检索结果-南通市图书馆

Complete androgen insensitivity syndrome caused by the c.2678C>t mutation in the androgen receptor gene:A case report

在线全文

学校读者我要写书评

暂无评论

World Journal of Clinical Cases 2021年第35期9卷 11036-11042页

作者： ka-na Wang Qing-Qing Chen Yi-Lin Zhu Chun-Lin Wang Department of Pediatrics The First Affiliated Hospital of Zhejiang University School of MedicineHangzhou 310000Zhejiang ProvinceChina

baCKGRoUND Androgen insensitivity syndrome is an X-linked recessive genetic disease caused by mutations in the androgen receptor gene(AR).However,the underlying molecular mechanisms for the majority of AR variants remain *** this study,we identified a point variant in three patients with complete androgen insensitivity syndrome(CAIS),summarized the correlation analysis,and performed a literature *** SUMmaRY the proband was raised as a *** infancy,she was first referred to hospital with a right inguinal *** revealed the absence of a uterus and ovaries,and a testis-like structure located at the inguinal *** diagnostic workup detected a 46,XY karyotype,and fluorescence in situ hybridization analysis showed the presence of the SRY *** analysis revealed the excised tissue to be *** years later,she was admitted to our hospital with a lack of breast *** pubic hair and breasts were tanner stage *** had normal female external *** hormone tests showed normal testosterone levels,low estradiol levels,and high gonadotropin *** two siblings underwent similar examinations,and all three had a rare hemizygous missense mutation in AR:c.2678C>*** vitro functional analyses revealed decreased nuclear translocation in AR-c.2678C>t mutation *** this case of CAIS was caused by an AR variant(c.2678C>t).Functional studies showed impaired nuclear translocation ability of the mutant protein.

关键词： Androgen insensitivity syndrome 46 XY disorders of sex development Variants Androgen receptor gene Ligand-binding domain Case report

NHE7 upregulation potentiates the uptake of small extracellular vesicles by enhancing maturation of macropinosomes in hepatocellular carcinoma

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Cancer Communications 2024年第2期44卷 251-272页

作者： Yue Yao Yi Xu Liang Yu ting-mao Xue Zhi-Jie Xiao Pui-Chi tin Hiu-Ling Fung Hoi-tang ma Jing-Ping Yun Judy Wai Ping Yam Department of Pathology School of Clinical MedicineLi Ka Shing Faculty of MedicineThe University of Hong KongHong KongP.R.China Department of Endocrinology and Metabolism Second Affiliated Hospital of Harbin Medical UniversityHarbinHeilongjingP.R.China Department of Hepatopancreatobiliary Surgery Second Affiliated Hospital of Harbin Medical UniversityHarbinHeilongjingP.R.China State Key Laboratory of oncology in South China Cancer Center of Sun Yat-sen UniversityGuangzhouGuangdongP.R.China Department of Hepatobiliary Surgery II Zhujiang HospitalSouthern Medical UniversityGuangzhouGuangdongP.R.China Scientific Research Center The Seventh Affiliated HospitalSun Yat-sen UniversityShenzhenGuangdongP.R.China State Key Laboratory of Liver Research The University of Hong KongHong KongP.R.China Department of Pathology Cancer Center of Sun Yat-sen UniversityGuangzhouGuangdongP.R.China

background:Small extracellular vesicles(sEVs)mediate intercellular commu-nication that contributes to hepatocellular carcinoma(HCC)progression via multifaceted *** success of cell entry determines the effect of sEV on recipient ***,we aimed to delineate the mechanisms underlying the uptake of sEV in ***:AF,Alexa Fluor;ANoVA,analysis of variance;AtP9A,AtPase Phospholipid transporting 9A;BCECF-AM,2’,7’-bis-(2-barboxyethyl)-5-(and-6)-carboxyfluorescein,acetoxymethyl ester;BSA,bovine serum albumin;CCMR,Centre for Comparative Medicine Research;CRISPR,clustered regularly interspaced short palindromic repeats;CtL,ctrl;CXCR4,C-X-C Chemokine Receptor type 4;DAPI,4′,6-diamidino-2-phenylindole;DFS,disease-free survival;DMEM,Dulbecco’s Modified Eagle Medium;DMSo,dimethyl sulfoxide;Dox,doxycycline;EEA1,early endosome antigen 1;EIPA,5-(N-ethyl-N-isopropyl)-amiloride;FBS,fetal bovine serum;FItC,fluorescein isothiocyanate;GAPDH,glyceraldehyde-3-phosphate dehydrogenase;GM130,Golgi matrix protein 130;HCC,hepatocellular carcinoma;HEPES,4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid;HPRt1,hypoxanthine phosphoribosyltransferase 1;H-score,histoscore;IAA,indole-3-acetic acid;KD,knockdown;Ko,knockout;maID,mini-auxin-inducible degron;Mtt,3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide;NHE7,na(+)/H(+)exchanger 7;ns,non-significant;oD,optical density;oS,overall survival;PBS,phosphate-buffered saline;PCR,polymerase chain reaction;pHe,endosomal pH;pHi,intracellular pH;PKH67,Paul karl Horan 67;Rab21,Ras-associated binding protein 21;RIPA,radioimmunoprecipitation assay;SAM,synergistic activation mediator;SEMs,standard error of the means;sEVs,small extracellular vesicles;sgRna,single-guide Rna;shRna,short-hairpin Rna;SLC9,solute carrier gene 9;SLiCE,Seamless Ligation Cloning Extract;tCGA,the Cancer Genome Atlas;tCL,total cell lysates;tGN,trans-Golgi network;tma,tissue microarray;tMR,tetramethyl rhodamine;tSG101,tumor susceptibility gene *** Yao an

关键词： hepatocellular carcinoma small extracellular vesicles macropinocytosis pH regulation sodium-hydrogen exchanger

Advantageous mechanochemical synthesis of copper(Ⅰ)selenide semiconductor,characterization,and properties

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Frontiers of Chemical Science and Engineering 2022年第3期16卷 433-442页

作者： katarína Gáborová marcela Achimovičová Michal Hegedüs Vladimír Girman Mária kaňuchová Erika Dutková Institute of Geotechnics Slovak Academy of SciencesKošice04001Slovakia Institute of Metallurgy Faculty of MaterialsMetallurgy and RecyclingTechnical UniversityKošice04201Slovakia Synthon s.r.o.Blansko67801Czech Republic Faculty of Science Pavol JozefŠafárik UniversityKošice04154Slovakia Institute of Earth Resources Faculty of MiningEcologyProcess Control and GeotechnologiesTechnical UniversityKošice04200Slovakia

Copper(I)selenide-nanocrystalline semiconductor was synthesized via one-step mechanochemical synthesis after 5 min milling in a planetary ball *** kinetics of synthesis was followed by X-ray powder diffraction analysis and specific surface area measurements of milled 2Cu/Se *** X-ray diffraction confirmed the orthorhombic crystal structure of Cu_(2)Se with the crystallite size∼25 *** surface chemical structure was studied by X-ray photoelectron spectroscopy,whereby the binding energy of the Cu 2p and Se 3d signals corresponded to Cu^(+)and Se^(2−)oxidation *** electron microscopy revealed agglomerated nanocrystals and confirmed their orthorhombic structure,as *** optical properties were studied utilizing ultraviolet-visible spectroscopy and photoluminescence *** direct bandgap energy 3.7 eV indicated a blue-shift phenomenon due to the quantum size *** type of Cu_(2)Se synthesis can be easily adapted to production dimensions using an industrial vibratory *** advantages of mechanochemical synthesis represent the potential for inexpensive,environmentally-friendly,and waste-free manufacturing of Cu_(2)Se.

关键词： Cu_(2)Se berzelianite nanocrystalline semiconductor mechanochemical synthesis planetary ball mill

基于ka波段的海事卫星Global Xpress系统

在线全文

学校读者我要写书评

暂无评论

数字通信世界 2024年第6期 78-80页

作者：赵娜中国交通通信信息中心北京100011

文章主要介绍了基于ka波段的海事卫星Global Xpress系统的技术特点,着重与传统Vsat业务进行了对比,简单介绍了GX的海事业务。

关键词：第五代海事卫星国际移动卫星公司 Global Xpress 技术特点 Vsat

苯丁酸甘油酯治疗儿童鸟氨酸氨甲酰基转移酶缺乏症1例

同方期刊数据库博看期刊评论

在线全文

学校读者我要写书评

暂无评论

中国当代儿科杂志 2024年第5期26卷 512-517页

作者：杨帆王立瑞李辛胡佳悦应令雯冯碧云李芸芸林卡娜佘佳笑李浩常国营王秀敏上海交通大学医学院附属上海儿童医学中心临床研究病区上海200127 上海交通大学医学院附属上海儿童医学中心内分泌遗传代谢科上海200127 云南省德宏州陇川县人民医院儿科云南德宏678700

苯丁酸甘油酯(glyceryl phenylbutyrate,GPB)是治疗鸟氨酸氨甲酰基转移酶缺乏症(ornithine transcarbamylase deficiency,otCD)的长期管理药物,可有效控制高氨血症,但国内使用该药的经验匮乏。该文回顾性分析上海交通大学医学院附属上... 详细信息

苯丁酸甘油酯(glyceryl phenylbutyrate,GPB)是治疗鸟氨酸氨甲酰基转移酶缺乏症(ornithine transcarbamylase deficiency,otCD)的长期管理药物,可有效控制高氨血症,但国内使用该药的经验匮乏。该文回顾性分析上海交通大学医学院附属上海儿童医学中心1例诊断为otCD的患儿资料,并进行相关文献复习。该患儿确诊后使用GPB治疗,随后进行疗效随访和药学监测。患儿,男,6岁6个月,语言发育差,不听指令,脾气暴躁并伴有攻击性行为。监测血氨最高327μmol/L;尿有机酸分析提示尿嘧啶水平升高;头颅磁共振成像示双侧大脑半球广泛异常信号;基因检测发现otC基因新生突变(c.241t>C,p.S81P)。予以GPB治疗后1、2、3个月左右的血氨分别为43、80、56μmol/L。患儿治疗期间血氨控制良好,未见与药物相关的不良反应,发育落后情况较前改善,可听指令,脾气好转,无攻击性行为。

关键词：苯丁酸甘油酯鸟氨酸氨甲酰基转移酶缺乏症尿素循环障碍高氨血症药学监测儿童

Pareto排序遗传算法及响应面优化在纯电车电池壳体参数设计的工程应用

在线全文

学校读者我要写书评

暂无评论

机械科学与技术 2024年第5期43卷 819-831页

作者：高媛媛刘娜刘鹏王成诺山东建筑大学机电工程学院济南250101 运输车辆检测、诊断与维修技术交通行业重点实验室济南250300

为解决三元锂电池壳厚重与应力集中的问题。本文利用拉丁超立方法对变密度拓扑优化后参数抽样,利用了Pareto排序多目标遗传算法,选择应力等作为目标函数进行迭代计算。本文利用克里格空间插值法得到各响应图谱以及初步预测的优化方案。... 详细信息

为解决三元锂电池壳厚重与应力集中的问题。本文利用拉丁超立方法对变密度拓扑优化后参数抽样,利用了Pareto排序多目标遗传算法,选择应力等作为目标函数进行迭代计算。本文利用克里格空间插值法得到各响应图谱以及初步预测的优化方案。基于上述结果利用Design-Expert建立了62组响应面数学模型,计算所得帕累托最优为70%,p-value≤0.0001,证明响应面模型的准确性,经仿真计算优化后的结构较原模型各方面性能都有所提升,具有较好的可靠性。

关键词：纯电动汽车多目标遗传算法响应面优化

naturally occurring spike mutations influence the infectivity and immunogenicity of SARS-CoV-2

在线全文

学校读者我要写书评

暂无评论

Cellular & Molecular Immunology 2022年第11期19卷 1302-1310页

作者： Qiaoli Peng Runhong Zhou na Liu Hui Wang Haoran Xu Meiqing Zhao Dawei Yang ka-Kit Au Haode Huang Li Liu Zhiwei Chen AIDS Institute Li Ka Shing Faculty of MedicineThe University of Hong KongHong Kong Special Administrative RegionPR China national Clinical Research Center for Infectious Diseases HKU AIDS Institute Shenzhen Research LaboratoryThe Third People’s Hospital of Shenzhen and The Second Affiliated Hospital of Southern University of Science and TechnologyShenzhenGuangdongPR China Department of Microbiology Li Ka Shing Faculty of MedicineThe University of Hong KongHong Kong Special Administrative RegionPR China Centre for Virology Vaccinology and Therapeutics LimitedThe University of Hong KongHong Kong Special Administrative RegionPR China HKU AIDS Institute Joint Laboratory Department of Clinical Microbiology and Infection ControlThe University of Hong Kong-Shenzhen HospitalShenzhenGuangdongPR China State Key Laboratory of Emerging Infectious Disease The University of Hong KongHong Kong Special Administrative RegionPR China

Mutations in SARS-CoV-2 variants of concern(VoCs)have enhanced transmissibility and immune evasion with respect to current vaccines and neutralizing antibodies(nabs).How naturally occurring spike mutations affect the infectivity and antigenicity of VoCs remains to be *** entry efficiency of individual spike mutations was determined in vitro using pseudotyped ***/c mice were immunized with 2-dose Dna vaccines encoding B.1.1.7,B.1.351,B.1.1.529 and their single *** and humoral immune responses were then compared to determine the impact of individual mutations on *** the B.1.1.7 lineage,Del69–70 and Del 144 in NtD,A570D and P681H in SD1 and S982A and D1118H in S2 significantly increased viral entry,whereas t716I resulted in a *** the B.1.351 lineage,L18F and Del 242–244 in the NtD,K417N in the RBD and A701V in S2 also increased viral entry.S982A weakened the generation of binding *** sera showed reduced cross-neutralization activity against B.1.351,B.1.617.2(Delta)and B.1.1.529(omicron ba.1).S982A,L18F,and Del 242–244 hindered the induction of cross-nabs,whereas Del 69–70,Del144,R246I,and K417N showed the opposite effects.B.1.351 elicited adequate broad cross-nabs against both B.1.351 and *** immunogens tested,however,showed low neutralization against circulating *** addition,t-cell responses were unlikely affected by mutations tested in the *** conclude that individual spike mutations influence viral infectivity and vaccine *** VoC-targeted vaccines is likely necessary to overcome immune evasion from current vaccines and neutralizing antibodies.

关键词： SARS-CoV-2 Variants of Concern Single mutation neutralizing antibody t cell responses vaccine immunogenicity

SYNtHESIS AND PRoPERtIES oF BIFUNCtIonaL maGNEtIC-oPtICAL naNomatERIALS:Fe_2o_3@PDmaEma-CAPPED Ⅱ－Ⅵ SEMICoNDUCtoR QUANtUM DotS naNoCoMPoSItES

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Chinese Journal of Polymer Science 2013年第9期31卷 1233-1241页

作者： na-na Zhao Wei Nie Jun mao Wei-cai Wang Xiang-ling Ji State Key Laboratory of Polymer Physics and Chemistry Changchun Institute of Applied Chemistry Chinese Academy of Sciences

A facile route to synthesize a new type of multifunctional nanocomposites is reported. Here, PDmaEma （poly[2- （dimethylamino）ethyl] methacrylate） is a key macromolecule serving as a bridge between magnetic Feao3 nanoparticles and luminescent quantum dots. Both Fe203 nanoparticles and II-VI semiconductor quantum dots with a narrow size distribution are synthesized through a two-phase thermal approach. Subsequently, the atom transfer radical polymerization （AtRP） technique was applied to prepare magnetic Fe203@PDmaEma core-shell nanoparticles. the thickness of PDmaEma shell can be easily controlled by adjusting the reaction time. Finally, the ligand exchange method was exploited to modify II-VI quantum dot with amine-containing polymer of PDmaEma, which led to quantum dot securely bound by Fe203@PDmaEma core-shell nanoparticle to form a multifunctional nanocomposite. the resulting nanocomposite remains variable emission by tuning the II-VI semiconductor type and particle size and shows/arc at 49 ka/m and tb at 16 K from Fe2o3 nanoparticles. the self-assembled behavior for the resulting samples is also discussed.

关键词： Bifunctional nanocomposite magnetic-optical PDmaEma Semiconductor AtRP two-phase method.

Identification of differential gene expressions in colorectal cancer and polyp by cDna microarray

在线全文

学校读者我要写书评

暂无评论

World Journal of Gastroenterology 2012年第6期18卷 570-575页

作者： Yi-Chen Dai Xiao-San Zhu Qing-Zhen nan Zhang-Xin Chen Jun-Pei Xie Yu-ka Fu Yuan-Yuan Lin Qing-na Lian Qiao-Fang Sang Xiao-Juan Zhan Department of Gastroenterology Chenggong HospitalXiamen UniversityXiamen 361003Fujian ProvinceChina Department of Gastroenterology The 174th Hospital of the Chinese PLAWenyuan RoadXiamen 361003Fujian ProvinceChina Department of Gastroenterology Nanfang HospitalSouthern Medical UniversityGuangzhou 510515Guangdong ProvinceChina

AIM： to screen the differential expressed genes in colorectal cancer and polyp tissue samples. MEtHoDS： tissue specimens containing 16 cases of colorectal adenocarcinoma and colorectal polyp vs nor- mal mucosae were collected and subjected to cDna microarray and bioinformatical analyses. Quantitative reverse transcription-polymerase chain reaction （qRt- PCR） was used to confirm some of the cDna microarray ***： the experimental data showed that eight genes were differentially expressed, most of which were upregulated in adenomatous polyp lesions. Forty-six genes expressions were altered in colorectal cancers, of which 29 were upregulated and 17 downregulated, as compared to the normal mucosae. In addition, 18 genes were similarly altered in both adenomatous polyps and colorectal cancer, qRt-PCR analyses confirmed the cDna microarray data for four of those 18 genes： MtA1, PDCD4, tSC1 and PDGFRA. CoNCLUSIoN： these differentially expressed genes likely represent biomarkers for early detection of co- Iorectal cancer and may be potential therapeutic targets after confirmed by further studies.

关键词： Colorectal polyp Colorectal cancer cDna mi-croarray Quantitative reverse transcription-polymerasechain reaction