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Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

《医学前沿（英文）》 2021年 第15卷 第6期   页码 877-886 doi: 10.1007/s11684-021-0863-4

摘要： Proline-rich transmembrane protein 2 (PRRT2) is the leading cause of paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy (BFIE), and infantile convulsions with choreoathetosis (ICCA). Reduced penetrance of PRRT2 has been observed in previous studies, whereas the exact penetrance has not been evaluated well. The objective of this study was to estimate the penetrance of PRRT2 and determine its influencing factors. We screened 222 PKD index patients and their available relatives, identified 39 families with pathogenic or likely pathogenic (P/LP) PRRT2 variants via Sanger sequencing, and obtained 184 PKD/BFIE/ICCA families with P/LP PRRT2 variants from the literature. Penetrance was estimated as the proportion of affected variant carriers. PRRT2 penetrance estimate was 77.6% (95% confidence interval (CI) 74.5%–80.7%) in relatives and 74.5% (95% CI 70.2%–78.8%) in obligate carriers. In addition, we first observed that penetrance was higher in truncated than in non-truncated variants (75.8% versus 50.0%, P = 0.01), higher in Asian than in Caucasian carriers (81.5% versus 68.5%, P = 0.004), and exhibited no difference in gender or parental transmission. Our results are meaningful for genetic counseling, implying that approximately three-quarters of PRRT2 variant carriers will develop PRRT2-related disorders, with patients from Asia or carrying truncated variants at a higher risk.

关键词： penetrance     PRRT2     paroxysmal kinesigenic dyskinesia     infantile convulsions    

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Anti-β glycoprotein I antibodies in complex with β2 glycoprotein I induce platelet activation via tworeceptors: apolipoprotein E receptor 2' and glycoprotein I bα

null

《医学前沿（英文）》 2016年 第10卷 第1期   页码 76-84 doi: 10.1007/s11684-015-0426-7

摘要：

Anti-β2 glycoprotein I (anti-β2GP I ) antibodies are important contributors to thrombosis, especially in patients with antiphospholipid syndrome (APS). However, the mechanism by which anti-β2GP I antibodies are involved in the pathogenesis of thrombosis is not fully understood. In this report, we investigated the role of anti-β2GP I antibodies in complexes with β2GP I as mediators of platelet activation, which can serve as a potential source contributing to thrombosis. We examined the involvement of the apolipoprotein E receptor 2' (apoER2') and glycoprotein I ba (GP I bα) in platelet activation induced by the anti-β2GP I /β2GP I complex. The interaction between the anti-β2GP I /β2GP I complex and platelets was examined using in vitro methods, in which the Fc portion of the antibody was immobilized using protein A coated onto a microtiter plate. Platelet activation was assessed by measuring GP II b/ III a activation and P-selectin expression and thromboxane B2 production as well as p38 mitogen-activated protein kinase phosphorylation. Our results revealed that the anti-β2GP I /β2GP I complex was able to activate platelets, and this activation was inhibited by either the anti-GP I bα antibody or the apoER2' inhibitor. Results showed that the anti-β2GP I /β2GP I complex induced platelet activation via GP I bα and apoER2', which may then contribute to the prothrombotic tendency in APS patients.

关键词： anti-β2GP I /β2GP I complex     platelet     GP I bα     apoER2'     thrombosis    

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SARS-CoV-2 侵入因子——<i>ACE2i> 和<i>TMPRSS2i> 在围着床期胚胎和母胎界面存在表达 Article

陈伟,袁鹏,杨铭,严智强,孔思明,严杰,柳溪溪,陈依东,乔杰,闫丽盈

《工程（英文）》 2020年 第6卷 第10期   页码 1162-1169 doi: 10.1016/j.eng.2020.07.013

摘要：

在全球肆虐的严重急性呼吸系统综合征冠状病毒2（severe acute respiratory syndrome coronavirus 2,SARS-CoV-2）导致了大量人群感染，血管紧张素转化酶2（angiotensin-converting enzyme 2, ACE2）是SARS-CoV和SARS-CoV-2的受体蛋白。然而是否存在SARS-CoV-2的垂直传播仍颇有争议。为了探讨SARS-CoV-2垂直传播的潜在风险，我们利用已发表的单细胞转录组数据观察了围着床期胚胎和母胎界面上ACE2和TMPRSS2（编码跨膜丝氨酸蛋白酶2）的转录表达情况ACE2阳性表达的STB细胞中存在明显的性别差异。

关键词： SARS-CoV-2     ACE2     垂直传播     胎盘     围着床期    

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<i>RR1i> and <i>RR2i> gene deletion affects the immunogenicity of a live attenuated pseudorabies

Shijun YAN,He YAN,Chaolin ZHANG,Tongyan WANG,Qingyuan YANG,Zhe SUN,Yan XIAO,Feifei TAN,Xiangdong LI,Kegong TIAN

《农业科学与工程前沿（英文）》 2016年 第3卷 第1期   页码 81-86 doi: 10.15302/J-FASE-2016088

摘要： As virulence-determining genes, and encode the small subunit and large subunit of viral ribonucleotide reductase (RR) in pseudorabies virus which have been extensively studied in mice. However, their role in pigs has not been adequately investigated. In this study, we deleted and genes based on a / / triple gene-deleted pseudorabies virus and tested its efficacy in pigs as a vaccine candidate. The rescued virus showed similar growth properties and plaque size as its parent strain. In an animal study, the virus could elicit humoral immune responses shown by generation of gB-specific antibodies and virus neutralizing antibodies. However, vaccination could not provide protection against virulent pseudorabies virus challenge since vaccinated pigs showed clinical pseudorabies-specific syndromes. The deficiency in protection may due to the generation of late and low levels of gB antibodies and virus neutralizing antibodies.

关键词： pseudorabies virus     RR1 and RR2     ribonucleotide reductase     vaccine candidate    

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H2 对Pt-Ba-Ce /γ-Al2O3 催化剂NO<i>xi> 存储和还原机理的影响研究 Article

王攀, 裔静, 孙川, 罗鹏, 雷利利

《工程（英文）》 2019年 第5卷 第3期   页码 568-575 doi: 10.1016/j.eng.2019.02.005

摘要：

本研究采用浸渍法制备了Pt-Ba-Ce/γ-Al2O3催化剂，利用实验评价了H2 对NSR（NOx storage and reduction）催化剂存储和还原机理的影响，并采用综合表征技术研究了Pt-Ba-Ce /γ-Al2O3x、CeO2 和BaCO3 峰很好地分散在γ-Al2O3 上，X 射线光电子能谱（XPS）检测到Ce3+ 和Ce4+ 之间的差异，Ce3+ 和Ce4+ 促进了活性氧在催化剂上的迁移。适当增加H2量加速了硝酸盐或亚硝酸盐的分解，有利于NOx 存储-还原，并促进了下一循环NSR吸附位点的再生。

关键词： Pt–Ba–Ce/γ-Al2O3 催化剂，物理化学性质，NO<i>xi>存储和还原，NO<i>xi> 排放，H2 还原剂    

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<i>Ni>-Positive ion activated rapid addition and mitochondrial targeting ratiometric fluorescent probesfor <i>in vivoi> cell H2S imaging

Yan Shi, Fangjun Huo, Yongkang Yue, Caixia Yin

《化学科学与工程前沿（英文）》 2022年 第16卷 第1期   页码 64-71 doi: 10.1007/s11705-021-2048-8

摘要： Heterocyclic compound quinoline and its derivatives exist in natural compounds and have a broad spectrum of biological activity. They play an important role in the design of new structural entities for medical applications. Similarly, indoles and their derivatives are found widely in nature. Amino acids, alkaloids and auxin are all derivatives of indoles, as are dyes, and their condensation with aldehydes makes it easy to construct reaction sites for nucleophilic addition agents. In this work, we combine these two groups organically to construct a rapid response site (within 30 s) for H S, and at the same time, a ratiometric fluorescence response is presented throughout the process of H S detection. As such, the lower detection limit can reach 55.7 nmol/L for H S. In addition, cell imaging shows that this probe can be used for the mitochondrial targeted detection of endogenous and exogenous H S. Finally, this probe application was verified by imaging H S in nude mice.

关键词： heterocyclic compound     hydrogen sulfide     ratiometric     mitochondrial targeted    

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NO<i>xi> and H2S formation in the reductive zone of air-staged combustion of

Jinzhi CAI, Dan LI, Denggao CHEN, Zhenshan LI

《能源前沿（英文）》 2021年 第15卷 第1期   页码 4-13 doi: 10.1007/s11708-020-0804-y

摘要： Low NO combustion of blended coals is widely used in coal-fired boilers in China to control NO emission; thus, it is necessary to understand the formation mechanism of NO and H S during the combustion of blended coals. This paper focused on the investigation of reductive gases in the formation of NO and H S in the reductive zone of blended coals during combustion. Experiments with Zhundong (ZD) and Commercial (GE) coal and their blends with different mixing ratios were conducted in a drop tube furnace at 1200°C–1400°C with an excessive air ratio of 0.6–1.2. The coal conversion and formation characteristics of CO, H S, and NO in the fuel-rich zone were carefully studied under different experimental conditions for different blend ratios. Blending ZD into GE was found to increase not only the coal conversion but also the concentrations of CO and H S as NO reduction accelerated. Both the CO and H S concentrations inblended coal combustion increase with an increase in the combustion temperature and a decrease in the excessive air ratio. Based on accumulated experimental data, one interesting finding was that NO and H S from blended coal combustion were almost directly dependent on the CO concentration, and the CO concentration of the blended coal combustion depended on the single char gasification conversion.Thus, CO, NO , and H S formation characteristics from blended coal combustion can be well predicted by single char gasification kinetics.

关键词： blended coal combustion     NOx formation     H2S formation     air staged combustion    

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Association of gene variants with juvenile amyotrophic lateral sclerosis

《医学前沿（英文）》 doi: 10.1007/s11684-023-1005-y

摘要： Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive degeneration of motor neurons, and it demonstrates high clinical heterogeneity and complex genetic architecture. A variation within TRMT2B (c.1356G>T; p.K452N) was identified to be associated with ALS in a family comprising two patients with juvenile ALS (JALS). Two missense variations and one splicing variation were identified in 10 patients with ALS in a cohort with 910 patients with ALS, and three more variants were identified in a public ALS database including 3317 patients with ALS. A decreased number of mitochondria, swollen mitochondria, lower expression of ND1, decreased mitochondrial complex I activities, lower mitochondrial aerobic respiration, and a high level of ROS were observed functionally in patient-originated lymphoblastoid cell lines and TRMT2B interfering HEK293 cells. Further, TRMT2B variations overexpression cells also displayed decreased ND1. In conclusion, a novel JALS-associated gene called TRMT2B was identified, thus broadening the clinical and genetic spectrum of ALS.

关键词： TRMT2B     amyotrophic lateral sclerosis     mitochondrial complex I     tRNA methylation     reactive oxygen species    

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><i>In situi> growth of phosphorized ZIF-67-derived amorphous CoP/Cu2O@CF electrocatalyst

《化学科学与工程前沿（英文）》 2023年 第17卷 第10期   页码 1430-1439 doi: 10.1007/s11705-023-2320-1

摘要： Transition metal phosphides have been extensively studied for catalytic applications in water splitting. Herein, we report an in situ phosphorization of zeolitic imidazole frameworks (ZIF-67) to generate amorphous cobalt phosphide/ZIF-67 heterojunction on a self-supporting copper foam (CF) substrate with excellent performance for hydrogen evolution reaction (HER). The needle-leaf like copper hydroxide was anchored on CF surface, which acted as implantation to grow ZIF-67. The intermediate product was phosphorized to obtain final electrocatalyst (CoP/Cu2O@CF) with uniform particle size, exhibiting a rhombic dodecahedron structure with wrinkles on the surface. The electrochemical measurement proved that CoP/Cu2O@CF catalyst exhibited excellent HER activity and long-term stability in 1.0 mol·L–1 KOH solution. The overpotential was only 62 mV with the Tafel slope of 83 mV·dec–1 at a current density of 10 mA·cm–2, with a large electrochemical active surface area. It also showed competitive performance at large current which indicated the potential application to industrial water electrolysis to produce hydrogen. First-principle calculations illustrated that benefit from the construction of CoP/ZIF-67 heterojunction, the d-band center of CoP downshifted after bonding with ZIF-67 and the Gibbs free energy (ΔGH*) changed from –0.18 to –0.11 eV, confirming both decrease in overpotential and excellent HER activity. This work illustrates the efficient HER activity of CoP/Cu2O@CF catalyst, which will act as a potential candidate for precious metal electrocatalysts.

关键词： CoP/Cu2O@CF     electrocatalyst     phosphorization     HER     DFT    

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Development of an H reduction and moderate oxidation method for 3,5-dimethylpyridine hydrogenation in trickle bed reactor

《化学科学与工程前沿（英文）》 2022年 第16卷 第12期   页码 1807-1817 doi: 10.1007/s11705-022-2243-2

摘要： The Ru/C catalyst prepared by impregnation method was used for hydrogenation of 3,5-dimethylpyridine in a trickle bed reactor. Under the same reduction conditions (300 °C in H2), the catalytic activity of the non-in-situ reduced Ru/C-n catalyst was higher than that of the in-situ reduced Ru/C-y catalyst. Therefore, an in-situ H2 reduction and moderate oxidation method was developed to increase the catalyst activity. Moreover, the influence of oxidation temperature on the developed method was investigated. The catalysts were characterized by Brunauer–Emmett–Teller method, hydrogen temperature programmed reduction H2-TPR, hydrogen temperature-programmed dispersion (H2-TPD), X-ray diffraction, energy dispersive spectroscopy, X-ray photoelectron spectroscopy, Raman spectroscopy, O2 chemisorption and oxygen temperature-programmed dispersion (O2-TPD) analyses. The results showed that there existed an optimal Ru/RuOx ratio for the catalyst, and the highest 3,5-dimethylpyridine conversion was obtained for the Ru/C-i1 catalyst prepared by in-situ H2 reduction and moderate oxidation (oxidized at 100 °C). Excessive oxidation (200 °C) resulted in a significant decrease in the Ru/RuOx ratio of the in-situ H2 reduction and moderate oxidized Ru/C-i2 catalyst, the interaction between RuOx species and the support changed, and the hard-to-reduce RuOx species was formed, leading to a significant decrease in catalyst activity. The developed in-situ H2 reduction and moderate oxidation method eliminated the step of the non-in-situ reduction of catalyst outside the trickle bed reactor.

关键词： Ru/C catalyst     in-situ H2 reduction and moderate oxidation     in-situ reduction     non-in-situ reduction     hydrogenation of 3     5-dimethylpyridine    

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Photosynthesis and related metabolic mechanism of promoted rice (<i>Oryza sativai> L.) growth by TiO2 nanoparticles

Yingdan Zhang, Na Liu, Wei Wang, Jianteng Sun, Lizhong Zhu

《环境科学与工程前沿（英文）》 2020年 第14卷 第6期 doi: 10.1007/s11783-020-1282-5

摘要： Abstract • The rice growth was promoted by nano-TiO2 of 0.1–100 mg/L. • Nano-TiO2 enhanced the energy storage in photosynthesis. • Nano-TiO2 reduced energy consumption in carbohydrate metabolism and TCA cycle. Titanium dioxide nanoparticle (nano-TiO2), as an excellent UV absorbent and photo-catalyst, has been widely applied in modern industry, thus inevitably discharged into environment. We proposed that nano-TiO2 in soil can promote crop yield through photosynthetic and metabolic disturbance, therefore, we investigated the effects of nano-TiO2 exposure on related physiologic-biochemical properties of rice (Oryza sativa L.). Results showed that rice biomass was increased >30% at every applied dosage (0.1–100 mg/L) of nano-TiO2. The actual photosynthetic rate (Y(II)) significantly increased by 10.0% and 17.2% in the treatments of 10 and 100 mg/L respectively, indicating an increased energy production from photosynthesis. Besides, non-photochemical quenching (Y(NPQ)) significantly decreased by 19.8%–26.0% of the control in all treatments respectively, representing a decline in heat dissipation. Detailed metabolism fingerprinting further revealed that a fortified transformation of monosaccharides (D-fructose, D-galactose, and D-talose) to disaccharides (D-cellobiose, and D-lactose) was accompanied with a weakened citric acid cycle, confirming the decrease of energy consumption in metabolism. All these results elucidated that nano-TiO2 promoted rice growth through the upregulation of energy storage in photosynthesis and the downregulation of energy consumption in metabolism. This study provides a mechanistic understanding of the stress-response hormesis of rice after exposure to nano-TiO2, and provides worthy information on the potential application and risk of nanomaterials in agricultural production.

关键词： Nano-TiO2     Rice     Photosynthesis     Metabolomics     Energy storage    

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富含<i>sni>-2 DHA脂质对大脑的益处及其酶法合成综述 Review

金俊, 金青哲, 王兴国, Casimir C. Akoh

《工程（英文）》 2020年 第6卷 第4期   页码 424-431 doi: 10.1016/j.eng.2020.02.009

摘要： 甘油酯sn-2位上的DHA可以被肠黏膜更好地吸收，从而实现机体对DHA的高效利用。为了全面了解DHA对大脑的有益功能，本文系统介绍了天然油脂甘油骨架上DHA的位置分布（sn-2和sn-1,3位）特征，并讨论了DHA补充和通过肠-脑轴传递信息的潜在功能机制为了在日常饮食中摄入更多的sn-2 DHA，我们建议通过更为高效和经济的酯交换制造技术生产富含sn-2 DHA脂质，其中需要解决的关键技术包括强化酶的特异性和优化纯化工艺这类饮食可满足对sn-2 关键词： DHA 和 sn-2 DHA     单甘酯     大脑     肠-脑轴     结构脂质    

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酶法合成<i>sni>-2棕榈酸甘油酯的研究进展 Review

韦伟, 孙聪, 王小三, 金青哲, Xuebing Xu, Casimir C. Akoh, 王兴国

《工程（英文）》 2020年 第6卷 第4期   页码 406-414 doi: 10.1016/j.eng.2020.02.008

摘要： HMF在甘油碳骨架sn-2位的棕榈酸（PA）含量超过70%，而在sn-1,3位高度富集多不饱和脂肪酸。研究表明，HMF中特定的TAG结构在婴儿生长过程中起重要作用。Sn-2棕榈酸甘油酯是一种结构TAG，主要由1,3-二油酸-2-棕榈酸甘油三酯组成，将其添加到婴幼儿配方奶粉中可以模拟HMF的TAG结构。本文综述了过去25年中酶法合成sn-2棕榈酸甘油酯的研究进展及其在实验室条件下的制备流程，重点分析了结构TAG合成过程中所用的商业化sn-1,3位选择性脂肪酶、TAG结构分析的常用方法，以及一些市售sn-2棕榈酸甘油酯产品。另外，本文还对酶法合成sn-2棕榈酸甘油酯的前景进行了展望。

关键词： 结构甘油三酯     棕榈酸     人乳替代脂     酶法合成反应     sn-2棕榈酸甘油酯     定量分析    

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CeO doping boosted low-temperature NH-SCR activity of FeTiO catalyst: A microstructure analysis and reaction mechanistic study

《环境科学与工程前沿（英文）》 2022年 第16卷 第5期 doi: 10.1007/s11783-022-1539-2

摘要：

• CeO2 doping significantly improved low-temperature NH3-SCR activity on FeTiOx.

关键词： NH3-SCR     CeO2 doping     Low-temperature NOx removal     Improved redox property     In situ XAFS analysis    

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Identification of genome regions and important variations associated with expression level of

Ye HOU,Lu JING,Yunxia ZHAO,Sheng WANG,An LIU,Shuhong ZHAO,Xinyun LI

《农业科学与工程前沿（英文）》 2015年 第2卷 第3期   页码 237-241 doi: 10.15302/J-FASE-2015057

摘要： Meat quality is one of the most important economic traits in pig breeding. It has been reported that the composition of type II muscle fibers is correlated with meat quality in pigs. Type II muscle fibers contain three isoforms, IIa, IIb and IIx, which contain specific myofibrillar proteins MYH2, MYH4 and MYH1, respectively. In this study, the expression levels of , , and genes in the Longissimus thoracis (LT) muscle were measured in 114 Yorkshire pigs. Further, the correlations between the expression level of genes and the meat quality traits of intramuscular fat, drip loss, water-holding capacity and postmortem pH values were analyzed. The results showed that the expression level of was positively correlated with the intramuscular fat ( = 0.20, <0.05). The expression levels of and were negatively correlated with the pH at 24 h post mortem (pH ; = －0.28, <0.01; = －0.25, <0.01, respectively). Besides, the 60K SNP chip was used for genotyping the individuals. Genome wide association analysis indicated that 15 SNPs were significantly associated with the expression levels of these three genes. The results indicated the expression levels of , and genes could be useful markers for improvement of meat quality in pigs.

关键词： pig     IMF     pH     MYH1     MYH2     MYH4    

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标题 作者 时间 类型 操作

Penetrance estimation of variants in paroxysmal kinesigenic dyskinesia and infantile convulsions

期刊论文

Anti-β glycoprotein I antibodies in complex with β2 glycoprotein I induce platelet activation via tworeceptors: apolipoprotein E receptor 2' and glycoprotein I bα

null

期刊论文

SARS-CoV-2 侵入因子——<i>ACE2i> 和<i>TMPRSS2i> 在围着床期胚胎和母胎界面存在表达

陈伟,袁鹏,杨铭,严智强,孔思明,严杰,柳溪溪,陈依东,乔杰,闫丽盈

期刊论文

<i>RR1i> and <i>RR2i> gene deletion affects the immunogenicity of a live attenuated pseudorabies

Shijun YAN,He YAN,Chaolin ZHANG,Tongyan WANG,Qingyuan YANG,Zhe SUN,Yan XIAO,Feifei TAN,Xiangdong LI,Kegong TIAN

期刊论文

H2 对Pt-Ba-Ce /γ-Al2O3 催化剂NO<i>xi> 存储和还原机理的影响研究

王攀, 裔静, 孙川, 罗鹏, 雷利利

期刊论文

<i>Ni>-Positive ion activated rapid addition and mitochondrial targeting ratiometric fluorescent probesfor <i>in vivoi> cell H2S imaging

Yan Shi, Fangjun Huo, Yongkang Yue, Caixia Yin

期刊论文

NO<i>xi> and H2S formation in the reductive zone of air-staged combustion of

Jinzhi CAI, Dan LI, Denggao CHEN, Zhenshan LI

期刊论文

Association of gene variants with juvenile amyotrophic lateral sclerosis

期刊论文

><i>In situi> growth of phosphorized ZIF-67-derived amorphous CoP/Cu2O@CF electrocatalyst

期刊论文

Development of an H reduction and moderate oxidation method for 3,5-dimethylpyridine hydrogenation in trickle bed reactor

期刊论文

Photosynthesis and related metabolic mechanism of promoted rice (<i>Oryza sativai> L.) growth by TiO2 nanoparticles

Yingdan Zhang, Na Liu, Wei Wang, Jianteng Sun, Lizhong Zhu

期刊论文

富含<i>sni>-2 DHA脂质对大脑的益处及其酶法合成综述

金俊, 金青哲, 王兴国, Casimir C. Akoh

期刊论文

酶法合成<i>sni>-2棕榈酸甘油酯的研究进展

韦伟, 孙聪, 王小三, 金青哲, Xuebing Xu, Casimir C. Akoh, 王兴国

期刊论文

CeO doping boosted low-temperature NH-SCR activity of FeTiO catalyst: A microstructure analysis and reaction mechanistic study

期刊论文

Identification of genome regions and important variations associated with expression level of

Ye HOU,Lu JING,Yunxia ZHAO,Sheng WANG,An LIU,Shuhong ZHAO,Xinyun LI

期刊论文