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Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report

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World Journal of Clinical Cases 2024年第14期12卷 2445-2450页

作者： Jing Yuan xiang-ming Yan Department of Pediatric Children’s Hospital of Soochow UniversitySuzhou 215025Jiangsu ProvinceChina Department of Surgery Children's Hospital of Soochow UniversitySuzhou 215000Jiangsu ProvinceChina

BACKGROUND We report a rare case of primary clinical presentation featuring elevated creatine kinase(CK)levels in a neonate,which is associated with the LAMA2 *** this case,a heterozygous mutation in exon5 of the LAMA2 gene,c.715C>G(resulting in a change of nucleotide number 715 in the coding region from cytosine to gua-nine),induced an amino acid alteration p.R239G(No.239)in the patient,repre-senting a missense *** observation may be elucidated by the neonatal creatine monitoring mechanism,a phenomenon not previously *** SUMMARY We analysed the case of a neonate presenting solely with elevated CK levels who was eventually discharged after supportive *** chief complaint was identification of increased CK levels for 15 d and higher CK values for 1 ***-mission occurred at 18 d of age,and despite prolonged treatment with creatine and vitamin C,the elevated CK levels showed limited *** exo-me sequencing revealed the presence of a c.715C>G mutation in LAMA2 in the newborn,correlating with a clinical ***,the available informa-tion offers insufficient evidence for clinical *** Mutations in LAMA2 are associated with the clinical phenotype of increased neonatal CK levels,for which no specific treatment *** genome sequen-cing facilitates early diagnosis.

关键词： Creatine kinase LAMA2 Gene mutation Neonate Case report

Diversified calcimicrobes in dendrolites of the Zhangxia Formation, Miaolingian Series(Middle Cambrian) of the North China craton

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Journal of Palaeogeography 2021年第2期10卷 157-181页

作者： ming-xiang me Muhammad Riaz Zhen-Wu Zhang Qing-Fen meng Yuan Hu School of Earth Sciences and Resources China University of GeosciencesBeijing 100083China State Key Laboratory of Biogeology and Environmental Geology China University of GeosciencesBeijing 100083China State Key Laboratory of Oil and Gas Reservoir Geology and Exploitation Chengdu University of TechnologyChengdu 610059China College of Energy Resources Chengdu University of TechnologyChengdu 610059China Centre for Geographical Information System University of the PunjabLahore 54590Pakistan.

As a type of non-laminated microbial carbonates, dendrolites are dominated by isolated dendritic clusters of calcimicrobes and are distinct from stromatolites and thrombolites. The dendrolites in the upper part of the Miaolingian Zhangxia Formation at Anjiazhuang section in Feicheng city of Shandong Province, China, provide an excellent example for further understanding of both growth pattern and forming mechanism of dendrolites. These dendrolites are featured by sedimentary fabrics and composition of calcified microbes as follows.(1) The strata of massive limestones, composed of dendrolites with thickness of more than one hundred meters, intergrade with thick-bedded to massive leiolites, formimg the upper part of a third-order depositional sequence that constitutes a forced regressive systems tract.(2) A centimeter-sized bush-like fabric(shrub) typically produced by calcified microbes is similar to the mesoclot in thrombolites but distinctive from clotted fabrics of thrombolites. This bushlike fabric is actually constituted by diversified calcified microbes like the modern shrub as a result of gliding mobility of filamentous cyanobacteria. Such forms traditionally include: the Epiphyton group(which actually has uncertain biological affinity), the Hedstroemia group which closely resembles modern rivulariacean cyanobacteria,and the possible calcified cyanobacteria of the Lithocodium–Bacinella group.(3) Significantly, dense micrite of leiolite is associated with sponge fossils and burrows, and is covered by microstromatolite. The Lithocodium–Bacinella group is a controversial group of interpreted calcified cyanobacteria in the Cambrian that has also been widely observed and described in the mesozoic. Therefore, dendrolites with symbiosis of leiolites in the studied section provide an extraordinary example for further understanding of growing style of bush-like fabrics(shrubs) of the dendrolites dominated by cyanobacterial mats. Furthermore, the present research provid

关键词： Calcified microbe Dendrolite Leiolite Epiphyton Lithocodium–Bacinella Cambrian Miaolingian Zhangxia Formation

Genetically modified pigs with CD163 point mutation are resistant to HP-PRRSV infection

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Zoological Research 2024年第4期45卷 833-844页

作者： Ying Liu Lin Yang Hong-Yong xiang ming Niu Jia-Cheng Deng Xue-Yuan Li Wen-Jie Hao Hong-Sheng Ou-Yang Tong-Yu Liu Xiao-Chun Tang Da-Xin Pang Hong-ming Yuan State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases Animal Genome Editing Technology Innovation CenterCollege of Animal SciencesJilin UniversityChangchunJilin 130062China Chifeng Best Genetics Technology Co. Ltd.ChifengNei Mongol 024000China Chongqing Jitang Biotechnology Research Institute Co. Ltd.Chongqing 400015China

Porcine reproductive and respiratory syndrome(PRRS)is a globally prevalent contagious disease caused by the positive-strand RNA PRRS virus(PRRSV),resulting in substantial economic losses in the swine *** the CD163 SRCR5 domain,either through deletion or substitution,can eff1ectively confer resistance to PRRSV infection in ***,large fragment modifications in pigs inevitably raise concerns about potential adverse effects on growth *** the impact of genetic modifications on normal physiological functions is a promising direction for developing PRRSV-resistant *** the current study,we identified a specific functional amino acid in CD163 that influences PRRSV *** infection experiments conducted on Marc145 and PK-15CD163 cells illustrated that the me535G or corresponding pE529G mutations markedly inhibited highly pathogenic PRRSV(HP-PRRSV)proliferation by preventing viral binding and ***,individual viral challenge tests revealed that pigs with the E529G mutation had viral loads two orders of magnitude lower than wild-type(WT)pigs,confirming effective resistance to *** of the physiological indicators and scavenger function of CD163 verified no significant differences between the WT and E529G *** findings suggest that E529G pigs can be used for breeding PRRSV-resistant pigs,providing novel insights into controlling future PRRSV outbreaks.

关键词： PRRSV CD163 Point mutation E529G Pigs

Keplerate polyoxomolybdate nanoball mediated controllable preparation of metal-doped molybdenum disulfide for electrocatalytic hydrogen evolution in acidic and alkaline media

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Chinese Chemical Letters 2024年第7期35卷 524-528页

作者： Ping Wang Ting Wang ming Xu Ze Gao Hongyu Li Bowen Li Yuqi Wang Chaoqun Qu ming Feng Key Laboratory of Functional Materials Physics and Chemistry of the Ministry of Education Jilin Normal UniversityChangchun 130103China School of Science Changchun University of Science and TechnologyChangchun 130022China

Rationally designed novel cost-effective hydrogen evolution reaction(HER)electrocatalysts with controlled surface composition and advanced structural superiority is extremely critical to optimize the HER ***(POMs)with structural diversity and adjustable element compositions represent a promising precursor for rational design and preparation of HER ***,a series of transition metal-doped MoS_(2)materials with different surface engineered structures(Fe,Cr,V doping and S vacancies)(M-MoS_(2)/CC,M=Fe,Cr and V)were fabricated by a simple hydrothermalvulcanization strategy using Keplerate polyoxomolybdate nanoball({Mo_(72)Fe_(30)},{Mo_(72)Cr_(30)},{Mo_(72)V_(30)},{Mo_(132)})as *** enlarged interlayer spacing as well as the integration of homogeneous transition metal doping and abundant sulfur vacancies endows prepared M-MoS_(2)/CC with superior HER electrocatalytic performance and excellent long-term working stability in both acidic and alkaline *** optimized Fe-MoS_(2)/CC afford current densities of 10 and 50 mA/cm^(2)at overpotentials of 188/272 mV and 194/394 mV in 0.5 mol/L H_(2)SO_(4)and 1.0 mol/L KOH aqueous solution,respectively,outperforming most of reported typical transition metal sulfide-based *** work represents an important breakthrough for POMs-mediated highly efficient transition metal sulfide-based HER electrocatalysts with wide range pH activity and may provide new options for the rational design of promising HER electrocatalysts and beyond.

关键词： Polyoxometalate Electrocatalytic Hydrogen evolution reaction Doping MoS_(2)

Effective Activation of melamine for Synchronous Synthesis of Catalytically Active Nanosheets and Fluorescence-Responsive Quantum Dots

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Transactions of Tianjin University 2024年第3期30卷 284-296页

作者： Jie Xuan Guijian Guan ming-Yong Han Institute of Molecular Plus Tianjin UniversityTianjin 300072China

Because of the low reactivity of cyclic nitrides,liquid-phase synthesis of carbon nitride introduces challenges despite its favorable potential for energy-efficient preparation and superior *** this study,we demonstrate a strong interaction between citric acid and melamine through experimental observation and theoretical simulation,which eff ectively activates melamine-condensation activity and produces carbon-rich carbon nitride nanosheets(CCN NSs)during hydrothermal *** a large specific surface area and increased light absorption,these CCN NSs demonstrate significantly enhanced photocatalytic activity in CO_(2) reduction,increasing the CO production rate by approximately tenfold compared with hexagonal melamine(h-me).Moreover,the product selectivity of CCN NSs reaches up to 93.5%to generate CO from CO_(2).Furthermore,the annealed CCN NSs exhibit a CO conversion rate of up to 95.30μmol/(g h),which indicates an 18-fold increase compared with traditional carbon *** the CCN NS synthesis,nitrogen-doped carbon quantum dots(NDC QDs)are simultaneously produced and remain suspended in the supernatant after *** QDs disperse well in water and exhibit excellent luminescent properties(QY=67.2%),allowing their application in the design of selective and sensitive sensors to detect pollutants such as pesticide 2,4-dichlorophenol with a detection limit of as low as 0.04μmol/***,the simultaneous synthesis of CCN NSs and NDC QDs provides a cost-eff ective and highly efficient process,yielding products with superior capabilities for catalytic conversion of CO_(2) and pollutant detection,respectively.

关键词： Carbon nitride Hydrothermal reaction Photocatalysis Carbon dioxide Quantum dots

Quantitative analysis and prediction of the sound field convergence zone in mesoscale eddy environment based on data mining methods

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Acta Oceanologica Sinica 2024年第5期43卷 110-120页

作者： ming Li Yuhang Liu Yiyuan Sun Kefeng Liu College of Advanced Interdisciplinary Studies National University of Defense TechnologyNanjing 211101China Jiangsu Ocean University Lianyungang 222061China College of Horticulture Forestry Sciences Huazhong Agricultural UniversityWuhan 430070China

The mesoscale eddy(me)has a significant influence on the convergence effect in deep-sea acoustic *** paper use statistical approaches to express quantitative relationships between the me conditions and convergence zone(CZ)*** on the Gaussian vortex model,we construct various sound propagation scenarios under different eddy conditions,and carry out sound propagation experiments to obtain simulation *** a large number of samples,we first adopt the unified regression to set up analytic relationships between eddy conditions and CZ *** sensitivity of eddy indicators to the CZ is quantitatively ***,we adopt the machine learning(ML)algorithms to establish prediction models of CZ parameters by exploring the nonlinear relationships between multiple me indicators and CZ *** the research,we can express the influence of me on the CZ quantitatively,and achieve the rapid prediction of CZ parameters in ocean *** prediction accuracy(R)of the CZ distance(mean R:0.9815)is obviously better than that of the CZ width(mean R:0.8728).Among the three ML algorithms,Gradient Boosting Decision Tree has the best prediction ability(root mean square error(RMSE):0.136),followed by Random Forest(RMSE:0.441)and Extreme Learning Machine(RMSE:0.518).

关键词： convergence zone mesoscale eddy statistic analysis quantitative prediction machine learning

不饱和脂质氮杂环丙烷化反应中间体的原位质谱分析

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质谱学报 2024年第1期45卷 149-156,I0005页

作者：陈凯祥魏是奇陈素明武汉大学高等研究院湖北武汉430072

脂质结构决定生物功能,对不饱和脂质C C双键异构体的鉴定面临着挑战。直接的氮-甲基(N-me)氮杂环丙烷化反应可以对不饱和脂质双键进行衍生,通过与串联质谱结合可实现不饱和脂质双键位置的解析。然而,目前N-me氮杂环丙烷化反应机理研究... 详细信息

脂质结构决定生物功能,对不饱和脂质C C双键异构体的鉴定面临着挑战。直接的氮-甲基(N-me)氮杂环丙烷化反应可以对不饱和脂质双键进行衍生,通过与串联质谱结合可实现不饱和脂质双键位置的解析。然而,目前N-me氮杂环丙烷化反应机理研究尚缺乏中间过程的直接证据。本工作采用一种基于θ毛细管的纳升静电喷雾离子化质谱(nESTASI-MS)分析装置,研究不饱和磷脂酰胆碱的氮杂环丙烷化反应过程,捕获并鉴定了反应过程中的关键中间体,为阐明氮杂环丙烷化反应机理提供了直接证据。

关键词：质谱(MS) 化学反应中间体氮杂环丙烷化反应双键位置鉴定

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Immobilizing Triphenylamine with Photoredox Inert Sr^(2+)Forming Sr-MOF with Controlled Electron Migration for Photocatalytic Oxidation of Thiols to Disulfides

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Chinese Journal of Chemistry 2024年第10期42卷 1093-1099页

作者： Ying-Xia Wang Fang Zheng Dong-Xia Song Bao-Yue Niu Lu-Qian Deng Xian-ming Zhang Key Laboratory of Magnetic Molecules and Magnetic Information Materials(Ministry of Education) Schoolof Chemistry and Materials ScienceShanxi Normal UniversityTaiyuanShanxi 030006China Key Laboratory of Interface Science and Engineering in Advanced Material(Ministry of Education) College of ChemistryTaiyuan University of TechnologyTaiyuanShanxi 030024China

The photocatalytic oxidative coupling of thiols is one of the most popular methods to synthesize the *** and its derivatives(TPAs)are promising for the above reaction,but suffer from the easy polymerization and difficult *** overcome these obstacles while controlling the photogenerated electrons transfer directly to target substrates,herein,we constructed one TPA-based metal-organic framework(MOF),(me_(2)NH_(2))[Sr(TCBPA)]·DMA·3H_(2)O(1),by direct self-assembly of tris(4′-carboxybiphenyl)amine(H_(3)TCBPA)and photoredox inert strontium ion(Sr^(2+)).DFT calculations revealed that the valence band maximum(VBM)and the conduction band minimum(CBM)are mainly located on TCBPA^(3-),successfully inhibiting the undesirable electron migration to metal *** results indicated that 1 displays superior performance than homogeneous H_(3)TCBPA,which may result from the abundant π…π and C—H…π interactions between the well-arranged TCBPA^(3-)and the build-in electric field between the anionic framework and the me_(2)NH^(2+).This work highlights that immobilizing TPAs into MOFs is one promising approach to designing heterogeneous photocatalysts for the synthesis of disulfides by oxidative coupling of thiols.

关键词： Triphenylamine metal-organic frameworks Strontium Photooxidation Thiols Disulfides

A prognostic four-gene signature and a therapeutic strategy for hepatocellular carcinoma:Construction and analysis of a circRNA-mediated competing endogenous RNA network

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Hepatobiliary & Pancreatic Diseases International 2024年第3期23卷 272-287页

作者： Hai-Yan Zhang Jia-Jie Zhu Zong-ming Liu Yu-Xuan Zhang Jia-Jia Chen Ke-Da Chen Zhejiang Chinese medical University Hangzhou 310053China Shulan International medical College Zhejiang Shuren UniversityHangzhou 310015China State Key Laboratory for Diagnosis and Treatment of Infectious Diseases National Clinical Research Center for Infectious DiseasesNational Medical Center for Infectious DiseasesCollaborative Innovation Center for Diagnosis and Treatment of Infectious DiseasesThe First Affiliated HospitalZhejiang University School of MedicineHangzhou 310009China

Background:Hepatocellular carcinoma(HCC)has a poor long-term *** competition of circular RNAs(circRNAs)with endogenous RNA is a novel tool for predicting HCC *** on the alterations of circRNA regulatory networks,the analysis of gene modules related to HCC is ***:Multiple expression datasets and RNA element targeting prediction tools were used to construct a circRNA-microRNA-mRNA network in *** function,pathway,and protein interaction analyses were performed for the differentially expressed genes(DEGs)in this regulatory *** the proteinprotein interaction network,hub genes were identified and subjected to regression analysis,producing an optimized four-gene signature for prognostic risk stratification in HCC ***-HCC drugs were excavated by assessing the DEGs between the low-and high-risk groups.A circRNA-microRNA-hub gene subnetwork was constructed,in which three hallmark genes,KIF4A,CCNA2,and PBK,were subjected to functional enrichment ***:A four-gene signature(KIF4A,CCNA2,PBK,and ZWINT)that effectively estimated the overall survival and aided in prognostic risk assessment in the The Cancer Genome Atlas(TCGA)cohort and International Cancer Genome Consortium(ICGC)cohort was *** inhibitors,PI3K inhibitors,HDAC inhibitors,and EGFR inhibitors were predicted as four potential mechanisms of drug action(MOA)in high-risk HCC *** analysis has revealed that PBK,CCNA2,and KIF4A play a crucial role in regulating the tumor microenvironment by promoting immune cell invasion,regulating microsatellite instability(MSI),and exerting an impact on HCC ***:The present study highlights the role of the circRNA-related regulatory network,identifies a four-gene prognostic signature and biomarkers,and further identifies novel therapy for HCC.

关键词： Hepatocellular carcinoma circRNA-related ceRNA network Biomarker Least absolute shrinkage and selection operator Bioinformatics