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Radiation Detection Technology and Methods 2024年第1期8卷 I0003-I0016,1-1091页

作者： Waleed Abdallah Tiago Carlos Adorno de Freitas Konstantin Afanaciev Shakeel Ahmad Ijaz Ahmed xiaocong Ai Abid Aleem Wolfgang Altmannshofer Fabio Alves Weiming An Rui An Daniele Paolo Anderle Stefan Antusch Yasuo Arai Andrej Arbuzov Abdesslam Arhrib Mustafa Ashry Sha Bai Yu Bai yang Bai Vipul Bairathi Csaba Balazs Philip Bambade Yong Ban Tripamo Bandyopadhyay Shou-Shan bao Desmond P.Barber Ayse Bat Varvara Batozskaya Subash Chandra Behera Alexander Belyaev Michele Bertucci xiao-Jun Bi yuanjie Bi Tianjian Bian Fabrizio Bianchi Thomas Biekotter Michela Biglietti Shalva Bilanishvili Deng Binglin Denis Bodrov Anton Bogomyagkov Serge Bondarenko Stewart Boogert maarten Boonekamp marcello Borri Angelo Bosotti Vincent Boudry Mohammed Boukidi Igor Boyko Ivanka Bozovic Giuseppe Bozzi Jean-Claude Brient Anastasiia Budzinskaya masroor Bukhari Vladimir Bytev Giacomo Cacciapaglia Hua Cai wenyong Cai Wujun Cai Yijian Cai Yizhou Cai Yuchen Cai Haiying Cai Huacheng Cai Lorenzo Calibbi Junsong Cang guofu Cao jianshe Cao Antoine Chance Xuejun Chang Yue Chang Zhe Chang Xinyuan Chang Wei Chao Auttakit Chatrabhuti Yimin Che Yuzhi Che Bin Chen Danping Chen Fuqing Chen Fusan Chen Gang Chen guoming Chen Hua-Xing Chen Huirun Chen Jinhui Chen Ji-yuan Chen Kai Chen mali Chen mingjun Chen mingshui Chen Ning Chen Shanhong Chen Shanzhen Chen Shao-Long Chen Shaomin Chen Shiqiang Chen Tianlu Chen Wei Chen Xiang Chen xiaoyu Chen Xin Chen Xun Chen Xurong Chen Ye Chen Ying Chen Yukai Chen Zelin Chen Zilin Chen Gang Chen Boping Chen Chunhui Chen Hok Chuen Cheng Huajie Cheng Shan Cheng Tongguang Cheng Yunlong Chi Pietro Chimenti wen Han Chiu Guk Cho ming-Chung Chu xiaotong Chu Ziliang Chu Guglielmo Coloretti Andreas Crivellin Hanhua Cui xiaohao Cui Zhaoyuan Cui Brunella D'Anzi Ling-Yun Dai Xinchen Dai Xuwen Dai Antonio De maria Nicola De Filippis Christophe De La Taille Francesca De Mori Chiara De Sio Elisa Del Core Shuangxue Deng Wei-Tian Deng Zhi Deng Ziyan Deng Bhupal Dev Tang Dewen Biagio Di Micco Ran Ding Siqin Dingl Yadong Ding Haiyi dong jianin AGH University of Science and Technology Faculty of Physics and Applied Computer ScienceKrakow Anhui University HefeiAnhui Applied Physics Department Federal Urdu University of ArtsScience and TechnologyIslamabad Banaras Hindu University Institute of ScienceVaranasi Bandirma Onyedi Eylul University Bandirma Beihang University Beijing Beijing Computational Science Research Center Beijing Beijing Conveyi LTD Beijing Beijing Glass Research Institute Co. LtdBeijing Beijing Institute of Technology Beijing Beijing Normal University Beijing Brown University ProvidenceRI Budker Institute of Nuclear Physics Novosibirsk Cadi Ayyad University Laboratory of Fundamental and Applied PhysicsPolydisciplinary FacultyMarrakech Cairo University Giza Center for Theory and Computation National Tsing Hua UniversityHsinchu Central China Normal University WuhanHubei Central South University ChangshaHunan Centro de Fisica Teorica de Particulas Universidade Tecnica de LisboaLisboa Chengdu KaitengSifang Digital Radio&TV Equipment Co. LtdChengduSichuan China academy of engineering physics MianyangSichuan China building materials academy Beijing China Center of Advanced Science and Technology Beijing China Institute of Atomic Energy Beijing China Jiliang University HangzhouZhejiang China Nuclear Instrument CO. LTDBeijing China University of Geosciences Beijing China University of Geosciences WuhanHubei China University of Mining and Technology XuzhouJiangsu China West Normal University NanchongSichuan Chongqing University Department of PhysicsChongqing Chulalongkorn University Bangkok City University of Hong Kong Department of PhysicsHong Kong Cockcroft Institute Daresbury Cornell University IthacaNY CPPM(AMU/IPhU&CNRS/INP) Marseille Dalian Minzu University DalianLiaoning Dalian University of Technology Department of PhysicsDalian Deutsches Elektronen-Synchrotron DESY Hamburg Dzhelepov Laboratory of Nuclear Problems of Joint Institute for Nuclear Research(DLNP JINR) Dubna East China University Of Science And Technol

The Circular Electron Positron Collider(CEPC)is a large scientific project initiated and hosted by China,fostered through extensive collaboration with international *** complex comprises four accelerators:a 30 GeV Linac,a 1.1 GeV Damping Ring,a Booster capable of achieving energies up to 180 GeV,and a Collider operating at varying energy modes(Z,W,H,and tt).The Linac and Damping Ring are situated on the surface,while the subterranean Booster and Collider are housed in a 100 km circumference underground tunnel,strategically accommodating future expansion with provisions for a potential Super Proton Proton Collider(SPPC).The CEPC primarily serves as a Higgs *** its baseline design with synchrotron radiation(SR)power of 30 MW per beam,it can achieve a luminosity of 5×10^(34)cm^(-2)s^(-1)per interaction point(IP),resulting in an integrated luminosity of 13 ab^(-1)for two IPs over a decade,producing 2.6 million Higgs *** the SR power to 50 MW per beam expands the CEPC's capability to generate 4.3 million Higgs bosons,facilitating precise measurements of Higgs coupling at sub-percent levels,exceeding the precision expected from the HL-LHC by an order of *** Technical Design Report(TDR)follows the Preliminary Conceptual Design Report(Pre-CDR,2015)and the Conceptual Design Report(CDR,2018),comprehensively detailing the machine's layout,performance metrics,physical design and analysis,technical systems design,R&D and prototyping efforts,and associated civil engineering ***,it includes a cost estimate and a preliminary construction timeline,establishing a framework for forthcoming engineering design phase and site selection *** is anticipated to begin around 2027-2028,pending government approval,with an estimated duration of 8 *** commencement of experiments and data collection could potentially be initiated in the mid-2030s.

关键词： initiated exceeding precise

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Understanding the metabolism of Mycoplasma mycoides subsp. capri in vitro by a transcriptomic analysis

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Journal of Integrative Agriculture 2018年第2期17卷 428-435页

作者： wang xiao-hui wang yan-fang HUANG Hai-bi BAI Fan SHI xiao-na ma Chang-jiao gao yuan ZHANG jian-hua ZHANG wen-guang HAO Yong-qing Key Laboratory of Microbiology & Immunology College of Veterinary Medicine Inner Mongolia Agricultural University Foundation Medicine College Baotou Medical School Key Laboratory of Animal Genetics and Genomics Inner Mongolia Agricultural University

It is generally known that the culture for mycoplasma is time-consuming and a variety of nutrients are needed in the culture medium. This brings a lot of difficulties to mycoplasma research and application, including Mycoplasma mycoides subsp. capri（Mmc）. Furthermore, little research on the characteristics of Mmc metabolism has been reported. In this study, Mmc PG3 strain cultures were investigated for dynamic gene expression. Culture samples were harvested during logarithmic phase（PG3-1）, stationary phase（PG3-2）, decline phase（PG3-3） and late decline phase（PG3-4）. Twelve RNA samples（three replicates for each of the four growth stages considered） from these cultures were collected and sequenced. Paired comparison between consecutive growth phases in the four growth stages showed 45 significant differentially expressed genes（P〈0.01） were linked to PG3 metabolism. The enzymes these genes coded were mainly involved in ATP synthase, pyrimidine metabolism, nicotinate and nicotinamide metabolism, arginine and proline metabolism. Among these, cytidylate kinase, fructose 1,6-bisphosphate aldolases Class II, nicotinate-nucleotide adenylyltransferase and dihydrolipoamide dehydrogenase play a key role in Mmc metabolism. These results provide a baseline to build our understanding of the metabolic pathway of Mmc.

关键词： metabolism Mycoplasma mycoides subsp.capri transcriptomic

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Platelet RNA signature independently predicts ovarian cancer prognosis by deep learning neural network model

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蛋白质与细胞:英文版 2023年第8期14卷 618-622页

作者： Chun-Jie Liu Hua-Yi Li Yue gao Gui-yan Xie jian-Hua Chi Gui-Ling Li Shao-Qing Zeng xiao-ming Xiong jia-Hao Liu Lin-Li Shi Xiong Li xiao-dong Cheng Kun Song Ding ma An-yuan guo Qing-Lei gao Department of Gynecological Oncology Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China National Clinical Research Center for Obstetrics and Gynecology Cancer Biology Research Center(Key Laboratory of the Ministry of Education)Tongji HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Center for Artificial Intelligence Biology Hubei Bioinformatics&Molecular Imaging Key LaboratoryKey Laboratory of Molecular Biophysics of the Ministry of EducationCollege of Life Science and TechnologyHuazhong University of Science and TechnologyWuhan 430074China Cancer Center Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Department of Gynecology and Obstetrics The Central Hospital of WuhanTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430030China Department of Gynecological Oncology Women's HospitalSchool of MedicineZhejiang UniversityHangzhou 310011China Gynecological Oncology Key Laboratory Qilu HospitalShandong UniversityJinan 250100China

Dear Editor,Platelets are circulating anucleate cytoplasmic fragments of megakaryocytes and characterized by their functions in wound healing and vascular integrity *** evidence highlights the extensive reciprocal signaling interactions between platelets and tumor cells(Haemmerle et al.,2018).Tumor cells activate and aggregate platelets to sustain proliferation(Cho et al.,2012),resist apoptosis,and promote metastasis(Haemmerle et al.,2017).

关键词： Platelet healing

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Extracorporeal membrane oxygenation for coronavirus disease 2019-associated acute respiratory distress syndrome:Report of two cases and review of the literature

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World Journal of Clinical Cases 2021年第8期9卷 1953-1967页

作者： Jun-Lin wen Qi-Zhe Sun Zhou Cheng xiao-Zu Liao Li-Qiang wang Yong yuan jian-Wei Li Liu-ShengHou wen-Jun gao Wei-jia wang Wei-yan Soh Bin-Fei Li Da-Qing ma Department of Anaesthesiology Zhongshan People’s HospitalZhongshan 528403Guangdong ProvinceChina Department of Surgery and Cancer Imperial College LondonLondon SW109NHUnited Kingdom Cardiovascular Centre Zhongshan People's HospitalZhongshan 528403Guangdong ProvinceChina Department of Intensive Medicine Zhongshan People's HospitalZhongshan 528403Guangdong ProvinceChina Department of Hepatology The Second People’s Hospital of ZhongshanZhongshan 528447Guangdong ProvinceChina Laboratory Diagnosis Centre Zhongshan People's HospitalZhongshan 528403Guangdong ProvinceChina Faculty of Medicine Ewcastle University Medicine MalaysiaJohor 79200Malaysia

BACKGROUND Coronavirus disease 2019(COVID-19),caused by severe acute respiratory syndrome coronavirus-2,is a worldwide *** COVID-19 patients develop severe acute respiratory distress syndrome and progress to respiratory *** such cases,extracorporeal membrane oxygenation(ECMO)treatment is a necessary life-saving *** SUMmaRY Two special COVID-19 cases—one full-term pregnant woman and one elderly(72-year-old)man—were treated by veno-venous(VV)-ECMO in the Second People’s Hospital of Zhongshan,Zhongshan City,Guangdong Province,*** patients had developed refractory hypoxemia shortly after hospital admission,despite conventional support,and were therefore managed by *** both experienced multiple ECMO-related complications on top of the COVID-19 disease,their conditions improved *** patients were weaned successfully from the ECMO *** the time of writing of this report,the woman has recovered completely and been discharged from hospital to home;the man remains on mechanical ventilation,due to respiratory muscle weakness and suspected lung *** ECMO itself is associated with various complications,it is very important to understand and treat these complications to achieve optimal *** VV-ECMO can provide sufficient gas exchange for COVID-19 patients with acute respiratory distress ***,it is crucial to understand and treat ECMO-related complications.

关键词： SARS-CoV-2 COVID-19 Coronavirus Acute respiratory distress syndrome Extracorporeal membrane oxygenation Complications Case report

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Controlled synthesis of nanosized Si by magnesiothermic reduction from diatomite as anode material for Li-ion batteries

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International Journal of Minerals,Metallurgy and materials 2020年第4期27卷 515-525页

作者： Li-fen guo Shi-yun Zhang jian Xie dong Zheng yuan Jin Kang-yan wang Da-gao Zhuang wen-quan Zheng Xin-bing Zhao State Key Laboratory of Silicon materials School of Materials Science and EngineeringZhejiang UniversityHangzhou 310027China Key Laboratory of Advanced materials and Applications for Batteries of Zhejiang Province Hangzhou 310027China Hangzhou Branch Zhejiang Zotye Automobile Corporation LimitedHangzhou 310018China Shanghai Han Xing Science and Technology Co. Ltd.Shanghai 201322China

Li-ion batteries(LIBs)have demonstrated great promise in electric vehicles and hybrid electric ***,commercial graphite materials,the current predominant anodes in LIBs,have a low theoretical capacity of only 372 mah·g?1,which cannot meet the everincreasing demand of LIBs for high energy *** Si is considered an ideal form of Si for the fabrication of LIB anodes as Si–C *** of nanoscale Si in a facile,cost-effective way,however,still poses a great *** this work,nanoscale Si was prepared by a controlled magnesiothermic reaction using diatomite as the Si *** was found that the nanoscale Si prepared under optimized conditions(800°C,10 h)can deliver a high initial specific capacity(3053 mah·g?1 on discharge,2519 mah·g?1 on charge)with a high first coulombic efficiency(82.5%).When using sand-milled diatomite as a precursor,the obtained nanoscale Si exhibited a well-dispersed morphology and had a higher first coulombic efficiency(85.6%).The Si–C(Si:graphite=1:7 in weight)composite using Si from the sand-milled diatomite demonstrated a high specific capacity(over 700 mah·g?1 at 100 ma·g?1),good rate capability(587 mah·g?1 at 500 ma·g?1),and a long cycle life(480 mah·g?1 after 200 cycles at 500 ma·g?1).This work gives a facile method to synthesize nanoscale Si with both high capacity and high first coulombic efficiency.

关键词： silicon anode magnesiothermic reduction diatomite Li-ion batteries

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Oral berberine improves brain dopa/dopamine levels to ameliorate Parkinson’s disease by regulating gut microbiota

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Signal Transduction and Targeted Therapy 2021年第3期6卷 1001-1020页

作者： yan wang Qian Tong Shu-Rong ma Zhen-Xiong Zhao Li-Bin Pan Lin Cong Pei Han Ran Peng Hang Yu yuan Lin Tian-Le gao jia-wen Shou xiao-yang Li Xian-Feng Zhang Zheng-Wei Zhang Jie Fu bao-Ying wen Jin-Bo Yu Xuetao Cao jian-dong jiang State Key Laboratory of Bioactive Substance and Function of Natural Medicines Institute of Materia MedicaChinese Academy of Medical Sciences/Peking Union Medical CollegeBeijing 100050China The First Hospital of Jilin University Changchun 130021China Department of Immunology&Centre for Immunotherapy Institute of Basic Medical SciencesPeking Union Medical CollegeChinese Academy of Medical SciencesBeijing 100730China

The phenylalanine-tyrosine-dopa-dopamine pathway provides dopamine to the *** this process,tyrosine hydroxylase(TH)isthe rate-limiting enzyme that hydroxylates tyrosine and generates levodopa(L-dopa)with tetranydrobiopterin(BH_(4))as a ***,we show that oral berberine(BBR)might supply H^(·) through dihydroberberine(reduced BBR produced by bacterial nitroreductase)and promote the production of BHl from dihydrobiopterin;the increased BH,enhances TH activity,which accelerates the production of L-dopa by the gut *** BBR acts in a way similar to *** L-dopa produced by theintestinal bacteria enters the brain through the circulation and is transformed to *** verify the gut-brain dialog activatedby BBR's effect,Enterococcus foecalis or Enterococcus faecium was transplanted into Parkinson's disease(PD)*** bacteriasignificantly increased brain dopamine and ameliorated PD manifestation in mice;additionally,combination of BBR with bacteriashowed better therapeutic effect than that with bacteria ***,2,4,6-trimethy-pyranylium tetrafluoroborate(TMP-TFB)-derivatized matrix-assisted laser desorption mass spectrometry(maLDI-MS)imaging of dopamine identihed elevated striataldopamine levels in mouse brains with oral Enterococcus,and BBR strengthened the imaging intensity of brain *** demonstrated that BBR was an agonist of TH in Enterococcus and could lead to the production of L-dopa in the ***,a study of 28 patients with hyperlipidemia conhrmed that oral BBR increased bloodfecal L-dopa by the ***,BBR might improve the brain function by upregulating the biosynthesis of-dopa in the gut microbiota through avitamin-like effect.

关键词： dopamine berberine vitamin

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A coordination compound featuring a supramolecular hydrogen-bonding network for proton conduction

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Chinese Chemical Letters 2018年第2期29卷 336-338页

作者： wen-He wang Qiang gao Ai-Lin Li yan-yuan jia Shi-Yu Zhang jian-Hong wang Ying-Hui Zhang Xian-He Bu Department of Chemistry Collaborative Innovation Center of Chemical Science and Engineering Tianjin Nankai University School of materials Science and Engineering TKL of Metal-and Molecule-Based Material Chemistry Nankai University

A new coordination compound [Mg（L）（H2 O）5·H2 O]（NKU-109, H2 L=5-（4 H-1,2,4-triazol-4-yl）benzene-1,3-dicarboxylic acid） was solvothermally synthesized, featuring a supramolecular hydrogen-bonding network. A good proton conductivity of 5.87×10^-4S/cm was recorded at 70℃ and a relative humidity of75% in alternating current（AC） impedance experiment, which sheds a new light on the design of proton conduction materials based on coordination compounds.

关键词： Coordination compound Fuel cell Hydrogen-bonding network Supramolecular Proton conductivity

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我国玉米大斑病菌生理小种及交配型组成分析

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玉米科学 2024年第5期32卷 105-111页

作者：马周杰黄宇飞温胜慧杨俊伟贾鑫赵变平李彦良高增贵王建军山西农业大学玉米研究所/国家植物保护忻州观测实验站山西忻州034000 沈阳农业大学植物保护学院沈阳110866

利用Ht单基因鉴别寄主对2021年采自我国10个省(自治区)57个市县的127株玉米大斑病菌进行生理小种鉴定,采用特异性引物对供试菌株进行交配型检测。生理小种鉴定结果显示,我国玉米大斑病菌主要包括0、1、2、12、3、13、23、N、1N、2N、3N... 详细信息

利用Ht单基因鉴别寄主对2021年采自我国10个省(自治区)57个市县的127株玉米大斑病菌进行生理小种鉴定,采用特异性引物对供试菌株进行交配型检测。生理小种鉴定结果显示,我国玉米大斑病菌主要包括0、1、2、12、3、13、23、N、1N、2N、3N、13N、23N、123N等14个生理小种,其中,0号和1号生理小种分别占供试菌株的34.65%和28.35%,为主要小种类群。我国玉米大斑病菌生理小种存在多元化,东北地区生理分化更为明显。供试菌株对Ht1、Ht2、Ht3、HtN的毒性频率分别为41.73%、9.45%、25.20%、17.32%。交配型检测结果显示,分离株中共有A、a两种交配型,且a交配型比例明显高于A交配型,不同省份玉米大斑病菌交配型组成情况存在差异。

关键词：玉米玉米大斑病菌生理小种毒力分析交配型

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Elaiophylin triggers paraptosis and preferentially kills ovarian cancer drug-resistant cells by inducing maPK hyperactivation

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Signal Transduction and Targeted Therapy 2022年第10期7卷 3925-3939页

作者： Guan-Nan Li Xue-jiao Zhao Zhen wang Meng-Shi Luo Shen-Nan Shi Dan-Mei yan Hua-Yi Li jia-Hao Liu yang yang jia-Hong Tan Ze-Yu Zhang Ru-Qi Chen Hui-Ling Lai xiao-yuan Huang jian-Feng Zhou Ding ma Yong Fang Qing-Lei gao Cancer Biology Research Center(Key Laboratory of the Ministry of Education) Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology430030 WuhanHubeiChina National Clinical Research Center for Obstetrics and Gynecology Department of Gynecological OncologyTongji HospitalTongji Medical CollegeHuazhong University of Science and Technology430030 WuhanHubeiChina Department of Hematology Tongji HospitalTongji Medical CollegeHuazhong University of Science and Technology430030 WuhanHubeiChina Department of Gynecology the Sixth Affiliated HospitalSun Yat-Sen University510000 GuangzhouGuangdongChina

Finely tuned mitogen-activated protein kinase(maPK)signaling is important for cancer cell *** that push cells out of the maPK fitness zone result in cell ***,in a screen of the North China Pharmaceutical Group Corporation’s pure compound library of microbial origin,we identified elaiophylin as an autophagy ***,we demonstrated a new role for elaiophylin in inducing excessive endoplasmic reticulum(ER)stress,ER-derived cytoplasmic vacuolization,and consequent paraptosis by hyperactivating the maPK pathway in multiple cancer ***-wide CRISPR/Cas9 knockout library screening identified SHP2,an upstream intermediary of the maPK pathway,as a critical target in elaiophylin-induced *** cellular thermal shift assay(CETSA)and surface plasmon resonance(SPR)assay further confirmed the direct binding between the SHP2 and *** of the SHP2/SOS1/maPK pathway through SHP2 knockdown or pharmacological inhibitors distinctly attenuated elaiophylin-induced paraptosis and autophagy ***,elaiophylin markedly increased the alreadyelevated maPK levels and preferentially killed drug-resistant cells with enhanced basal maPK *** overcame drug resistance by triggering paraptosis in multiple tumor-bearing mouse models resistant to platinum,taxane,or PARPi,suggesting that elaiophylin might offer a reasonable therapeutic strategy for refractory ovarian cancer.

关键词： cancer activation elevated

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Responsible genes in children with primary vesicoureteral reflux: findings from the Chinese Children Genetic Kidney Disease Database

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World Journal of Pediatrics 2021年第4期17卷 409-418页

作者： jia-Lu Liu Qian Shen ming-yan Wu Guang-Hua Zhu Yu-Feng Li xiao-wen wang xiao-Shan Tang Yun-Li Bi Yi-Nv Gong Jing Chen xiao-yan Fang Yi-Hui Zhai Bing-Bing Wu guo-Min Li Yu Bo Sun xiao-Jie gao Cui-Hua Liu xiao-Yun jiang Sheng Hao Yu-Lin Kang Ying-Liang Gong Li-Ping Rong Di Li Si wang Duan ma jia Rao Hong Xu Chinese Children Genetic Kidney Disease Database(CCGKDD) “Internet Plus”Nephrology Alliance of the National Center for Children’s Care Department of Nephrology Children’s Hospital of Fudan UniversityNational Children’s Medical Center399 Wan Yuan RoadShanghai201102People’s Republic of China Shanghai Kidney Development and Pediatric Kidney Disease Research Center ShanghaiChina Department of Nephrology Shanghai Children’s HospitalShanghaiChina Department of Pediatric Nephrology Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of MedicineShanghaiChina Wuhan Children’s Hospital Tongji Medical CollegeHuazhong University of Science and TechnologyWuhanChina Department of Urology Children’s Hospital of Fudan UniversityNational Children’s Medical CenterShanghaiChina Department of Rheumatology Children’s Hospital of Fudan UniversityNational Children’s Medical CenterShanghaiChina Clinical Genetic Center Children’s Hospital of Fudan UniversityNational Children’s Medical CenterShanghaiChina Department of Nephrology Shenzhen Children’s HospitalShenzhenGuangdongChina Department of Nephrology and Rheumatology Children’s Hospital Affiliated to Zhengzhou UniversityZhengzhou Key Laboratory of Pediatric Kidney Disease ResearchZhengzhouChina The First Affiliated Hospital of Zhongshan University GuangzhouChina Key Laboratory of Metabolism and Molecular Medicine Ministry of EducationDepartment of Biochemistry and Molecular BiologyInstitutes of Biomedical SciencesSchool of Basic Medical SciencesFudan UniversityShanghaiChina 不详

Background Primary vesicoureteral reflux(VUR)is a common congenital anomaly of the kidney and urinary tract(CAKUT)in *** present study identified the possible genetic contributions to primary VUR in *** Patients with primary VUR were enrolled and analysed based on a national multi-center registration network(Chinese Children Genetic Kidney Disease Database,CCGKDD)that covered 23 different provinces/regions in China from 2014 to *** causes were sought using whole-exome sequencing(WES)or targeted-exome *** A total of 379 unrelated patients(male:female 219:160)with primary VUR were ***-four(16.9%)children had extrarenal manifestations,and 165(43.5%)patients showed the coexistence of other CAKUT ***-eight patient(23.2%)exhibited impaired renal function at their last visit,and 18 of them(20.5%)developed ESRD at the median age of 7.0(IQR 0.9–11.4)years.A monogenic cause was identified in 28 patients(7.39%).These genes included PAX2(n=4),TNXB(n=3),GATA3(n=3),SLIT2(n=3),ROBO2(n=2),TBX18(n=2),and the other 11 genes(one gene for each patient).There was a significant difference in the rate of gene mutations between patients with or without extrarenal complications(14.1%vs.6%,P=0.035).The frequency of genetic abnormality was not statistically significant based on the coexistence of another CAKUT(9.6%vs.5.6%,P=0.139,Chi-square test)and the grade of reflux(9.4%vs.6.7%,P=0.429).Kaplan–Meier survival curve showed that the presence of genetic mutations did affect renal survival(Log-rank test,P=0.01).PAX2 mutation carriers(HR 5.1,95%CI 1.3–20.0;P=0.02)and TNXB mutation carriers(HR 20.3,95%CI 2.4–168.7;P=0.01)were associated with increased risk of progression to *** PAX2,TNXB,GATA3 and SLIT2 were the main underlying monogenic causes and accounted for up to 46.4%of monogenic *** complications and renal function were significantly related to the findings of genetic factors in children with p

关键词： Children Congenital anomalies of the kidney and urinary tract Gene mutation Vesicoureteral reflux Whole-exome sequencing

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