on the dimensionless two-degree-of-freedom ordinary differential motion control *** four-dimensional averaged equations are derived in both polar and rectangular coordinate *** from the obtained frequency-amplitude and force-amplitude response curves,a detailed analysis is conducted to examine the impacts of excitation amplitude,damping coefficient,and tuning parameter on the nonlinear internal resonance characteristics of the *** nonlinear softening characteristic is exhibited in the upper stable-state,while the lower stable-state demonstrates the softening and linearity *** simulation is carried out using the fourth-order Runge-Kutta method,and a series of nonlinear response curves are *** the excitation amplitude further elucidates the global bifurcation and chaotic dynamic snap-through characteristics of the bistable cantilever shell.

关键词： bistable composite laminated cantilever shell inter-well internal resonance primary resonance chaotic dynamic snap-through complex nonlinear vibration

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Black Phosphorus for Photonic Integrated Circuits

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Research 2024年第2期2023卷 339-353页

作者： Mingxin Zhang lele Yang Xiaoxuan Wu Junjia Wang National Research Center for Optical Sensors/communications Integrated Networks School of Electronic Science and EngineeringSoutheast University2 SipailouNanjing 210096China

Black phosphorus gives several advantages and complementarities over other two-dimensional *** has drawn extensive interest owing to its relatively high carrier mobility,wide tunable bandgap,and in-plane anisotropy in recent *** manuscript briefly reviews the structure and physical properties of black phosphorus and targets on black phosphorus for photonic integrated *** of the applications are discussed including photodetection,optical modulation,light emission,and polarization *** recent progresses,associated challenges,and future potentials are covered.

关键词： polarization tunable phosphorus

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Combination strategies for first-line treatment of patients with unresectable hepatocellular carcinoma:prospect of natural products

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Chinese Journal of Natural Medicines 2024年第1期22卷 1-3页

作者： ZHANG lele LU Jinjian School of Basic Medical Sciences Chengdu UniversityChengdu 610106China State Key Laboratory of Quality Research in Chinese Medicine Institute of Chinese Medical SciencesUniversity of MacaoMacao 999078China Department of Pharmaceutical Sciences Faculty of Health SciencesUniversity of MacaoMacao 999078China

Liver cancer stands as a significant global health concern,contributing substantially to cancer incidence and mortality,particularly in Asian countries[1].Hepatocellular carcinoma(HCC)accounts for approximately 90%of all liver cancer cases and is characterized by a high-risk profile and a generally poor prognosis[2].To address advanced HCC,systemic therapy has been recommended,leading to the approval of a range of treatment regimens in clinical ***,first-line therapy involved the use of multitargeted tyrosine kinase inhibitors(TKIs)such as sorafenib or lenvatinib,while cabozantinib,ramucirumab.

关键词： Unresectable hepatocellular carcinoma Combination strategies Immunotherapy PD-1/PD-L1 Natural products

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Snap-through behaviors and nonlinear vibrations of a bistable composite laminated cantilever shell:an experimental and numerical study

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Applied Mathematics and Mechanics(English Edition) 2024年第5期45卷 779-794页

作者： lele REN Wei ZHANG Ting DONG Yufei ZHANG State Key Laboratory of Mechanical System and Vibration Shanghai Jiao Tong UniversityShanghai 200240China Department of Mechanics Guangxi UniversityNanning 530004China Beijing Key Laboratory of Nonlinear Vibrations and Strength of Mechanical Structures College of Mechanical EngineeringBeijing University of TechnologyBeijing 100124China School of Mechanical Engineering Beijing Institute of TechnologyBeijing 100081China

The snap-through behaviors and nonlinear vibrations are investigated for a bistable composite laminated cantilever shell subjected to transversal foundation excitation based on experimental and theoretical *** improved experimental specimen is designed in order to satisfy the cantilever support boundary condition,which is composed of an asymmetric region and a symmetric *** symmetric region of the experimental specimen is entirely clamped,which is rigidly connected to an electromagnetic shaker,while the asymmetric region remains free of *** motion paths are realized for the bistable cantilever shell by changing the input signal levels of the electromagnetic shaker,and the displacement responses of the shell are collected by the laser displacement *** numerical simulation is conducted based on the established theoretical model of the bistable composite laminated cantilever shell,and an off-axis three-dimensional dynamic snap-through domain is *** numerical solutions are in good agreement with the experimental *** nonlinear stiffness characteristics,dynamic snap-through domain,and chaos and bifurcation behaviors of the shell are quantitatively *** to the asymmetry of the boundary condition and the shell,the upper stable-state of the shell exhibits an obvious soft spring stiffness characteristic,and the lower stable-state shows a linear stiffness characteristic of the shell.

关键词： bistable composite laminated cantilever shell snap-through behavior nonlinear vibration nonlinear stiffness characteristic chaos and bifurcation

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Convolutional neural network adaptation and optimization method in SIMT computing mode

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The Journal of China Universities of Posts and Telecommunications 2024年第2期31卷 105-112页

作者： Feng Zhenfu Zhang Yaying Yang lele Xing Lidong School of Electronic Engineering Xi'an University of Posts and TelecommunicationsXi'an 710121China

For studying and optimizing the performance of general-purpose computing on graphics processing units(GPGPU)based on single instruction multiple threads(SIMT)processor about the neural network application,this work contributes a self-developed SIMT processor named Pomelo and correlated assembly *** parallel mechanism of SIMT computing mode and self-developed Pomelo processor is briefly introduced.A common convolutional neural network(CNN)is built to verify the compatibility and functionality of the Pomelo *** computing flow with task level and hardware level optimization is adopted on the Pomelo processor.A specific algorithm for organizing a Z-shaped memory structure is developed,which addresses reducing memory access in mass data computing *** the above-combined adaptation and optimization strategy,the experimental result demonstrates that reducing memory access in SIMT computing mode plays a crucial role in improving performance.A 6.52 times performance is achieved on the 4 processing elements case.

关键词： parallel computing single instruction multiple threads(SIMT) convolutional neural network(CNN) memory optimization

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Indentation behavior of a semi-infinite piezoelectric semiconductor under a rigid flat-ended cylindrical indenter

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Applied Mathematics and Mechanics(English Edition) 2024年第4期45卷 649-662页

作者： Shijing GAO lele ZHANG Jinxi LIU Guoquan NIE Weiqiu CHEN State Key Laboratory of Mechanical Behavior and System Safety of Traffic Engineering Structures Shijiazhuang Tiedao UniversityShijiazhuang 050043China School of Mechanical Engineering Shijiazhuang Tiedao UniversityShijiazhuang 050043China Hebei Key Laboratory for Mechanics of Intelligent Materials and Structures Department of Engineering MechanicsShijiazhuang Tiedao UniversityShijiazhuang 050043China State Key Laboratory of Computer Aided Design and Computer Graphics Key Laboratory of Soft Machines and Smart Devices of Zhejiang ProvinceDepartment of Engineering MechanicsZhejiang UniversityHangzhou 310027China

This paper theoretically studies the axisymmetric frictionless indentation of a transversely isotropic piezoelectric semiconductor(PSC)half-space subject to a rigid flatended cylindrical *** contact area and other surface of the PSC half-space are assumed to be electrically *** the Hankel integral transformation,the problem is reduced to the Fredholm integral equation of the second *** equation is solved numerically to obtain the indentation behaviors of the PSC half-space,mainly including the indentation force-depth relation and the electric potential-depth *** results show that the effect of the semiconductor property on the indentation responses is limited within a certain range of variation of the steady carrier *** dependence of indentation behavior on material properties is also analyzed by two different kinds of *** element simulations are conducted to verify the results calculated by the integral equation technique,and good agreement is demonstrated.

关键词： piezoelectric semiconductor(PSC) insulating indenter electromechanical response singular integral equation finite element simulation

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An aptamer-driven DNA nanodevice for improved delivery of synthetic immunostimulants

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Nano Research 2024年第10期17卷 9078-9083页

作者： Dejie Lu Zhenghan Di lele Li Jian Zhao Li Zheng Guangxi Engineering Center in Biomedical Materials for Tissue and Organ Regeneration Collaborative Innovation Centre of Regenerative Medicine and Medical BioResource Development and ApplicationGuangxi Key Laboratory of Regenerative MedicineThe First Affiliated Hospital of Guangxi Medical UniversityGuangxi Medical UniversityNanning 530021China CAS Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety National Center for Nanoscience and TechnologyBeijing 100190China

Efficient delivery of therapeutics to immune cells remains a formidable challenge for cancer *** this work,we demonstrate that an aptamer-driven DNA nanodevice,constructed through linkage of a synthetic immunostimulant(Toll-like receptor 9 agonist:CpG motif)to an aptamer,could significantly enhance the immunostimulatory activity by facilitating the uptake and retention of therapeutics in *** administration of the DNA nanodevice results in efficient tumor growth inhibition in both breast cancer and melanoma mouse *** studies suggest that the DNA nanodevice leads to reeducation of tumor-associated macrophages and ultimately to reversing the tumor immune *** strategy for aptamer-mediated and vehicle-free delivery of immunostimulatory oligonucleotides provides a potential platform for cancer immunotherapy.

关键词： aptamer immunostimulatory oligonucleotides DNA nanodevice tumor-associated macrophages cancer therapy

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