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冯友兰哲学“负的方法”平议
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作者 阎韬 《哲学分析》 北大核心 2024年第3期53-64,197,共13页
冯友兰先生对于所谓哲学的“负的方法”,即神秘主义的方法,曾下很大功夫来阐释。他认为关于宇宙本体,负的方法是“不说它”而“表显”它。他对禅宗的“表显”进行过多方面的考察,但因以“六经注我”的方式利用史料,许多解释都有背原意... 冯友兰先生对于所谓哲学的“负的方法”,即神秘主义的方法,曾下很大功夫来阐释。他认为关于宇宙本体,负的方法是“不说它”而“表显”它。他对禅宗的“表显”进行过多方面的考察,但因以“六经注我”的方式利用史料,许多解释都有背原意。他自己编制的“表显”公式——新“五位”说,也不成功。所谓“表显”,实质上不过是另类言说,花样翻新地重复着“说不可说”的自反式悖论。 展开更多
关键词 禅宗 维特根斯坦 负的方法 表显
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用扫描电子显微镜透视半导体和集成电路
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作者 梁竹关 李亚文 +6 位作者 肖玲 王建 周开邻 李萍 徐晓华 Pay Э И 胡问国 《电子显微学报》 CAS CSCD 北大核心 2001年第4期404-405,共2页
关键词 扫描电镜 半导体材料 集成电路 微结构分析 透视 缺陷 表显微内窥法
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ANALYSIS ON SURFACE INTEGRITY DURING HIGH SPEED MILLING FOR NEW DAMAGE-TOLERANT TITANIUM ALLOY 被引量:11
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作者 史琦 何宁 +2 位作者 李亮 赵威 刘晓丽 《Transactions of Nanjing University of Aeronautics and Astronautics》 EI 2012年第3期222-226,共5页
Surface integrity of a new damage-tolerant titanium alloy (TC21), including surface roughness, microhardness and metallurgical structure is investigated when normal and high speed milling are used at different tool ... Surface integrity of a new damage-tolerant titanium alloy (TC21), including surface roughness, microhardness and metallurgical structure is investigated when normal and high speed milling are used at different tool wear status. Results show that good surface integrity of TC21 can be obtained in high speed milling. In addition, even in acutely worn stages, there is no so-called serious hardening layer (or white layer) according to the studies on microhardness and metallurgical structure. 展开更多
关键词 surface integrity surface roughness MICROHARDNESS high speed milling
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Microstructure and properties of alloying coating on AZ31B magnesium alloy 被引量:5
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作者 刘奋军 孟庆森 李增生 《Transactions of Nonferrous Metals Society of China》 SCIE EI CAS CSCD 2016年第9期2347-2354,共8页
Vacuum thermal diffusion technique was applied to preparing alloying coating on AZ31 B magnesium alloy. The microstructure and phase composition of the coatings prepared at different holding time were investigated in ... Vacuum thermal diffusion technique was applied to preparing alloying coating on AZ31 B magnesium alloy. The microstructure and phase composition of the coatings prepared at different holding time were investigated in detail using optical microscopy(OM), scanning electron microscopy(SEM), energy dispersive spectrometer(EDS) and X-ray diffraction(XRD), and so on. The microhardness tester and electrochemical workstation(PS-168a) were used to measure the microhardness and corrosion resistance of the alloying coating. The results showed that the alloying coatings gradually generated with the extension of holding time under constant temperature. And the obvious bonding interface between the coating and substrate was observed, and the bonding interface was changed from smooth to zigzag. EDS and XRD analyses showed that the microstructure of alloying coating mainly consisted of eutectic α-Mg phase and continuous network β-Al(12)Mg(17) phase. The average microhardness of the coatings increased by 113% in comparison to the substrate, and the self-corrosion potential increased from-1.389 to-1.268 V at the same time. 展开更多
关键词 AZ31B magnesium alloy vacuum diffusion surface alloying MICROHARDNESS corrosion resistance
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Differential Gene Expression Between Wheat Hybrids and Their Parental Inbreds in Primary Roots 被引量:10
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作者 倪中福 孙其信 +1 位作者 吴利民 解超杰 《Acta Botanica Sinica》 CSCD 2002年第4期457-462,共6页
To provide an insight into the molecular basis of heterosis, differential display of mRNA was used to analyze the difference of gene expression between wheat (Triticum aestivum L.) heterotic hybrid A, nonheterotic hyb... To provide an insight into the molecular basis of heterosis, differential display of mRNA was used to analyze the difference of gene expression between wheat (Triticum aestivum L.) heterotic hybrid A, nonheterotic hybrid B and their parental inbreds in the primary roots. By using 5′ end random primers in combination with three one-base-anchored primers, it was found that 22.5% and 22.9% of 877 total displayed cDNAs were differentially expressed between hybrid A, B and their parents, respectively. Both quantitative and qualitative differences in gene expression between hybrids and their parental inbreds were obvious, indicating that the patterns of gene expression in hybrids alter significantly as compared to their corresponding parents. On the other hand, by using MADS-box gene specific 5′ end primer for DDRT-PCR, we found that nearly all of the displayed cDNA fragments were polymorphic between hybrids and their parents, and major difference occurred in qualitative level, in which hybrid specific-expressed and silenced genes are the major two patterns, suggesting that MADS-box gene may be important for manifestation of differential gene expression and wheat heterosis. In comparison with our previous results by using seedling leaves, it is indicated that differential gene expression between hybrids and parents is dependent on the tissues tested, and more differentially expressed genes were observed in the primary roots than in the seedling leaves. Therefore, it is concluded that the expressions of both randomly displayed cDNAs and transcription factor genes, such as MADS-box, alter significantly between hybrids and their parents, which might be responsible for the observed heterosis. 展开更多
关键词 differential display gene expression HETEROSIS WHEAT primary roots
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Laser surface melting AZ31B magnesium alloy with liquid nitrogen-assisted cooling 被引量:7
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作者 崔泽琴 施海霞 +1 位作者 王文先 许并社 《Transactions of Nonferrous Metals Society of China》 SCIE EI CAS CSCD 2015年第5期1446-1453,共8页
Laser surface melting(LSM) is a high-energy surface treatment that allows modification of the microstructure and surface properties of Mg alloys. In the present work, an attempt of LSM on magnesium alloy with liquid... Laser surface melting(LSM) is a high-energy surface treatment that allows modification of the microstructure and surface properties of Mg alloys. In the present work, an attempt of LSM on magnesium alloy with liquid nitrogen-assisted cooling(LNSC) was carried out to get the higher cooling rate and improve the surface properties. The experimental results were compared with those of Ar gas protection at room temperature. The samples after LSM with LNSC resulted in a thinner melted layer, a highly homogeneous, refined melted microstructure and formed a lot of worm-like nanocrystals and local amorphous structures. Microhardness of the melted layer with LNAC was improved to HV 90-148 as compared to HV 65-105 of the samples with Ar gas protection. The corrosion resistance of the melted layer in a 3.5% Na Cl solution(mass fraction) was improved because of the grain refinement and redistribution of β-Mg17Al12 phases following rapid quenching associated with the process. 展开更多
关键词 magnesium alloy laser surface melting liquid nitrogen-assisted cooling MICROHARDNESS corrosion resistance
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Obsevation for Epidermal Ultrastructure of Nostoc sphaeroides Kutzing under Scanning Electron Microscope 被引量:1
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作者 李莉 《Agricultural Science & Technology》 CAS 2009年第1期1-3,共3页
[Objective]The experiment aimed to explore a new way for observing surface structure of Nostoc sphaeroides Kutzing. [Method] The scanning electron microscope was used to observe the epidermal ultrastructure of wild an... [Objective]The experiment aimed to explore a new way for observing surface structure of Nostoc sphaeroides Kutzing. [Method] The scanning electron microscope was used to observe the epidermal ultrastructure of wild and cultured Nostoc sphaeroides Kutzing. [ Result] The epidermis of wild and cultured Nostoc sphaeroides Kutzing showed mixture structure of fibril colloid which was reticular arranged. The difference between wild and cultured Nostoc sphaeroides Kutzing was that the outer epidermis of cultured Nostoc sphaeroides Kutzing had trichome distribution but the wild Nostoc sphaeroides Kutzing did not has such distribution. The obsevation results of under smaller than 10 μm by scanning electron microscope was touched thick and showed many folds and distortions. [ Conclusion] The scanning electron microscope was an effective way to study development of Nostoc sphaeroides Kutzing colony and it was worth popularizing. 展开更多
关键词 Nostoc sphaeroides Kutzing Epidermal ultrastructure Scanning electron microscope
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Surface modification of Cu-25Cr alloy induced by high current pulsed electron beam 被引量:2
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作者 周志明 柴林江 +3 位作者 肖志佩 涂坚 王亚平 黄伟九 《Transactions of Nonferrous Metals Society of China》 SCIE EI CAS CSCD 2015年第6期1935-1943,共9页
A Cu-25Cr alloy prepared by vacuum induction melting method was treated by the high current pulsed electron beam (HCPEB) with pulse numbers ranging from 1 to 100. Surface morphologies and microstructures of the allo... A Cu-25Cr alloy prepared by vacuum induction melting method was treated by the high current pulsed electron beam (HCPEB) with pulse numbers ranging from 1 to 100. Surface morphologies and microstructures of the alloy before and after the treatment were investigated by scanning electron microscopy and X-ray diffraction. The results show that significant surface modification can be induced by HCPEB with the pulse number reaching 10. Craters with typical morphologies on the Cu-25Cr alloy surface are formed due to the dynamic thermal field induced by the HCPEB. Micro-cracks, as a unique feature, are well revealed in the irradiated Cu-25Cr specimens and attributed to quasi-static thermal stresses accumulated along the specimen surface. The amount of cracks is found to increase with the pulse number and a preference of these cracks to Cr phases rather than Cu phases is also noted. Another characteristic produced by the HCPEB is the fine Cr spheroids, which are determined to be due to occurrence of liquid phase separation in the Cu-25Cr alloy. In addition, an examination on surface roughness of all specimens reveals that more pulses will produce a roughened surface, as a result of compromising the above features. 展开更多
关键词 Cu-Cr alloy surface modification high current pulsed electron beam MICROSTRUCTURE
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弘扬中华优秀传统文化助推学前教育专业礼仪教学——让礼仪之“雅”折射教育之“魅”
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作者 吴丽 《中文科技期刊数据库(全文版)教育科学》 2016年第12期320-321,共2页
礼义是中国传统文化的精髓和内核,是社会主义核心价值体系的重要组成部分。面对幼儿,良好的行为习惯需要用礼仪语言教诲,用礼仪意识哺育,用礼仪行为感染,用礼仪素养滋润。当前,我们正在大力推行社会主义现代化建设,实现中华民族伟大复... 礼义是中国传统文化的精髓和内核,是社会主义核心价值体系的重要组成部分。面对幼儿,良好的行为习惯需要用礼仪语言教诲,用礼仪意识哺育,用礼仪行为感染,用礼仪素养滋润。当前,我们正在大力推行社会主义现代化建设,实现中华民族伟大复兴。文化是民族认同的基础,是民族凝聚的核心。本文从师表显雅、师言传雅、师行创雅、师缘促雅四个方面弘扬中国传统文化中“仁爱”、“信用”、“礼让”之核心价值观;找寻传统文化中的智慧与思想,助推学前教育专业礼仪教学;更在“学为人师、行为世范”中让教师的“雅”成为“对学生最生动、最具体、最深远的教育”。 展开更多
关键词 学前教育专业 中国传统文化 表显 师言传雅 师行创雅 师缘促雅
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Explanatory System of Support Vector Regression and Its Application in QSPR of Surfactants
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作者 谭显胜 金晨钟 +1 位作者 李巍巍 袁哲明 《Agricultural Science & Technology》 CAS 2016年第11期2452-2456,共5页
In order to solve the problem of poor interpretability of support vector re- gression (SVR) applied in quantitative structure-property relationship (QSPR), a com- plete set of explanatory system for SVR was establ... In order to solve the problem of poor interpretability of support vector re- gression (SVR) applied in quantitative structure-property relationship (QSPR), a com- plete set of explanatory system for SVR was established based on F-test, The nov- el explanatory system includes significance tests of model and single-descriptor im- portance, single-descriptor effect and sensitivity analysis, and significance tests of interaction between two descriptors, etc. The results of example indicated that the explanatory results of the new system were consistent well with those of stepwise linear regression model and quadratic polynomial stepwise regression model. The explanatory SVR model will play an important role in regression analysis such as QSPR. 展开更多
关键词 Support vector regression Explanatory system SURFACTANT Significant test Quantitative structure-property relationship
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Relationship Between Differential Gene Expression and Heterosis During Ear Development in Maize (Zea mays L.) 被引量:5
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作者 王新军 曹海河 +4 位作者 张登峰 李波 贺岩 李建生 王守才 《Journal of Genetics and Genomics》 SCIE CAS CSCD 北大核心 2007年第2期160-170,共11页
Maize (Zea raays L.) is one of the most important crops because of the remarkable properties of its hybrid, which is responsible for the high commercial value of hybrid maize. The genetic basis of heterosis (hybrid... Maize (Zea raays L.) is one of the most important crops because of the remarkable properties of its hybrid, which is responsible for the high commercial value of hybrid maize. The genetic basis of heterosis (hybrid vigor) is not well understood. A differential display technique was performed to identify genes with differential expression across twelve maize inbred lines and thirty-three hybrids during ear development. An incomplete diallel design was used to investigate the relationship between the global framework of differential gene expression and heterosis. It was found that the genes belonging to MONO pattern (i.e., genes expressed in both parental lines and in hybrid) was the highest in percentage among the total five patterns and illustrated that the properties of differentially expressed genes are not entirely responsible for heterosis. Furthermore,a larger number of differentially expressed genes in hybrid, which serves as a major reservoir for generating novel phenotypes that exhibit heterosis of certain agronomic traits during early development and differentiation of maize ear. Moreover, there were some silent genesin hybrids that are responsible for the arrest or abortion of spikelets and for the increase in kernels weight. 展开更多
关键词 EAR HETEROSIS performance of hybrid differential gene expression pattern differential display
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Electronic Chart Display and Information System 被引量:3
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作者 WAN Xiaoxia GAN Chaohua 《Geo-Spatial Information Science》 2002年第1期7-11,21,共6页
This paper introduces the most advanced form of electronic chart display and information systems (ECDIS) which complies with the Performance Standards for ECDIS established by the International Maritime Organization (... This paper introduces the most advanced form of electronic chart display and information systems (ECDIS) which complies with the Performance Standards for ECDIS established by the International Maritime Organization (IMO) and the International Hydrographic Organization (IHO).It also describes the key features and the important functions of ECDIS.Then the future development of ECDIS in marine is discussed. 展开更多
关键词 ECDIS ECS DISPLAY key features performance standards
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Molecular Cloning of Early-expressed cDNAs from Rice in Response to Infection by Rice Blast Fungus Magnaporthe grisea 被引量:1
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作者 杨文玉 朱群 白永延 《Acta Botanica Sinica》 CSCD 2000年第1期55-58,共4页
Compatible and incompatible reactions in rice plants ( Oryza sativa L. cv. Shenxianggen No.4) were resulted from inoculation with two different virulent races of rice blast fungus ( Magnaporthe grisea (Hebert) B... Compatible and incompatible reactions in rice plants ( Oryza sativa L. cv. Shenxianggen No.4) were resulted from inoculation with two different virulent races of rice blast fungus ( Magnaporthe grisea (Hebert) Barr), and thus an effective infecting system was established between rice plants and the rice blast pathogen. Two cDNA clones that showed induced and temporal patterns in expression in the very early stage in response to infection of the fungus were obtained from the plants by use of differential display. Of the two cDNA clones, Fastresp_a was induced to express in both compatible and incompatible interactions although it was expressed earlier in the former reaction. The second one, Fastresp_b , was only expressed in incompatible interaction. Southern blot analysis of the rice genomic DNA indicated that both of the two clones were from genome of the plant. No significant homology to the two genes was found from the rice gene database. This suggested that they were novel genes in rice and may play important roles in rice resistant response to infection of rice blast fungus. 展开更多
关键词 differential display early_expressed genes Oryza sativa rice blast fungus
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Effect of deep surface rolling on microstructure and properties of AZ91 magnesium alloy 被引量:7
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作者 Xian LUO Qi-yang TAN +4 位作者 Ning MO Yu YIN Yan-qing YANG Wyman ZHUANG Ming-xing ZHANG 《Transactions of Nonferrous Metals Society of China》 SCIE EI CAS CSCD 2019年第7期1424-1429,共6页
A solution-treated AZ91 bulk material was deep-surface-rolled at room temperature to investigate the effect of deep surface rolling on the microstructure and mechanical properties of the alloy. Microhardness and micro... A solution-treated AZ91 bulk material was deep-surface-rolled at room temperature to investigate the effect of deep surface rolling on the microstructure and mechanical properties of the alloy. Microhardness and microstructure along the depth of the treated surface layer were characterized. The results show that the affected layer was up to 2.0 mm thick and consisted of three sublayers: a severe deformation layer with thickness of about 400 μm from the topmost surface, a medium deformation layer with thickness of around 600 μm and a small deformation layer up to 1000 μm thick. In addition to grain refinement in the deformation layer, strain-induced precipitation of β phase (Mg17Al12) was observed, particularly in the severe and medium deformation layers. It is believed that the cooperative effects of grain refinement, strain hardening and precipitation strengthening led to the significant increase in hardness of the AZ91 alloy after the deep surface rolling. 展开更多
关键词 surface deformation magnesium alloy deep surface rolling microstructural evolution HARDNESS
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The Explicit Expressions of Level- k(r1 ,r2 ,… ,rk) Circulant Matrices and Their Some Properties 被引量:3
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作者 江兆林 叶留青 邓方安 《Chinese Quarterly Journal of Mathematics》 CSCD 1998年第2期91-96, ,共6页
In this paper,we give the explicit expressions of level k (r 1,r 2,…,r k) circulant matrices of order n 1n 2…n k,and the explicit expressions for the eigenvalues,the determinants and the inverse matrices of the kind... In this paper,we give the explicit expressions of level k (r 1,r 2,…,r k) circulant matrices of order n 1n 2…n k,and the explicit expressions for the eigenvalues,the determinants and the inverse matrices of the kind level k (r 1,r 2,…,r k) circulant matrices are derived,and it is also proved that the sort of matrices are diagonalizable. 展开更多
关键词 level-k (r 1 r 2 r k) circulant matrices explicit expressions EIGENVALUES inverse matrices
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Navigation Map Data Representation and Parallel Display Algorithm in an Embedded Environment 被引量:5
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作者 ZHANG Dong WANG Ling +1 位作者 HUI Hongchao LI Heyuan 《Geo-Spatial Information Science》 2008年第1期62-65,共4页
Map data display is the basic information representation mode under embedded real-time navigation. After a navigation display data set (NDIS_SET) with several dimensions and corresponding mathematical description fo... Map data display is the basic information representation mode under embedded real-time navigation. After a navigation display data set (NDIS_SET) with several dimensions and corresponding mathematical description formula are designed, a series of rules and algorithms are advanced to optimize embedded navigation data and promote data index and input efficiency. A new parallel display algorithm with navigation data named N PDIS is then presented to adapt to limited embedded resources of computation and memory after a normal navigation data display algorithm named NDIS and related problems are analyzed, N_PDIS can synchronously create two preparative bitmapa by two parallel threads and switch one of them to screen automatically. Compared with NDIS, the results show that N_PDIS is more effective in improving display efficiency. 展开更多
关键词 embedded system map representation parallel display vehicle navigation
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The Explicit Expressions of Level-k Circulant Matrices of Type(n_1,n_2.…,n_k) and Their Some Properties 被引量:2
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作者 江兆林 郭运瑞 《Chinese Quarterly Journal of Mathematics》 CSCD 1996年第3期103-110,共8页
In this paper, we give the explicit expressions of level-k circulant matrices of type (n1,n2,…nk) and of order n1n2…nk,and the explicit expressions for the eigenvalues,the determinants and the inverse matrices of th... In this paper, we give the explicit expressions of level-k circulant matrices of type (n1,n2,…nk) and of order n1n2…nk,and the explicit expressions for the eigenvalues,the determinants and the inverse matrices of the kind level-k circulant matrices are derived,and it is also proved that the sort matrices are unitarily diagonalizable. 展开更多
关键词 level-k circulant matrices of type (n1 n2 nk) explicit expressions eigenvalues determinants inverse matrices unitarily diagonalizable
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Rescue of the albino phenotype by introducing a functional tyrosinase minigene into Kunming albino mice 被引量:2
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作者 Dong Xiao Ying Yue +8 位作者 Xin-Yan Deng Bing Huang Zhong-Min Guo Yun Ma Yi-Li Lin Xun Hong Huan Tang Kang Xu Xi-Gu Chen 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第2期244-249,共6页
AIM: To use the tyrosinase minigene as a visual marker to perform microinjection training and improve the techniques related with transgene to greatly elevate the effidency of gene transfer. METHODS: A mouse tyrosin... AIM: To use the tyrosinase minigene as a visual marker to perform microinjection training and improve the techniques related with transgene to greatly elevate the effidency of gene transfer. METHODS: A mouse tyrosinase minigene, i.e., TyBS, in which the 2.25-kb authentic genomic 5' non-coding flanking sequence of mouse tyrosinase was fused to a mouse tyrosinase cDNA, was introduced into the fertilized eggs of outbred Kunming albino mice. RESULTS: Of the 11 animals that developed from the injected eggs, two mice (P1 and #8) exhibited pigmented hair (P1) and eyes (P1 and #8), as confirmed by PCR analysis for the tyrosinase minigene integrated into the genome. When founder P1 was bred to Kunming male mouse, six progeny out of 11 offspring inherited the transgene and the pigmented-eye phenotype. CONCLUSION: Taken together, these results suggest that this minigene encodes the active tyrosinase protein and that its 5' flanking region contains the sequences regulating the expression of mouse tyrosinase gene as expected. We have rescued the albino phenotype by introduction and expression of a functional tyrosinase minigene in the Kunming albino mouse and the transgene can be passed to subsequent generation. These findings also indicate that TyBS can be a useful visual marker gene in the co-transgenic experiments. 展开更多
关键词 MINIGENE Transgenic mice MELANIZATION Phenotypic rescue
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Surface Display of Domain Ⅲ of Japanese Encephalitis Virus E Protein on Salmonella Typhimurium by Using an Ice Nucleation Protein 被引量:2
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作者 Jian-lin Dou Tao Jing +1 位作者 Jingojing Fan Zhi-ming Yuan 《Virologica Sinica》 SCIE CAS CSCD 2011年第6期409-417,共9页
A bacterial cell surface display technique based on an ice nucleation protein has been employed for the development of live vaccine against viral infection. Due to its ubiquitous ability to invade host cells, Salmonel... A bacterial cell surface display technique based on an ice nucleation protein has been employed for the development of live vaccine against viral infection. Due to its ubiquitous ability to invade host cells, Salmonella typhimurium might be a good candidate for displaying viral antigens. We demonstrated the surface display of domain III of Japanese encephalitis virus E protein and the enhanced green fluorescent protein on S. typhimurium BRD509 using the ice nucleation protein. The effects of the motif in the ice nucleation protein on the effective display of integral protein were also investigated. The results showed that display motifs in the protein can target integral foreign protein on the surface of S. typhimurium BRD509. Moreover, recombinant strains with surface displayed viral proteins retained their invasiveness, suggesting that the recombinant S. typhimurium can be used as live vaccine vector for eliciting complete immunogenicity. The data may yield better understanding of the mechanism by which ice nucleation protein displays foreign proteins in the Salmonella strain. 展开更多
关键词 Cell surface display Ice nucleation protein Salmonella typhimurium Japanese encephalitis virus
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A COMPLETE SCREEN FOR MUTATIONS OF THE RHODOPSIN GENE IN A PANEL OF CHINESE PATIENTS WITH AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA 被引量:7
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作者 Xiao-liZhang MingLiu +4 位作者 Xiao-hongMeng Wei-lingFu Zheng-qinYin XueZhang Jun-fuHuang 《Chinese Medical Sciences Journal》 CAS CSCD 2005年第1期30-34, ,共5页
Objective To evaluate the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrop... Objective To evaluate the prevalence of rhodopsin (RHO) mutations and the genotype-phenotype relationships in Chinese patients with autosomal dominant retinitis pigmentosa (ADRP) by conformation sensitive gel electrophoresis (CSGE) and direct DNA sequencing. Methods We have screened the five coding exons and splice sites of RHO gene in 27 probands who had no relativity from Chinese ADRP families and 100 normal controls to identify disease-associated mutations, using CSGE and direct DNA sequencing. Family members of some probands with disease-associated mutations were also genotyped to determine whether the RHO mutations segregated with retinitis pigmentosa (RP) in their families. Results Two RHO mutations, Pro347Leu and Pro327 (1-bp del), were identified separately in two families, thus the frequency of RHO mutations among this set of Chinese ADRP families is about 7.4% (2/27). Pro347Leu mutation was found in one ADRP proband as well as three her children who also had RP. She had relatively early onset at about 17 years. The only one child without this mutation had no symptom or sign of RP at age of 34. Pro327 (1-bp del) was identified in a late-onset ADRP patient, who appeared night blindness around 30 years old and in her fifties electroretinogram (ERG) has been flat in both scotopic and photopic phases. Family analysis showed that this mutation also existed in her younger dau-ghter and her elder sister, both of them also had RP. Three other family members were genotypically and phenotypically normal. Neither of the two mutations was detected in 100 normal controls.Conclusions The frequency of RHO mutations in Chinese patients was lower than that in Europe and North America. The phenotype of the patients with Pro347Leu corresponded to type 1 ADRP, with severe rod degeneration and some cone preservation later, while the phenotype of the patients carrying Pro327 (1-bp del) corresponded to type 2 ADRP, with a concomitant loss of rod and cone visual function. CSGE was found to be a sensitive, simple, and practical method for the screening of a large number of samples under highly reproducible conditions, and could be utilized in routine molecular diagnostic laboratories. 展开更多
关键词 autosomal dominant retinitis pigmentosa rhodopsin mutation conformation sensitive gel electrophoresis
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