检索结果-南通市图书馆

维普期刊数据库博看期刊

WT1基因变异与Denys-Drash综合征和Frasier综合征的基因型-表型关联性分析

在线全文

学校读者我要写书评

暂无评论

罕见病研究 2024年第1期3卷 63-76页

作者：曹雅清郭保程聂敏中国医学科学院北京协和医院内分泌科国家卫生健康委员会内分泌重点实验室北京100730

目的探讨WT1不同基因型与Denys-Drash综合征(DDS)和Frasier综合征(FS)不同表型之间的关联。方法检索和归纳1991年1月1日至2023年10月31日期间NCBI PubMed和CNKI数据库收录的WT1基因变异患者信息,分析变异类型、发生位置和进展性肾功... 详细信息

目的探讨WT1不同基因型与Denys-Drash综合征(DDS)和Frasier综合征(FS)不同表型之间的关联。方法检索和归纳1991年1月1日至2023年10月31日期间NCBI PubMed和CNKI数据库收录的WT1基因变异患者信息,分析变异类型、发生位置和进展性肾功能损伤、泌尿生殖系统发育不全、肾母细胞瘤、性腺肿瘤等表型的关联性。结果本研究纳入128篇文献,包含304例研究对象,检出86种WT1致病性变异。这些变异的位置分布特点为:最常见发生于外显子9(24/86,27.9%)和外显子8(23/86,26.7%);变异类型特点为:错义变异(51/86,59.3%)最常见,次常见为剪接位点变异(13/86,15.1%)。WT1基因变异导致的疾病种类特点为:DDS病例数最多(174/304,57.2%),其次为FS(83/304,27.3%);DDS主要由外显子9和外显子8上的错义变异(143/174,82.2%)导致,而FS主要由内含子9上的剪接位点变异(76/83,91.6%)导致。结论 WT1基因上外显子9和外显子8的错义变异主要导致DDS,而内含子9的剪接变异主要导致FS。对进展性肾损伤的婴幼儿及儿童应进行泌尿生殖系统的全面评估,早期明确基因诊断,以改善预后。

关键词： WT1基因 Denys-Drash综合征 Frasier综合征 46 XY性发育障碍孤立性肾病综合征肾母细胞瘤

Cloning and sequence analysis of Sox genes in a tetraploid cyprinid fish,Tor douronensis

在线全文

学校读者我要写书评

暂无评论

Chinese Science Bulletin 2008年第13期53卷 1988-1995页

作者： guo baocheng Li JunBing TONG ChaoBo HE ShunPing Institute of Hydrobiology Chinese Academy of Sciences Wuhan 430072 China Graduate University of the Chinese Academy Sciences Beijing 100049 China

A PCR survey for Sox genes in a young tetraploid fish Tor douronensis (Teleostei:Cyprinidae) was per-formed to access the evolutionary fates of important functional genes after genome duplication caused by polyploidization event. Totally 13 Sox genes were obtained in Tor douronensis,which represent SoxB,SoxC and SoxE groups. Phylogenetic analysis of Sox genes in Tor douronensis provided evidence for fish-specific genome duplication,and suggested that Sox19 might be a teleost specific Sox gene member. Sequence analysis revealed most of the nucleotide substitutions between duplicated copies of Sox genes caused by tetraploidization event or their orthologues in other species are silent substitutions. It would appear that the sequences are under purifying selective pressure,strongly suggesting that they repre-sent functional genes and supporting selection against all null allele at either of two duplicated loci of Sox4a,Sox9a and Sox9b. Surprising variations of the intron length and similarities of two duplicated copies of Sox9a and Sox9b,suggest that Tor douronensis might be an allotetraploidy.

关键词：四倍体短基因基因复制基因多样性

Bayesian mixed models and divergence time estimation of Chinese cavefishes (Cyprinidae: Sinocyclocheilus)

在线全文

学校读者我要写书评

暂无评论

Chinese Science Bulletin 2008年第15期53卷 2342-2352页

作者： LI ZhiQiang guo baocheng LI JunBing HE ShunPing CHEN YiYu Institute of Hydrobiology Chinese Academy of Sciences Wuhan 430072 China Graduate University of the Chinese Academy of Sciences Beijing 100049 China

The genus Sinocyclocheilus is distributed in Yun-Gui Plateau and its surrounding region only, within more than 10 cave species showing different degrees of degeneration of eyes and pigmentation with wonderful adaptations. To present, published morphological and molecular phylogenetic hypotheses of Sinocyclocheilus from prior works are very different and the relationships within the genus are still far from clear. We obtained the sequences of cytochrome b (cyt b) and NADH dehydrogenase subunit 4 (ND4) of 34 species within Sinocyclocheilus, which represent the most dense taxon sampling to date. We performed Bayesian mixed models analyses with this data set. Under this phylogenetic framework, we estimated the divergence times of recovered clades using different methods under relaxed mo-lecular clock. Our phyloegentic results supported the monophyly of Sinocyclocheilus and showed that this genus could be subdivided into 6 major clades. In addition, an earlier finding demonstrating the polyphyletic of cave species and the most basal position of S. jii was corroborated. Relaxed diver-gence-time estimation suggested that Sinocyclocheilus originated at the late Miocene, about 11 million years ago (Ma), which is older than what have been assumed.

关键词：中国洞穴鱼系统发育变异状况生长特点

Enlarged fins of Tibetan catfish provide new evidence of adaptation to high plateau

在线全文

学校读者我要写书评

暂无评论

Science China(Life Sciences) 2023年第7期66卷 1554-1568页

作者： Liandong Yang Ning Sun Honghui Zeng Ying Wang Wenjun Chen Zufa Ding Yang Liu Jing Wang Minghui Meng Yanjun Shen Jingliang Kang Xiuhui Ma Wenqi Lv Juan Chen Axel Meyer baocheng guo Shunping He State Key Laboratory of Freshwater Ecology and Biotechnology Institute of HydrobiologyChinese Academy of SciencesWuhan430072China Key Laboratory of Zoological Systematics and Evolution Institute of ZoologyChinese Academy of SciencesBeijing100101China Academy of Plateau Science and Sustainability Qinghai Normal UniversityXining810016China Hubei Engineering Research Center for Protection and Utilization of Special Biological Resources in the Hanjiang River Basin School of Life SciencesJianghan UniversityWuhan430056China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of ZoologyChinese Academy of SciencesKunming650223China University of Chinese Academy of Sciences Beijing100049China Department of Biology University of Konstanz78457KonstanzGermany Center for Excellence in Animal Evolution and Genetics Chinese Academy of SciencesKunming650223China

The uplift of the Tibetan Plateau significantly altered the geomorphology and climate of the Euroasia by creating large mountains and *** are more likely to be affected relative to other organisms,as they are largely restricted to river *** with the rapidly flowing water in the Tibetan Plateau,a group of catfish has evolved greatly enlarged pectoral fins with more numbers of fin-rays to form an adhesive ***,the genetic basis of these adaptations in Tibetan catfishes remains *** this study,we performed comparative genomic analyses based on the chromosome-level genome of Glyptosternum maculatum in family Sisoridae and detected some proteins with conspicuously high evolutionary rates in particular in genes involved in skeleton development,energy metabolism,and hypoxia *** found that the hoxd12a gene evolved faster and a loss-of-function assay of hoxd12a supports a potential role for this gene in shaping the enlarged fins of these Tibetan *** genes with amino acid replacements and signatures of positive selection included proteins involved in low temperature(TRMU)and hypoxia(VHL)*** assays reveal that the *** TRMU allele generates more mitochondrial ATP than the ancestral allele found in low-altitude *** assays of VHL alleles suggest that the *** allele has lower transactivation activity than the low-altitude *** findings provide a window into the genomic underpinnings of physiological adaptations that permit *** to survive in the harsh environment of the Tibetan Himalayas that mirror those that are convergently found in other vertebrates such as humans.

关键词： Glyptosternum maculatum enlarged fins adaptation Tibetan Plateau

Innovations in metallurgical and materials processes:advancing liquid theory and honoring ***-jie guo's contributions to physical chemistry in metallurgy

在线全文

学校读者我要写书评

暂无评论

Journal of Iron and Steel Research(International) 2024年第1期31卷 1-2页

作者： Shuai Liu Jing guo Han-jie guo School of Artificial Intelligence Beijing Technology and Business UniversityBeijing100048China School of Metallurgical and Ecological Engineering University of Science and Technology Beijing(USTB)Beijing100083China

Spanning three decades,***-jie guo's research group has dedicated itself to exploring the fundamental theories and practical applications of physical chemistry within the realm of *** under the assumption that molecul... 详细信息

关键词： chemistry liquid complexes

Ventilation Structure Optimization and Performance Analyses of Permanent Magnet Wind Generators

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

中国电机工程学报 2013年第9期33卷 I0016-I0016页

作者： DING Shuye guo baocheng SUN Zhaoqiong Harbin University of Science and Technology No. 21 Research Institute of China Electronics Technology Group Corporation

为了提高永磁风力发电机的通风冷却效果,以一台2.5 MW永磁风力发电机为例,基于计算流体力学（computational fluid dynamics,CFD）以及传热传质学基本理论,根据流–热协同机理,建立了包括外部通风系统的三维流体流动与传热的求解模型。... 详细信息

为了提高永磁风力发电机的通风冷却效果,以一台2.5 MW永磁风力发电机为例,基于计算流体力学（computational fluid dynamics,CFD）以及传热传质学基本理论,根据流–热协同机理,建立了包括外部通风系统的三维流体流动与传热的求解模型。应用有限体积元法,对电机通风冷却性能进行了数值研究,并与实验数据进行对比分析,实验结果验证了计算结果的准确性以及求解方法的合理性。通过改变电机内径向通风沟结构尺寸,提出4种优化方案,通过对不同结构方案条件下通风冷却性能进行对比研究,给出了发电机最佳的结构方案。所得结论可以为永磁风力发电机通风结构的设计提供参考。

关键词：风力发电机性能分析永磁材料通风结构结构优化单机容量永久磁铁发生器

Emerging direct current triboelectric nanogenerator for high-entropy mechanical energy harvesting

在线全文

学校读者我要写书评

暂无评论

Science China(Technological Sciences) 2024年第5期67卷 1297-1316页

作者： CHEN Jie guo RuiLong guo HengYu College of Physics and Electronic Engineering Chongqing Normal UniversityChongqing 401331China Department of Applied Physics Chongqing UniversityChongqing 401331China

In the era of the Internet of Things(IoT),the provision of sustainable power to distributed,mobile,and low-power-consumption electronic devices is a critical *** overcome this challenge,the triboelectric nanogenerator(TENG),a highly efficient high-entropy mechanical energy harvesting device,was developed in *** device enables the direct conversion of irregular and low-frequency mechanical energy into pulsed alternating current(AC)***,the incompatibility of most electronic devices with AC signals necessitates rectifier circuits or generators that deliver direct current(DC)*** recent years,DC-TENGs have undergone extensive development,achieving significant milestones in various application fields while also facing crucial challenges that require *** this review,three categories of DC-TENG devices with distinct operating mechanisms are comprehensively explored:multiphase coupling,mechanical rectification,and air *** typical structures and working mechanisms are thoroughly discussed,and specific output performance limitations,along with corresponding optimization strategies,are ***,the applications of DC-TENGs in various scenarios are ***,the challenges faced by DC-TENGs and potential solutions are analyzed to guide further advancements in this technology.

关键词： TENG direct current working mechanisms output performance limitations optimization strategies

Physicochemical principles of hydrogen metallurgy in blast furnace

在线全文

学校读者我要写书评

暂无评论

Journal of Iron and Steel Research(International) 2024年第1期31卷 46-63页

作者： Han-jie guo School of Metallurgical and Ecological Engineering University of Science and Technology BeijingBeijing100083China Beijing Key Laboratory of Special Melting and Preparation of High-End Metal Materials Beijing100083China

Based on the stoichiometric method and the free energy minimization method,an ideal model for the reduction of iron oxides by carbon and hydrogen under blast furnace conditions was established,and the reduction efficiency and theoretical energy consumption of the all-carbon blast furnace and the hydrogen-rich blast furnace were *** results show that after the reduction reaction is completed at the bottom of the blast furnace,the gas produced by reduction at 1600℃still has a certain excessive reduction capacity,which is due to the hydrogen brought in by the hydrogen-rich blast as well as the excess carbon monoxide generated by the reaction of the coke and the oxygen brought in by the *** the process of the gas with excessive reduction capacity rising from the bottom of the blast furnace and gas reduction process,the excessive reduction capacity of the gas gradually decreases with the increase in the dydrogen content in the *** the all-carbon blast furnace,the excess gas reduction capacity is the strongest,and the total energy consumption per ton of iron reduction is the *** shows that,for the current operation mode of the blast furnace,adding hydrogen in the blast furnace cannot reduce the consumption of carbon required for reduction per ton of iron,but rather increases the consumption of carbon.

关键词： Hydrogen metallurgy Excess gas reduction capacity Theoretical energy consumption Hydrogen-rich blast furnace Thermodynamic model Gibbs minimum free energy method

Control Strategies for Digital Twin Systems

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

IEEE/CAA Journal of Automatica Sinica 2024年第1期11卷 170-180页

作者： guo-Ping Liu IEEE the Center for Control Science and Technology Southern University of Science and TechnologyShenzhen 518055China

With the continuous breakthrough in information technology and its integration into practical applications, industrial digital twins are expected to accelerate their development in the near future. This paper studies various control strategies for digital twin systems from the viewpoint of practical *** make full use of advantages of digital twins for control systems, an architecture of digital twin control systems, adaptive model tracking scheme, performance prediction scheme, performance retention scheme, and fault tolerant control scheme are proposed. Those schemes are detailed to deal with different issues on model tracking, performance prediction, performance retention, and fault tolerant control of digital twin systems. Also, the stability of digital twin control systems is analysed. The proposed schemes for digital twin control systems are illustrated by examples.

关键词： Digital twin control systems fault tolerant control model tracking performance prediction performance retention