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662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

QU Yanchun, YANG Ze, SUN Liang, JI Linong

《医学前沿（英文）》 2008年 第2卷 第3期   页码 283-285 doi: 10.1007/s11684-008-0053-7

摘要： The aim of this paper is to report a new coding variance of the gene, a candidate for autoimmune diseases. We found the variation in two families with type 2 diabetes mellitus by D-HPLC mutation screening method and confirmed our results by direct sequencing and PCR-RFLP. Although without changing the amino acid coding, the variance may have an effect on codon usage and play a role in disease development, such as type 2 diabetes mellitus. However, we cannot define the role of this variance because the frequency of the minor allele is low in the Chinese population and no homozygote of the variance was found. More research in multiple populations will be necessary to define the role of this variance.

关键词： D-HPLC mutation     development     autoimmune     PCR-RFLP     candidate    

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Freshwater algae chemotaxonomy by high-performance liquid chromatographic (HPLC) analysis

Yansong HOU, Wei LIANG, Liping ZHANG, Shuiping CHENG, Feng HE, Zhenbin WU

《环境科学与工程前沿（英文）》 2011年 第5卷 第1期   页码 84-91 doi: 10.1007/s11783-010-0283-1

摘要： The study of community composition of algae is essential for understanding the structure and dynamics of the aquatic ecosystem and for evaluating the eutrophic level of the water body. A high-performance liquid chromatographic (HPLC) method based on a reverse-phase C nonpolar column was developed for the main algal taxa, which includes cyanophytes, bacillariophytes, euglenophytes, dinophytes, and chlorophytes. Based on the elution order using HPLC, 19 pigments were identified, and they were chlorophyllide , 19′-butanoyloxyfucoxanthin, chlorophyll + , phephorbides , peridinin, methyl-chlorophyllide , fucoxanthin, neoxanthin, violaxanthin, myxoxanthophyll, diadinoxanthin, diatoxanthin, lutein, zeaxanthin, chlorophyll allomer, chlorophyll , chlorophyll allomer, chlorophyll , and β,β-carotene. A comparison study of cell microscopic counts and accessory pigment analysis indicated that HPLC analysis could be a useful tool for monitoring phytoplankton communities and their abundance.

关键词： high-performance liquid chromatographic (HPLC)     algae     pigment     chemotaxonomy    

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Novel mutation c.1210-3C>G in with a poly-T tract of 5T affects mRNA splicing in a Chinese patient

《医学前沿（英文）》 2022年 第16卷 第1期   页码 150-155 doi: 10.1007/s11684-021-0846-5

摘要： Cystic fibrosis (CF) is a rare autosomal recessive disease with only one pathogenic gene cystic fibrosis transmembrane conductance regulator (CFTR). To identify the potential pathogenic mutations in a Chinese patient with CF, we conducted Sanger sequencing on the genomic DNA of the patient and his parents and detected all 27 coding exons of CFTR and their flanking intronic regions. The patient is a compound heterozygote of c.2909G>A, p.Gly970Asp in exon 18 and c.1210-3C>G in cis with a poly-T of 5T (T5) sequence, 3 bp upstream in intron 9. The splicing effect of c.1210-3C>G was verified via minigene assay in vitro, indicating that wild-type plasmid containing c.1210-3C together with T7 sequence produced a normal transcript and partial exon 10-skipping-transcript, whereas mutant plasmid containing c.1210-3G in cis with T5 sequence caused almost all mRNA to skip exon 10. Overall, c.1210-3C>G, the newly identified pathogenic mutation in our patient, in combination with T5 sequence in cis, affects the CFTR gene splicing and produces nearly no normal transcript in vitro. Moreover, this patient carries a p.Gly970Asp mutation, thus confirming the high-frequency of this mutation in Chinese patients with CF.

关键词： cystic fibrosis     CFTR     splicing mutation     minigene    

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AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches

null

《医学前沿（英文）》 2012年 第6卷 第3期   页码 248-262 doi: 10.1007/s11684-012-0206-6

摘要：

The AML1-ETO fusion transcription factor is generated by the t(8;21) translocation, which is present in approximately 4%–12% of adult and 12%–30% of pediatric acute myeloid leukemia (AML) patients. Both human and mouse models of AML have demonstrated that AML1-ETO is insufficient for leukemogenesis in the absence of secondary events. In this review, we discuss the pathogenetic insights that have been gained from identifying the various events that can cooperate with AML1-ETO to induce AML in vivo. We also discuss potential therapeutic strategies for t(8;21) positive AML that involve targeting the fusion protein itself, the proteins that bind to it, or the genes that it regulates. Recently published studies suggest that a targeted therapy for t(8;21) positive AML is feasible and may be coming sometime soon.

关键词： AML1-ETO     mouse model     leukemia     t(8     21)     pathway hits     mutation     hematopoiesis     Kasumi-1     CD34+    

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HPLC determination of glyoxal in aldehyde solution with 3-methyl-2-benzothiazolinone hydrazone

Yamei ZHU, Xiaoli YAO, Shaohui CHEN, Qun CUI, Haiyan WANG

《化学科学与工程前沿（英文）》 2011年 第5卷 第1期   页码 117-121 doi: 10.1007/s11705-010-0535-4

摘要： Based on the absorption property of a diazine that can be formed by reaction of glyoxal and 3-methyl-2-benzothiazolinone hydrazone (MBTH) in the Ultraviolet-visible (UV-vis) spectral region, a HPLC method was developed for the determination of glyoxal in acetaldehyde solution. Glyoxal was derivatised from MBTH and the derivatives (diazine) were analyzed by HPLC for identification and quantification. The determination was performed on a ZORBAX Eclipse XDB-C18 column (4.6 × 250 mm, 5 mm) at 35°C with an injection volume of 10 mL, using a mixture of acetonitrile-water solvent (99∶5, v∶v) as a mobile phase with a flow rate of 0.8 mL·min . The proper derivative reaction conditions were the temperature of 70°C, MBTH to carbonyl molar ratio of 12, and reaction time of 110 min. The glyoxal diazine was a yellow dye with a maximum molar absorptivity at 401 nm and its retention time was 5.2 min under optimal HPLC conditions. The standard curve for glyoxal had a strong linear relationship with a regression coefficient ( = 0.999) in the range of 0.002–0.020 g·L . The analysis of glyoxal in an oxidising solution gave accurate results with a relative standard deviation (RSD) value of 0.55%. The average relative recovery was 102%. This efficient HPLC technique is also proposed for detecting other dicarbonyl compounds besides glyoxal.

关键词： HPLC     glyoxal     3-methyl-2-benzothiazolinone hydrazone     diazine     dicarbonyl compounds    

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Mutation profiling of 16 candidate genes in

Yang Zhang, Fang Wang, Xue Chen, Wenjing Liu, Jiancheng Fang, Mingyu Wang, Wen Teng, Panxiang Cao, Hongxing Liu

《医学前沿（英文）》 2019年 第13卷 第2期   页码 229-237 doi: 10.1007/s11684-018-0616-1

摘要： This retrospective analysis aimed to investigate the mutation profile of 16 common mutated genes in acute myeloid leukemia (AML) patients. A total of 259 patients who were diagnosed of AML were enrolled in this study. Mutation profiling of 16 candidate genes were performed in bone marrow samples by using Sanger sequencing. We identified at least 1 mutation in 199 of the 259 samples (76.8%), and 2 or more mutations in 31.7% of samples. was the most common mutated gene (16.2%, 42/259), followed by (15.1%, 39/259), (14.7%, 38/259), and (13.5%, 35/259). Concurrence was observed in 97.1% of the mutated cases and in 29.6% of the double mutated cases. Distinct patterns of co-occurrence were observed for different hotspot mutations within the gene: mutations were associated with and/or mutations, whereas mutations co-occurred with mutations only. Concurrence was also observed in 86.6% of epigenetic regulation genes, most of which co-occurred with mutations. The results showed certain rules in the mutation profiling and concurrence of AML patients, which was related to the function classification of genes. Defining the mutation spectrum and mutation pattern of AML will contribute to the comprehensive assessment of patients and identification of new therapeutic targets.

关键词： leukemia     myeloid     acute     gene     mutation    

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从天然产物创制新药的发展趋势

于德泉

《中国工程科学》 1999年 第1卷 第2期   页码 87-90

摘要：

文章展望了从天然产物中创制新药的发展趋势。单味中草药有效成分的研究重点将转向瞄准质控的中药复方化学成分研究。进入21世纪，中国天然药物研究要在国际上占有重要位置，突破口便是中药复方现代化，其关键之一便是化学（有效）成分研究。从中草药中发现有效成分或先导物必须采用化学成分与生物活性研究融为一体的机制，采用高通量筛选，目标就是寻找有效成分或先导物进而创制新药。长短结合，正确处理知识创新和新药开发的关系。知识创新须体现在创制新药的应用基础研究中，是产生巨大效益的理论基础；短程开发是知识累积水平的体现，是科研经费的必要补充和保证。改革传统天然产物化学研究模式，实施以当代最先进大型谱仪为先导的天然产物研究战略。

关键词： 天然产物     创制新药     中草药化学成分     波谱技术     高效色谱与质谱联用     高效色谱与核磁共振联用    

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Experimental study and product analysis of lignocellulosic biomass hydrolysis under extremely low acids

WANG Shurong, LUO Zhongyang, CEN Kefa, ZHUANG Xinshu

《能源前沿（英文）》 2008年 第2卷 第3期   页码 268-272 doi: 10.1007/s11708-008-0046-x

摘要： Using our self-designed facility for lignocellulosic biomass hydrolysis under extremely low acid, and under the optimal reaction conditions of hemicellulose and cellulose determined by xylan and quantitative filter paper as the model, two-step dilute acid hydrolysis was carried out in detail on pine, fast-growing poplar and maize straw. The corresponding conversion ratio is 41.78%, 57.84% and 53.44% and the total reducing sugar conversion ratio is 39.28%, 42.83% and 23.82% respectively. Simultaneously, sugar component analysis of the products was performed by high performance liquid chromatography (HPLC) and monosaccharide and oligosaccharide content were compared. Finally, poplar hydrolysis residues were analyzed by proximate and ultimate analysis.

关键词： HPLC     oligosaccharide     lignocellulosic     chromatography     reducing    

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NRTIs’ effect on the sequence of mitochondrial DNA HV 2 in HIV infected patients

Ya-Song WU MD, PhD, Xin-Yue CHEN MD, Ying SHI PhD, Hao WU MD, De-Xi CHEN MD, PhD, Yu SUN MD, Fu-Jie ZHANG MD,

《医学前沿（英文）》 2010年 第4卷 第2期   页码 177-184 doi: 10.1007/s11684-010-0038-1

摘要： Potent combination antiretroviral therapy (cART) has significantly improved the life expectancy of people living with human immunodeficiency virus (HIV), but it has many side effects such as lipodystrophy (LD), hepatic steatosis, and lactic acidosis. Nucleoside reverse transcriptase inhibitors (NRTIs) could damage the mitochondria by inhibiting the human DNA polymerase gamma, leading to mtDNA deletion. However, it remains uncertain whether NRTIs could induce the hypervariable region (HV) mutations of the D loop of mitochondria in Chinese HIV/AIDS patients, and whether that effect is different between individuals with and without LD. Hereby, 30 Chinese AIDS patients who were receiving antiretroviral drugs were recruited, among which 16 had symptomatic LD and 14 did not. Blood samples were collected prior to and after 96 weeks of treatment. Total DNA was extracted from peripheral blood mononuclear cells (PBMCs). Fragments of 728 bp in length containing HV 2 were amplified by standard polymerase chain reaction (PCR). Direct DNA-sequencing analysis techniques were used to detect mitochondrial sequence variants between paired longitudinal samples. Alterations were compared with the revised Cambridge Reference Sequence (rCRS) to determine mutation or polymorphism. Results showed that two years after ART, totally seven cases exhibited sequence variations, five individuals showed 73€A→G revised variation (two with and three without LD), while two cases of LD were found to have other nucleotide alterations. There was no new alteration in individuals without LD. In conclusion, NRTIs could induce mutation of mtDNA HV 2, which might contribute to the development of LD.

关键词： nucleoside reverse transcriptase inhibitors     human immunodeficiency virus     mitochondrial DNA     D loop     mutation    

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Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation in acute myeloid leukemia

《医学前沿（英文）》 2022年 第16卷 第4期   页码 627-636 doi: 10.1007/s11684-020-0815-4

摘要： Runt-related transcription factor 1 (RUNX1) is an essential regulator of normal hematopoiesis. Its dysfunction, caused by either fusions or mutations, is frequently reported in acute myeloid leukemia (AML). However, RUNX1 mutations have been largely under-explored compared with RUNX1 fusions mainly due to their elusive genetic characteristics. Here, based on 1741 patients with AML, we report a unique expression pattern associated with RUNX1 mutations in AML. This expression pattern was coordinated by target repression and promoter hypermethylation. We first reanalyzed a joint AML cohort that consisted of three public cohorts and found that RUNX1 mutations were mainly distributed in the Runt domain and almost mutually exclusive with NPM1 mutations. Then, based on RNA-seq data from The Cancer Genome Atlas AML cohort, we developed a 300-gene signature that significantly distinguished the patients with RUNX1 mutations from those with other AML subtypes. Furthermore, we explored the mechanisms underlying this signature from the transcriptional and epigenetic levels. Using chromatin immunoprecipitation sequencing data, we found that RUNX1 target genes tended to be repressed in patients with RUNX1 mutations. Through the integration of DNA methylation array data, we illustrated that hypermethylation on the promoter regions of RUNX1-regulated genes also contributed to dysregulation in RUNX1-mutated AML. This study revealed the distinct gene expression pattern of RUNX1 mutations and the underlying mechanisms in AML development.

关键词： RUNX1     gene mutation     acute myeloid leukemia     transcriptional repression     DNA methylation    

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背包问题的混合粒子群优化算法

高尚,杨静宇

《中国工程科学》 2006年 第8卷 第11期   页码 94-98

摘要：

经典的粒子群是一个有效的寻找连续函数极值的方法，结合遗传算法的思想提出的混合粒子群算法来解决背包问题，经过比较测试，6种混合粒子群算法的效果都比较好，特别交叉策略A和变异策略C的混合粒子群算法是最好的且简单有效的算法，并成功地运用在投资问题中。对于目前还没有好的解法的组合优化问题，很容易地修改此算法就可解决。

关键词： 粒子群算法     背包问题     遗传算法     变异    

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Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

《医学前沿（英文）》   页码 957-971 doi: 10.1007/s11684-023-0988-8

摘要： Primary ciliary dyskinesia (PCD) is a congenital, motile ciliopathy with pleiotropic symptoms. Although nearly 50 causative genes have been identified, they only account for approximately 70% of definitive PCD cases. Dynein axonemal heavy chain 10 (DNAH10) encodes a subunit of the inner arm dynein heavy chain in motile cilia and sperm flagella. Based on the common axoneme structure of motile cilia and sperm flagella, DNAH10 variants are likely to cause PCD. Using exome sequencing, we identified a novel DNAH10 homozygous variant (c.589C > T, p.R197W) in a patient with PCD from a consanguineous family. The patient manifested sinusitis, bronchiectasis, situs inversus, and asthenoteratozoospermia. Immunostaining analysis showed the absence of DNAH10 and DNALI1 in the respiratory cilia, and transmission electron microscopy revealed strikingly disordered axoneme 9+2 architecture and inner dynein arm defects in the respiratory cilia and sperm flagella. Subsequently, animal models of Dnah10-knockin mice harboring missense variants and Dnah10-knockout mice recapitulated the phenotypes of PCD, including chronic respiratory infection, male infertility, and hydrocephalus. To the best of our knowledge, this study is the first to report DNAH10 deficiency related to PCD in human and mouse models, which suggests that DNAH10 recessive mutation is causative of PCD.

关键词： DNAH10     mice     motile cilia     mutation     primary ciliary dyskinesia    

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Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

null

《医学前沿（英文）》 2018年 第12卷 第3期   页码 319-323 doi: 10.1007/s11684-017-0553-4

摘要：

Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in and lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism (VTE). Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of and were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in and a short deletion variant c.572_574delAGA in . This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the and gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.

关键词： antithrombin deficiency     protein C activity     mutation     variant     venous thromboembolism     anticoagulants    

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Analysis of two new degradation products of arsenic triglutathione in aqueous solution

Feng ZHAO, Yuchen CHEN, Bin QIAO, Jing WANG, Ping NA

《化学科学与工程前沿（英文）》 2012年 第6卷 第3期   页码 292-300 doi: 10.1007/s11705-012-1208-2

摘要： Inorganic arsenicals, including arsenite (As ) and arsenate (As ), are well-known human carcinogens. Recently, studies have indicated that arsenic triglutathione (As(GS) ) is unstable in an aqueous solution. The present study was designed to evaluate the degradation mechanism of As(GS) in an aqueous solution using high-performance liquid chromatography-electrospray ionisation mass spectrometry (HPLC-ESI-MS). Based on the fragments obtained from MS and MS , we identified two new compounds: one was an isomer of glutathione (GSH), and the other was a product from the cleavage of the glutamyl of oxidised glutathione (GSSG). The isomerization of GSH resulted in the loss of its function such as detoxification of many reactive metabolites. The formation of the two new compounds affected the ratio of GSH/GSSG, and thus may affect the antioxidant and detoxification of GSH/GSSG in mammalian cells.

关键词： arsenic triglutathione     glutathione     HPLC-ESI-MS    

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使用2D、3D和4D增材制造材料开发生物植入物 Review

刘果, 何云虎, 刘朋超, 陈舟, 陈绪梁, 万镭, 李莹, 吕坚

《工程（英文）》 2020年 第6卷 第11期   页码 1232-1243 doi: 10.1016/j.eng.2020.04.015

摘要： 但是，用于制造生物植入物的3D可打印材料仍然非常有限。本研究对用于生物植入物的2D、3D AM材料进行了概述。此外，在我们团队先前开发的4D打印陶瓷前驱体及陶瓷材料的基础上，受太极思想的启发，本文提出了一种简单而新颖的软硬集成4D增材制造概念，以应用于人体系统中复杂且动态的生物结构。多材料打印技术的发展，使得人们未来可以使用2D、3D、4D AM材料开发生物植入物和软硬集成生物结构。

关键词： 生物打印     2D增材制造     3D打印     4D打印     生物植入物    

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标题 作者 时间 类型 操作

662 A/G gene variation in human tumor necrosis factor receptor superfamily, member 9 (TNFRSF9)

QU Yanchun, YANG Ze, SUN Liang, JI Linong

期刊论文

Freshwater algae chemotaxonomy by high-performance liquid chromatographic (HPLC) analysis

Yansong HOU, Wei LIANG, Liping ZHANG, Shuiping CHENG, Feng HE, Zhenbin WU

期刊论文

Novel mutation c.1210-3C>G in with a poly-T tract of 5T affects mRNA splicing in a Chinese patient

期刊论文

AML1-ETO driven acute leukemia: insights into pathogenesis and potential therapeutic approaches

null

期刊论文

HPLC determination of glyoxal in aldehyde solution with 3-methyl-2-benzothiazolinone hydrazone

Yamei ZHU, Xiaoli YAO, Shaohui CHEN, Qun CUI, Haiyan WANG

期刊论文

Mutation profiling of 16 candidate genes in

Yang Zhang, Fang Wang, Xue Chen, Wenjing Liu, Jiancheng Fang, Mingyu Wang, Wen Teng, Panxiang Cao, Hongxing Liu

期刊论文

从天然产物创制新药的发展趋势

于德泉

期刊论文

Experimental study and product analysis of lignocellulosic biomass hydrolysis under extremely low acids

WANG Shurong, LUO Zhongyang, CEN Kefa, ZHUANG Xinshu

期刊论文

NRTIs’ effect on the sequence of mitochondrial DNA HV 2 in HIV infected patients

Ya-Song WU MD, PhD, Xin-Yue CHEN MD, Ying SHI PhD, Hao WU MD, De-Xi CHEN MD, PhD, Yu SUN MD, Fu-Jie ZHANG MD,

期刊论文

Distinct gene expression pattern of mutations coordinated by target repression and promoter hypermethylation in acute myeloid leukemia

期刊论文

背包问题的混合粒子群优化算法

高尚,杨静宇

期刊论文

Dynein axonemal heavy chain 10 deficiency causes primary ciliary dyskinesia in humans and mice

期刊论文

Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report

null

期刊论文

Analysis of two new degradation products of arsenic triglutathione in aqueous solution

Feng ZHAO, Yuchen CHEN, Bin QIAO, Jing WANG, Ping NA

期刊论文

使用2D、3D和4D增材制造材料开发生物植入物

刘果, 何云虎, 刘朋超, 陈舟, 陈绪梁, 万镭, 李莹, 吕坚

期刊论文