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Polymorphism analysis of virulence-related genes among Candida tropicalis isolates
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作者 Li-Juan Zhang Shuan-Bao Yu +3 位作者 Wen-Ge Li Wen-Zhu Zhang Yuan WU Jin-Xing Lu 《中华医学杂志:英文版》 SCIE CAS CSCD 2019年第4期446-453,共8页
Background: Adhesion, biofilm formation, yeast-hyphal transition, secretion of enzymes, and hemolytic activity are all considered important factors in Candida tropicalis infection. However, DNA sequence data for this ... Background: Adhesion, biofilm formation, yeast-hyphal transition, secretion of enzymes, and hemolytic activity are all considered important factors in Candida tropicalis infection. However, DNA sequence data for this pathogen are limited. In this study, the polymorphism and heterogeneity of genes agglutinin-like sequences (ALS)2, Lipase (LIP)1, LIP4, and secretory aspartyl proteinase tropicalis (SAPT)1-4 as well as the relationship between phenotype and genotype were analyzed. Methods: This study started in August 2013, and ended in July 2017. The complete length of ALS2, LIP1, LIP4, and SAPT1-4 of 68 clinical C. tropicalis isolates was sequenced. Single nucleotide polymorphisms (SNPs) as well as insertions and deletions (indels) were identified within these genes. In addition, phenotypic characteristics of the virulent factors, including adhesion and the secretion of aspartyl proteinases and phospholipases, were determined. Results: There were 73, 24, 17, 16, 13, and 180 SNPs in the genes LIP1, LIP4, SAPT1, SAPT2, SAPT3, and SAPT4, respectively. Furthermore, 209 SNPs were identified in total for the gene ALS2. Interestingly, large fragment deletions and insertions were also found in ALS2. Isolate FXCT 01 obtained from blood had deletions on all 4 sites and showed the lowest adhesion ability on the polymethylpentene surface. In addition, isolates with deletions in the regions 1697 to 1925 and 2073 to 2272 bp displayed relatively low abilities for adhesion and biofilm formation, and this phenotype correlated with the deletions found in ALS2. LIP1, SAPT4, and ALS2 displayed great heterogeneity among the isolates. Large deletions found in gene ALS2 appeared to be associated with the low ability of adhesion and biofilm formation of C. tropicalis. Conclusion: This study might be useful for deeper explorations of gene function and studying the virulent mechanisms of C. tropicalis. 展开更多
关键词 CANDIDA TROPICALIS Virulence-related GENES PHYLOGENETIC analysis GENE ALS GENE LIP GENE SAP
Discovery of leaf region and time point related modules and genes in maize(Zea mays L.)leaves by Weighted Gene Co-expression Network analysis(WGCNA)of gene expression profiles of carbon metabolism 预览
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作者 WANG Jing-lu ZHANG Ying +3 位作者 PAN Xiao-di DU Jian-jun MA Li-ming GUO Xin-yu 《农业科学学报:英文版》 SCIE CAS CSCD 2019年第2期350-360,共11页
Maize(Zea mays L.) yield depends not only on the conversion and accumulation of carbohydrates in kernels, but also on the supply of carbohydrates by leaves. However, the carbon metabolism process in leaves can vary ac... Maize(Zea mays L.) yield depends not only on the conversion and accumulation of carbohydrates in kernels, but also on the supply of carbohydrates by leaves. However, the carbon metabolism process in leaves can vary across different leaf regions and during the day and night. Hence, we used Weighted Gene Co-expression Network analysis(WGCNA) with the gene expression profiles of carbon metabolism to identify the modules and genes that may associate with particular regions in a leaf and time of day. There were a total of 45 samples of maize leaves that were taken from three different regions of a growing maize leaf at five time points. Robust Multi-array Average analysis was used to pre-process the raw data of GSE85963(accession number), and quality control of data was based on Pearson correlation coefficients. We obtained eight co-expression network modules. The modules with the highest significance of association with LeafRegion and TimePoint were selected. Functional enrichment and gene-gene interaction analyses were conducted to acquire the hub genes and pathways in these significant modules. These results can support the findings of similar studies by providing evidence of potential module genes and enriched pathways associated with leaf development in maize. 展开更多
关键词 WGCNA MAIZE leaf GENE expression GENE MODULES PATHWAYS
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Up-regulation of a homeodomain-leucine zipper gene HD-1 contributes to trichome initiation and development in cotton 预览
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作者 NIU Er-li CAI Cai-ping +3 位作者 BAO Jiang-hao WU Shuang ZHAO Liang GUO Wang-zhen 《农业科学学报:英文版》 SCIE CAS CSCD 2019年第2期361-371,共11页
Plant trichomes originate from epidermal cells.In this work,we demonstrated that a homeodomain-leucine zipper(HD-Zip)gene,GhA06G1283(Gh HD-1A),was related to the leaf trichome trait in allotetraploid cotton and could ... Plant trichomes originate from epidermal cells.In this work,we demonstrated that a homeodomain-leucine zipper(HD-Zip)gene,GhA06G1283(Gh HD-1A),was related to the leaf trichome trait in allotetraploid cotton and could be a candidate gene for the T1 locus.The ortholog of GhHD-1A in the hairless accession Gossypium barbadense cv.Hai7124 was interrupted by a long terminal repeat(LTR)retrotransposon,while GhHD-1A worked well in the hairy accession Gossypium hirsutum acc.T586.Sequence and phylogenetic analysis showed that GhHD-1A belonged to the HD-Zip IV gene family,which mainly regulated epidermis hair development in plants.Silencing of GhHD-1A and its homoeologs GhHD-1D in allotetraploid T586and Hai7124 could significantly reduce the density of leaf hairs and affect the expression levels of other genes related to leaf trichome formation.Further analysis found that GhHD-1A mainly regulated trichome initiation on the upper epidermal hairs of leaves in cotton,while the up-regulated expression of GhHD-1A in different organs/tissues also altered epidermal trichome development.This study not only helps to unravel the important roles of GhHD-1A in regulating trichome initiation in cotton,but also provides a reference for exploring the different forms of trichome development in plants. 展开更多
关键词 leaf TRICHOME map-based cloning a homeodomain-leucine ZIPPER GENE HD-1 virus-induced GENE silencing (VIGS) functional differentiation
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2545例新生儿遗传性耳聋基因突变筛查 预览
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作者 马宁 王艳 +2 位作者 彭薇 李昊 杨晓 《中国康复理论与实践》 CSCD 北大核心 2019年第4期444-447,共4页
目的了解中国人常见遗传性耳聋基因携带率和突变谱。方法采集2018年1月至10月本院出生的2545例新生儿足跟血,微阵列芯片法对常见耳聋基因突变进行筛查。结果共发现119例新生儿携带耳聋基因突变,其中GJB2突变携带者60例(2.36%)v男女比1∶... 目的了解中国人常见遗传性耳聋基因携带率和突变谱。方法采集2018年1月至10月本院出生的2545例新生儿足跟血,微阵列芯片法对常见耳聋基因突变进行筛查。结果共发现119例新生儿携带耳聋基因突变,其中GJB2突变携带者60例(2.36%)v男女比1∶1(30/30);SLC26A4突变携带者48例(1.88%),男女比接近1∶1(26/22);线粒体12SrRNA基因突变携带者5例(0.20%);GJB3突变携带者5例(0.20%);1例有GJB2基因235位点和SLC26A4基因IVS7-2位点双杂合突变(0.04%)。另外还发现SLC26A4基因1174A>T、1229C>T和15+5G>A突变各1例。结论初步了解中国人耳聋基因位点分布,可为遗传性耳聋防控参考。 展开更多
关键词 遗传性耳聋 新生儿 基因 突变 基因芯片 筛查
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191例感音神经性耳聋患者常见耳聋基因筛查结果分析 预览
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作者 芦婷 刘艳玲 +1 位作者 马琪琪 曹丽荣 《宁夏医学杂志》 CAS 2019年第2期155-157,共3页
目的分析宁夏地区191例感音神经性耳聋患者常见耳聋基因的突变情况,为临床防聋和治聋提供参考依据。方法对宁夏地区191例感音神经性耳聋患者采用晶芯15项遗传性耳聋基因检查的试剂进行4种常见耳聋基因15个突变位点检测。结果 191例受检... 目的分析宁夏地区191例感音神经性耳聋患者常见耳聋基因的突变情况,为临床防聋和治聋提供参考依据。方法对宁夏地区191例感音神经性耳聋患者采用晶芯15项遗传性耳聋基因检查的试剂进行4种常见耳聋基因15个突变位点检测。结果 191例受检者中检出耳聋基因突变90例,检出率为47. 12%,其中GJB2基因突变34例(17. 80%,34/191),SLC26A4基因突变45例(23. 56%,45/191),线粒体12rRNA基因突变2例(1. 05%,2/191),GJB2和SLC26A4基因突变8例(4. 19%,8/191),GJB3和SLC26A4基因突变1例(0. 52%,1/191),明确诊断为遗传性耳聋60例,提示耳聋基因携带者30例。结论宁夏地区感音神经性耳聋患者耳聋基因携带率较高,主要以SLC26A4基因c. 235delC位点突变为主,其次是GJB2基因IVS7-2A> G位点突变,对高危人群进行耳聋基因突变的筛查和遗传咨询是防止和控制遗传性耳聋、优生优育的重要手段。 展开更多
关键词 耳聋 基因 遗传 基因突变
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The CRIPSR/Cas gene-editing system—an immature but useful toolkit for experimental and clinical medicine 预览
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作者 Yuyan Yang Yue Huang 《动物模型与实验医学(英文)》 CSCD 2019年第1期5-8,共4页
A Chinese scientist,Jiankui He,and his creation of the world's first genetically altered baby made headlines recently.As a newly developed gene-editing technique,the CRISPR/Cas system should not be applied to huma... A Chinese scientist,Jiankui He,and his creation of the world's first genetically altered baby made headlines recently.As a newly developed gene-editing technique,the CRISPR/Cas system should not be applied to human beings for reproductive purposes until it has been extensively tested.However,numerous experimental research studies in human somatic,germline cells,and even in embryos,have been conducted,which have shown CRISPR/Cas to be a useful tool for human genome editing and a potential therapeutic method for future clinical use. 展开更多
关键词 CRISPR-Cas GENE EDITING GENE therapy human embryos RECOMBINANT DNA
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Association of G-protein coupled purinergic receptor P2Y2 with ischemic stroke in a Han Chinese population of North China 预览
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作者 Li-Ying Yuan Zhi-Yi He +1 位作者 Lei Li Yan-Zhe Wang 《中国神经再生研究:英文版》 SCIE CAS CSCD 2019年第3期506-512,共7页
The G-protein-coupled purinergic receptor P2Y2 (P2RY2) plays an important role in the mechanism of atherosclerosis, which is relevant to ischemic stroke. This retrospective case-control study aimed to assess the relat... The G-protein-coupled purinergic receptor P2Y2 (P2RY2) plays an important role in the mechanism of atherosclerosis, which is relevant to ischemic stroke. This retrospective case-control study aimed to assess the relationship between P2RY2 gene polymorphisms and ischemic stroke risk in the northern Han Chinese population. In this study, clinical data and peripheral blood specimens were collected from 378 ischemic stroke patients and 344 controls. The ischemic stroke participants were recruited from the First Affiliated Hospital of China Medical University and the First Affiliated Hospital of Liaoning Medical University. The controls were recruited from the Health Check Center at the First Affiliated Hospital of China Medical University. Ischemic stroke patients were divided into two subgroups according to the Trial of ORG 10172 in Acute Stroke Treatment (TOAST) classification: large-artery atherosclerosis (n = 178) and small-artery occlusion (n = 200) strokes. All subjects were genotyped for three single nucleotide polymorphisms (rs4944831, rs1783596, and rs4944832) in the P2RY2 gene using peripheral venous blood samples. The distribution of the dominant rs4944832 phenotype (GG vs. GA+AA) differed significantly between small-artery occlusion patients and control subjects (odds ratio (OR) = 1.720, 95% confidence interval (CI): 1.203–2.458, P < 0.01). Multivariable logistic regression analysis revealed that the GG genotype of rs4944832 was significantly more prevalent in small-artery occlusion patients than in control subjects (OR = 1.807, 95% CI: 1.215–2.687, P < 0.01). The overall distribution of the haplotype established by rs4944831-rs1783596-rs4944832 was significantly different between ischemic stroke patients and controls (P < 0.01). In ischemic stroke patients, the frequency of the G-C-G haplotype was significantly higher than in control subjects (P = 0.028), whereas the frequency of the T-C-A haplotype was lower than in control subjects (P = 0.047). These results indicate that the G-C-G haplotype of P2R 展开更多
关键词 nerve REGENERATION P2RY2 GENE ischemic stroke single nucleotide polymorphism CASE-CONTROL study haplotype northern Han Chinese POPULATION large-artery atherosclerosis small-artery occlusion hypertension candidate GENE neural REGENERATION
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Selection of reference genes for RT-qPCR analysis of Phenacoccus solenopsis(Hemiptera:Pseudococcidae)sex-dimorphic development 预览
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作者 ZHENG Lu-ying ZHANG Zhi-jun +6 位作者 ZHANG Jin-ming LI Xiao-wei HUANG Jun LIN Wen-cai LI Wei-di LI Chuan-ren LU Yao-bin 《农业科学学报:英文版》 SCIE CAS CSCD 2019年第4期854-864,共11页
Mealybugs,such as Phenacoccus solenopsis,are highly sexually dimorphic.Winged adult males present such remarkable morphological differences from females that,to the untrained eye,conspecific adults of both sexes of P.... Mealybugs,such as Phenacoccus solenopsis,are highly sexually dimorphic.Winged adult males present such remarkable morphological differences from females that,to the untrained eye,conspecific adults of both sexes of P.solenopsis may be considered as two different insect species.A method to investigate sex-dimorphic mechanisms is by evaluating gene expression using RT-qPCR.However,the accuracy and consistency of this technique depend on the reference gene(s)selected.In this study,we analyzed the expression of 10 candidate reference genes in male and female P.solenopsis at different development stages,using common algorithms including the?Ct method,NormFinder,geNorm,BestKeeper,and a web-based analysis tool,RefFinder.The results showed that EF1-β,RP-L32 and RP-18 S were selected as the most stable genes by both the?Ct method and NormFinder;TUB-αwas the most stable gene identified by BestKeeper;and RP-L40 and RP-L32 were the most stable genes ranked by geNorm.RefFinder,a comprehensive analysis software,ranked the ten genes and determined EF1-βand RP-L32 as the most suitable reference genes for the various developmental stages in male and female P.solenopsis.Furthermore,the two most suitable reference genes were validated by examining expression of the juvenile hormone acid O-methytransferase(JHAMT)gene.Results of the validation portion of the study showed that JHAMT expression was sex-biased towards males and exhibited a dynamic and classic expression pattern among the P.solenopsis developmental stages.The results can help further our knowledge on the molecular mechanisms underlying sexual dimorphic development in P.solenopsis. 展开更多
关键词 Phenacoccus SOLENOPSIS RT-QPCR sexual dimorphic DEVELOPMENT reference GENE GENE stability
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A comparison of honeybee (Apis mellifera) queen, worker and drone larvae by RNA-Seq
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作者 Xu-Jiang He Wu-Jun Jiang +2 位作者 Mi Zhou Andrew B. Barron Zhi-Jiang Zeng 《昆虫科学:英文版》 SCIE CAS CSCD 2019年第3期499-509,共11页
Honeybees (Apis mellifera) have haplodiploid sex determination: males develop from unfertilized eggs and females develop from fertilized ones. The differences in larval food also determine the development of females. ... Honeybees (Apis mellifera) have haplodiploid sex determination: males develop from unfertilized eggs and females develop from fertilized ones. The differences in larval food also determine the development of females. Here we compared the total somatic gene expression profiles of 2-day and 4-day-old drone, queen and worker larvae by RNASeq. The results from a co-expression network analysis on all expressed genes showed that 2-day-old drone and worker larvae were closer in gene expression profiles than 2-day-old queen larvae. This indicated that for young larvae (2-day-old) environmental factors such as larval diet have a greater effect on gene expression profiles than ploidy or sex determination. Drones had the most distinct gene expression profiles at the 4-day larval stage, suggesting that haploidy, or sex dramatically affects the gene expression of honeybee larvae. Drone larvae showed fewer differences in gene expression profiles at the 2-day and 4-day time points than the worker and queen larval comparisons (598 against 1190 and 1181), suggesting a different pattern of gene expression regulation during the larval development of haploid males compared to diploid females. This study indicates that early in development the queen caste has the most distinct gene expression profile, perhaps reflecting the very rapid growth and morphological specialization of this caste compared to workers and drones. Later in development the haploid male drones have the most distinct gene expression profile, perhaps reflecting the influence of ploidy or sex determination on gene expression. 展开更多
关键词 CASTE differentiation envir on mental factors gene expression HAPLOID and DIPLOID HONEYBEES larval development
川芎嗪干预庆大霉素耳毒性作用的机理研究 预览
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作者 王晨露 王永华 +2 位作者 王一鸣 郑华平 李文靖 《中国听力语言康复科学杂志》 2019年第1期9-12,共4页
目的探讨川芎嗪(tetramethylpyrazine,TMP)对庆大霉素(gentamycin,GM)耳毒性作用的防治机理。方法将36只豚鼠随机分成生理盐水组、庆大霉素造模组、川芎嗪防治组,每组各12只。从病理层面研究,利用TUNEL法标记比较3组豚鼠耳蜗螺旋神经节(... 目的探讨川芎嗪(tetramethylpyrazine,TMP)对庆大霉素(gentamycin,GM)耳毒性作用的防治机理。方法将36只豚鼠随机分成生理盐水组、庆大霉素造模组、川芎嗪防治组,每组各12只。从病理层面研究,利用TUNEL法标记比较3组豚鼠耳蜗螺旋神经节(spiral ganglion cells,SGC)、螺旋器及侧壁(lateral wall,LW)内细胞凋亡情况。从基因水平研究,利用Real-timePCR法检测C-Jun氨基末端激酶(c-jun n-terminal kinases,JNK)的mRNA含量。从听力学角度,结合听性脑干反应(auditory brainstem response,ABR)测试观察用药前后豚鼠听力的变化。结果与川芎嗪防治组相比,庆大霉素造模组的耳蜗螺旋神经节细胞凋亡增多(P<0.05),螺旋器和侧壁细胞凋亡明显增多(P<0.001),JNK的mRNA表达明显升高(P<0.05),同时ABR阈移显著增大(P<0.01)。结论川芎嗪可明显降低庆大霉素导致的JNK转录水平上的高表达,从而有效防护庆大霉素的耳毒性,这可能是川芎嗪发挥防护作用的机制之一。 展开更多
关键词 庆大霉素 耳毒性 川芎嗪 细胞凋亡 基因
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缓激肽释放酶基因-1多态性位点rs5516与血脂异常及血脂水平的相关性研究 预览
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作者 罗晨 金永鑫 +6 位作者 刘洁琳 刘雅 陈艳语 李闯 孙东东 王佐广 温绍君 《心肺血管病杂志》 2019年第2期187-193,共7页
目的:探讨缓激肽释放酶基因-1单核苷酸多态性(SNP)位点rs5516与血脂异常及血脂水平的相关性。方法:选取于北京安贞医院体检中心及周边社区接受健康体检的无血缘关系参与者645例,详细记录研究对象的临床信息,采集静脉血后检测各项生化指... 目的:探讨缓激肽释放酶基因-1单核苷酸多态性(SNP)位点rs5516与血脂异常及血脂水平的相关性。方法:选取于北京安贞医院体检中心及周边社区接受健康体检的无血缘关系参与者645例,详细记录研究对象的临床信息,采集静脉血后检测各项生化指标,应用TaqMan荧光定量法对缓激肽释放酶基因-1 rs5516位点进行基因分型,评估该多态性位点与血脂异常发病风险的关系。结果:在rs5516与血脂异常的相关性研究中,rs5516在未患血脂异常的对照组人群中符合Hardy-Weinberg平衡。在血脂异常组中rs5516位点CC、CG、GG基因型频率分别为3.1%、38.8%、58.1%,对照组相应基因型频率分别为4.9%、29.8%、65.2%,两组基因型分布差异有统计学意义(P=0.042)。病例组中C、G等位基因频率分别为22.5%、 77.5%;对照组中C、G等位基因频率分别为19.8%、80.2%,等位基因在两组中差异无统计学意义;将CC+CG合并为C等位基因携带者后进行分析,病例组中CC+CG频率为41.9%,对照组中为34.8%,两者差异无统计学意义。在校正了可能对血脂水平产生影响的因素后,rs5516在等位基因模型、加性模型、显性模型、隐形模型、纯合子模型中均与是否患血脂异常无显著相关性。亚组分析中,基因型及等位基因频率在两组间差异均无统计学意义,多因素相关性分析,亦未见明显相关。将血脂异常细分为高TC、高TG、混合型高脂血症、低HDL-C血症后,亦未发现rs5516与各类型血脂异常有相关性。在rs5516与血脂水平的相关性研究中,各血脂指标水平在CC、CG、GG研究对象之间或C等位基因携带者(CC+CG)与GG基因型研究对象之间,差异无统计学意义,在多元线性回归分析中,经校正可能对血脂水平产生影响的因素后,各血脂指标水平也与rs5516无明显线性相关,在亚组分析中也得出同样的结果。结论:缓激肽释放酶基因-1多态性位点rs5516与血脂异常及血脂水平� 展开更多
关键词 基因 缓激肽释放酶 血脂异常 多态性 单核苷酸 病例-对照研究
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伴有血液学异常的植物固醇血症20例临床特征分析
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作者 曹丽娟 余自强 +5 位作者 江淼 白霞 苏健 戴兰 阮长耿 王兆钺 《中华医学杂志》 CAS CSCD 北大核心 2019年第16期1226-1231,共6页
目的分析伴有血液学异常的植物固醇血症患者的临床及实验室特征。方法回顾性分析2004至2017年在苏州大学附属第一医院就诊的20例植物固醇患者的临床资料,并进行外周血细胞、血脂分析、红细胞渗透脆性实验;高效液相色谱法检测血清中豆固... 目的分析伴有血液学异常的植物固醇血症患者的临床及实验室特征。方法回顾性分析2004至2017年在苏州大学附属第一医院就诊的20例植物固醇患者的临床资料,并进行外周血细胞、血脂分析、红细胞渗透脆性实验;高效液相色谱法检测血清中豆固醇、二氢胆固醇和谷固醇含量;PCR扩增先证者和家系成员ABCG5/8基因外显子及侧翼序列并结合测序分析突变情况。结果20例植物固醇患者均曾被误诊为免疫性血小板减少或Evans综合征。所有患者均有脾肿大切除史,其中17例患者以血小板减少就诊并伴有不同程度的黄褐瘤,部分患者存在肝功能异常(9例)、早发型动脉粥样硬化(5例)及关节炎(4例)等。外周血溶血检查发现红细胞脆性增加,血涂片分析发现所有患者血小板大小不等、总体偏大,口形红细胞增多。患者血清谷固醇和豆固醇含量分别为331.05(276.00,670.20)mg/L和244.60(193.78,399.40)mg/L,约为健康人的10倍及24倍。测序分析共发现了ABCG5/8基因中14种突变,2/3位ABCG5基因[(E22X)、p.(R446X)、g.ISV7+3G>A、p.(R446X)、p.(R419H)、g.ISV7+3G>A、p.(G90E)、p.(R389H)及g.7+2G>A];而1/3位ABCG8基因[p.(M614-K628del)、p.(E25X)、p.(L86P fs X185)、p.(R263Q)、p.(E500D fs X604)、p.(G674R)],其中ABCG5 p.(R446X)突变有重现性。结论血小板减少、口形红细胞增多及脾大是植物固醇血症患者特殊的临床表现,外周血小板及红细胞形态变化是该类患者典型的特征,临床确诊需进行ABCG5/8基因分析及血清植物固醇测定。 展开更多
关键词 植物甾醇类 血小板减少 异常红细胞 脾大 基因 突变
抗病毒治疗对HIV相关神经认知障碍病人脑组织基因表达谱的改变及生物信息学分析
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作者 孙娜 范颂 +3 位作者 郭亚收 刘启玲 李向文 张荣强 《中国艾滋病性病》 CAS CSCD 北大核心 2019年第1期9-13,共5页
目的分析抗病毒治疗(ART)对艾滋病病毒(HIV)相关神经认知障碍病人脑组织基因表达谱的改变及关键蛋白作用,为临床预防、早期诊断及治疗提供一定的理论参考依据。方法从美国国立生物技术信息中心(NCBI)基因芯片公共数据库中下载一组来自... 目的分析抗病毒治疗(ART)对艾滋病病毒(HIV)相关神经认知障碍病人脑组织基因表达谱的改变及关键蛋白作用,为临床预防、早期诊断及治疗提供一定的理论参考依据。方法从美国国立生物技术信息中心(NCBI)基因芯片公共数据库中下载一组来自美国纽约的HIV相关神经认知障碍(HAND)病人治疗组(11人)、未治疗组(12人)和非病人(7人)尸检脑组织基因芯片数据,将数据导入分析软件GCBI、GenClip 2.0、NetworkAnalyst、GATHER等,分析基因表达谱、蛋白-蛋白相互作用网络、分子生物学过程及基因功能,寻找ART病人的关键节点基因。结果共发现242(0.44%)个差异表达基因,其中表达上调5个,下调237个。这些差异表达基因主要涉及神经元信号传递、突触传递、细胞信号传导等生物学功能,参与钙信号通路、Wnt信号通路、牛磺酸和牛磺酸代谢、谷氨酸代谢、MAPK信号通路,基因GSK3B和PAK1对于HAND治疗效果有一定预测能力,主要参与神经系统的调节作用。结论 242个差异表达基因能简单反映出ART对病人的治疗机制,差异表达基因主要参与神经元信号传递、突触传递、细胞信号传导等生物学功能,关键基因GSK3B、PAK1对HAND的治疗有一定的预测能力,并可能受到Wnt和MAPK信号通路的调节而发挥生物学功能。 展开更多
关键词 抗反转录病毒治疗 艾滋病病毒相关神经认知障碍 基因 生物信息学
Comparison of gene expression in cynomolgus monkeys with preclinical type II diabetes induced by different high energy diets 预览
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作者 Li-Sha Jin Jun-Hua Rao +6 位作者 Li-Biao Zhang Fang Ji Yan-Chun Zhang Xiang-Fen Hao Bai-Lu Peng Xiao-Ming Liu Yun-Xiao Sun 《动物模型与实验医学(英文)》 CSCD 2019年第1期44-50,共7页
Background:C ynomolgus disease models that are similar to the preclinical stage of human type 2 diabetes mellitus(T2 DM)were established by feeding middle-aged cynomolgus monkeys different high energy diets to study t... Background:C ynomolgus disease models that are similar to the preclinical stage of human type 2 diabetes mellitus(T2 DM)were established by feeding middle-aged cynomolgus monkeys different high energy diets to study the differential expression of diabetes-related genes.Methods:A total of 36 male monkeys were randomly divided into four groups and fed human diets with high sugar,high fat,double high sugar and fat,and a normal diet.The preclinical diabetes phase was determined by monitoring the metabolic characteristic indices and the results of oral glucose tolerance tests(OGTT).The mRNA expression of 45 diabetes-related genes in peripheral blood leukocytes was analyzed using real-time PCR.Results:A total of 22,25,and 21 genes were significantly up-regulated(P<0.05)and 5,7,and 5 genes were significantly down-regulated(P<0.05)in the above three induced groups,respectively,compared with the control group.Of the 45 tested genes,the expression profiles of 21 genes were consistent.Most of the expression levels in the double high sugar-and-fat individuals were slightly lower than those in the high glucose and high fat groups,although the expression patterns of the three groups were essentially similar.Conclusion:T he different high energy diets all induced diabetes and shared some phenotypic properties with human T2 DM.Most of the expression patterns of the related genes were identical.The gene expression profiles could be used as references for the study of early diagnostic indicators and T2 DM pathogenesis. 展开更多
关键词 CYNOMOLGUS MONKEY gene expression high energy DIET PRECLINICAL phase type 2 diabetes
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甘蓝型油菜磷脂二酰甘油酰基转移酶(BnPDAT1)表达特性研究 预览
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作者 谭太龙 冯韬 +3 位作者 罗海燕 彭烨 刘睿洋 官春云 《华北农学报》 CSCD 北大核心 2019年第1期12-18,共7页
为探究甘蓝型油菜中BnaPDAT1基因表达特性与油脂合成之间的关系。选用2个含油量具有显著差异的甘蓝型油菜双低品系855(49. 72%)和868(35. 06%),以qRT-PCR方法检测BnaPDAT1各拷贝在两品系油菜中的表达规律,同时以薄层层析(TLC)和气相色谱... 为探究甘蓝型油菜中BnaPDAT1基因表达特性与油脂合成之间的关系。选用2个含油量具有显著差异的甘蓝型油菜双低品系855(49. 72%)和868(35. 06%),以qRT-PCR方法检测BnaPDAT1各拷贝在两品系油菜中的表达规律,同时以薄层层析(TLC)和气相色谱(GC)检测两品系油菜中TAG的积累规律。结果表明:授粉后种子中BnaPDAT1基因及其3个拷贝表达量均呈先升高后降低的趋势,花、叶片中均有BnaPDAT1表达,三拷贝表达存在差异,但表现整体调控的特点。两品系油菜叶(Bna A10. PDAT1除外)和授粉后20 d的种子中BnaPDAT1及其3个拷贝表达量具有极显著差异,其余各时期两品系间表达差异规律不明显,BnaPDAT1在高含油量品系855中授粉后20 d表达量为全生育期最高值(11. 100 9),是868的5. 07倍;叶中表达量8. 858 6,为868的7. 34倍,表达特性与Bna C09. PDAT1相似。两品系油菜种子TAG含量变化均呈S型,授粉20 d后油脂合成进入快速增长阶段,授粉后35 d进入缓慢增长期;授粉后30 d以前TAG含量品系间差异不大,授粉后35 d开始出现差异,授粉后40 d差异进一步扩大并趋于稳定。BnaPDAT1基因表达和种子TAG含量变化没有明显的直接关系,但高含油品系中BnaPDAT1基因表达值明显高于低含油品系。 展开更多
关键词 甘蓝型油菜 磷脂二酰甘油酰基转移酶(BnaPDAT1) 基因 表达特性
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Current therapies and novel approaches for biliary diseases 预览
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作者 Indu G Rajapaksha Peter W Angus Chandana B Herath 《世界胃肠病理生理学杂志:英文版(电子版)》 2019年第1期1-10,共10页
Chronic liver diseases that inevitably lead to hepatic fibrosis, cirrhosis and/or hepatocellular carcinoma have become a major cause of illness and death worldwide. Among them, cholangiopathies or cholestatic liver di... Chronic liver diseases that inevitably lead to hepatic fibrosis, cirrhosis and/or hepatocellular carcinoma have become a major cause of illness and death worldwide. Among them, cholangiopathies or cholestatic liver diseases comprise a large group of conditions in which injury is primarily focused on the biliary system. These include congenital diseases (such as biliary atresia and cystic fibrosis), acquired diseases (such as primary sclerosing cholangitis and primary biliary cirrhosis), and those that arise from secondary damage to the biliary tree from obstruction, cholangitis or ischaemia. These conditions are associated with a specific pattern of chronic liver injury centered on damaged bile ducts that drive the development of peribiliary fibrosis and, ultimately, biliary cirrhosis and liver failure. For most, there is no established medical therapy and, hence, these diseases remain one of the most important indications for liver transplantation. As a result, there is a major need to develop new therapies that can prevent the development of chronic biliary injury and fibrosis. This mini-review briefly discusses the pathophysiology of liver fibrosis and its progression to cirrhosis. We make a special emphasis on biliary fibrosis and current therapeutic options, such as angiotensin converting enzyme-2 (known as ACE2) over-expression in the diseased liver as a novel potential therapy to treat this condition. 展开更多
关键词 Chronic liver disease BILIARY FIBROSIS CURRENT THERAPIES for BILIARY FIBROSIS ANGIOTENSIN CONVERTING enzyme-2 Gene therapy
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A novel phenotype with splicing mutation identified in a Chinese family with desminopathy
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作者 Peng Fan Chao-Xia Lu +12 位作者 Xue-Qi Dong Di Zhu Kun-Qi Yang Ke-Qiang Liu Di Zhang Ying Zhang Xu Meng Hui-Qiong Tan Li-Tian YU Ke-Fei DOU Ya-Xin Liu Xue Zhang Xian-Liang Zhou 《中华医学杂志:英文版》 SCIE CAS CSCD 2019年第2期127-134,共8页
Background:Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations.Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy... Background:Desminopathy, a hereditary myofibrillar myopathy, mainly results from the desmin gene (DES) mutations.Desminopathy involves various phenotypes, mainly including different cardiomyopathies, skeletal myopathy, and arrhythmia.Combined with genotype, it helps us precisely diagnose and treat for desminopathy.Methods:Sanger sequencing was used to characterize DES variation, and then a minigene assay was used to verify the effect of splice-site mutation on pre-mRNA splicing.Phenotypes were analyzed based on clinical characteristics associated with desminopathy.Results:A splicing mutation (c.735+1G>T) in DES was detected in the proband.A minigene assay revealed skipping of the whole exon 3 and transcription of abnormal pre-mRNA lacking 32 codons.Another affected family member who carried the identical mutation, was identified with a novel phenotype of desminopathy, non-compaction of ventricular myocardium.There were 2 different phenotypes varied in cardiomyopathy and skeletal myopathy among the 2 patients, but no significant correlation between genotype and phenotype was identified.Conclusions:We reported a novel phenotype with a splicing mutation in DES, enlarging the spectrum of phenotype in desminopathy.Molecular studies of desminopathy should promote our understanding of its pathogenesis and provide a precise molecular diagnosis of this disorder, facilitating clinical prevention and treatment at an early stage. 展开更多
关键词 Desminopathy CARDIOMYOPATHY DESMIN GENE SPLICING MUTATION
New findings showing how DNA methylation influences diseases 预览
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作者 Fabio Sallustio Loreto Gesualdo Anna Gallone 《世界生物化学杂志:英文版(电子版)》 2019年第1期1-6,共6页
In 1975,Holliday and Pugh as well as Riggs independently hypothesized that DNA methylation in eukaryotes could act as a hereditary regulation mechanism that influences gene expression and cell differentiation.Interest... In 1975,Holliday and Pugh as well as Riggs independently hypothesized that DNA methylation in eukaryotes could act as a hereditary regulation mechanism that influences gene expression and cell differentiation.Interest in the study of epigenetic processes has been inspired by their reversibility as well as their potentially preventable or treatable consequences.Recently,we have begun to understand that the features of DNA methylation are not the same for all cells.Major differences have been found between differentiated cells and stem cells.Methylation influences various pathologies,and it is very important to improve the understanding of the pathogenic mechanisms.Epigenetic modifications may take place throughout life and have been related to cancer,brain aging,memory disturbances,changes in synaptic plasticity,and neurodegenerative diseases,such as Parkinson’s disease and Huntington’s disease.DNA methylation also has a very important role in tumor biology.Many oncogenes are activated by mutations in carcinogenesis.However,many genes with tumor-suppressor functions are“silenced”by the methylation of CpG sites in some of their regions.Moreover,the role of epigenetic alterations has been demonstrated in neurological diseases.In neuronal precursors,many genes associated with development and differentiation are silenced by CpG methylation.In addition,recent studies show that DNA methylation can also influence diseases that do not appear to be related to the environment,such as IgA nephropathy,thus affecting the expression of some genes involved in the T-cell receptor signaling.In conclusion,DNA methylation provides a whole series of fundamental information for the cell to regulate gene expression,including how and when the genes are read,and it does not depend on the DNA sequence. 展开更多
关键词 DNA METHYLATION Stem cells ENHANCER IGA NEPHROPATHY Gene regulation
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骨肉瘤患者的个体化疗与药敏相关基因的临床研究
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作者 龙作尧 鲁亚杰 +2 位作者 李明辉 肖鑫 王臻 《中国骨与关节杂志》 CAS 2019年第3期229-234,共6页
目的探讨基因化疗敏感性与化疗结局之间的关系。方法纳入我院2011年1月1日至2017年12月31日38例,平均年龄16.32岁,男18例,女20例。病变部位:股骨远端25例,胫骨近端9例,肱骨远端2例,髋骨1例,锁骨远端1例,均为普通型骨肉瘤。通过实时PCR和... 目的探讨基因化疗敏感性与化疗结局之间的关系。方法纳入我院2011年1月1日至2017年12月31日38例,平均年龄16.32岁,男18例,女20例。病变部位:股骨远端25例,胫骨近端9例,肱骨远端2例,髋骨1例,锁骨远端1例,均为普通型骨肉瘤。通过实时PCR和DNA测序,确定患者化疗前样本中化疗相关基因突变和表达程度。检测的基因包括异环磷酰胺相关基因CYP2C9*3,铂类相关基因ERCC1、BRCA1、XRCC1、GSTP1、MRP2和阿霉素相关基因TOP2A、ABCB1、GSTM1、GSTT1等。对PCR和测序结果进行系统性分析来评估患者对化疗药物的敏感性。患者均行异环磷酰胺+铂类+阿霉素化疗方案,通过疼痛、肿瘤大小、肿瘤边界及肿瘤内部是否出现钙化灶评估临床化疗效果。结果个体新辅助化疗结果显示化疗有效率63.2%(24/38)。基因检测分析显示,异环磷酰胺敏感率89.5%(34/38),铂类敏感率81.6%(31/38),阿霉素敏感率57.9%(22/38);基因敏感性中,仅对一种药敏感的患者化疗有效率为0%(0/3),对任意两种药敏感的患者有效率为70%(14/20),三药敏感者有效率为66.7%(10/15)。结论多种化疗药物敏感的患者,其化疗有效率明显高于仅对一种药敏感的患者。但是对于敏感性较差患者的化疗方案该如何调整,还有待后续研究。而且需要通过对更大样本结果的分析来提高研究结果的可信度。 展开更多
关键词 骨肉瘤 放化疗 辅助 药物疗法 基因
芥菜型油菜硫代葡萄糖苷基因的研究进展 预览
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作者 燕孟娇 宋培玲 +7 位作者 皇甫海燕 郝丽芬 郭晨 皇甫九茹 贾晓清 吴晶 史志丹 李子钦 《北方农业学报》 2019年第1期33-41,共9页
硫代葡萄糖苷(简称硫苷)是芥菜型油菜的一类重要次级代谢产物,在植物防御、风味、抗癌等方面有重要作用。但过量的硫苷及其衍生物产生的有毒成分会限制油菜的合理利用。近年来随着对模式植物拟南芥中硫苷合成途径的深入研究,以及芥菜型... 硫代葡萄糖苷(简称硫苷)是芥菜型油菜的一类重要次级代谢产物,在植物防御、风味、抗癌等方面有重要作用。但过量的硫苷及其衍生物产生的有毒成分会限制油菜的合理利用。近年来随着对模式植物拟南芥中硫苷合成途径的深入研究,以及芥菜型油菜基因组测序的完成,通过突变硫苷合成途径的MYB、CYP79、CYP83、GTR等相关基因家族来降低硫苷含量已成为研究热点。该文章就硫苷的生物学功能、拟南芥中合成与调节相关基因,以及芥菜型油菜已有的降低硫苷含量的研究进行综述。 展开更多
关键词 芥菜型油菜 拟南芥 硫代葡萄糖苷 种子 基因
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