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Novel MIP gene mutation causes autosomal-dominant congenital cataract

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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

Copper-based nanodots as efficient biomimetic antibiotics for the treatment of oral bacterial infections Author links open overlay panel

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Particuology 2024年第8期91卷 190-201页

作者： Ying li Nan Tang lingling zhao Xingfu bao Yuzhuo Wang Zhanxin Wang Min Hu jilin Provincial Key Laboratory of Tooth Development and Bone Remodeling School and Hospital of StomatologyJilin UniversityChangchunChina Beijing Advanced Innovation Center for Soft Matter Science and Engineering College of Life Science and TechnologyBeijing University of Chemical TechnologyBeijingChina

Oral infectious diseases caused by a variety of pathogenic bacteria seriously affect the quality of ***,these diseases remain a clinical challenge because of the lack of simple,safe,and universal *** address these limitations,we synthesize CuO_(x)nanodots(CuO_(x)NDs)with excellent Fenton-like reaction activity and utilize them in the treatment of oral bacterial *** from other complicated approaches,CuO_(x)NDs are rationally prepared using a facile one-pot aqueous *** the presence of H_(2)O_(2),these well-developed CuO_(x)NDs can efficiently catalyze the generation of hydroxyl radicals(·OH)around oral pathogens,leading to the death of various ***,results of biosafety indicate the high biocompatibility and extremely low toxicity of these CuO_(x)*** understanding the admirable in vitro antibacterial effect of CuO_(x)NDs in the presence of H_(2)O_(2),we further explore their in vivo antibacterial performance on several classical animal models including oral mucosal wound model,intragingival bacteria-infected model,and the periodontal infection *** expected,these CuO_(x)NDs with wide-spectrum antibacterial activity can serve as high-performance antibacterial reagents for the treatment of various oral bacterial infections with the help of H_(2)O_(2).In brief,current nanoplatform can act as efficient antibiotics against oral pathogens with broadening the biomedical applications of copper-based nanomaterials.

关键词： Antibacterial treatment Oral diseases Fenton-likecatalytic reaction Reactive oxygen species

An adaptive finite-difference method for seismic traveltime modeling based on 3D eikonal equation

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Petroleum Science 2024年第1期21卷 195-205页

作者： bao-Ping Qiao Qing-Qing li Wei-Guang He Dan zhao Qu-Bo Wu CNNC Beijing Research Institute of Uranium Geology Beijing 100029China National Key Laboratory of Deep Oil and Gas China University of Petroleum(East China)Qingdao 266580ShangdongChina SINOPEC Geophysical Research Institute Nanjing211103JiangsuChina

3D eikonal equation is a partial differential equation for the calculation of first-arrival traveltimes and has been widely applied in many scopes such as ray tracing,source localization,reflection migration,seismic monitoring and tomographic *** recent years,many advanced methods have been developed to solve the 3D eikonal equation in heterogeneous ***,there are still challenges for the stable and accurate calculation of first-arrival traveltimes in 3D strongly inhomogeneous *** this paper,we propose an adaptive finite-difference(AFD)method to numerically solve the 3D eikonal *** novel method makes full use of the advantages of different local operators characterizing different seismic wave types to calculate factors and traveltimes,and then the most accurate factor and traveltime are adaptively selected for the convergent updating based on the Fermat *** with global fast sweeping describing seismic waves propagating along eight directions in 3D media,our novel method can achieve the robust calculation of first-arrival traveltimes with high precision at grid points either near source point or far away from source point even in a velocity model with large and sharp *** numerical examples show the good performance of the AFD method,which will be beneficial to many scientific applications.

关键词： 3D eikonal equation Accurate traveltimes Global fast sweeping 3D inhomogeneous media Adaptive finite-difference method

Elimination of cracks in stainless steel casings via 3D printed sand molds with an internal topology structure

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China Foundry 2024年第4期21卷 319-326页

作者： Jun-hang Xu bao-zhi li zhao-wei Song Yun-bao Gao jing-ming li Yu Wang Qiu-lin Wen Heng Cao Zeng-rui Wang National Key Laboratory of Advanced Casting Technologies Shenyang 110022China Shenyang Research Institute of Foundry Co. Ltd.CAMShenyang 110022China

The important supporting component in a gas turbine is the casing,which has the characteristics of large size,complex structure,and thin *** the context of existing 3DP sand casting processes,casting crack defects are prone to *** leads to an increase in the scrap rate of casings,causing significant resource ***,the presence of cracks poses a significant safety hazard after the casings are put into *** generation of different types of crack defects in stainless steel casings is closely related to casting stress and the high-temperature concession of the sand ***,the types and causes of cracks in stainless steel casing products,based on their structural characteristics,were systematically *** sand molds with different internal topology designs were printed using the 3DP technology to investigate the impact of sand mold structures on high-temperature *** optimal sand mold structure was used to cast casings,and the crack suppression effect was verified by analyzing its eddy current testing *** experimental results indicate that the skeleton structure has an excellent effect on suppressing cracks in the *** research holds important theoretical and engineering significance in improving the quality of casing castings and reducing production costs.

关键词： gas turbine casing crack defects 3D printed sand mold topological structure high-temperature concession

Regulating Signal Pathway Triggers Circular Reactive Oxygen Species Production to Augment Oxidative Stress with Enzyme-Activated Nanoparticles

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CCS Chemistry 2024年第3期6卷 693-708页

作者： Benkai bao Qiong Yuan qian Feng ling li Meiqi li Yanli Tang Key Laboratory of Analytical Chemistry for life Science of Shaanxi Province Key Laboratory of Applied Surface and Colloid ChemistryMinistry of EducationSchool of Chemistry and Chemical EngineeringShaanxi Normal UniversityXi’anShaanxi Province 710119

Regulating antioxidative stress pathways to augment oxidative stress and enhance antitumor therapy is highly desirable but very ***,we initiated a multifunctional nanoparticle to regulate the Keap1-Nrf2 antioxidative stress pathway to promote cancer cell *** OPFV-SnMP@GE11 nanoparticles were assembled by enzyme-activated OPFV-TLQ,tin mesoporphyrin(SnMP),and ***-SnMP@GE11 accumulated at tumor sites through specific targeting with ***-TLQ was specifically reduced to a photosensitizer OPFVNH2 by endocellular NAD(P)H:quinone oxidoreductase 1(NQO1).Under irradiation,OPFV-NH2 greatly produced reactive oxygen species(ROS)through a type I mechanism,which activated the Keap1-Nrf2 signal pathway and enhanced the transcription of NQO1,resulting in a continuous and explosive generation of ***,SnMP inhibited the activity of heme oxygenase-1(HO-1),further depressing antioxidative *** strategy provides insight into the regulation of the signal pathway to amplify oxidative stress,paving the way to studying the molecular mechanisms of cellular activities to enhance cancer therapy.

关键词： Keap1-Nrf2 pathway enzyme-activated probe reactive oxygen species oxidative stress antitumor therapy

Fibroblast-localized lncRNA CFIRL promotes cardiac fibrosis and dysfunction in dilated cardiomyopathy

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Science China(life Sciences) 2024年第6期67卷 1155-1169页

作者： Shuai Yuan Xudong Zhang jiabing Zhan rong Xie jiahui Fan Beibei Dai Yanru zhao Zhongwei Yin qian liu Dao Wen Wang Huaping li Chen Chen Division of Cardiology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Hubei Key Laboratory of Genetics and Molecular Mechanisms of Cardiological Disorders Wuhan 430030China Department of Forensic Medicine Tongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China

CFIRL is a long noncoding RNA(lnc RNA),we previously identified as the most significantly upregulated lnc RNA in the failing hearts of patients with dilated cardiomyopathy(DCM).In this study,we determined the function of CFIRL and its role in ***-time polymerase chain reaction and in situ hybridization assays revealed that CFIRL was primarily localized in the nucleus of cardiac fibroblasts and robustly increased in failing *** knockdown or fibroblast-specific knockout of CFIRL attenuated transverse aortic constriction(TAC)-induced cardiac dysfunction and fibrosis in *** of CFIRL in vitro promoted fibroblast proliferation and aggravated angiotensin II-induced differentiation to *** knockdown attenuated these ***,RNA pull-down assay and gene expression profiling revealed that CFIRL recruited ENO1,a newly identified noncanonical transcriptional factor,to activate ***-6 exerted a paracrine effect on cardiomyocytes to promote cardiac hypertrophy,which can be prevented by CFIRL *** findings uncover the critical role of CFIRL,a fibroblast-associated lnc RNA,in heart failure by facilitating crosstalk between fibroblasts and *** knockdown might be a potent strategy to prevent cardiac remodeling in heart failure,particularly in DCM.

关键词： lncRNA fibroblast fibrosis dilated cardiomyopathy heart failure

The influence of proxy selection on global annual mean temperature reconstructions during the Common Era

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Science China Earth Sciences 2024年第8期67卷 2522-2534页

作者： bao YANG Xia li Minhui HE Feng WANG Yesi zhao Peng ZHANG jianglin WANG Frontiers Science Center for Critical Earth Material Cycling School of Geography and Ocean ScienceNanjing UniversityNanjing 210023China Key Laboratory of Desert and Desertification Northwest Institute of Eco-Environment and ResourcesChinese Academy of SciencesLanzhou 730000China Centre Eau Terre Environnement Institut National de la Recherche ScientifiqueQuébecQCG1K 9A9Canada GEOTOP Research Centre in the Dynamics of the Earth System MontréalQC H2X 3Y7Canada

The reconstruction of global annual mean temperatures made by the PAGES 2k Consortium in 2019 represents one of the most influential sequences of global climate variability over the Common ***,it is still not clear how the reconstruction can be influenced by the selection of reconstruction methods and the selection of proxy records with different temporal resolutions over different *** adopt a widely used Composite-Plus-Scale method to elucidate the effects of the selection of the proxy records on temperature *** ensure the uniformity of data,different types of proxy records spanning the past~2000 years from the PAGES 2k proxy network were used to investigate the potential effects of proxy selection in hemispheric and global temperature reconstructions during the past two *** long-term trends,spectral characteristics,and volcanic responses of the annual temperatures were studied based on the *** results reveal a significant cooling trend in the global annual mean temperature using both tree-ring and non-tree-ring records during the 1–1850CE period,and show that the cooling exhibits a stronger trend in the Southern Hemisphere(SH)than that in the Northern Hemisphere(NH).Yet,the long-term trends vary according to different combinations of proxy *** reconstructions based on different types of proxies also exhibit different features in terms of volcanic responses and spectral ***-ring-based temperature reconstructions show stronger cooling responses to tropical volcanic eruptions,while non-tree-ring-based reconstructions suggest less robust volcanic responses,which may be related to dating uncertainties and low temporal resolution of the ***-ring width records tend to preserve a substantial proportion of high-frequency(lity,whereas non-tree-ring proxies tend to capture a larger fraction of low-frequency(>200 years)*** are needed to reduce uncertainti

关键词： Millennial cooling trend Global climate change Proxy records Volcanic eruptions Spectral properties Common Era

Tipping Point Detection Using Reservoir Computing

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Research 2024年第1期2023卷 779-790页

作者： Xin li Qunxi Zhu Chengli zhao Xuzhe qian Xue Zhang Xiaojun Duan Wei lin College of Science National University of Defense TechnologyChangshaHunan 410073China Research Institute of Intelligent Complex Systems and MOE Frontiers Center for Brain Science Fudan UniversityShanghai 200433China Shanghai Artificial Intelligence Laboratory Shanghai 200232China School of Mathematical Sciences SCMSSCAMand CCSBFudan UniversityShanghai 200433China

Detection in high fidelity of tipping points,the emergence of which is often induced by invisible changes in internal structures or/and external interferences,is paramountly beneficial to understanding and predicting complex dynamical systems(CDSs).Detection approaches,which have been fruitfully developed from several perspectives(e.g.,statistics,dynamics,and machine learning),have their own advantages but still encounter difficulties in the face of high-dimensional,fluctuating ***,using the reservoir computing(RC),a recently notable,resource-conserving machine learning method for reconstructing and predicting CDSs,we articulate a model-free framework to accomplish the detection only using the time series observationally recorded from the underlying unknown CDSs.

关键词： computing record ping

Data-driven Wasserstein distributionally robust chance-constrained optimization for crude oil scheduling under uncertainty

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Chinese Journal of Chemical Engineering 2024年第5期69卷 152-166页

作者： Xin Dai liang zhao Renchu He Wenli Du Weimin Zhong Zhi li Feng qian Key Laboratory of Smart Manufacturing in Energy Chemical Process Ministry of EducationEast China University of Science and TechnologyShanghai 200237China Engineering Research Center of Process System Engineering Ministry of EducationEast China University of Science and TechnologyShanghai 200237China

Crude oil scheduling optimization is an effective method to enhance the economic benefits of oil *** uncertainties,including uncertain demands of crude distillation units(CDUs),might make the production plans made by the traditional deterministic optimization models infeasible.A data-driven Wasserstein distributionally robust chance-constrained(WDRCC)optimization approach is proposed in this paper to deal with demand uncertainty in crude oil ***,a new deterministic crude oil scheduling optimization model is developed as the basis of this *** Wasserstein distance is then used to build ambiguity sets from historical data to describe the possible realizations of probability distributions of uncertain demands.A cross-validation method is advanced to choose suitable radii for these ambiguity *** deterministic model is reformulated as a WDRCC optimization model for crude oil scheduling to guarantee the demand constraints hold with a desired high probability even in the worst situation in ambiguity *** proposed WDRCC model is transferred into an equivalent conditional value-at-risk representation and further derived as a mixed-integer nonlinear programming *** case studies from a real-world refinery are conducted to show the effectiveness of the proposed ***-of-sample tests demonstrate that the solution of the WDRCC model is more robust than those of the deterministic model and the chance-constrained model.

关键词： Distributions Model Optimization Crude oil scheduling Wasserstein distance Distributionally robust chance constraints