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Bioinformatics analyses of differentially expressed genes associated with spinal cord injury:a microarray-based analysis in a mouse model 预览
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作者 Lei Guo Jing Lv +2 位作者 Yun-Fei Huang Ding-Jun Hao Ji-Jun Liu 《中国神经再生研究:英文版》 SCIE CAS CSCD 2019年第7期1262-1270,共9页
Gene spectrum analysis has shown that gene expression and signaling pathways change dramatically after spinal cord injury,which may affect the microenvironment of the damaged site.Microarray analysis provides a new op... Gene spectrum analysis has shown that gene expression and signaling pathways change dramatically after spinal cord injury,which may affect the microenvironment of the damaged site.Microarray analysis provides a new opportunity for investigating diagnosis,treatment,and prognosis of spinal cord injury.However,differentially expressed genes are not consistent among studies,and many key genes and signaling pathways have not yet been accurately studied.GSE5296 was retrieved from the Gene Expression Omnibus DataSet.Differentially expressed genes were obtained using R/Bioconductor software(expression changed at least two-fold;P<0.05).Database for Annotation,Visualization and Integrated Discovery was used for functional annotation of differentially expressed genes and Animal Transcription Factor Database for predicting potential transcription factors.The resulting transcription regulatory protein interaction network was mapped to screen representative genes and investigate their diagnostic and therapeutic value for disease.In total,this study identified 109 genes that were upregulated and 30 that were downregulated at 0.5,4,and 24 hours,and 3,7,and 28 days after spinal cord injury.The number of downregulated genes was smaller than the number of upregulated genes at each time point.Database for Annotation,Visualization and Integrated Discovery analysis found that many inflammation-related pathways were upregulated in injured spinal cord.Additionally,expression levels of these inflammation-related genes were maintained for at least 28 days.Moreover,399 regulation modes and 77 nodes were shown in the protein-protein interaction network of upregulated differentially expressed genes.Among the 10 upregulated differentially expressed genes with the highest degrees of distribution,six genes were transcription factors.Among these transcription factors,ATF3 showed the greatest change.ATF3 was upregulated within 30 minutes,and its expression levels remained high at 28 days after spinal cord injury.These key genes screened by bioinf 展开更多
关键词 nerve REGENERATION spinal cord injury differentially expressed GENES BIOINFORMATICS ANALYSES Database for Annotation Visualization and Integrated Discovery ANALYSIS inflammation Kyoto Encyclopedia of GENES and Genomes pathway MICROARRAY transcription factors neural REGENERATION
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Exploring and Exploiting Pan-genomics for Crop Improvement
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作者 Yongfu Tao Xianrong Zhao +2 位作者 Emma Mace Robert Henry David Jordan 《分子植物:英文版》 SCIE CAS CSCD 2019年第2期156-169,共14页
Genetic variation ranging from single-nucleotide polymorphisms to large structural variants (SVs) can cause variation of gene content among individuals within the same species. There is an increasing appreciation that... Genetic variation ranging from single-nucleotide polymorphisms to large structural variants (SVs) can cause variation of gene content among individuals within the same species. There is an increasing appreciation that a single reference genome is insufficient to capture the full landscape of genetic diversity of a species. Pan-genome analysis offers a platform to evaluate the genetic diversity of a species via investigation of its entire genome repertoire. Although a recent wave of pan-genomic studies has shed new light on crop diversity and improvement using advanced sequencing technology, the potential applications of crop pan-genomics in crop improvement are yet to be fully exploited. In this review, we highlight the progress achieved in understanding crop pan?genomics, discuss biological activities that cause SVs, review important agronomical traits affected by SVs, and present our perspective on the application of pan-genomics in crop improvement. 展开更多
关键词 PAN-GENOME dispensable GENES core GENES structural VARIATION CROP improvement agronomical TRAITS
Bad蛋白磷酸化和剪切修饰对神经胶质瘤细胞凋亡的调控作用 预览
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作者 林洪 王文浩 《中国现代医学杂志》 CAS 2019年第19期58-61,共4页
Bcl-2相关死亡启动子同源基因编码蛋白Bad是线粒体凋亡通路的开关蛋白。药物处理和各种内源性信号通过改变其特殊位点的磷酸化状态和对其生化构型进行剪切修饰,实现对神经胶质瘤细胞内促凋亡或促生存信号通路的下游调控。Bad还可介导细... Bcl-2相关死亡启动子同源基因编码蛋白Bad是线粒体凋亡通路的开关蛋白。药物处理和各种内源性信号通过改变其特殊位点的磷酸化状态和对其生化构型进行剪切修饰,实现对神经胶质瘤细胞内促凋亡或促生存信号通路的下游调控。Bad还可介导细胞周期蛋白的促凋亡作用,使之与细胞周期阻滞保持一致。Bad不仅是抗胶质瘤药物的作用焦点,也是其基因治疗的理想候选物。 展开更多
关键词 BAD p53 Bcl-2 CASPASE 神经胶质瘤 凋亡
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丁苯酞对兔视网膜缺血再灌注损伤中细胞凋亡的影响 预览
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作者 张雅馨 苏杰 +3 位作者 黄帅 张新跃 刘颖 王林洪 《安徽医药》 CAS 2019年第7期1302-1306,I0001共6页
目的观察丁苯酞对兔视网膜缺血再灌注损伤(RIRI)后凋亡因子P53/Bcl-2表达的影响。方法选取新西兰白兔80只(均为雄性),采用随机数字表法分为对照组10只,RIRI组和给药组各35只,其中对照组再分为6 h、24 h两个亚组,RIRI组和给药组均再分为... 目的观察丁苯酞对兔视网膜缺血再灌注损伤(RIRI)后凋亡因子P53/Bcl-2表达的影响。方法选取新西兰白兔80只(均为雄性),采用随机数字表法分为对照组10只,RIRI组和给药组各35只,其中对照组再分为6 h、24 h两个亚组,RIRI组和给药组均再分为再灌注后1 h、6 h、12 h、24 h、48 h、72 h、7 d等7个亚组。制作兔RIRI模型的方法采用高眼压灌注法,HE染色法观察视网膜组织形态变化,免疫组化法检测P53及Bcl-2的表达,TUNEL法检测神经节细胞的凋亡。结果P53、Bcl-2及TUNEL凋亡细胞均在对照组检测到极少的表达,在RIRI组组内不同时间点的表达均为先增多后减少的趋势,24 h时达到最高峰,分别为(22.60±1.14)(P53、24 h)、(28.00±1.87)(Bcl-2,24 h)、(27.20±0.83)(凋亡,24 h),差异有统计学意义(均P<0.01);给药组最高峰出现在24 h,分别为(13.40±0.54)(P53、24 h)、(34.60±1.67)(Bcl-2,24 h)、(19.40±2.30)(凋亡,24 h),差异有统计学意义(均P<0.01)。组间比较P53及TUNEL凋亡细胞的表达各个时间点均较RIRI组明显减少(均P<0.05),Bcl-2蛋白的表达较RIRI组增多(P<0.01)。结论RIRI后行丁苯酞药物治疗可抑制视网膜神经节细胞P53的表达,增强Bcl-2的表达,减少神经节细胞的凋亡,对RIRI有一定的保护作用。 展开更多
关键词 丁苯酞 视网膜缺血再灌注 基因 P53 基因 BCL-2 凋亡
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糖尿病性白内障晶状体上皮细胞凋亡及P53、Bcl-2的表达分析 预览
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作者 王真艳 陈为民 《现代医药卫生》 2019年第8期1140-1142,共3页
目的探讨细胞凋亡与糖尿病性白内障的关系。方法选取2016年1-6月重庆医科大学附属第二医院收治的白内障住院患者59例,施行超声乳化白内障手术治疗获得晶状体前囊膜。根据临床诊断将24例糖尿病性白内障患者前囊标本设为研究组(Ⅰ组),35... 目的探讨细胞凋亡与糖尿病性白内障的关系。方法选取2016年1-6月重庆医科大学附属第二医院收治的白内障住院患者59例,施行超声乳化白内障手术治疗获得晶状体前囊膜。根据临床诊断将24例糖尿病性白内障患者前囊标本设为研究组(Ⅰ组),35例无糖尿病的年龄相关性白内障患者前囊标本设为阳性对照组(Ⅱ组),另将11例无白内障的眼创伤患者晶状体摘除前囊膜及意外死亡者囊膜标本设为阴性对照组(Ⅲ组)。采用原位细胞凋亡检测观察晶状体前囊上皮凋亡发生率,免疫组织化学检测晶体上皮细胞肿瘤抑制蛋白(P53)、原癌基因蛋白(Bcl-2)表达阳性率。结果Ⅰ组患者晶状体上皮细胞凋亡发生率、P53蛋白表达阳性率均明显高于Ⅱ、Ⅲ组,Bcl-2蛋白表达阳性率均明显低于Ⅱ、Ⅲ组,差异均有统计学意义(P<0.05)。结论糖尿病患者晶状体上皮细胞凋亡蛋白P53表达水平升高,Bcl-2蛋白表达降低,诱发了晶状体上皮细胞凋亡,可能是糖尿病白内障的主要发病因素。 展开更多
关键词 白内障 糖尿病并发症 晶体/细胞学 基因 p53 基因 BCL-2
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Comparative study of microarray and experimental data on Schwann cells in peripheral nerve degeneration and regeneration:big data analysis 预览
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作者 Ulfuara Shefa Junyang Jung 《中国神经再生研究:英文版》 SCIE CAS CSCD 2019年第6期1099-1104,共6页
A Schwann cell has regenerative capabilities and is an important cell in the peripheral nervous system.This microarray study is part of a bioinformatics study that focuses mainly on Schwann cells.Microarray data provi... A Schwann cell has regenerative capabilities and is an important cell in the peripheral nervous system.This microarray study is part of a bioinformatics study that focuses mainly on Schwann cells.Microarray data provide information on differences between microarray-based and experiment-based gene expression analyses.According to microarray data,several genes exhibit increased expression(fold change)but they are weakly expressed in experimental studies(based on morphology,protein and mRNA levels).In contrast,some genes are weakly expressed in microarray data and highly expressed in experimental studies;such genes may represent future target genes in Schwann cell studies.These studies allow us to learn about additional genes that could be used to achieve targeted results from experimental studies.In the current big data study by retrieving more than 5000 scientific articles from PubMed or NCBI,Google Scholar,and Google,1016(up-and downregulated)genes were determined to be related to Schwann cells.However,no experiment was performed in the laboratory;rather,the present study is part of a big data analysis.Our study will contribute to our understanding of Schwann cell biology by aiding in the identification of genes.Based on a comparative analysis of all microarray data,we conclude that the microarray could be a good tool for predicting the expression and intensity of different genes of interest in actual experiments. 展开更多
关键词 Schwann cells big data analysis PERIPHERAL NERVE DEGENERATION PERIPHERAL NERVE REGENERATION MICROARRAY matched GENES promising GENES gene ranking
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Origination and evolution of orphan genes and de novo genes in the genome of Caenorhabditis elegans
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作者 Wenyu Zhang Yuanxiao Gao +1 位作者 Manyuan Long Bairong Shen 《中国科学:生命科学英文版》 SCIE CAS CSCD 2019年第4期579-593,共15页
Orphan genes that lack detectable homologues in other lineages could contribute to a variety of biological functions.However,their origination and function mechanisms remain largely unknown.Herein,through a comprehens... Orphan genes that lack detectable homologues in other lineages could contribute to a variety of biological functions.However,their origination and function mechanisms remain largely unknown.Herein,through a comprehensive and systematic computational pipeline,we identified 893 orphan genes in the lineage of C.elegans,of which only a low fraction(0.9%)were derived from transposon elements.Six new protein-coding genes that de novo originated from non-coding DNA sequences in the genome of C.elegans were also identified.The authenticity and functionality of these orphan genes and de novo genes are supported by three lines of evidences,consisting of transcriptional data,and in silico proteomic data,and the fixation status data in wild populations.Orphan genes and de novo genes exhibited simple gene structures,such as,short in protein length,of fewer exons,and are frequently X-linked.RNA-seq data analysis showed these orphan genes are enriched with expression in embryo development and gonad,and their potential function in early development was further supported by gene ontology enrichment analysis results.Meanwhile,de novo genes were found to be with significant expression in gonad,and functional enrichment analysis of the co-expression genes of these de novo genes suggested they may be functionally involved in signaling transduction pathway and metabolism process.Our results presented the first systematic evidence on the evolution of orphan genes and de novo origin of genes in nematodes and their impacts on the functional and phenotypic evolution,and thus could shed new light on our appreciation of the importance of these new genes. 展开更多
关键词 CAENORHABDITIS elegans orphan GENES de novo GENES
Bioinformatic identification of key candidate genes and pathways in axon regeneration after spinal cord injury in zebrafish 预览
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作者 Jia-He Li Zhong-Ju Shi +6 位作者 Yan Li Bin Pan Shi-Yang Yuan Lin-Lin Shi Yan Hao Fu-Jiang Cao Shi-Qing Feng 《中国神经再生研究:英文版》 SCIE CAS CSCD 2020年第1期103-111,共9页
Zebrafish and human genomes are highly homologous;however,despite this genomic similarity,adult zebrafish can achieve neuronal proliferation,regeneration and functional restoration within 6–8 weeks after spinal cord ... Zebrafish and human genomes are highly homologous;however,despite this genomic similarity,adult zebrafish can achieve neuronal proliferation,regeneration and functional restoration within 6–8 weeks after spinal cord injury,whereas humans cannot.To analyze differentially expressed zebrafish genes between axon-regenerated neurons and axon-non-regenerated neurons after spinal cord injury,and to explore the key genes and pathways of axonal regeneration after spinal cord injury,microarray GSE56842 was analyzed using the online tool,GEO2R,in the Gene Expression Omnibus database.Gene ontology and protein-protein interaction networks were used to analyze the identified differentially expressed genes.Finally,we screened for genes and pathways that may play a role in spinal cord injury repair in zebrafish and mammals.A total of 636 differentially expressed genes were obtained,including 255 up-regulated and 381 down-regulated differentially expressed genes in axon-regenerated neurons.Gene Ontology and Kyoto Encyclopedia of Genes and Genomes enrichment results were also obtained.A protein-protein interaction network contained 480 node genes and 1976 node connections.We also obtained the 10 hub genes with the highest correlation and the two modules with the highest score.The results showed that spectrin may promote axonal regeneration after spinal cord injury in zebrafish.Transforming growth factor beta signaling may inhibit repair after spinal cord injury in zebrafish.Focal adhesion or tight junctions may play an important role in the migration and proliferation of some cells,such as Schwann cells or neural progenitor cells,after spinal cord injury in zebrafish.Bioinformatic analysis identified key candidate genes and pathways in axonal regeneration after spinal cord injury in zebrafish,providing targets for treatment of spinal cord injury in mammals. 展开更多
关键词 axonal regeneration differentially expressed genes focal adhesions Gene Ontology Kyoto Encyclopedia of Genes and Genomes neural regeneration protein-protein interaction network signaling pathway SPECTRIN tight junctions transforming growth factor beta Wnt signaling pathway
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应用二代测序技术检测乳腺癌易感基因BRCA1/2和TP53及PTEN胚系突变
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作者 刘畅 马寅婷 +5 位作者 卓钟灵 谢菲 孙媛媛 龙彦 王辉 赵晓涛 《中华检验医学杂志》 CAS CSCD 北大核心 2019年第2期98-103,共6页
目的研究乳腺癌易感基因BRCA1、BRCA2、TP53、PTEN在中国乳腺癌患者中发生胚系突变的情况。方法本研究为探索性研究,选择2016年1月至2018年8月就诊于北京大学人民医院乳腺外科的女性乳腺癌患者128例。其中散发乳腺癌患者44例,具有遗传... 目的研究乳腺癌易感基因BRCA1、BRCA2、TP53、PTEN在中国乳腺癌患者中发生胚系突变的情况。方法本研究为探索性研究,选择2016年1月至2018年8月就诊于北京大学人民医院乳腺外科的女性乳腺癌患者128例。其中散发乳腺癌患者44例,具有遗传性乳腺癌高危因素的乳腺癌患者84例。应用二代测序技术对患者进行BRCA1、BRCA2、TP53及PTEN 4个基因的胚系突变情况进行检测。χ^2检验分析4种基因突变携带率在散发病例及具有遗传性高危因素的乳腺癌患者之间的分布。按照患者临床特点(有无家族史、是否为三阴型乳腺癌、年龄及是否为双侧乳腺癌)进行分组,其中有明确乳腺癌家族史42例,三阴型乳腺癌34例,早发性乳腺癌33例,双侧乳腺癌7例,Fisher确切概率检验比较BRCA1/2基因致病突变与遗传性高危因素乳腺癌患者临床特征之间的关系。结果128例乳腺癌患者中,检测到BRCA1/2胚系突变30例,其中致病突变13例,3例新发突变,BRCA1:c.4760C>G、BRCA2:c.4413_4414del和BRCA2:c.6482_6485del可能为中国人群特有突变。TP53突变3例,其中1例致病突变。3例突变均为早发乳腺癌。5例PTEN突变,其中3例致病突变。在84例具有遗传性高危因素的乳腺癌患者中4种易感基因突变的患者携带率40.5%(34/84),致病突变率15.4(13/84)。44例散发病例中,携带突变率为9%(4/44)。致病突变率为6.8%(3/44)。乳腺癌易感基因在具有遗传性高风险因素的乳腺癌患者携带率更高,与散发病例人群差异存在统计学意义(P<0.001)。BRCA1/2突变在具有遗传性高风险因素的乳腺癌患者各分组中差异均无统计学意义。结论乳腺癌易感基因胚系突变检测在乳腺癌风险预测、预后评价等方面具有重要意义。 展开更多
关键词 乳腺肿瘤 高通量核苷酸序列分析 基因 BRCA1 PTEN磷酸水解酶 基因 p53 疾病遗传易感性
Distribution and removal of antibiotic resistance genes during anaerobic sludge digestion with alkaline, thermal hydrolysis and ultrasonic pretreatments
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作者 Mengli Wang Ruying Li Qing Zhao 《环境科学与工程前沿(英文)》 SCIE EI CAS CSCD 2019年第3期163-172,共10页
Sewage sludge in the wastewater treatment plants contains considerable amount of antibiotic resistance genes (ARGs). A few studies have reported that anaerobic digestion (AD) could successfully remove some ARGs from s... Sewage sludge in the wastewater treatment plants contains considerable amount of antibiotic resistance genes (ARGs). A few studies have reported that anaerobic digestion (AD) could successfully remove some ARGs from sewage sludge, but information on the fate of ARGs in sludge pretreatment-AD process is still very limited. In this study, three sludge pretreatment methods, including alkaline, thermal hydrolysis and ultrasonic pretreatments, were compared to investigate the distribution and removal of ARGs in the sludge pretreatment-AD process. Results showed that the ARGs removal efficiency of AD itself was approximately 50.77%, and if these three sludge pretreatments were applied, the total ARGs removal efficiency of the whole pretreatment-AD process could be improved up to 52.50%-75.07%. The ultrasonic pretreatment was more efficient than alkaline and thermal hydrolysis pretreatments. Although thermal hydrolysis reduced ARGs obviously, the total ARGs rebounded considerably after inoculation and were only removed slightly in the subsequent AD process. Furthermore, it was found that the total ARGs concentration significantly correlated with the amount of 16S rRNA gene during the pretreatment and AD processes, and the bacteria carrying ARGs could be mainly affiliated with Proteobacteria. 展开更多
关键词 TETRACYCLINE RESISTANCE GENES SULFONAMIDE RESISTANCE GENES 16S rRNA gene SLUDGE pretreatment ANAEROBIC SLUDGE digestion
建筑的主要基因是建材特性
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作者 吴宗桃 黄泽斌 《中外建筑》 2019年第5期67-68,共2页
近几年,建筑基因的论述多有论文发表,本文作者认为,建筑的主要基因是建材特性。本文通过对生物基因的定义与建材特性对建筑的影响进行比对,求证观点,以期帮助人们更生动直观的理解建材与建筑的关系,从而更好的服务于当代建筑事业的发展。
关键词 建筑 基因 建材特性
甜菊糖生物合成相关基因的研究进展 预览
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作者 倪洪涛 董花 周艳丽 《中国糖料》 2019年第3期70-76,共7页
甜菊糖(Steviol glycosides,SGs)中商用的蛇菊苷(Stevioside,STV)和莱鲍迪苷A(RebaudiosideA,Reb A),是经甲基赤藓糖醇(MEP)途径,由最初的物质丙酮酸和甘油醛-3-磷酸在各种酶的催化作用下,一步步先合成牻牛儿牻牛儿焦磷酸(GGPP),然后GGP... 甜菊糖(Steviol glycosides,SGs)中商用的蛇菊苷(Stevioside,STV)和莱鲍迪苷A(RebaudiosideA,Reb A),是经甲基赤藓糖醇(MEP)途径,由最初的物质丙酮酸和甘油醛-3-磷酸在各种酶的催化作用下,一步步先合成牻牛儿牻牛儿焦磷酸(GGPP),然后GGPP在几种酶基因作用下转化为甜菊醇(Steviol),之后在UDP-葡糖基转移酶(UGTs)基因的作用下形成STV和Reb A,整个过程共有15个酶基因参与。本文综述了甜叶菊中参与甜菊糖生物合成过程UDP-葡糖基转移酶等基因及其它基因的克隆、表达、调节等作用及不同外界环境条件下基因表达差异的研究进展。搞清这些酶基因的作用机理,可有意地、更好地调控甜菊糖的生产量和品质,为改善甜菊糖的生产提供参考。 展开更多
关键词 甜叶菊 甜菊糖 生物合成 基因 UDP-葡糖基转移酶
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高海拔地区藏族和汉族乳腺浸润性导管癌凋亡相关蛋白及凋亡指数的研究 预览
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作者 杨娟 李亚飞 +2 位作者 宋晓燕 袁青玲 祁玉娟 《中国现代医学杂志》 CAS 2019年第14期24-30,共7页
目的探讨世居青海的藏汉族人乳腺浸润性导管癌组织中Bcl-2、Bax及Caspase-3和凋亡指数(AI)的表达差异。方法采用免疫组织化学法检测藏族和汉族各60例乳腺浸润性导管癌中Bcl-2、Bax及Caspase-3蛋白的表达;采用原位DNA缺口末端标记法检测... 目的探讨世居青海的藏汉族人乳腺浸润性导管癌组织中Bcl-2、Bax及Caspase-3和凋亡指数(AI)的表达差异。方法采用免疫组织化学法检测藏族和汉族各60例乳腺浸润性导管癌中Bcl-2、Bax及Caspase-3蛋白的表达;采用原位DNA缺口末端标记法检测凋亡指数。结果藏族、汉族乳腺浸润性导管癌组织中Bcl-2的表达率分别为52.2%和38.3%,Bax表达率分别为76.7%和61.7%,Caspase-3表达率分别为60.0%和58.3%,藏族、汉族乳腺浸润性导管癌组织中AI阳性率分别为61.2%和60.0%,差异均无统计学意义(P>0.05)。结论世居青海的藏族和汉族乳腺浸润性导管癌组织中Bcl-2、Bax及Caspase-3的表达无差异,且乳腺浸润性导管癌组织中AI表达比较也无差异。 展开更多
关键词 乳腺肿瘤 原癌基因蛋白质Bcl-2 凋亡抑制蛋白质类 生物多样性
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肿瘤坏死因子受体相关周期性发热综合征一家系分析
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作者 李莎 欧榕琼 +3 位作者 张碧红 张燕楠 王海燕 檀卫平 《中华儿科杂志》 CAS CSCD 北大核心 2019年第6期477-482,共6页
目的分析肿瘤坏死因子受体相关周期性发热综合征(TRAPS)的临床特征和基因突变特点。方法回顾性分析1个广东普宁家系4例TRAPS患儿及其家族中3例成年患者的临床资料。采用流式细胞术检测CD4+T细胞、CD8+T细胞、B细胞、单核细胞和NK细胞水... 目的分析肿瘤坏死因子受体相关周期性发热综合征(TRAPS)的临床特征和基因突变特点。方法回顾性分析1个广东普宁家系4例TRAPS患儿及其家族中3例成年患者的临床资料。采用流式细胞术检测CD4+T细胞、CD8+T细胞、B细胞、单核细胞和NK细胞水平;采用酶联免疫吸附测定法检测肿瘤坏死因子受体(TNFR)表达水平;应用二代基因测序分析TNFRSF1A基因突变情况;通过Swiss-Model预测基因突变对TNFRSF1A蛋白三级结构的影响。结果该家系7例患者均以周期性发热为主要临床特点,有关节痛、肌痛、多浆膜炎、眶周水肿和皮疹,伴有发作期急性炎症反应物及白细胞升高。每代均有发病,男女均可受累。发病年龄为6月龄~30岁。患者血浆中的TNFR1水平为0~12.4 ng/L,家系正常成员为18.0~22.2 ng/L,血浆中TNFR2表达水平正常;患者NK细胞水平为0.070±0.034,低于家系正常成员0.152±0.122,T细胞、B细胞、单核细胞表达水平正常。基因检测提示先证者及家系中6例均存在TNFRSF1A点突变,位于外显子3:c.295T>A, p.C99S,突变体三维结构预测结果显示该位点突变导致氨基酸的侧链发生了变化,可能影响与受体的结合,进而影响功能。结论TRAPS主要临床特征包括周期性发热、关节痛、肌痛、多浆膜炎、眶周水肿和皮疹,血浆TNFR1水平显著下降及NK细胞数量减少。基因测序分析显示TNFRSF1A基因存在致病性变异。 展开更多
关键词 发热 遗传性自身炎症性疾病 基因
一例夫妻均为枫糖尿病基因携带者的多次妊娠结局报道及文献复习 预览
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作者 陈娟 张岩 +1 位作者 董渠龙 史海霞 《国际生殖健康/计划生育杂志》 CAS 2019年第4期289-292,共4页
枫糖尿病是一种临床罕见的遗传性疾病,其发病机制是由于基因异常表达导致人体支链α-酮酸脱氢酶复合体缺乏所致,多见于新生儿期或者婴儿期发病,大脑是主要受累器官,常表现为精神或者神经症状,严重者可致患儿死亡,临床治疗极为棘手,严重... 枫糖尿病是一种临床罕见的遗传性疾病,其发病机制是由于基因异常表达导致人体支链α-酮酸脱氢酶复合体缺乏所致,多见于新生儿期或者婴儿期发病,大脑是主要受累器官,常表现为精神或者神经症状,严重者可致患儿死亡,临床治疗极为棘手,严重影响着女性生殖健康结局。本文通过报道1例临床极为罕见的夫妻双方均为枫糖尿病基因携带者的多次妊娠结局,并对枫糖尿病相关文献进行复习,总结该病的病因、发病机制、临床表现、诊断和治疗等特点,以期拓宽临床医生的视野,在今后的临床工作中对该病保持高度警觉,对可疑孕产妇尽早进行基因检测并进行科学指导,以保护女性生殖健康。 展开更多
关键词 枫糖尿病 基因 妊娠结局 病例报告
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急性髓系白血病的分子靶向治疗
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作者 魏旭东 陈琳 《白血病.淋巴瘤》 CAS 2019年第1期8-11,共4页
近年来研究发现,基因改变在急性髓系白血病(AML)的诊断和预后判断中发挥至关重要的作用,同时为分子靶向治疗提供了靶点。由于传统化疗的局限性,越来越多的靶向药物进入临床或正在开展临床试验。文章就第60届美国血液学会年会报道的几种... 近年来研究发现,基因改变在急性髓系白血病(AML)的诊断和预后判断中发挥至关重要的作用,同时为分子靶向治疗提供了靶点。由于传统化疗的局限性,越来越多的靶向药物进入临床或正在开展临床试验。文章就第60届美国血液学会年会报道的几种分子靶向药物进行介绍。 展开更多
关键词 白血病 髓样 急性 基因 突变 分子靶向治疗 美国血液学会年会
长链非编码RNA HELT-3和MT1B-1在慢性心力衰竭患者外周血单个核细胞中的表达
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作者 刘淑珍 万大国 +2 位作者 马军 孙金旗 谢艳辉 《中华心力衰竭和心肌病杂志(中英文)》 2019年第1期2-7,共6页
目的 研究慢性心力衰竭(CHF)患者外周血单个核细胞(PBMC)中异常表达的长链非编码RNA(lncRNA),并验证lncRNAs和CHF的相关性.方法 心力衰竭组和健康对照组各3例分离PBMC,提取总RNA,用博奥人类lncRNA V4芯片筛选差异表达的lncRNA.从差异lnc... 目的 研究慢性心力衰竭(CHF)患者外周血单个核细胞(PBMC)中异常表达的长链非编码RNA(lncRNA),并验证lncRNAs和CHF的相关性.方法 心力衰竭组和健康对照组各3例分离PBMC,提取总RNA,用博奥人类lncRNA V4芯片筛选差异表达的lncRNA.从差异lncRNA中,选择前几位差异显著的lncRNA作为目的lncRNA.采用荧光定量PCR(qPCR)检测51例CHF患者和52例健康人表达量,对筛选出的lncRNA进行验证.结果 芯片筛选出359个上调和369个下调lncRNA,其中HELT-3、MT1B-1为CHF高表达转录本.qPCR验证发现HELT-3和MT1B-1在心力衰竭组高于健康对照组(P均<0.01),与芯片结果一致.结论 HELT-3和MT1B-1在CHF患者PBMC中的表达上调,可能成为CHF诊断的分子标记物和治疗靶点. 展开更多
关键词 心力衰竭 基因 芯片分析技术
经典骨髓增殖性肿瘤基因突变谱的研究进展及临床意义
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作者 任颜 许晶 +1 位作者 陈秀花 王宏伟 《白血病.淋巴瘤》 CAS 2019年第7期437-441,共5页
经典骨髓增殖性肿瘤(MPN)遗传学特征已经在很大程度上被阐明.文章旨在对MPN基因突变谱的研究进展作一综述,帮助临床更好地对此类患者进行分层,制定个性化的治疗策略从而实现精准医疗.
关键词 骨髓增殖性肿瘤 基因 突变
Rol genes enhance content of artemisinin and other secondary metabolites in Shennong hybrid of Artemisia annua
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作者 Sara Zafar Erum Dilshad +2 位作者 Hammad Ismail Chahat Batool Rizvi Bushra Mirza 《中草药:英文版》 CAS 2019年第2期209-215,共7页
Objective: Artemisia annua is the chief source of artemisinin, a potent antimalarial agent, in which other bioactive phytochemicals are also present. Due to low levels of bioactive compounds including artemisinin and ... Objective: Artemisia annua is the chief source of artemisinin, a potent antimalarial agent, in which other bioactive phytochemicals are also present. Due to low levels of bioactive compounds including artemisinin and flavonoids, it is necessary to increase the level of the secondary metabolites by regulating the expression of rol genes in the plant.Methods: A hybrid variety of A. annua(Hyb1209 r, Shennong) developed by the Centre for Novel Agricultural Products, University of York, UK, was selected to produce transgenics of rolB and rolC genes. Genetic transformation was carried out via Agrobacterium tumefaciens GV3101 harboring rolB and rolC genes of Agrobacterium rhizogenes cloned separately. HPLC was used for the qualitative and quantitative analysis of flavonoids and artemisinin. Furthermore, thin layer chromatography(TLC) was also used to analyze artemisinin content.Results: Comparative analysis via HPLC revealed considerable enhancement in the phytochemical content of transgenic A. annua plants as compared to the wild type plant. Transgenics of rolB gene showed an average increase of 321% in rutin, 97.2% in caffeic acid, and 218.4% in myricetin, respectively. In the case of rolC gene transgenics, an average increase of 197.5% in rutin, 76.3% in caffeic acid, and 209.3%in myricetin was observed. Transgenics of rolB and rolC genes showed a 14.3%–28.6% and 2.8%–12.7% increase in artemisinin content respectively by HPLC analysis. TLC analysis showed that an average 142.2%and 110.2% enhancement in artemisinin for rolB and rolC transgenics respectively, compared with the wild type. An enhanced production of total flavonoids(average 30.2% and 25.5% increase in rolB and rolC transgenics, respectively) and total phenolics(average 34.3% and 25.8% increase in rolB and rolC transgenics, respectively) was observed as a result of transformation. Transformed A. annua plants showed improved free radical scavenging activity(average 46.5% and 29.1% increase in rolB and rolC transgenics,respectively) and total reducing po 展开更多
关键词 ARTEMISIA annua L. ARTEMISININ genetic transformation Hyb1209r ROL GENES
杆状体肌病基因研究新进展
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作者 尹西 王振福 蒲传强 《中华神经科杂志》 CAS CSCD 北大核心 2019年第2期133-136,共4页
杆状体肌病是先天性肌病的常见类型,基因突变导致细肌丝及相关组分受累是其病因。近年来,共发现13种基因突变与该病相关。文中针对近5年新发现的6种新致病基因,从基因功能、编码蛋白、突变类型、所致杆状体肌病临床特点几个方面进行综述... 杆状体肌病是先天性肌病的常见类型,基因突变导致细肌丝及相关组分受累是其病因。近年来,共发现13种基因突变与该病相关。文中针对近5年新发现的6种新致病基因,从基因功能、编码蛋白、突变类型、所致杆状体肌病临床特点几个方面进行综述,对杆状体肌病发病机制进行进一步的探索。 展开更多
关键词 肌病 杆状体 基因
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