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Novel MIP gene mutation causes autosomal-dominant congenital cataract

International Journal of Ophthalmology(English edition) 2024年第3期17卷 454-465页

作者： Jing-Lan Ni Hua-Ming Wen Xiao-Sheng Huang Qian-Wen Li Jia-Min Cai bao-jian fan Jun Zhao The Second Clinical Medical College Jinan UniversityShenzhen 518020Guangdong ProvinceChina Department of Ophthalmology Dongguan Chang’an HospitalDongguan 523843Guangdong ProvinceChina Shenzhen Eye Hospital Affiliated to Jinan University Shenzhen Eye InstituteShenzhen 518040Guangdong ProvinceChina Department of Oral&Maxillofacial Surgery Shenzhen Stomatology Hospital Affiliated to Shenzhen UniversityShenzhen 518040Guangdong ProvinceChina Department of Neurosurgery Massachusetts General Hospital and Harvard Medical SchoolBoston 02114MassachusettsUSA Department of Ophthalmology Shenzhen People’s Hospital(the Second Clinical Medical CollegeJinan Universitythe First Affiliated HospitalSouthern University of Science and Technology)Shenzhen 518020Guangdong ProvinceChina

●AIM:To identify disease-causative mutations in families with congenital cataract.●METHODS:Two Chinese families with autosomaldominant congenital cataract(ADCC)were recruited and underwent comprehensive eye *** panel next-generation sequencing of common pathogenic genes of congenital cataract was performed in the proband of each *** sequencing was used to valid the candidate gene mutations and sequence the other family members for co-segregation *** effect of sequence changes on protein structure and function was predicted through bioinformatics *** intrinsic protein(MIP)-wildtype and MIP-G29R plasmids were constructed and microinjected into zebrafish single-cell stage *** embryonic lens phenotypes were screened using confocal microscopy.●RESULTS:A novel heterozygous mutation(c.85G>A;p.G29R)in the MIP gene was identified in the proband of one family.A known heterozygous mutation(c.97C>T;p.R33C;rs864309693)in MIP was found in the proband of another ***-silico prediction indicated that the novel mutation might affect the MIP protein *** embryonic lens was uniformly transparent in both wild-type PCS2+MIP and mutant PCS2+MIP.●CONCLUSION:Two missense mutations in the MIP gene in Chinese cataract families are identified,and one of which is *** findings expand the genetic spectrum of MIP mutations associated with *** functional studies suggest that the novel MIP mutation might not be a gain-of-function but a loss-of-function mutation.

关键词： congenital cataract major intrinsic protein missense mutation zebrafish model

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Acetylene/argon mixture plasma to build ultrathin carbon bridge of CF_(x)/C/MnO_(2) for high-rate lithium primary battery

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Rare Metals 2024年第6期43卷 2574-2584页

作者： Da-Wei Zou Xing-Guang Fu Gao-Bang Chen Yi-fan Liu bao-Shan Wu Xian jian School of Materials and Energy University of Electronic Science and Technology of ChinaChengdu 611731China Yangtze Delta Region Institute(Huzhou) University of Electronic Science and Technology of ChinaHuzhou 31300lChina

Forming an ultrathin conducting layer on a fluorinated carbon(CFx)surface for reducing severe electrochemical polarization in lithium/fluorinated carbon primary batteries(Li/CF_(x))remains a considerable challenge for achieving batteries with excellent rate ***,CFxwas modified by using acetylene/argon mixture plasma combined with MnO_(2)*** CF_(x)/C/MnO_(2)composite effectively reduced the voltage hysteresis and improved the electrochemical performance of Li/CF_(x).The excellent rate performance of CF_(x)/C/MnO_(2)was due to the high electrochemical activity provided by the atomicscale conductive carbon layer and ultrafine MnO_(2)*** with pristine CF_(x),the charge transfer resistance of the optimized CF_(x)/C/MnO_(2)decreased from 218.5 to 48.2Ω,the discharge rate increased from 2C to 10C,and the power density increased from 3.11 to 13.44 kW·g^(-1),The intrinsic reason for the enhanced rate performance was attributed to the fact that the ultrathin carbon layer acted as a conductive bridge to reduce the voltage hysteresis at the initial stage of the Li/CF_(x)discharge,and the high electrochemical activity of the ultrafine MnO_(2)particles provided a faster lithium-ion diffusion rate.

关键词： C_(2)H_(2)/Ar plasma Fluorinated carbon Lithium primary battery MnO_(2)

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Testing Linearity in Functional Partially Linear Models

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Acta Mathematicae Applicatae Sinica 2024年第3期40卷 875-886页

作者： fan-rong ZHAO bao-xue ZHANG School of Mathematical Sciences Shanxi UniversityTaiyuan 030006China School of Statistics Capital University of Economics and BusinessBeijing 100070China

For the functional partially linear models including flexible nonparametric part and functional linear part,the estimators of the nonlinear function and the slope function have been studied in existing *** to test the correlation between response and explanatory variables,however,still seems to be ***,a test procedure for testing the linearity in the functional partially linear models will be proposed in this paper.A test statistic is constructed based on the existing estimators of the nonlinear and the slope ***,we prove that the approximately asymptotic distribution of the proposed statistic is a chi-squared distribution under some regularity ***,some simulation studies and a real data application are presented to demonstrate the performance of the proposed test statistic.

关键词： asymptotic theory functional partially linear model Nadaraya-Watson estimate test statistic

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Comparison of thermal shock resistance capabilities of the rotary swaged pure tungsten,potassium-doped tungsten,and W-La2O3 alloys

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Tungsten 2024年第4期6卷 759-766页

作者： Tao Yang Hao Wang fan Feng Xiang Liu Xue-Yu Gong You-Yun Lian jian-bao Wang School of Nuclear Science and Technology University of South China Southwestern Institute of Physics

Tungsten-based materials are one of the most important candidates for the plasma facing materials（PFMs） of future fusion reactors,and it is necessary to study the properties of tungsten-based materials under the service conditions of fusion devices to ensure the long-term steady-state operation of future fusion *** this paper,different tungsten-based materials made by the same rotary swaging process are selected to simulate the transient thermal loads on the PFMs of a fusion reactor using an electron beam,and thermal load experiments are carried out by changing the power density of a loading pulse and the pulse *** is found that different tungsten-based materials made by the same process have large differences in thermal shock resistance,and the doped tungsten materials（W-K and W-La2O3） are significantly better than the pure tungsten materials with the increase in thermal shock power density and the number of cycles,especially the W-K materials,which have excellent performance.

关键词： Electron beam Rotary swaging Thermal shock Tungsten materials

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AWells-Riley/based COVID-19 infectiousrisk assessment model combining both short rangeandroom scale effects

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Building Simulation 2024年第1期17卷 93-111页

作者： Yinshuai Feng Yifan fan Xiaoyu Luo jian Ge College of Civil Engineering and Architecture Zhejiang UniversityHangzhouChina Center for Balance Architecture Zhejiang UniversityHangzhouChina International Research Center for Green Building and Low-Carbon City International CampusZhejiang UniversityHainingChina

There is growing evidence of the high transmission potential of COVID-19 through virus-laden *** aerosols are inhaled in various concentrations,an overall assessment of transmission risks at different indoor scales is ***,a comprehensive risk assessment method that evaluates the direct link between short-range and room-scale zones is stl *** this paper,a risk assessment model combining both short-range and room-scale effects is developed to obtain effective reproduction number in confined indoor environments,called Turbulent Jet Wells Riley(TJWR)*** with the viral load data and aerosol generation data of different human respiratory activities,the Monte Carlo simulation method is applied to calculate the quanta emission rate,which further provides the input parameters of the TJWR *** known outbreaks(Hangzhou banquet hall X,Guangzhou restaurant Y,and Hong Kong restaurant Z,China)are chosen to validate the TJWR *** show that the TJWR model is more efficient than the original Wells-Riley *** average relative error of the TJWR model ranges between 9%and 44%,while for the Wells-Riley model,it ranges between 57%and 78%.The TJWR model also proves that infection risk assessments using the well-mixed assumption can systematically underestimate the transmission risk for those close to the ***,there is a significant positive linear correlation between the total number of exposed individuals at the short-range and the effective reproduction *** newly developed TJWR model has great potential for rapid and real-time overall airborne transmission risk assessment in buildings and cities.

关键词： COVID-19 airborne transmission infection risk Wells-Riley model Monte Carlo simulation

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Phase Patterning of Poly(oxime-ester)for Information Encryption by Photo-induced Isomerization

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Chinese Journal of Polymer Science 2024年第10期42卷 1488-1494,I0010页

作者： Yu-fan Yang Yun Bai Yi-bao Li Chang-Fei He School of Chemistry and Chemical Engineering Gannan Normal UniversityGanzhou341000China

Crystal polymers or liquid crystal elastomers undergo a phase transition that results in a change in the corresponding optical properties,which has the potential to be applied in areas such as information encryption and *** utilization of these materials for patterning purposes requires different phase transition ***,once prepared,altering the phase transition temperature of them presents significant ***,a poly(oxime-ester)(POE)network is developed to achieve high-resolution and multilevel patterning by photo-induced *** as-prepared POE exhibits the ability to transition from an opaque state to a transparent state under temperature stimuli,with the transition temperature and kinetics dependent on UV light exposure ***,complex patterns and information can be encrypted through different selective regional exposure time and decrypted under specific temperature or cooling ***,we illustrate an example of temporal communication,where cooling time or temperature serves as the encoded *** research expands the application scope of advanced encryption materials,showcasing the potential of POE in dynamic information encryption and decryption processes.

关键词： Poly(oxime-ester) Isomerization Phase patterning Information encryption

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BIM-based framework of automatic tunnel segment assembly and deviation control

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Underground Space 2024年第3期16卷 59-78页

作者： jian Gong Tengfei bao Zheng Zhu Hong Yu Yangtao Li The National Key Laboratory of Water Disaster Prevention Hohai UniversityNanjing 210098China College of Water Conservancy and Hydropower Engineering Hohai UniversityNanjing 210098China College of Hydraulic and Environmental Engineering China Three Gorges UniversityYichang 443002China Zhejiang Design Institute of Water Conservancy and Hydro-Electric Power Hangzhou 310002China

The design of universal segments and deviation control of segment assembly are essential for robust and low-risk tunnel construction.A building information modeling(BIM)-based framework was proposed for parametric modeling,automatic assembly,and deviation control of universal ***,segment models of different levels of detail(LoDs)were built based on BIM visual programming language(VPL)for different project life ***,the geometric constraints,requirements,and procedures for parametric segment assembly were distilled to develop a program that combines a novel typesetting algorithm with a 3D path replanning *** is implemented by introducing a point indication matrix,characterizing segments by sides,and manipulating geometries in a ***,3D path replanning,with non-uniform rational B-splines(NURBS)and arcs as basic shapes,was used to resolve unacceptable deviation situations after ***,the proposed framework was validated on a water diversion line and was found to be more effective and accurate than the previous method.

关键词： Parametric generative design BIM Deviation control Typesetting 3D path replanning

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Application of immune checkpoint inhibitors and microsatellite instability in gastric cancer

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World Journal of Gastroenterology 2024年第21期30卷 2734-2739页

作者： Shi-Yan Yan jian-Gao fan Department of Gastroenterology Xinhua HospitalShanghai Jiaotong University School of MedicineShanghai 200092China

In this editorial we comment on the article by Li published in the recent issue of the World Journal of *** focus specifically on the application of immune checkpoint inhibitors(ICIs)and microsatellite instability(MSI)in gastric cancer(GC).The four pillars of GC management have long been considered,including surgery,chemotherapy,radiotherapy and targeted ***,immunotherapy has recently emerged as a“fifth pillar”,and its use is rapidly *** are four principal strategies for tumor immunotherapy:ICIs,tumor vaccines,adoptive immunotherapy and nonspecific *** them,ICIs are the most advanced and widespread type of cancer immunotherapy for *** breakthrough results for ICIs have paved the way to a new era of cancer *** particular,inhibition of the PD-1/PD-L1 axis with ICIs,including nivolumab and pembrolizumab,has emerged as a novel treatment strategy for advanced ***,these therapies are sometimes associated with often subtle,potentially fatal immune-related adverse events(irAEs),including dermatitis,diarrhea,colitis,endocrinopathy,hepatotoxicity,neuropathy and *** must be aware of these irAEs and improve the detection of these processes to prevent inappropriate discharges,emergency department revisits,and downstream *** studies have revealed that MSI-high or mismatch-repair-deficient tumors,regardless of their primary site,have a promising response to ***,it is important to detect MSI before applying ICIs for treatment of GC.

关键词： Gastric cancer Immune checkpoint inhibitors Microsatellite instability Immunotherapy Immune-related adverse events

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Assembly of peptide nanostructures with controllable sizes

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Nano Research 2024年第1期17卷 151-161页

作者： Dan Cheng fan Jia Yun-bao jiang Vincent P.Conticello Tao jiang The MOE Key Laboratory of Spectrochemical Analysis and Instrumentation Department of ChemistryCollege of Chemistry and Chemical EngineeringXiamen UniversityXiamen 361005China Innovation Laboratory for Sciences and Technologies of Energy Materials of Fujian Province(IKKEM) Xiamen 361005China Department of Chemistry Emory UniversityAtlanta 30033USA

Controlled peptide assembly offers significant promise to develop synthetic supramolecular nanostructures to display material and biological properties that mimic protein assemblies in *** the progress in forming peptide nanostructures of various morphology,there exists a distinct gap between natural and synthetic assembly systems in terms of size *** nanostructures with a narrow size distribution that can be tuned over a wide range of length-scales is essential for applications that require precise spacing between *** approach provides the opportunity to correlate materials and biological properties of interest with assembly *** this review,we discuss representative endeavors over the past two decades for design of size-controllable peptide nanostructures using tunable building *** mechanisms for size control,e.g.,molecular frustration,template-directed peptide assembly,and multi-component peptide co-assembly,will also be *** also demonstrate the applicable scopes of these strategies and suggest potential future avenues for scientific advances in this field.

关键词： peptide assembly controllable size template multi-component

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New model of linkage evolution for the transtensional fault systems in the Nanpu Sag of Bohai Bay Basin: Insight from seismic interpretation and analogue modelling

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Petroleum Science 2024年第4期21卷 2287-2310页

作者： Yu-Heng Wang Fu-Sheng Yu bao-Yin Zhao Ling-jian Meng College of Geosciences China University of Petroleum (Beijing) State Key Laboratory of Petroleum Resources and Prospecting China University of Petroleum (Beijing) Jidong Oilfield Company PetroChina Limited Company

The evolution of faults within the same stress field is frequently influenced by numerous factors,involving the reactivation of pre-existing structures, stress transmission through ductile detachment layers, and the growth, interaction, as well as linkage of new fault segments. This study analyses a complex multi-phase oblique extension fault system in the Nanpu Sag(NPS) of the Bohai Bay Basin(BBB),China. High-resolution three-dimensional(3D) seismic data and analogue modelling indicate that the oblique extensional reactivation of pre-existing structures governs the sequential arrangement of fault segments in the caprock, and they dip synthetically to the reactivated fault at depth. During the NW-SE extension in the Eocene, the predominant movement of the pre-existing fault is strike-slip. Subsequently,during the N-S extension since the Oligocene, inclined at *** the pre-existing fault, forming splay fault segments and ultimately creating large en-echelon arcuate faults linked by relay ramps. Using fault throw-distance(T-D) and laser scanning, we reconstructed the fault evolution model of oblique extension reactivation in the presence of a ductile detachment basement. Our study illustrates that the arcuate faults can be categorized into linear master fault segments controlled by pre-existing structures, bending splay faults in the termination zone, and normal fault segments responding to the regional stress *** interaction between faults occurs among normal faults and strike-slip faults, and the kinematic unification of the two fault systems is accomplished in the intersection zone. As the faults continue to evolve, the new fault segments tend to relinquish the control of pre-existing structures and concentrate more on the development of planar and continuous major faults. The ductile detachment layer significantly contributes to the uniform distribution of strain, resulting in narrow shear zones and discontinuous normal faults in its absence.

关键词： Analogue modelling Transtensional deformation Fault linkage Fault intersection zone Nanpu Sag of Bohai Bay basin

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