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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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Across two phylogeographic breaks: Quaternary evolutionary history of a mountain aspen (Populus rotundifolia) in the Hengduan Mountains

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Plant diversity 2024年第3期46卷 321-332页

作者： Jieshi Tang Xiaoyan Fan richard I.Milne Heng Yang Wenjing Tao Xinran Zhang Mengyun Guo Jialiang Li Kangshan Mao Key Laboratory of Bio-Resource and Eco-Environment of Ministry of Education College of Life SciencesState Key Laboratory of Hydraulics and Mountain River EngineeringSichuan UniversityChengdu 610065PR China Institute of Molecular Plant Sciences University of EdinburghEdinburgh EH93JHUK School of Ecology and Environment Tibet UniversityLhasa 850000PR China

Biogeographical barriers to gene flow are central to plant *** East Asia,plant distribution is greatly influenced by two phylogeographic breaks,the Mekong-Salween divide and Tanaka-Kaiyong Line,however,few studies have investigated how these barriers affect the genetic diversity of species that are distributed across *** we used 14 microsatellite loci and four chloroplast dNA fragments to examine genetic diversity and distribution patterns of 49 populations of Populus rotundifolia,a species that spans both the Mekong-Salween divide and the Tanaka-Kaiyong Line in southwestern *** and migration hypotheses were tested using coalescent-based *** historical gene flow was observed between the western and eastern groups of ***,but substantial flow occurred across both the Mekong-Salween divide and Tanaka-Kaiyong Line,manifesting in clear admixture and high genetic diversity in the central ***-borne pollen and seeds may have facilitated the dispersal of *** following prevalent northwest winds in the *** also found that the Hengduan Mountains,where multiple genetic barriers were detected,acted on the whole as a barrier between the western and eastern groups of *** niche modeling suggested that *** has undergone range expansion since the last glacial maximum,and demographic reconstruction indicated an earlier population expansion around 600 *** phylogeographic pattern of *** reflects the interplay of biological traits,wind patterns,barriers,niche differentiation,and Quaternary climate *** study emphasizes the need for multiple lines of evidence in understanding the Quaternary evolution of plants in topographically complex areas.

关键词： Chloroplast dNA Microsatellite Phylogeographic break Populus rotundifolia Quaternary history Wind direction

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Prevalence of Gender-Based Violence among Sex Workers in Bangui, Central African Republic (CAR)

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Advances in Sexual Medicine 2024年第2期14卷 13-20页

作者： d. Mossoro-Kpinde Hermione S. C. diemer Henri R. Tende Nzengou richard S. Siki Francis J. d. d. Tekpa Bertrand Ministry of Labor Employment Social Protection and Vocational Training Bangui Central African Republic department of Public Health Faculty of Health Sciences University of Bangui Bangui Central African Republic Community of the Tree of Life Bangui Central African Republic Traumatology department The Central African Republic RCA Community Hospital Bangui Central African Republic

Background: Violence against women has become an international public health and human rights issue in recent decades. The violence suffered by sex workers is of little interest for research, yet it constitutes a major health and safety problem. We propose to assess the extent of the phenomenon of gender-based violence (GBV) among sex workers (SWs) in the city of Bangui in the CAR. Methodology: This is a descriptive cross-sectional epidemiological study covering the period from July to October 2021 carried out among SWs in Bangui, the capital of the CAR. Given that the SWs association had only 159 members in Bangui, an exhaustive sampling was retained. Were included in the study, any SW present during the data collection period and having given their written consent. The parameters studied were socio-demographic characteristics: age, sex, residence, level of education, marital status, and characteristics linked to violence: the notion of violence during their professional activity, the type of violence, the declaration and the declaration if necessary, the response and management of this violence. The data collected was analyzed using Epi info version 7 software. Results: Of the 159 SWs that counted the association, 108 had been included. The average age was 27.0 years with extremes of 14 and 46 years. The age groups of 25 to 34 years were the most represented (43.5%). Fifty-six SWs (51.9%) had reached the secondary level. Unemployed SWs were in the majority at 74.1%;Sixty-six (66) SWs in our sample (61.1%) had already been victims of violence during the exercise of their activity Sexual violence was the most represented (28.5%) followed by verbal violence (22.4%). Sixty-eight (62.9%) wanted to stop the professional activity of SWs and 93.1% would accept another income-generating activity in place of sex work. Conclusion: It is necessary to supervise SWs and protect them within the framework of respect for human rights, rather than criminalizing them and the exploit

关键词： Female Sex Workers Gender-Based Violence Central African Republic

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Fluorescent probes and functional materials for biomedical applications

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Frontiers of Chemical Science and Engineering 2022年第10期16卷 1425-1437页

作者： Xi-Le Hu Hui-Qi Gan Fan-de Meng Hai-Hao Han de-Tai Shi Shu Zhang Lei Zou Xiao-Peng He Tony d.james Key Laboratory for Advanced Materials and Joint International Research Laboratory of Precision Chemistry and Molecular Engineering Feringa Nobel Prize Scientist Joint Research CenterSchool of Chemistry and Molecular EngineeringEast China University of Science and TechnologyShanghai 200237China department of Chemistry University of BathBath BA27AYUK Liver Cancer Institute Zhongshan Hospitaland Key Laboratory of Carcinogenesis and Cancer Invasion(Ministry of Education)Fudan UniversityShanghai 200032China School of Chemistry and Chemical Engineering Henan Normal UniversityXinxiang 453007China School of Materials Science and Engineering Jingdezhen Ceramic InstituteJingdezhen 333403China

due to their simplicity in preparation,sensitivity and selectivity,fluorescent probes have become the analytical tool of choice in a wide range of research and industrial fields,facilitating the rapid detection of chemical substances of interest as well as the study of important physiological and pathological processes at the cellular *** addition,many long-wavelength fluorescent probes developed have also proven applicable for in vivo biomedical applications including fluorescenceguided disease diagnosis and theranostics(e.g.,fluorogenic prodrugs).Impressive progresses have been made in the development of sensing agents and materials for the detection of ions,organic small molecules,and biomacromolecules including enzymes,dNAs/RNAs,lipids,and carbohydrates that play crucial roles in biological and disease-relevant ***,we highlight examples of fluorescent probes and functional materials for biological applications selected from the special issues“Fluorescent Probes”and“Molecular Sensors and Logic Gates”recently published in this journal,offering insights into the future development of powerful fluorescence-based chemical tools for basic biological studies and clinical translation.

关键词： fluorescent probes imaging cell biomedicine biomolecules

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A practical strategy to develop isoform-selective near-infrared fluorescent probes for human cytochrome P450 enzymes

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Acta Pharmaceutica Sinica B 2022年第4期12卷 1976-1986页

作者： Lei Feng Xiangge Tian dahong Yao Zhenlong Yu Xiaokui Huo Zhenhao Tian Jing Ning Jingnan Cui Tony d.james Xiaochi Ma Second Affiliated Hospital Dalian Medical UniversityDalian 116023China College of Pharmacy the National&Local Joint Engineering Research Center for Drug Development of Neurodegenerative DiseaseDalian Medical UniversityDalian 116044China School of Pharmaceutical Sciences Shenzhen Technology UniversityShenzhen 518060China State Key Laboratory of Fine Chemicals Dalian University of TechnologyDalian 116024China department of Chemistry University of BathBath BA27AYUK School of Chemistry and Chemical Engineering Henan Normal UniversityXinxiang 453007China

Currently,the development of selective fluorescent probes toward targeted enzymes is still a great challenge,due to the existence of numerous isoenzymes that share similar catalytic ***,a double-filtering strategy was established to effectively develop isoenzyme-specific fluorescent probe(s)for cytochrome P450(CYP)which are key enzymes involving in metabolism of endogenous substances and *** the first-stage of our filtering approach,near-infrared(NIR)fluorophores with alkoxyl group were prepared for the screening of CYP-activated fluorescent substrates using a CYPs-dependent incubation *** the second stage of our filtering approach,these candidates were further screened using reverse protein-ligand docking to effectively determine CYP isoenzyme-specific probe(s).Using our double-filtering approach,probes S9 and S10 were successfully developed for the real-time and selective detection of CYP2C9 and CYP2J2,respectively,to facilitate high-throughput screening and assessment of CYP2C9-mediated clinical drug interaction risks and CYP2J2-associated disease *** observations suggest that our strategy could be used to develop the isoform-specific probes for CYPs.

关键词： Enzyme activity bioimaging Cytochrome P450 drugedrug interactions Biomarker analysis Fluorescent probe

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Enhancing Human Action Recognition with Adaptive Hybrid deep Attentive Networks and Archerfish Optimization

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Computers, Materials & Continua 2024年第9期80卷 4791-4812页

作者： Ahmad Yahiya Ahmad Bani Ahmad Jafar Alzubi Sophers james Vincent Omollo Nyangaresi Chanthirasekaran Kutralakani Anguraju Krishnan department of Accounting and Finance Faculty of BusinessMiddle East UniversityAmman11831Jordan Faculty of Engineering Al-Balqa Applied UniversitySalt19117Jordan department of Mathematics Kongunadu College of Engineering and Technology(Autonomous)TholurpattiTrichy621215India department of Computer Science and Software Engineering Jaramogi Oginga Odinga University of Science and TechnologyBondo210-40601Kenya department of Electronics and Communication Engineering Saveetha School of EngineeringSaveetha Institute of Medical and Technical SciencesChennai602105India department of Electronics and Communication Engineering Saveetha Engineering College(Autonomous)Chennai602105India department of Computer Science and Engineering Kongunadu College of Engineering and Technology(Autonomous)TholurpattiTrichy621215India

In recent years,wearable devices-based Human Activity Recognition(HAR)models have received significant *** developed HAR models use hand-crafted features to recognize human activities,leading to the extraction of basic *** images captured by wearable sensors contain advanced features,allowing them to be analyzed by deep learning algorithms to enhance the detection and recognition of human *** lighting and limited sensor capabilities can impact data quality,making the recognition of human actions a challenging *** unimodal-based HAR approaches are not suitable in a real-time ***,an updated HAR model is developed using multiple types of data and an advanced deep-learning ***,the required signals and sensor data are accumulated from the standard *** these signals,the wave features are *** the extracted wave features and sensor data are given as the input to recognize the human *** Adaptive Hybrid deep Attentive Network(AHdAN)is developed by incorporating a“1d Convolutional Neural Network(1dCNN)”with a“Gated Recurrent Unit(GRU)”for the human activity recognition ***,the Enhanced Archerfish Hunting Optimizer(EAHO)is suggested to fine-tune the network parameters for enhancing the recognition *** experimental evaluation is performed on various deep learning networks and heuristic algorithms to confirm the effectiveness of the proposed HAR *** EAHO-based HAR model outperforms traditional deep learning networks with an accuracy of 95.36,95.25 for recall,95.48 for specificity,and 95.47 for precision,*** result proved that the developed model is effective in recognizing human action by taking less ***,it reduces the computation complexity and overfitting issue through using an optimization approach.

关键词： Human action recognition multi-modal sensor data and signals adaptive hybrid deep attentive network enhanced archerfish hunting optimizer 1d convolutional neural network gated recurrent units

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Improved Units of Measure in Rotational Mechanics

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World Journal of Mechanics（力学国际期刊） 2024年第1期 1页

作者： richard james Petti

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Symptom presentation and evolution in the first 48 hours after injury are associated with return to play after concussion in elite Rugby Union

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Journal of Sport and Health Science 2024年第3期13卷 387-397页

作者： Ross Tucker Matt Cross Keith Stokes Lindsay Starling Rosy Hyman Simon Kemp Stephen West Martin Raftery Eanna Falvey james Brown Institute of Sport and Exercise Medicine(ISEM) Department of ExerciseUniversity of StellenboschTygerberg 7505South Africa World Rugby Ltd. Dublin D02 AE93Ireland Premiership Rugby London SW1V 1PXUK Centre for Health and Injury and Illness Prevention in SportUniversity of BathClaverton Down BA27AYUK UK Collaborating Centre on Injury and Illness Prevention in Sport(UKCCIIS) University of BathClaverton Down BA27AYUK Rugby Football Union London TW27BAUK London School of Tropical Medicine London WC1E 7HTUK Sport Injury Prevention Research Centre Faculty of KinesiologyUniversity of CalgaryCalgary T2N 1N4Canada department of Medicine School of Medicine and HealthUniversity College CorkCork T12 EC8PIreland Carnegie Applied Rugby Research(CARR)centre Carnegie School of SportLeeds Beckett UniversityLeeds LS63QSUK

Background:Return to play(RTP)in elite rugby is managed using a 6-stage graduated RTP protocol,which can result in clearance to play within 1 week of *** aimed to explore how symptom,cognitive,and balance presentation and evolution during concussion screens 2 h(head injury assessment(HIA2)and 48 h(HIA3)after injury were associated with time to RTP)to identify whether a more conservative graduated RTP may be ***:A retrospective cohort study was conducted in 380 concussed rugby players from elite men’s rugby over 3 consecutive *** were classified as shorter or longer returns,depending on whether RTP occurred within 7 days(allowing them to be considered to play the match 1 week after injury)or longer than 8 days,***,cognitive,and balance performance during screens was assessed relative to baseline(normal or abnormal)and to the preceding screen(improving or worsening).Associations between sub-test abnormalities and RTP time were explored using odds ratios(OR,longer ***).Median day absence was compared between players with abnormal or worsening results and those whose results were normal or ***:Abnormal symptom results during screens 2 h and 48 h after concussion were associated with longer return time(HIA2:OR=2.21,95%confidence interval(95%CI):1.39-3.50;HIA3:OR=3.30,95%CI:1.89-5.75).Worsening symptom number or severity from the time of injury to 2 h and 48 h post-injury was associated with longer return(HIA2:OR=2.49,95%CI:1.36-4.58;HIA3:OR=3.34,95%CI:1.10-10.15).Median days absence was greater in players with abnormal symptom results at both HIA2 and *** and balance performance were not associated with longer return and did not affect median days ***:Symptom presentation and evolution within 48 h of concussion were associated with longer RTP *** may guide a more conservative approach to RTP,while still adhering to individualized concussion management principles.

关键词： Brain injury Concussion management General return to play Medical management

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Biofabrication of nanocomposite-based scaffolds containing human bone extracellularmatrix for the differentiation of skeletal stem and progenitor cells

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Bio-design and Manufacturing 2024年第2期7卷 121-136页

作者： Yang-Hee Kim Janos M.Kanczler Stuart Lanham Andrew Rawlings Marta Roldo Gianluca Tozzi Jonathan I.dawson Gianluca Cidonio richard O.C.Oreffo Faculty of Medicine Bone and Joint Research GroupCentre for Human DevelopmentStem Cells and RegenerationInstitute of Developmental SciencesUniversity of SouthamptonSouthampton SO166YDUK School of Pharmacy and Biomedical Science University of PortsmouthPortsmouth PO12DTUK School of Engineering Faculty of Engineering and ScienceUniversity of GreenwichGreenwich ME44TBUK Center for Life Nano-and Neuro-Science(CLN2S) Italian Institute of Technology00161 RomeItaly

Autograft or metal implants are routinely used in skeletal ***,they fail to provide long-term clinical resolution,necessitating a functional biomimetic tissue engineering *** use of native human bone tissue for synthesizing a biomimeticmaterial inkfor three-dimensional(3d)bioprintingof skeletal tissueis anattractivestrategyfor ***,human bone extracellular matrix(bone-ECM)offers an exciting potential for the development of an appropriate microenvironment for human bone marrow stromal cells(HBMSCs)to proliferate and differentiate along the osteogenic *** this study,we engineered a novel material ink(LAB)by blending human bone-ECM(B)with nanoclay(L,Laponite®)and alginate(A)polymers using extrusion-based *** inclusion of the nanoﬁller and polymeric material increased the rheology,printability,and drug retention properties and,critically,the preservation of HBMSCs viability upon *** composite of human bone-ECM-based 3d constructs containing vascular endothelial growth factor(VEGF)enhanced vascularization after implantation in an ex vivo chick chorioallantoic membrane(CAM)*** inclusion of bone morphogenetic protein-2(BMP-2)with the HBMSCs further enhanced vascularization and mineralization after only seven *** study demonstrates the synergistic combination of nanoclay with biomimetic materials(alginate and bone-ECM)to support the formation of osteogenic tissue both in vitro and ex vivo and offers a promising novel 3d bioprinting approach to personalized skeletal tissue repair.

关键词： Extracellular matrix Nanoclay Bone 3d bioprinting

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Remote sensing of quality traits in cereal and arable production systems:A review

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The Crop Journal 2024年第1期12卷 45-57页

作者： Zhenhai Li Chengzhi Fan Yu Zhao Xiuliang Jin Raffaele Casa Wenjiang Huang Xiaoyu Song Gerald Blasch Guijun Yang james Taylor Zhenhong Li College of Geodesy and Geomatics Shandong University of Science and TechnologyQingdao 266590ShandongChina Key Laboratory of Quantitative Remote Sensing in Ministry of Agriculture and Rural Affairs Information Technology Research CenterBeijing Academy of Agriculture and Forestry SciencesBeijing 100097China Institute of Crop Sciences Chinese Academy of Agricultural Sciences/Key Laboratory of Crop Physiology and EcologyMinistry of Agriculture and Rural AffairsBeijing 100081China dAFNE Universitàdella TusciaVia San Camillo de Lellis01100 ViterboItaly Key Laboratory of digital Earth Science Aerospace Information Research InstituteChinese Academy of SciencesBeijing 100094China International Maize and Wheat Improvement Center(CIMMYT) PO Box 5689Addis AbabaEthiopia ITAP Univ.MontpellierINRAEInstitut AgroMontpellier 34000France College of Geological Engineering and Geomatics Chang’an UniversityXi’an 710054ShaanxiChina

Cereal is an essential source of calories and protein for the global *** predicting cereal quality before harvest is highly desirable in order to optimise management for farmers,grading harvest and categorised storage for enterprises,future trading prices,and policy *** use of remote sensing data with extensive spatial coverage demonstrates some potential in predicting crop quality *** studies have also proposed models and methods for predicting such traits based on multiplatform remote sensing *** this paper,the key quality traits that are of interest to producers and consumers are *** literature related to grain quality prediction was analyzed in detail,and a review was conducted on remote sensing platforms,commonly used methods,potential gaps,and future trends in crop quality *** review recommends new research directions that go beyond the traditional methods and discusses grain quality retrieval and the associated challenges from the perspective of remote sensing data.

关键词： Remote sensing Quality traits Grain protein Cereal

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