检索结果-南通市图书馆

Assessment of pathogenicity and functional characterization of APPL1 gene mutations in diabetic patients

World Journal of Diabetes 2024年第2期15卷 275-286页

作者： ping Shi Yang Tian Feng Xu Lu-Na Liu Wan-Hong Wu Ying-Zhou Shi An-Qi Dai Hang-Yu Fang Kun-xia Li Chao Xu Department of Endocrinology Shandong Provincial Hospital Affiliated to Shandong First Medical UniversityJinan 250021Shandong ProvinceChina Department of Pediatric Yantai Yuhuangding Hospital Affiliated to Qingdao UniversityYantai 264099Shandong ProvinceChina

BACKGROUND Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1(APPL1)plays a crucial role in regulating insulin signaling and glucose metabolism.Mutations in the APPL1 gene have been associated with the development of maturity-onset diabetes of the young type 14(MODY14).Currently,only two mutations[c.1655T>A(p.Leu552*)and c.281G>A p.(Asp94Asn)]have been identified in association with this disease.Given the limited understanding of MODY14,it is imperative to identify additional cases and carry out comprehensive research on MODY14 and APPL1 mutations.AIM To assess the pathogenicity of APPL1 gene mutations in diabetic patients and to characterize the functional role of the APPL1 domain.METHODS Patients exhibiting clinical signs and a medical history suggestive of MODY were screened for the study.Whole exome sequencing was performed on the patients as well as their family members.The pathogenicity of the identified APPL1 variants was predicted on the basis of bioinformatics analysis.In addition,the pathogenicity of the novel APPL1 variant was preliminarily evaluated through in vitro functional experiments.Finally,the impact of these variants on APPL1 protein expression and the insulin pathway were assessed,and the potential mechanism underlying the interaction between the APPL1 protein and the insulin receptor was further explored.RESULTS A total of five novel mutations were identified,including four missense mutations(Asp632Tyr,Arg633His,Arg532Gln,and Ile642Met)and one intronic mutation(1153-16A>T).Pathogenicity prediction analysis revealed that the Arg532Gln was pathogenic across all predictions.The Asp632Tyr and Arg633His variants also had pathogenicity based on MutationTaster.In addition,multiple alignment of amino acid sequences showed that the Arg532Gln,Asp632Tyr,and Arg633His variants were conserved across different species.Moreover,in in vitro functional experiments,both the c.1894G>T(at Asp632Tyr)and c.1595G>A(at Arg532Gln)mutations were found to downregulate the expression of APP

关键词： Adaptor protein,phosphotyrosine interacting with PH domain and leucine zipper 1 Maturity-onset diabetes of the young Bioinformatics analysis Gene mutation Domain

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Multiomics analyses of two Leonurus species illuminate leonurine biosynthesis and its evolution

引用

Molecular Plant 2024年第1期17卷 158-177页

作者： Peng Li Meng-xiao Yan Pan Liu Dan-Jie Yang Ze-Kun He Yun Gao Yan Jiang Yu Kong Xin Zhong Sheng Wu Jun Yang Hong-xia Wang Yan-Bo Huang Le Wang xiao-Ya Chen Yong-Hong Hu Qing Zhao ping Xu shanghai Key Laboratory of Plant Functional Genomics and Resources Shanghai Chenshan Botanical GardenShanghai Chenshan Plant Science Research CenterChineseAcademy of SciencesShanghaiChina College of Life Sciences Shanghai Normal UniversityShanghai 200234China State Key Laboratory of Plant Molecular Genetics CAS Center for Excellence in Molecular Plant SciencesChinese Academy of SciencesShanghaiChina University of the Chinese Academy of Sciences Beijing 100049China The Research Center of Chiral Drugs Innovation Research Institute of Traditional Chinese MedicineShanghai University of Traditional Chinese Medicine1200 Cailun RoadShanghai 201203China College of Chemistry and Chemical Engineering Shanghai University of Engineering ScienceShanghai 201620China

The Lamiaceae family is renowned for its terpenoid-based medicinal components,but Leonurus,which has traditional medicinal uses,stands out for its alkaloid-rich composition.Leonurine,the principal active compound found in Leonurus,has demonstrated promising effects in reducing blood lipids and treating strokes.However,the biosynthetic pathway of leonurine remains largely unexplored.Here,we present the chromosome-level genome sequence assemblies of Leonurus japonicus,known for its high leonurine production,and Leonurus sibiricus,characterized by very limited leonurine production.By integrating genomics,RNA sequencing,metabolomics,and enzyme activity assay data,we constructed the leonurine biosynthesis pathway and identified the arginine decarboxylase(ADC),uridine diphosphate glucosyltransferase(UGT),and serine carboxypeptidase-like(SCPL)acyltransferase enzymes that catalyze key reactions in this pathway.Further analyses revealed that the UGT–SCPL gene cluster evolved by gene duplication in the ancestor of Leonurus and neofunctionalization of SCPL in L.japonicus,which contributed to the accumulation of leonurine specifically in L.japonicus.Collectively,our comprehensive study illuminates leonurine biosynthesis and its evolution in Leonurus.

关键词： Lamiaceae Leonurus japonicus Leonurus sibiricus genome sequence alkaloids leonurine gene cluster biosynthetic pathway evolution

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Diagnosis,treatment and prevention of severe acute respiratory syndrome coronavirus 2 infection in children:experts'consensus statement updatedforthe Omicron variant

引用

World Journal of Pediatrics 2024年第3期20卷 272-286页

作者： Rong-Meng Jiang Zheng-De Xie Yi Jiang xiao-xia Lu Run-Ming Jin Yue-Jie Zheng Yun-xiao Shang Bao-ping Xu Zhi-Sheng Liu Gen Lu Ji-Kui Deng Guang-Hua Liu xiao-Chuan Wang Jian-She Wang Lu-Zhao Feng Wei Liu Yi Zheng Sai-Nan Shu Min Lu Wan-Jun Luo Miao Liu Yu-xia Cui Le-ping Ye A-Dong Shen Gang Liu Li-Wei Gao Li-Juan Xiong Yan Bai Li-Kai Lin Zhuang Wei Feng-xia Xue Tian-You Wang Dong-Chi Zhao Jian-Bo Shao Daniel Kwok-keung Ng Gary Wing-kin Wong Zheng-Yan Zhao Xing-Wang Li Yong-Hong Yang Kun-Ling Shen Diagnosis and Treatment Center of Infectious Diseases Beijing Ditan HospitalCapital Medical UniversityBeijing 100015China Beijing Key Laboratory of Pediatric Respiratory Infection Diseases Key Laboratory of Major Diseases in ChildrenMinistry of EducationNational Clinical Research Center for Respiratory DiseasesResearch Unit of Critical Infection in ChildrenChinese Academy of Medical Sciences2019RU016Laboratory of Infection and VirologyBeijing Pediatric Research InstituteBeijing Children's HospitalCapital Medical UniversityNational Center for Children's HealthBeijing 100045China Department of Pediatrics Renmin Hospital of Wuhan UniversityWuhan 430060China Department of Respiratory Wuhan Children's HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430016China Department of Pediatrics Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Department of Respiratory Shenzhen Children's HospitalShenzhen 518038China Department of Pediatric Respiratory Shengjing Hospital Affiliated to China Medical UniversityShenyang 110004China Department of Respiratory Beijing Children's HospitalCapital Medical UniversityNational Clinical Research Center for Respiratory DiseasesNational Center for Children's HealthBeijing 100045China Department of Neurology Wuhan Children's HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430016China Department of Respiratory Guangzhou Women and Children's Medical CenterGuangzhou 510623China Department of Infectious Diseases Shenzhen Children's HospitalShenzhen 518038China Department of Pediatrics Fujian Branch of Shanghai Children's Medical CenterFujian Children's HospitalFuzhou350005China Department of Clinical Immunology and Allergy Children's Hospital of Fudan UniversityNational Center for Children's HealthShanghai 201102China Department of Infectious Diseases Children's Hospital of Fudan UniversityNational Center for Children's Health.Shanghai

It has been more than 3 years since the novel coronavirus(SARS-CoV-2)pandemic raged globally.The coronavirus disease 2019(COVID-19)has greatly influenced human society.According to data from the World Health Organization(WHO),there were over 656 million confirmed cases of COVID-19 in the world as of January 1,2023,including over 6.6 million deaths[1].

关键词： prevention infection statement

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Protective Effect of Naringenin on Acute Myocardial Ischemia-reperfusion Injury in Rats

引用

Medicinal Plant 2024年第3期15卷 50-52页

作者： xia ZHANG ping ZHOU Juan LI Zhaojun xiaNG Qianqian LUO Qing DENG Department of Neurosurgery Taihe Hospital of Shiyan CityHubei University of MedicineShiyan 442000China Gynecology and Obstetrics Taihe HospitalHubei University of MedicineShiyan 442000China

[Objectives]To investigate the protective mechanism of naringenin on acute myocardial ischemia-reperfusion injury(AMI-RI)in Sprague-Dawley(SD)rats.[Methods]A total of 32 SD rats with AMI-RI model construction were randomly divided into AMI-RI model control group and citrus pigment A/B/C groups(n=8).The naringenin A,B,and C groups were administrated 20,40 and 80 mg/(kg•d)for 10 d.The AMI group served as the negative control and was not treated.At the conclusion of the treatment regimen,a sample of intraventricular blood was collected for the purpose of measuring lactate dehydrogenase(LDH),glutathione peroxidase(GLH-PX),nitric oxide(NO),and superoxide dismutase(SOD)levels.Additionally,myocardial tissue was identified within the ischemic region.The content of malondialdehyde(MDA)was determined by inducing nitric oxide synthase(iNOS)and endodermal nitric oxide synthase(eNOS)positive cells in the left anterior descending coronary artery.[Results]Following citrus treatment,the contents of GLH-PX and SOD in ventricular blood of the citrus B group were found to be significantly elevated,while the contents of NO and LDH in myocardial MDA and ventricle were observed to be significantly reduced.The number of eNOS-positive cells was significantly increased,while the number of iNOS-positive cells was significantly decreased.The difference was statistically significant when compared with the AMI-RI group(P<0.05).The changes observed in the above indicators in the citrus C group were more pronounced than those observed in the citrus B group.The difference between the citrus C and the B group was statistically significant(P<0.05),indicating that this effect is concentration dependent.[Conclusions]In addition to its ability to inhibit myocardial lipid peroxidation during AMI-RI by increasing SOD activity,naringenin may also affect the synthesis and release of NO by regulating eNOS and iNOS,thereby achieving protection against AMI-RI.One effect is enhanced as the dose of the drug increases.

关键词： Rat Naringenin Acute myocardial ischemia-reperfusion Lipid peroxidation Inducible/endothelial nitric oxide synthase

来源：

维普期刊数据库评论

在线全文

维普期刊数据库

学校读者我要写书评

暂无评论

Generation and regulation of electromagnetic pulses generated by femtosecond lasers interacting with multitargets

引用

Nuclear Science and Techniques 2024年第1期35卷 96-107页

作者： Ya-Dong xia De-Feng Kong Qiang-You He Zhen Guo Dong-Jun Zhang Tong Yang Hao Cheng Yu-Ze Li Yang Yan xiao Liang ping Zhu Xing-Long Xie Jian-Qiang Zhu Ting-Shuai Li Chen Lin Wen-Jun Ma Xue-Qing Yan State Key Laboratory of Nuclear Physics and Technology and Key Laboratory of HEDP of the Ministry of EducationCAPTPeking UniversityBeijing 100871China Beijing Laser Acceleration Innovation Center Beijing 101407China Institute of Guangdong Laser Plasma Technology Guangzhou 510540China National Laboratory on High Power Laser and Physics Shanghai Institute of Optics and FineChinese Academy of SciencesShanghai 201800China School of Materials and Energy University of Electronic Science and Technology of ChinaChengdu 611731China

Ultrashort and powerful laser interactions with a target generate intense wideband electromagnetic pulses(EMPs).In this study,we report EMPs generated by the interactions between petawatt(30 fs,1.4×10^(20) W/cm^(2))femtosecond(fs)lasers with metal flat,plastic flat,and plastic nanowire-array(NWA)targets.Detailed analyses are conducted on the EMPs in terms of their spatial distribution,time and frequency domains,radiation energy,and protection.The results indicate that EMPs from metal targets exhibit larger amplitudes at varying angles than those generated by other types of targets and are enhanced significantly for NWA targets.Using a plastic target holder and increasing the laser focal spot can significantly decrease the radiation energy of the EMPs.Moreover,the composite shielding materials indicate an effective shielding effect against EMPs.The simulation results show that the NWA targets exert a collimating effect on thermal electrons,which directly affects the distribution of EMPs.This study provides guidance for regulating EMPs by controlling the laser focal spot,target parameters,and target rod material and is beneficial for electromagnetic-shielding design.

关键词： Electromagnetic pulses Laser plasma interaction Electromagnetic shielding Electron distribution

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

地方教育科研基地建设的创新实践研究

引用

教育理论与实践 2024年第8期44卷 25-28页

作者：贾霞萍武民太原市教研科研中心山西太原030002 太原市第三十七中学校山西太原030001

教育科研基地建设是新时代课程改革背景下提升教育科研质量、推动学校教育改革、落实立德树人根本任务的重要支撑与创新举措。在对教育科研基地的内涵与功能做出清晰界定的基础上构建的“头雁领航”地方教育科研基地建设模式,由“雁头”... 详细信息

教育科研基地建设是新时代课程改革背景下提升教育科研质量、推动学校教育改革、落实立德树人根本任务的重要支撑与创新举措。在对教育科研基地的内涵与功能做出清晰界定的基础上构建的“头雁领航”地方教育科研基地建设模式,由“雁头”(核心理念与建设目标)、“雁心”(基本宗旨)、“雁翼”(创新路径)、“雁尾”(评估体系)有机组成。在教育科研基地建设与实践研究中,创新教育科研管理方式,充分发挥“头雁领航”的作用,带领基地学校以科研助力教育改革与发展,逐步形成了“群雁齐飞”的雁阵效应,产生了一批显性化的教育教学改革成果。

关键词：教育科研基地地方教育科研基地建设头雁领航模式

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

瑞香狼毒贝壳杉烷型二萜类合成酶功能表征

引用

中国中药杂志 2024年第9期49卷 2410-2421页

作者：谭洪虎夏梦苏平黄璐琦南京中医药大学药学院江苏南京210023 中国中医科学院中药资源中心道地药材品质保障与资源持续利用全国重点实验室北京100700

ent-柯巴基焦磷酸合酶(ent-copalyl diphosphate synthase,CPS)与ent-贝壳杉烯合酶(ent-kaurene synthase,KS)的连续催化是植物以香叶基香叶基焦磷酸(geranylgeranyl pyrophosphate,GGPP)为底物开启赤霉素生物合成路径的关键步骤。该研究通过分析与挖掘瑞香狼毒的转录组数据,成功克隆得到赤霉素途径的2个关键二萜合酶基因SchCPS和SchKS。二者完整开放阅读框分别为2595、1701 bp,编码864、566个氨基酸残基,生物信息学分析预测其相对分子质量分别为97.9、64.6 kDa,理论等电点为5.61、6.12,均为亲水性蛋白。序列比对及系统发育树显示,SchCPS蛋白含有CPS基因家族保守的LHS、PNV及DxDD基序,归类于TPS-c亚家族;SchKS蛋白含有KS基因家族保守的DDxxD、NSE/DTE和PIx基序,归类于TPS-e亚家族。功能验证结果表明,SchCPS可催化GGPP质子化并环化成ent-CPP,SchKS则作用于ent-CPP去磷酸化并再次环化生成贝壳杉烯。该文首次从瑞香狼毒中克隆获得SchCPS与SchKS全长基因,并完成功能验证,不仅丰富了现有的CPS和KS基因库,也为瑞香狼毒中更多活性成分基因的克隆与生物合成途径解析奠定了基础。

关键词：瑞香狼毒贝壳衫烷二萜合酶功能鉴定生物信息学

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

“禁抗”时代人工智能技术在药食同源中药资源饲料化开发中的应用策略探索

引用

中国中药杂志 2024年第2期49卷 344-353页

作者：邵芊芊肖平张霞郭盛段金廒南京中医药大学江苏省中药资源产业化过程协同创新中心中药资源产业化与方剂创新药物国家地方联合工程研究中心国家中医药管理局中药资源循环利用重点研究室江苏南京210023 南京中医药大学人工智能与信息技术学院江苏南京210023

在“禁抗”时代背景下,药食同源中药资源饲料化是抗生素替代品开发领域的研究热点。如何以药食两用中药资源为原料开发出既有益农畜又保障营养平衡且精准的饲料产品成为了难题。人工智能技术在饲料生产和提高智能养殖效率方面具有独特... 详细信息

在“禁抗”时代背景下,药食同源中药资源饲料化是抗生素替代品开发领域的研究热点。如何以药食两用中药资源为原料开发出既有益农畜又保障营养平衡且精准的饲料产品成为了难题。人工智能技术在饲料生产和提高智能养殖效率方面具有独特优势。如将人工智能技术应用于药食同源中药资源饲料化开发中,在保证精准营养的基础上,也可以同时发挥药食同源中药的饲用价值和替抗价值。为了在药食同源中药资源饲料化开发领域更好地应用人工智能技术,该文使用CiteSpace软件进行了文献可视化分析,分析发现人工智能技术近年来在饲料配方优化领域有较好的应用。然而,药食同源中药资源智能化利用研究尚处空白。但是,人工智能技术应用于药食同源中药资源饲料化具有可行性。因此,该文首次提出药食同源中药饲料原料智能配方系统框架,以期为药食同源中药资源饲料化开发领域的研究和抗生素替代品开发领域的研究提供新思路,同时能够为当代畜牧业和中药产业开辟出一条崭新的绿色产业链。

关键词：药食同源中药人工智能智能算法精准营养饲料配方优化可视化分析

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

资源三号03星立体影像与激光测高点联合区域网平差处理及精度验证

引用

遥感学报 2024年第4期28卷 1089-1100页

作者：周平唐新明李丹丹王霞自然资源部国土卫星遥感应用中心北京100048 清华大学地球系统科学系北京100084

利用国产卫星影像开展全球范围地理信息资源建设的前提条件之一是提升卫星影像无地面控制条件下几何精度水平。2020年7月成功发射资源三号03星(ZY3-03)是资源三号系列卫星中的第3颗高分辨率立体测绘卫星,主要用于全球范围1∶5万比例尺... 详细信息

利用国产卫星影像开展全球范围地理信息资源建设的前提条件之一是提升卫星影像无地面控制条件下几何精度水平。2020年7月成功发射资源三号03星(ZY3-03)是资源三号系列卫星中的第3颗高分辨率立体测绘卫星,主要用于全球范围1∶5万比例尺测图应用。卫星搭载了3台全色线阵推扫式光学相机和一台多光谱相机,可获取优于2.5 m分辨率的三线阵立体影像和5.8 m分辨率的多光谱影像。为了提升卫星影像的高程精度,卫星还设计搭载了一台单波束激光测高仪,可同步获取高精度激光测高点。本文提出了一种ZY3-03星激光测高点与立体影像联合区域网平差处理方法。利用激光测高点和同轨获取的正视影像相对平面误差较小的特性,准确获取激光测高点在立体影像上的像方位置;将激光测高点作为立体影像高程控制,并以整轨立体影像为单位开展立体影像与激光测高点的联合区域网平差,实现立体影像高程精度大幅提升。选取黑龙江省中部地区和河北省太行山地区的ZY3-03星三线阵立体影像及其同轨获取的激光测高点开展联合区域网平差试验,结果表明,平地和丘陵地形区域的ZY3-03星立体影像的高程中误差从5.27 m降低至2.58 m,山地地形区域的ZY3-03立体影像的高程中误差从11.25 m降低至4.45 m,均能满足中国1∶5万比例尺立体测图的精度要求。

关键词：遥感资源三号03星三线阵立体影像激光测高点联合区域网平差几何精度

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

Microstructured fluorescence in liquid crystals with femtosecond laser excitation

引用

Chinese Optics Letters 2024年第3期22卷 154-158页

作者：孟霞金萍葛士军刘娇李炳祥王磊陆延青 College of Electronic and Optical Engineering&College of Flexible Electronics(Future Technology) Nanjing University of Posts and TelecommunicationsNanjing 210023China National Laboratory of Solid State Microstructures College of Engineering and Applied SciencesNanjing UniversityNanjing 210093China State Key Laboratory of Millimeter Waves Southeast UniversityNanjing 210096China

This study investigated direct fluorescence generation from a nematic liquid crystal(NLC)NJU-LDn-4 under femtosecond laser excitation.The absorption,transmittance,excitation,and emission spectra of the NLC were assessed.The relationship between the femtosecond pump power and fluorescence intensity was analyzed,revealing a quadratic increase and indicating that two-photon absorption(2PA)is the primary fluorescence mechanism.The LC microstructure was designed using photoalignment technology,allowing the generated fluorescence to reflect the corresponding structure.This research can establish a foundation for tunable LC microstructured fluorescence,with potential applications in fluorescence microscopy and optoelectronics.

关键词： liquid crystal femtosecond laser fluorescence microstructure

来源：

维普期刊数据库

同方期刊数据库评论

在线全文

学校读者我要写书评

暂无评论

欢迎您,

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案：

请选择收藏分类：

通借通还

欢迎您,

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

在线全文

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：