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The gene expression patterns of BMPR2,EP300,TGFβ2,and TNFAIP3 in B-Lymphoma cells 被引量:1
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作者 Dong-Mei He Hong Wu +3 位作者 Xiu-Li Wu Li Ding Ling Xu Yang-Qiu Li 《Cancer Biology & Medicine》 SCIE CAS CSCD 2014年第3期202-207,共6页
Objective: The results of a previous study showed that a clear dysregulation was evident in the global gene expression of the BCL11A-suppressed B-lymphoma cells. In this study, the bone morphogenetic protein receptor,... Objective: The results of a previous study showed that a clear dysregulation was evident in the global gene expression of the BCL11A-suppressed B-lymphoma cells. In this study, the bone morphogenetic protein receptor, type II(BMPR2), E1 A binding protein p300(EP300), transforming growth factor-β2(TGFβ2), and tumor necrosis factor, and alpha-induced protein 3(TNFAIP3) gene expression patterns in B-cell malignancies were studied. Methods: The relative expression levels of BMPR2, EP300, TGFβ2, and TNFAIP3 mRNA in B-lymphoma cell lines, myeloid cell lines, as well as in cells from healthy volunteers, were determined by real-time quantitative reverse transcriptpolymerase chain reaction(qRT-PCR) with SYBR Green Dye. Glyceraldehyde-3-phosphate dehydrogenase(GAPDH) was used as reference. Results: The expression level of TGFβ2 mRNA in B-lymphoma cell lines was significantly higher than those in the cells from the healthy control(P<0.05). However, the expression level of TNFAIP3 mRNA in B-malignant cells was significantly lower than that of the healthy control(P<0.05). The expression levels of BMPR2 and EP300 mRNA showed no significant difference between B-malignant cell lines and the healthy group(P>0.05). In B-lymphoma cell lines, correlation analyses revealed that the expression of BMPR2 and TNFAIP3(r=0.882, P=0.04) had significant positive relation. The expression levels of BMPR2, EP300, and TNFAIP3 mRNA in cell lines from myeloid leukemia were significantly lower than those in the cells from the healthy control(P<0.05). The expression levels of TGFβ2 mRNA showed no significant difference between myeloid leukemia cell lines and the healthy control or B-malignant cell lines(P>0.05). The expression levels of BMPR2, EP300, and TNFAIP3 mRNA in B-lymphoma cells were significantly higher than those of the myeloid leukemia cells(P<0.05).Conclusion: Different expression patterns of BMPR2, EP300, TGFβ2, and TNFAIP3 genes in B-lymphoma cells exist. 展开更多
关键词 Bone morphogenetic protein receptor type II(BMPR2) E1A binding protein p300(EP300) transforming growth factor-β2(TGFβ2) tumor necrosis factor and alpha-induced protein 3(tnfaip3 B-lymphoma cells myeloid leukemia cells quantitative reverse transcription polymerase chain reaction(qRT-PCR)
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来那度胺对过表达TNFAIP3/A20基因后的弥漫性大B细胞淋巴瘤细胞活性变化影响的机制研究
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作者 徐丹 徐睿欢 杨文秀 《现代肿瘤医学》 CAS 2024年第8期1429-1434,共6页
目的:通过来那度胺处理过表达TNFAIP3/A20基因后的弥漫性大B细胞淋巴瘤(DLBCL)细胞系OCI-LY3,检测该处理后细胞系的变化及与RNF138、MYD88、p65表达的关系,探讨增强来那度胺治疗DLBCL疗效的可能新靶标。方法:Sanger法测定DLBCL细胞系MY... 目的:通过来那度胺处理过表达TNFAIP3/A20基因后的弥漫性大B细胞淋巴瘤(DLBCL)细胞系OCI-LY3,检测该处理后细胞系的变化及与RNF138、MYD88、p65表达的关系,探讨增强来那度胺治疗DLBCL疗效的可能新靶标。方法:Sanger法测定DLBCL细胞系MYD88突变;CCK-8法测定来那度胺对OCI-LY3细胞增殖活性的影响,筛选细胞IC50;制备TNFAIP3/A20过表达质粒和慢病毒,转染OCI-LY3,得到TNFAIP3/A20基因高表达稳转细胞株OCI-LY3-A20;来那度胺(浓度为367μmol/L)处理OCI-LY3-A20,CCK-8检测用药前后细胞增殖活性的变化,Western blot检测TNFAIP3/A20、p65、RNF138、MYD88蛋白的表达。结果:来那度胺处理OCI-LY3-A20引起细胞内TNFAIP3/A20蛋白表达降低。OCI-LY3-A20中加入来那度胺进一步检测其增殖活性,OCI-LY3-A20较OCI-LY3-MCS(阴性对照病毒组)增殖活性降低;OCI-LY3-A20-Len(即加入来那度胺处理)较OCI-LY3-A20-NC(即未加入来那度胺处理)、OCI-LY3-MCS-Len增殖活性降低。比较OCI-LY3-MCS-NC组、OCI-LY3-MCS-Len组、OCI-LY3-A20-NC组和OCI-LY3-A20-Len组培养细胞蛋白表达水平,其结果表明TNFAIP3/A20、RNF138及MYD88蛋白表达相关,它们可能是影响OCI-LY3细胞增殖活性的重要靶点分子,在临床上具有潜在的治疗价值。结论:NF-κB抑制不是来那度胺发挥作用的主要机制,TNFAIP3/A20可能是来那度胺发挥作用的重要靶点分子,且RNF138及MYD88蛋白参与其中,是潜在的治疗靶点,具有重要临床诊疗价值。 展开更多
关键词 淋巴瘤 来那度胺 过表达 tnfaip3/A20 MYD88
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Heat-inducible SlWRKY3 confers thermotolerance by activating the SlGRXS1 gene cluster in tomato
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作者 Ying Wang Wenxian Gai +9 位作者 Liangdan Yuan Lele Shang Fangman Li Zhao Gong Pingfei Ge Yaru Wang Jinbao Tao Xingyu Zhang Haiqiang Dong Yuyang Zhang 《Horticultural Plant Journal》 SCIE CAS CSCD 2024年第2期515-531,共17页
High temperature stress is one of the major environmental factors that affect the growth and development of plants. Although WRKY transcription factors play a critical role in stress responses, there are few studies o... High temperature stress is one of the major environmental factors that affect the growth and development of plants. Although WRKY transcription factors play a critical role in stress responses, there are few studies on the regulation of heat stress by WRKY transcription factors,especially in tomato. Here, we identified a group I WRKY transcription factor, SlWRKY3, involved in thermotolerance in tomato. First, SlWRKY3 was induced and upregulated under heat stress. Accordingly, overexpression of SlWRKY3 led to an increase, whereas knock-out of SlWRKY3 resulted in decreased tolerance to heat stress. Overexpression of SlWRKY3 accumulated less reactive oxygen species(ROS), whereas knock-out of SlWRKY3 accumulated more ROS under heat stress. This indicated that SlWRKY3 positively regulates heat stress in tomato. In addition,SlWRKY3 activated the expression of a range of abiotic stress-responsive genes involved in ROS scavenging, such as a SlGRXS1 gene cluster.Further analysis showed that SlWRKY3 can bind to the promoters of the SlGRXS1 gene cluster and activate their expression. Collectively, these results imply that SlWRKY3 is a positive regulator of thermotolerance through direct binding to the promoters of the SlGRXS1 gene cluster and activating their expression and ROS scavenging. 展开更多
关键词 TOMATO WRKY transcription factor SlWRKY3 THERMOTOLERANCE SlGRXS1 gene cluster Abiotic stress
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Changes of chlorogenic acid content and its synthesis-associated genes expression in Xuehua pear fruit during development 被引量:14
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作者 HE Jin-gang CHENG Yu-dou +2 位作者 GUAN Jun-feng GE Wen-ya ZHAO Zhe 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2017年第2期471-477,共7页
According to synthetic pathway of plant chlorogenic acid (CGA), the expression patterns of genes encoding enzymes that are associated with CGA synthesis were studied in normally developed Xuehua pear fruit. The stud... According to synthetic pathway of plant chlorogenic acid (CGA), the expression patterns of genes encoding enzymes that are associated with CGA synthesis were studied in normally developed Xuehua pear fruit. The study demonstrated that CGA content in peel and flesh of Xuehua pear decreased as fruit development progressed, with a higher level in peel. The expression levels of PbPAL 1, PbPAL2, PbC3H, PbC4H, Pb4CL 1, Pb4CL2, Pb4CL6, PbHC T1 and PbHC T3 genes decreased in fruit, which was consistent with the pattern of variation in CGA content. That indicated that these genes might be key genes for influencing fruit CGA synthesis in Xuehua pear. However, Pb4CL7 gene expression profile is not consistent with variation of CGA content, hence, it may not be a key gene involved in CGA synthesis. 展开更多
关键词 cinnamate 4-hydroxylase gene hydroxy cinnamoyl CoA shikimate/quinic acid hydroxycinnamoyl transferasegene p-coumarate 3'-hydroxylase gene 4-hydroxycinnamoyl-CoA ligase gene phenylalanine ammonia lyasegene Xuehua pear
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TNFAIP3在透明细胞肾细胞癌中的表达及临床意义 被引量:3
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作者 周彩婷 韩微 +4 位作者 马怡君 丁冬 戚庭月 杨艳 王磊 《现代肿瘤医学》 CAS 北大核心 2023年第6期1094-1098,共5页
目的:探讨TNFAIP3在透明细胞肾细胞癌(clear cell renal cell carcinoma, ccRCC)中的表达情况,并分析其表达与患者临床病理特征的相关性。方法:利用GEPIA2数据库分析TNFAIP3在ccRCC组织和正常肾脏组织中的差异表达,收集具备完整临床资料... 目的:探讨TNFAIP3在透明细胞肾细胞癌(clear cell renal cell carcinoma, ccRCC)中的表达情况,并分析其表达与患者临床病理特征的相关性。方法:利用GEPIA2数据库分析TNFAIP3在ccRCC组织和正常肾脏组织中的差异表达,收集具备完整临床资料的97例ccRCC组织及对应的癌旁正常肾脏组织,采用免疫组织化学EnVision两步法检测TNFAIP3蛋白在ccRCC组织及对应癌旁正常肾脏组织中的表达,分析TNFAIP3蛋白的表达情况与患者年龄、性别、WHO/ISUP分级、肿瘤最大径及TNM分期等临床病理特征的关系。结果:GEPIA2数据库分析显示,与正常肾脏组织相比TNFAIP3在ccRCC组织中呈高表达(P<0.05),但TNFAIP3高表达ccRCC患者总生存时间和无瘤生存时间均显著高于TNFAIP3低表达ccRCC患者(P<0.05);TNFAIP3免疫组化检测证实,TNFAIP3在ccRCC组织中呈淡黄至棕褐色表达于细胞膜和细胞质,在ccRCC组织中高表达比例明显高于癌旁正常肾脏组织(P<0.05),TNFAIP3表达水平与ccRCC组织的WHO/ISUP肾细胞癌分级、肿瘤最大径、TNM分期、有无淋巴结转移临床参数有关(P<0.05),TNFAIP3高表达则提示较好的预后。结论:ccRCC组织中TNFAIP3的表达明显升高,而TNFAIP3高表达的ccRCC患者总生存期和无瘤生存期均好于TNFAIP3低表达的ccRCC患者,TNFAIP3参与ccRCC增殖、转移中的作用方式与分子调控机制则待进一步研究。 展开更多
关键词 tnfaip3 透明细胞肾细胞癌 生物标志物 预后评估
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Impact of Pitx3 gene knockdown on glial cell line-derived neurotrophic factor transcriptional activity in dopaminergic neurons 被引量:1
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作者 Jing Chen Xiao-yu Kang +1 位作者 Chuan-xi Tang Dian-shuai Gao 《Neural Regeneration Research》 SCIE CAS CSCD 2017年第8期1347-1351,共5页
Pitx3 is strongly associated with the phenotype, differentiation, and survival of dopaminergic neurons. The relationship between Pitx3 and glial cell line-derived neurotrophic factor(GDNF) in dopaminergic neurons re... Pitx3 is strongly associated with the phenotype, differentiation, and survival of dopaminergic neurons. The relationship between Pitx3 and glial cell line-derived neurotrophic factor(GDNF) in dopaminergic neurons remains poorly understood. The present investigation sought to construct and screen a lentivirus expression plasmid carrying a rat Pitx3 short hairpin(sh)RNA and to assess the impact of Pitx3 gene knockdown on GDNF transcriptional activity in MES23.5 dopaminergic neurons. Three pairs of interference sequences were designed and separately ligated into GV102 expression vectors. These recombinant plasmids were transfected into MES23.5 cells and western blot assays were performed to detect Pitx3 protein expression. Finally, the most effective Pitx3 sh RNA and a dual-luciferase reporter gene plasmid carrying the GDNF promoter region(GDNF-luciferase) were cotransfected into MES23.5 cells. Sequencing showed that the synthesized sequences were identical to the three Pitx3 interference sequences. Inverted fluorescence microscopy revealed that the lentivirus expression plasmids carrying Pitx3-sh RNA had 40-50% transfection efficiency. Western blot assay confirmed that the corresponding Pitx3 of the third knockdown sequence had the lowest expression level. Dual-luciferase reporter gene results showed that the GDNF transcriptional activity in dopaminergic cells cotransfected with both plasmids was decreased compared with those transfected with GDNF-luciferase alone. Together, the results showed that the designed Pitx3-sh RNA interference sequence decreased Pitx3 protein expression, which decreased GDNF transcriptional activity. 展开更多
关键词 nerve regeneration NEURODEgeneRATION Parkinson's disease glial cell line-derived neurotrophic .factor Pitx3 MES23.5 cells shorthairpin RNA gene knockdown PLASMID dual-luciferase reporter gene neural regeneration
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The Alzheimer's disease-associated gene TREML2 modulates inflammation by regulating microglia polarization and NLRP3 inflammasome activation 被引量:9
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作者 Si-Yu Wang Xin-Xin Fu +6 位作者 Rui Duan Bin Wei Hai-Ming Cao Yan E Shuai-Yu Chen Ying-Dong Zhang Teng Jiang 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第2期434-438,共5页
Triggering receptor expressed on myeloid cells-like 2(TREML2)is a newly identified susceptibility gene for Alzheimer's disease(AD).It encodes a microglial inflammation-associated receptor.To date,the potential rol... Triggering receptor expressed on myeloid cells-like 2(TREML2)is a newly identified susceptibility gene for Alzheimer's disease(AD).It encodes a microglial inflammation-associated receptor.To date,the potential role of mic roglial TREML2 in neuroinflammation in the context of AD remains unclear.In this study,APP/PS1 mice were used to investigate the dynamic changes of TREML2 levels in brain during AD progression.In addition,lipopolysaccharide(LPS)stimulation of primary microglia as well as a lentivirus-mediated TREML2 overexpression and knockdown were employed to explore the role of TREML2 in neuroinflammation in the context of AD.Our res ults show that TREML2 levels gradually increased in the brains of AP P/PS1 mice during disease progression.LPS stimulation of primary microglia led to the release of inflammato ry cytokines including interleukin-1β,inte rleukin-6,and tumor necrosis factor-a in the culture medium.The LPS-induced mic roglial release of inflammatory cytokines was enhanced by TREML2 overexpression and was attenuated by TREML2 knoc kdown.LPS increased the levels of mic roglial M1-type polarization marker inducible nitric oxide synthase.This effect was enhanced by TREML2 overexpression and ameliorated by TREML2 knockdown.Furthermore,the levels of microglial M2-type polarization markers CD206 and ARG1 in the primary microglia were reduced by TREML2 overexpression and elevated by TREML2 knockdown.LPS stimulation increased the levels of NLRP3 in primary microglia.The LPS-induced increase in NLRP3 was further elevated by TREML2 overexpression and alleviated by TREML2 knockdown.In summary,this study provides the first evidence that TREML2 modulates inflammation by regulating microglial polarization and NLRP3 inflammasome activation.These findings reveal the mechanisms by which TREML2 regulates microglial inflammation and suggest that TREML2 inhibition may represent a novel therapeutic strategy for AD. 展开更多
关键词 Alzheimer's disease APP/PS1 mice inflammatory cytokine lipopolysaccharide MICROGLIA NEUROINFLAMMATION NLRP3 inflammasome POLARIZATION susceptibility gene TREML2
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Identification of KASP markers and putative genes for pre-harvest sprouting resistance in common wheat(Triticum aestivum L.) 被引量:1
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作者 Guannan Liu Daniel Mullan +3 位作者 Aimin Zhang Hui Liu Dongcheng Liu Guijun Yan 《The Crop Journal》 SCIE CSCD 2023年第2期549-557,共9页
Common wheat(Triticum aestivum L.)is the most important crop in the world and a typical allopolyploid with a large and complex genome.Pre-harvest sprouting(PHS)leads to a significant reduction in grain quality worldwi... Common wheat(Triticum aestivum L.)is the most important crop in the world and a typical allopolyploid with a large and complex genome.Pre-harvest sprouting(PHS)leads to a significant reduction in grain quality worldwide.PHS is a complex trait with related QTL located on different chromosomes.However,the study of markers and genes related to PHS resistance is limited especially for whitegrained wheat.Four pairs of near isogenic lines(NILs)from a white-grained wheat cross of CharaDM5637B*8 targeting a major QTL for PHS resistance(Qphs.ccsu-3A.1)on wheat chromosme 3AL were genotyped using the 90K SNP Illumina iSelect array.Ten SNPs were identified,with a 75%-100%consistency between genotype and phenotype in the resistant or susceptible isolines.The 10 SNPs were converted to cost-effective kompetitive allele-specific PCR(KASP)markers.Screening of 48 wheat cultivars with different phenotypes of PHS identified four KASP markers with 81.3%-85.4%conformity between genotype and phenotype.Further investigation revealed that the four SNPs(BS00022245_51,Kukri_c49927_151,BS00022884_51 and BS00110550_51)corresponding to the four validated KASP markers are residing in three independent genes(TraesCS3A03G1072800,TraesCS3A03G1072400,TraesCS3A03G1071800)close to each other with a distance of 4.28-4.48 Mb to the targeted QTL.These three annotated genes have potential functions related to PHS resistance.Our study revealed that combined use of NILs and the 90K SNP chip is a powerful approach for developing KASP markers and mining functional genes in wheat.The KASP markers for PHS resistance on chromosome 3AL are useful for high-throughput evaluation and marker-assisted selection,and the three identified genes could lead to a better understanding of the genetic pathways controlling PHS. 展开更多
关键词 Pre-harvest sprouting(PHS) KASP marker Functional genes Chromosome 3AL 90K SNP assay Near-isogenic lines
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Transcriptional regulatory network during axonal regeneration of dorsal root ganglion neurons:laser-capture microdissection and deep sequencing 被引量:1
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作者 Li-Li Zhao Tao Zhang +2 位作者 Wei-Xiao Huang Ting-Ting Guo Xiao-Song Gu 《Neural Regeneration Research》 SCIE CAS CSCD 2023年第9期2056-2066,共11页
The key regulators and regeneration-associated genes involved in axonal regeneration of neurons after injury have not been clarified.In high-throughput sequencing,various factors influence the final sequencing results... The key regulators and regeneration-associated genes involved in axonal regeneration of neurons after injury have not been clarified.In high-throughput sequencing,various factors influence the final sequencing results,including the number and size of cells,the depth of sequencing,and the method of cell separation.There is still a lack of research on the detailed molecular expression profile during the regeneration of dorsal root ganglion neuron axon.In this study,we performed lase r-capture microdissection coupled with RNA sequencing on dorsal root ganglion neurons at 0,3,6,and 12 hours and 1,3,and 7 days after sciatic nerve crush in rats.We identified three stages after dorsal root ganglion injury:early(3-12 hours),pre-regeneration(1 day),and regeneration(3-7 days).Gene expression patterns and related function enrichment res ults showed that one module of genes was highly related to axonal regeneration.We verified the up-regulation of activating transcription factor 3(Atf3),Kruppel like factor 6(Klf6),AT-rich inte raction domain 5A(Arid5α),CAMP responsive element modulator(Crem),and FOS like 1,AP-1 transcription factor Subunit(Fosl1) in dorsal root ganglion neurons after injury.Suppressing these transcription factors(Crem,Arid5o,Fosl1 and Klf6) reduced axonal regrowth in vitro.As the hub transcription factor,Atf3 showed higher expression and activity at the preregeneration and regeneration stages.G protein-coupled estrogen receptor 1(Gper1),inte rleukin 12a(Il12α),estrogen receptor 1(ESR1),and interleukin 6(IL6) may be upstream factors that trigger the activation of Atf3 during the repair of axon injury in the early stage.Our study presents the detailed molecular expression profile during axonal regeneration of dorsal root ganglion neurons after peripheral nerve injury.These findings may provide reference for the clinical screening of molecular targets for the treatment of peripheral nerve injury. 展开更多
关键词 Arid5a ATF3 Crem dorsal root ganglion Fosl1 KLF6 laser-capture microdissection NEURON smart-seq2 gene expression profile transcription factor
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Hippocampal gene expression in a rat model of depression after electroacupuncture at the Baihui and Yintang acupoints 被引量:19
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作者 Dongmei Duan Xiuyan Yang2 Institute of Health Maintenance +2 位作者 Beijing University of Chinese Medicine Ya Tu Liping Chen 《Neural Regeneration Research》 SCIE CAS CSCD 2014年第1期76-83,共8页
Preliminary basic research and clinical findings have demonstrated that electroacupuncture ther- apy exhibits positive effects in ameliorating depression. However, most studies of the underlying mechanism are at the s... Preliminary basic research and clinical findings have demonstrated that electroacupuncture ther- apy exhibits positive effects in ameliorating depression. However, most studies of the underlying mechanism are at the single gene level; there are few reports regarding the mechanism at the whole-genome level. Using a rat genomic gene-chip, we profiled hippocampal gene expression changes in rats after electroacupuncture therapy. Electroacupuncture therapy alleviated depres- sion-related manifestations in the model rats. Using gene-chip analysis, we demonstrated that electroacupuncture at Baihui (DU20) and Yintang (EX-HN3) regulates the expression of 21 genes. Real-time PCR showed that the genes Vgf, lgf2, Trnp32, Loc500373, Hifla, Folrl, Nrnb, and Rtn were upregulated or downregulated in depression and that their expression tended to nor- malize after electroacupuncture therapy. These results indicate that electroacupuncture at Baihui and Yintang modulates depression by regulating the expression of particular genes. 展开更多
关键词 nerve regeneration acupuncture traditional Chinese medicine DEPRESSION gene expres-sion profiling gene-CHIP ELECTROACUPUNCTURE Baihui (DU20) Yintang (EX-HN3) chronic stress behavior NSFC grant neural regeneration
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Genome-Wide Analysis of the F3′5′H Gene Family in Blueberry(Vaccinium corymbosum L.)Provides Insights into the Regulation of Anthocyanin Biosynthesis
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作者 Xiaolan Guo Jinbin Hu +2 位作者 Shimei Yang Delu Wang Jianbing Wang 《Phyton-International Journal of Experimental Botany》 SCIE 2023年第9期2683-2697,共15页
The F3′5′H gene family plays an important role in regulating anthocyanin biosynthesis,abiotic stress,and hormone signaling.In this study,14 F3′5′H genes were identified from the blueberry genome.The chromosomal di... The F3′5′H gene family plays an important role in regulating anthocyanin biosynthesis,abiotic stress,and hormone signaling.In this study,14 F3′5′H genes were identified from the blueberry genome.The chromosomal distribution,physicochemical properties,F3′5′H domain,conserved motifs,cis-acting elements,and intron/exon compositions were analyzed.The functional prediction analysis of these VcF3′5′Hs indicated that their biological functions included light response and other secondary metabolites.The results of qRT-PCR showed that VcF3′5′Hs(especially VcF3′5′H4)were highly expressed at the ripening stage.Subcellular localization revealed that VcF3′5′H4 may be located in the endoplasmic reticulum.Co-expression analysis showed that the VcF3′5′H gene family was related to anthocyanin.This research provides an overview of the blueberry F3′5′H family and helps verify the role of these genes in regulating anthocyanin biosynthesis. 展开更多
关键词 BLUEBERRY F3′5′H ANTHOCYANIN gene expression CO-EXPRESSION
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TNFAIP3参与银屑病发病机制的研究进展
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作者 李紫祺 徐抑非 +2 位作者 杨婉珊 韩光明 史晓蔚 《皮肤性病诊疗学杂志》 2023年第3期284-288,共5页
银屑病的发病机制尚未完全明确,目前认为由T细胞亚群的功能紊乱所引起,据此机制研发的生物制剂成为银屑病治疗的里程碑。然而生物制剂治疗并不是一种根治性的治疗方案,且长期使用会引起细菌感染、真菌感染等副作用。越来越多的证据表明... 银屑病的发病机制尚未完全明确,目前认为由T细胞亚群的功能紊乱所引起,据此机制研发的生物制剂成为银屑病治疗的里程碑。然而生物制剂治疗并不是一种根治性的治疗方案,且长期使用会引起细菌感染、真菌感染等副作用。越来越多的证据表明肿瘤坏死因子α诱导蛋白3(TNFAIP3)作为NF-κB的负反馈调节因子,通过对T淋巴细胞、角质形成细胞、树突状细胞等多种免疫细胞的调控,在银屑病的发病机制中起到重要作用。本文对TNFAIP3基因、其与银屑病的关系以及作用机制的研究进展进行综述,为寻找新的银屑病治疗靶点提供参考。 展开更多
关键词 tnfaip3 银屑病 锌指蛋白A20 发病机制
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Creutzfeldt-Jakob disease presenting as Korsakoff syndrome caused by E196A mutation in PRNP gene:A case report
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作者 Yong-Kang Zhang Jia-Rui Liu +3 位作者 Kang-Li Yin Yuan Zong Yu-Zhen Wang Ye-Min Cao 《World Journal of Clinical Cases》 SCIE 2023年第25期5982-5987,共6页
BACKGROUND Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations.In humans,prion diseases result from mutations in the prion protein gene(PRNP).Only a... BACKGROUND Prion diseases are a group of degenerative nerve diseases that are caused by infectious prion proteins or gene mutations.In humans,prion diseases result from mutations in the prion protein gene(PRNP).Only a limited number of cases involving a specific PRNP mutation at codon 196(E196A)have been reported.The coexistence of Korsakoff syndrome in patients with Creutzfeldt-Jakob disease(CJD)caused by E196A mutation has not been documented in the existing literature.CASE SUMMARY A 61-year-old Chinese man initially presented with Korsakoff syndrome,followed by rapid-onset dementia,visual hallucinations,akinetic mutism,myoclonus,and hyperthermia.The patient had no significant personal or familial medical history.Magnetic resonance imaging of the brain revealed extensive hyperintense signals in the cortex,while positron emission tomography/computed tomography showed a diffuse reduction in cerebral cortex metabolism.Routine biochemical and microorganism testing of the cerebrospinal fluid(CSF)yielded normal results.Tests for thyroid function,human immunodeficiency virus,syphilis,vitamin B1 and B12 levels,and autoimmune rheumatic disorders were normal.Blood and CSF tests for autoimmune encephalitis and autoantibody-associated paraneoplastic syndrome yielded negative results.A test for 14-3-3 protein in the CSF yielded negative results.Whole-genome sequencing revealed a diseasecausing mutation in PRNP.The patient succumbed to the illness 11 months after the initial symptom onset.CONCLUSION Korsakoff syndrome,typically associated with alcohol intoxication,also manifests in CJD patients.Individuals with CJD along with PRNP E196A mutation may present with Korsakoff syndrome. 展开更多
关键词 Prion disease Creutzfeldt-Jakob disease Korsakoff syndrome PRNP gene 14-3-3 proteins Case report
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ADAMTS3 and FLT4 gene mutations result in congenital lymphangiectasia in newborns:A case report
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作者 Zhu-Wei Liang Wan-Li Gao 《World Journal of Clinical Cases》 SCIE 2023年第21期5179-5186,共8页
BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ syste... BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ systems;however,it frequently occurs in the lungs accompanied with unexplained pleural effusion.Further,it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities.However,after birth the newborn rapidly develops respiratory distress that quickly deteriorates.Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease.We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes,which have not been reported previously.CASE SUMMARY We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth.An autopsy revealed lymphangiectasia of the organ systems.Further,whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes,ADAMTS3 and FLT4,and Sanger verification revealed similar lesions in the mother with no symptoms.CONCLUSION Considering the presented case,obstetricians should observe unexplained foetal pleural effusion,and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment. 展开更多
关键词 Congenital lymphangiectasia ADAMTS3 FLT4 gene mutations Foetal pleural effusion Case report
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ABCB4 gene mutation-associated cirrhosis with systemic amyloidosis:A case report
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作者 Na Cheng Yu-Jie Qin +1 位作者 Quan Zhang Hong Li 《World Journal of Clinical Cases》 SCIE 2023年第20期4903-4911,共9页
BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused ... BACKGROUND Gene mutations in ATP-binding cassette,subfamily B(ABCB4)lead to autosomal recessive disorders.Primary light amyloidosis is a rare and incurable disease.Here,we report a rare case of liver cirrhosis caused by ABCB4 gene mutation combined with primary light amyloidosis.CASE SUMMARY We report a case of a 25-year-old female who was hospitalized due to recurrent abdominal pain caused by calculous cholecystitis and underwent cholecystectomy.Pathological examination of the liver tissue suggested liver cirrhosis with bile duct injury.Exon analyses of the whole genome from the patient’s peripheral blood revealed the presence of a heterozygous mutation in the ABCB4 gene.Bone marrow biopsy tissues,renal puncture examination,and liver mass spectrometry confirmed the diagnosis of a rare progressive familial intrahepatic cholestasis type 3 with systemic light chain type κ amyloidosis,which resulted in cirrhosis.Ursodeoxycholic acid and the cluster of differentiation 38 monoclonal antibody daretozumab were administered for treatment.Following treatment,the patient demonstrated significant improvement.Urinary protein became negative,peripheral blood-free light chain and urine-free light chain levels returned to normal,and the electrocardiogram showed no abnormalities.Additionally,the patient’s lower limb numbness resolved,and her condition remained stable.CONCLUSION This report presents the diagnosis and treatment of liver cirrhosis,a rare disease that is easily misdiagnosed or missed. 展开更多
关键词 ABCB4 gene Progressive familial intrahepatic cholestasis 3 CIRRHOSIS Systemic amyloidosis Case report
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Ex vivo non-viral vector-mediated neurotrophin-3 gene transfer to olfactory ensheathing glia: effects on axonal regeneration and functional recovery after implantation in rats with spinal cord injury 被引量:3
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作者 吴军 孙天胜 +1 位作者 任继鑫 王献章 《Neuroscience Bulletin》 SCIE CAS CSCD 2008年第2期57-65,共9页
Objective Combine olfactory ensheathing glia (OEG) implantation with ex vivo non-viral vector-based neurotrophin- 3 (NT-3) gene therapy in attempting to enhance regeneration after thoracic spinal cord injury (SCI... Objective Combine olfactory ensheathing glia (OEG) implantation with ex vivo non-viral vector-based neurotrophin- 3 (NT-3) gene therapy in attempting to enhance regeneration after thoracic spinal cord injury (SCI). Methods Primary OEG were transfected with cationic liposome-mediated recombinant plasmid pcDNA3.1 (+)-NT3 and subsequently implanted into adult Wistar rats directly after the thoracic spinal cord (T9) contusion by the New York University impactor. The animals in 3 different groups received 4x 1050EG transfected with pcDNA3.1 (+)-NT3 or pcDNA3.1 (+) plasmids, or the OEGs without any plasmid transfection, respectively; the fourth group was untreated group, in which no OEG was implanted. Results NT-3 production was seen increased both ex vivo and in vivo in pcDNA3.1 (+)-NT3 transfected OEGs. Three months after implantation of NT-3-transfected OEGs, behavioral analysis revealed that the hindlimb function of SCI rats was improved. All spinal cords were filled with regenerated neurofilament-positive axons. Retrograde tracing revealed enhanced regenerative axonal sprouting. Conclusion Non-viral vector-mediated genetic engineering of OEG was safe and more effective in producing NT- 3 and promoting axonal outgrowth followed by enhancing SCI recovery in rats. 展开更多
关键词 functional recovery gene therapy NEUROTROPHIN-3 olfactory ensheathing glia regeneration spinal cord injury non-viral vectors
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^(103)Pd-induced apoptosis of proliferative smooth muscle cells in bile ducts of dogs:significance and effects on related genes 被引量:5
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作者 Gui-Jin He,Fa-Qiang Yu,Rong Wu,Qin-Yi Gao,Shu-He Xu,Hong Gao, Wei-Guo Jiang,Tao Jiang and Xian-Wei Dai Department of General Surgery,Second Affiliated Hospital(Shengjing Hospital),China Medical University,Shenyang 110004,China,Radiotherapy Center,Second Affiliated Hospital(Shengjing Hospital),China Medical University,Shenyang 110004,China,Pediatrics Surgery Laboratory,Second Affiliated Hospital(Shengjing Hospital),China Medical University,Shenyang 110004,China,Department of Pathology,Second Affiliated Hospital(Shengjing Hospital),China Medical University,Shenyang 110004,China Isotope Unit,First Affiliated Hospital,China Medical University,Shenyang 110001,China and Isotope Research Institute,China Institute of Atomic Energy,Beijing 100050,China 《Hepatobiliary & Pancreatic Diseases International》 SCIE CAS 2007年第5期521-526,共6页
BACKGROUND:With the objective of developing a locally- produced radioactive stent,the present study used in vivo animal experiments to explore apoptosis of proliferative smooth muscle cells resulting from facilitation... BACKGROUND:With the objective of developing a locally- produced radioactive stent,the present study used in vivo animal experiments to explore apoptosis of proliferative smooth muscle cells resulting from facilitation of the expression of genes caused byγ-radiation in order to prevent bile duct restenosis.We therefore explored the effects and significance ofγ-radiation on the activity of caspase-3,Fas and Bcl-2 genes in apoptosis of proliferative smooth muscle cells in the bile duct walls of dogs. METHODS:Twelve dogs were randomly divided into 2 groups(6 in each group).A postinjury bile duct stenosis model was established and radioactive 103 Pd( 103 palladium) or ordinary bile duct stents were implanted into the bile ducts.HE staining,RT-PCR and immunohistochemistry were used to detect the proliferation and apoptosis of bile duct smooth muscle cells in proliferative endomembrane and the expression of related caspase-3,Bcl-2 and Fas genes. RESULTS:The expression of caspase-3 and Fas genes in the bile duct tissues of dogs with radioactive stents was higher than that of dogs with ordinary stents.There was significant apoptosis of proliferative smooth muscle cells in the bile ducts.The expression of the Bcl-2 gene in the bile duct tissues of dogs with radioactive stents was lower than that in those with ordinary stents.There was significant apoptosis of proliferative smooth muscle cells in the dogs with low Bcl-2 gene expression. CONCLUSIONS:Radiation increases the activity of caspase-3 and Fas genes and is associated with apoptosis. The radioactive 103 Pd stent may facilitate apoptosis of proliferative smooth muscle cells in the bile ducts of dogs by activating these genes.The Bcl-2 gene expression level is correlated with the occurrence of apoptosis and the radiosusceptibility of cells. 展开更多
关键词 radioactive 103 Pd stent γ-radiation caspase-3 gene Fas gene Bcl-2 gene apoptosis
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TNFAIP3和TNIP1基因在寻常型银屑病中的表达及意义 被引量:3
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作者 张霞 张丽 张正华 《广东医学院学报》 2012年第4期358-360,363,共4页
目的检测轻度和中重度寻常型银屑病患者的皮肤中肿瘤坏死因子-α诱导蛋白质3(TNFAIP3)和TNFAIP3相互作用蛋白质1(TNIP1)mRNA表达。方法采用实时荧光定量PCR来检测20例寻常银屑病患者皮损和正常皮肤中TNFAIP3和TNIP1 mRNA表达。结果与正... 目的检测轻度和中重度寻常型银屑病患者的皮肤中肿瘤坏死因子-α诱导蛋白质3(TNFAIP3)和TNFAIP3相互作用蛋白质1(TNIP1)mRNA表达。方法采用实时荧光定量PCR来检测20例寻常银屑病患者皮损和正常皮肤中TNFAIP3和TNIP1 mRNA表达。结果与正常皮肤相比,10例轻度银屑病患者皮损中出现TNFAIP3基因表达下调和TNIP1基因表达上调(P<0.05)。10例中重度银屑病患者的正常皮肤和皮损中,TNFAIP3和TNIP1 mRNA表达差异无统计学意义(P>0.05)。结论 TNFAIP3和TNIP1 mRNA表达异常可能在寻常性银屑病的早期发挥作用。 展开更多
关键词 银屑病 肿瘤坏死因子-α诱导蛋白质3(tnfaip3) tnfaip3相互作用蛋白质1(TNIP1)
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Clinical manifestations and gene mutation in a case of Machado-Joseph disease 被引量:1
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作者 Bin Zhang Liru Li +1 位作者 Longxing Chen Jie Huang 《Neural Regeneration Research》 SCIE CAS CSCD 2012年第35期2842-2847,共6页
This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission sh... This study reports a case of a 75-year-old female Machado-Joseph disease patient exhibiting unstable walking and inaccurate hand holding for 8 months, which progressively worsened. Physical examination on admission showed cerebellar ataxia and a history of hypertension. Crania MRI demonstrated cerebellar and brain stem atrophy. Gene analysis showed abnormal amplification of the CAG trinucleotide repeat in exon 10 of the ataxin-3 (ATXN3) gene, resulting in 70-81 CAG repeats in the patient, with a significant positive family history. 展开更多
关键词 machado-Joseph disease clinical characteristics IMAGING molecular genetics spinocerebellarataxia-3 gene gene mutation exon 10 spinocerebellar ataxia nervous system disease
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Genetic Variation Analysis of 3D Gene and Molecular Detection of Porcine Kobuvirus in 2013-2014
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作者 倪艳秀 何孔旺 +10 位作者 茅爱华 俞正玉 李彬 郭容利 吕立新 祝昊丹 周俊明 温立斌 张雪寒 王小敏 汪伟 《Agricultural Science & Technology》 CAS 2015年第3期442-446,共5页
[Objective] This study aimed to investigate the prevalence and variation of porcine kobuvirus (PKV) in suckling piglets in China. [Method] In 2013-2014, 224 feces samples from suckling piglets with diarrhea in 27 pi... [Objective] This study aimed to investigate the prevalence and variation of porcine kobuvirus (PKV) in suckling piglets in China. [Method] In 2013-2014, 224 feces samples from suckling piglets with diarrhea in 27 pig farms of five provinces in China were collected to detect 3D genes of PKV with RT-PCR method; the sequences and genetic variation of 29 PKV 3D genes were analyzed. [Result] Total positive rate of PKV in feces samples from suckling piglets with diarrhea was 65.18% (146/224); total positive rate of PKV in pig farms was 85,2% (23/27); nucleotide sequences and the deduced amino acid sequences of 29 PKV 3D genes shared 87.0%-100% and 92.7%-100% homologies with six PKV-related 3D sequences, respectively. [Conclusion] PKV infection is prevalent in suckling piglets in China; PKV 3D genes exhibit high diversity. 展开更多
关键词 Porcine kobuvirus Molecular detection 3D gene genetic variation analysis
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