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Polymorphic variants of ABCA1, PMM2, and ARHGEF12 genes and the risk of glaucoma in an Iranian population
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作者 Asghar Shayannia Kobra Foroughi +2 位作者 Mohammad Hassan Emamian Hassan Hashemi Akbar Fotouhi 《International Journal of Ophthalmology(English edition)》 2025年第5期846-852,共7页
AIM:To examine whether rs2472493 and rs248032 in the ABCA1 gene,rs3785176 in the PMM2 gene,and rs11827818 in the ARHGEF12 gene contribute to primary open angle glaucoma(POAG)in an Iranian population.METHODS:Totally 82... AIM:To examine whether rs2472493 and rs248032 in the ABCA1 gene,rs3785176 in the PMM2 gene,and rs11827818 in the ARHGEF12 gene contribute to primary open angle glaucoma(POAG)in an Iranian population.METHODS:Totally 82 POAG patients and 172 healthy controls were enrolled.The selected gene polymorphisms were analyzed using TaqMan SNP Genotyping Assay using deoxyribonucleic acid(DNA)extracted from blood samples.Allelic and genotypic frequencies were evaluated using the Chi-square test.The association between the genotypes of single nucleotide polymorphisms(SNPs)and POAG was assessed using multiple logistic regression models.The linkage disequilibrium and haplotype block structure were assessed using the Haploview 4.2 software.RESULTS:The results showed a significant association between allele frequencies of rs2472493 in the ABCA1 gene locus and POAG[odds ratio(OR)=1.58,95%confidence intervals(CI)=1.04-2.39,P=0.031].The rs3785176 in the PMM2 gene was also associated with POAG in additive and over dominant genotypes.Moreover,haplotype analysis showed a significant association of two estimated haplotypes of rs2472493/rs2487032 with POAG.The AA haplotype showed a reduction in POAG risk(OR=0.41,95%CI=0.202-0.834,P=0.012),while the GG haplotype was associated with the disease.In addition,this study could not discover any association between genotype and allele frequency of rs248032 in the ABCA1 gene,and rs11827818 in ARHGEF12 gene and POAG.CONCLUSION:rs2472493 in the ABCA1 gene can be considered a genetic susceptibility locus for POAG.The haplotype constructed with ABCA1 gene SNPs(rs2472493/rs2487032)is associated with POAG. 展开更多
关键词 ABCA1 pmm2 ARHGEF12 rs2472493 rs248032 rs3785176 rs11827818 Iran primary open angle glaucoma
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应用Minigene剪接变异体分析技术诊断PMM2基因非经典剪接位点新变异的致病性 被引量:1
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作者 周琴 林伟霞 宋元宗 《暨南大学学报(自然科学与医学版)》 CAS 北大核心 2024年第2期124-131,共8页
目的:研究Minigene剪接变异体分析技术在诊断磷酸甘露糖变位酶2(PMM2)相关先天性糖基化障碍(PMM2-CDG)中的价值,探讨磷酸甘露糖变位酶2(PMM2)基因剪接位点新变异对其转录产物的影响。方法:通过对1例PMM2-CDG患儿进行高通量测序查找可能... 目的:研究Minigene剪接变异体分析技术在诊断磷酸甘露糖变位酶2(PMM2)相关先天性糖基化障碍(PMM2-CDG)中的价值,探讨磷酸甘露糖变位酶2(PMM2)基因剪接位点新变异对其转录产物的影响。方法:通过对1例PMM2-CDG患儿进行高通量测序查找可能的遗传学病因,利用Minigene剪接变异体分析技术,研究PMM2基因新剪接位点变异的致病性。根据美国医学遗传学与基因组学学会(ACMG)指南,判断新变异的致病性。结果:遗传学分析发现患儿系PMM2基因母源性c.691G>A(p.Val231Met)变异和父源性c.447+5G>A变异复合杂合子。Minigene剪接变异体分析发现:变异c.447+5G>A导致PMM2基因转录产物形成r.348_447del转录本,为致病性PMM2基因变异。患儿的临床特征为皮肤巩膜黄染,血清总胆红素、非结合胆红素和总胆汁酸明显升高,白蛋白明显降低,甲胎蛋白、铁蛋白和促甲状腺素等升高,对症支持治疗效果欠佳。结论:Minigene剪接变异体分析可为PMM2-CDG确诊和家系遗传咨询提供新的分子标记物,扩展了PMM2基因变异谱,为该病的临床诊治提供新的参考依据。 展开更多
关键词 磷酸甘露糖变位酶2(pmm2)基因 pmm2相关先天性糖基化障碍(pmm2-CDG) Minigene剪接变异体分析
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Identification of hub genes associated with Helicobacter pylori infection and type 2 diabetes mellitus:A pilot bioinformatics study 被引量:1
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作者 Han Chen Guo-Xin Zhang Xiao-Ying Zhou 《World Journal of Diabetes》 SCIE 2024年第2期170-185,共16页
BACKGROUND Helicobacter pylori(H.pylori)infection is related to various extragastric diseases including type 2 diabetes mellitus(T2DM).However,the possible mechanisms connecting H.pylori infection and T2DM remain unkn... BACKGROUND Helicobacter pylori(H.pylori)infection is related to various extragastric diseases including type 2 diabetes mellitus(T2DM).However,the possible mechanisms connecting H.pylori infection and T2DM remain unknown.AIM To explore potential molecular connections between H.pylori infection and T2DM.METHODS We extracted gene expression arrays from three online datasets(GSE60427,GSE27411 and GSE115601).Differentially expressed genes(DEGs)commonly present in patients with H.pylori infection and T2DM were identified.Hub genes were validated using human gastric biopsy samples.Correlations between hub genes and immune cell infiltration,miRNAs,and transcription factors(TFs)were further analyzed.RESULTS A total of 67 DEGs were commonly presented in patients with H.pylori infection and T2DM.Five significantly upregulated hub genes,including TLR4,ITGAM,C5AR1,FCER1G,and FCGR2A,were finally identified,all of which are closely related to immune cell infiltration.The gene-miRNA analysis detected 13 miRNAs with at least two gene cross-links.TF-gene interaction networks showed that TLR4 was coregulated by 26 TFs,the largest number of TFs among the 5 hub genes.CONCLUSION We identified five hub genes that may have molecular connections between H.pylori infection and T2DM.This study provides new insights into the pathogenesis of H.pylori-induced onset of T2DM. 展开更多
关键词 Helicobacter pylori Type 2 diabetes mellitus Bioinformatics analysis Differentially expressed genes Hub genes
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PIFs interact with SWI2/SNF2-related 1 complex subunit 6 to regulate H2A.Z deposition and photomorphogenesis in Arabidopsis 被引量:1
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作者 Huiru Chen Wanting Wang +9 位作者 Xiao Chen Yake Niu Yuanyuan Qi Ze Yu Minyu Xiong Pengbo Xu Wenxiu Wang Tongtong Guo Hong-Quan Yang Zhilei Mao 《Journal of Genetics and Genomics》 SCIE CSCD 2023年第12期983-992,共10页
Light is an essential environmental signal perceived by a broad range of photoreceptors in plants. Among them, the red/far-red light receptor phytochromes function to promote photomorphogenesis, which is critical to t... Light is an essential environmental signal perceived by a broad range of photoreceptors in plants. Among them, the red/far-red light receptor phytochromes function to promote photomorphogenesis, which is critical to the survival of seedlings after seeds germination. The basic-helix-loop-helix transcription factors phytochrome-interacting factors (PIFs) are the pivotal direct downstream components of phytochromes. H2A.Z is a highly conserved histone variant regulating gene transcription, and its incorporation into nucleosomes is catalyzed by SWI2/SNF2-related 1 complex, in which SWI2/SNF2-related 1 complex subunit 6 (SWC6) and actin-related protein 6 (ARP6) serve as core subunits. Here, we show that PIFs physically interact with SWC6 in vitro and in vivo, leading to the disassociation of HY5 from SWC6. SWC6 and ARP6 regulate hypocotyl elongation partly through PIFs in red light. PIFs and SWC6 coregulate the expression of auxin-responsive genes such as IAA6, IAA19, IAA20, and IAA29 and repress H2A.Z deposition at IAA6 and IAA19 in red light. Based on previous studies and our findings, we propose that PIFs inhibit photomorphogenesis, at least in part, through repression of H2A.Z deposition at auxin-responsive genes mediated by the interactions of PIFs with SWC6 and promotion of their expression in red light. 展开更多
关键词 Phytochrome-interacting factors PHOTOMORPHOgenesIS H2A.Z SWC6 Auxin-responsive genes ARABIDOPSIS
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PMM2基因新变异致先天性糖基化障碍1例临床及基因分析 被引量:4
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作者 张媛 陈光福 刘文兰 《中国中西医结合儿科学》 2020年第4期357-361,共5页
本文报道1例PMM2基因新变异所致先天性糖基化障碍(PMM2-CDG)的临床特征及PMM2基因突变特点。患儿女,9个月,主要表现为精神运动发育落后伴肝酶异常,双耳稍大,内斜视(左),四肢肌张力稍高。Sanger测序结果显示患儿PMM2基因存在两处杂合变异... 本文报道1例PMM2基因新变异所致先天性糖基化障碍(PMM2-CDG)的临床特征及PMM2基因突变特点。患儿女,9个月,主要表现为精神运动发育落后伴肝酶异常,双耳稍大,内斜视(左),四肢肌张力稍高。Sanger测序结果显示患儿PMM2基因存在两处杂合变异点,分别为外显子5的c.430T>C(p.F144L),外显子7的c.556G>A(p.G186R),前者来自父亲,为已知热点致病变异,后者来自母亲,为未报道新变异。对于临床上不明原因的多脏器损害,特别是婴幼儿,合并全面性发育迟缓、神经系统疾病、肝功能损害、眼睛异常、外耳异常等,应考虑本病的可能,PMM2基因检测有助诊断,并可根据突变位点评估预后。 展开更多
关键词 先天性糖基化障碍 pmm2基因 新变异
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Impact of homeobox genes in gastrointestinal cancer 被引量:12
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作者 Moon Kyung Joo Jong-Jae Park Hoon Jai Chun 《World Journal of Gastroenterology》 SCIE CAS 2016年第37期8247-8256,共10页
Homeobox genes, including HOX and non-HOX genes, have been identified to be expressed aberrantly in solid tumors. In gastrointestinal(GI) cancers, most studies have focused on the function of non-HOX genes including c... Homeobox genes, including HOX and non-HOX genes, have been identified to be expressed aberrantly in solid tumors. In gastrointestinal(GI) cancers, most studies have focused on the function of non-HOX genes including caudal-related homeobox transcription factor 1(CDX1) and CDX2. CDX2 is a crucial factor in the development of pre-cancerous lesions such as Barrett's esophagus or intestinal metaplasia in the stomach, and its tumor suppressive role has been investigated in colorectal cancers. Recently, several HOX genes were reported to have specific roles in GI cancers; for example, HOXA13 in esophageal squamous cell cancer and HOXB7 in stomach and colorectal cancers. HOXD10 is upregulated in colorectal cancer while it is silenced epigenetically in gastric cancer. Thus, it is essential to examine the differential expression pattern of various homeobox genes in specific tumor types or cell lineages, and understand their underlying mechanisms. In this review, we summarize the available research on homeobox genes and present their potential value for the prediction of prognosis in GI cancers. 展开更多
关键词 HOMEOBOX genes HOX genes Caudalrelated HOMEOBOX transcription factor 2 GASTROINTESTINAL CANCERS HOXB7
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PCR Detection of Virulence Genes Colv,Stxs and HlyE of Escherichia coli 被引量:3
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作者 史秋梅 张艳英 +5 位作者 高桂生 高光平 刘玉芹 房海 陈翠珍 沈庆鹏 《Agricultural Science & Technology》 CAS 2012年第10期2044-2047,共4页
[Objective] This study aimed to explore the presence of three causative genes Colv,Stxs and HlyE of the pathogenic E.coli from chickens,pigs and food.[Method] By using 44 E.coli strains from chickens,24 from pigs and ... [Objective] This study aimed to explore the presence of three causative genes Colv,Stxs and HlyE of the pathogenic E.coli from chickens,pigs and food.[Method] By using 44 E.coli strains from chickens,24 from pigs and 26 from food as the experimental materials,virulence genes Colv,Stxs(stx2,stx2e) and HlyE were detected with polymerase chain reaction(PCR) method.[Result] Among all the E.coli strains,the detection rate of Colv was 25% from chickens,4.2% from pigs,and 0 from food;the detection rate of Stx2(Stx2e) from all E.coli strains was 0;the detection rate of HlyE was 2.27% from chickens,0 from pigs,and 11.5% from food.[Conclusion] Virulence gene Colv shows relatively high carrying rate in E.coli from chickens and pigs;HlyE also shows a certain degree of presence in E.coli from chickens and food. 展开更多
关键词 Escherichia coli Virulence gene Colv stx2 stx2e HlyE PCR
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RNA binding proteins in spermatogenesis: an in depth focus on the Musashi family 被引量:5
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作者 Jessie M Sutherland Nicole A Siddall +1 位作者 Gary R Hime Eileen A McLaughlin 《Asian Journal of Andrology》 SCIE CAS CSCD 2015年第4期529-536,共8页
Controlled gene regulation during gamete development is vital for maintaining reproductive potential. During the complex process of mammalian spermatogenesis, male germ cells experience extended periods of the inactiv... Controlled gene regulation during gamete development is vital for maintaining reproductive potential. During the complex process of mammalian spermatogenesis, male germ cells experience extended periods of the inactive transcription despite heavy translational requirements for continued growth and differentiation. Hence, spermatogenesis is highly reliant on mechanisms of posttranscriptional regulation of gene expression, facilitated by RNA binding proteins (RBPs), which remain abundantly expressed throughout this process. One such group of proteins is the Musashi family, previously identified as critical regulators of testis germ cell development and meiosis in Drosophila, and also shown to be vital to sperm development and reproductive potential in the mouse. This review describes the role and function of RBPs our recent knowledge of the Musashi proteins in spermatogenesis. within the scope of male germ cell development, focusing on The functional mechanisms utilized by RBPs within the cell are outlined in depth, and the significance of sub-cellular localization and stage-specific expression in relation to the mode and impact of posttranscriptional regulation is also highlighted. We emphasize the historical role of the Musashi family of RBPs in stem cell function and cell fate determination, as originally characterized in Drosophila and Xenopus, and conclude with our current understanding of the differential roles and functions of the mammalian Musashi proteins, Musashi-1 and Musashi-2, with a primary focus on our findings in spermatogenesis. This review highlights both the essential contribution of RBPs to posttranscriptional regulation and the importance of the Musashi family as master regulators of male gamete development. 展开更多
关键词 gene regulation Musashi MUSASHI-1 Musashi-2 posttranscriptional control RNA binding proteins SPERMATOgenesIS SPLICING TESTIS translation
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CRISPR/Cas9 editing of wheat TaQ genes alters spike morphogenesis and grain threshability 被引量:7
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作者 Huiyun Liu Ke Wang +4 位作者 Huali Tang Qiang Gong Lipu Du Xinwu Pei Xingguo Ye 《Journal of Genetics and Genomics》 SCIE CAS CSCD 2020年第9期563-575,共13页
The Ta Q alleles as one of the AP2-like transcription factors in common wheat(Triticum aestivum) play an important role in the evolution of spike characteristics from wild and domesticated emmer to modern wheat cultiv... The Ta Q alleles as one of the AP2-like transcription factors in common wheat(Triticum aestivum) play an important role in the evolution of spike characteristics from wild and domesticated emmer to modern wheat cultivars. Its loss-of-function mutant not only changed threshability and spike architecture but also affected plant height, flowering time, and floret structure. However, the comprehensive functions of Ta AQ and Ta Dq genes in wheat have not been fully elucidated yet. Here, CRISPR/Sp Cas9 was used to edit wheat Ta AQ and Ta Dq. We obtained homozygous plants in the T1 generation with loss of function of only Ta AQ or Ta Dq and simultaneous loss of function of Ta AQ and Ta Dq to analyze the effect of these genes on wheat spikes and floret shapes. The results demonstrated that the Ta AQ-edited plants and the Ta AQ and Ta Dq simultaneously-edited plants were nearly similar in spike architecture, whereas the Ta Dq-edited plants were different from the wild-type ones only in plant height. Moreover, the Ta AQ-edited plants or the Ta AQ and Ta Dq simultaneously-edited plants were more brittle than the wild-type and the Ta Dqedited plants. Based on the expression profiling, we postulated that the VRN1, FUL2, SEP2, SEP5, and SEP6 genes might affect the number of spikelets and florets per spike in wheat by regulating the expression of Ta Q. Combining the results of this report and previous reports, we conceived a regulatory network of wheat traits, including plant height, spike shape, and floral organs, which were influenced by AP2-like family genes. The results achieved in this study will help us to understand the regulating mechanisms of Ta AQ and Ta Dq alleles on wheat floral organs and inflorescence development. 展开更多
关键词 Triticum aestivum Gene editing Spike architecture APETALA2 TaQ genes
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The Role of Predominant Expression of Th2 Type Cytokines Gene in the Genesis and Development of Human Gliomas 被引量:1
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作者 李刚 胡永生 +3 位作者 李新钢 张庆林 贾德泽 宫崧峰 《The Chinese-German Journal of Clinical Oncology》 CAS 2003年第4期227-230,252,253,共6页
Objective: To explore the expression of Th1/Th2 cytokines gene in human gliomas and its role in the genesis and development of human gliomas.Methods: Using IL-2 and IFNγ as Th1 type cytokines, IL-4, IL-6 and IL-10 as... Objective: To explore the expression of Th1/Th2 cytokines gene in human gliomas and its role in the genesis and development of human gliomas.Methods: Using IL-2 and IFNγ as Th1 type cytokines, IL-4, IL-6 and IL-10 as Th2 type cytokines, the biological activity of cytokines in the supernatant of glioma cell lines was assayed by ELISA method, and the gene expression of Th1/Th2 cytokines in human glioma cells, glioma infiltrating lymphocytes and glioma cell lines were detected by RT-PCR.Results: There was predominant expression of Th2 type cytokines in human glioma cells, glioma infiltrating lymphocytes and glioma cell lines, but there was no such expression in normal brain tissues.Conclusion: It suggested that there is a relationship between the Th2 type cytokines expression in human gliomas and the immunosupressive status of human glioma patients. The predominant expression of Th2 type cytokines may play an important role in the genesis and development of human gliomas. Key words glioma - Th1/Th2 - gene expression - RT-PCR This project was supported by a grant from National Natural Sciences foundation of China (No. 30271335). 展开更多
关键词 GLIOMA TH1/TH2 gene expression RT-PCR
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The relationship of Imp2 and DR3 genes with susceptibility to type Ⅰ diabetes mellitus in south China Han population 被引量:7
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作者 Ding HL Cheng H +3 位作者 Fu ZZ Deng QL Yan L Yan T 《World Journal of Gastroenterology》 SCIE CAS CSCD 2000年第1期111-114,共4页
AIN To study the relationship of Imp2 and DR3genes with type Ⅰ diabetes mellitus.NETHODS Imp2 genotypes and DR3 wereidentified in 68 patients with type Ⅰ diabetesmellitus(Ⅰ-DM)and 71 healthy controls.Then,Ⅰ-DM pat... AIN To study the relationship of Imp2 and DR3genes with type Ⅰ diabetes mellitus.NETHODS Imp2 genotypes and DR3 wereidentified in 68 patients with type Ⅰ diabetesmellitus(Ⅰ-DM)and 71 healthy controls.Then,Ⅰ-DM patients and controls were respectivelyallocated into DR3-positive and DR3-negativegroups.The frequencies of Imp2 and DR3 genein random subjects,and Imp2 genotypes in DR3-matched subjects were compared between Ⅰ-DMpatients and controls.At the same time,Ⅰ-DMpatients were divided into 3 groups based on theonset age of diabetics:group A≤14 years,group B 15-30 years and group C≥31 years.RESULTS The frequency of DR3 in Ⅰ-DMpatients was significantly higher than that incontrols(47% vs 21%,P【0.005),and it wassignificantly higher in group A than that in groupB+C(70% vs 36%,x^2=7.07,P【0.01).Therewas a significant difference among groups withdifferent onset age of diabetics(x^2=8.19,rp=0.33,P【0.05).In random subjects,thefrequency of Imp2.R/R in Ⅰ-DM patients waslower(43% vs 61%,P【0.05)and Imp2.R/Hhigher(53% vs 28%,P【0.05)than that incontrols,and there was no significant differenceamong groups with different onset age ofdiabetics.In DR3-positive subjects,thefrequency of Imp2.R/R in Ⅰ-DM patients waslower(47% vs 87%,P【0.05)and Imp2-R/H higher(47% vs 13%,P【0.05)than that incontrols.In DR3-negative subjects,thefrequency of Imp2.R/H in Ⅰ-DM patients washigher than that in controls(58% vs 32%,P【0.01),but the frequency of Imp2-R/R and Imp2H/H was not significantly different betweenthese two groups.CONCLUSION DR3 gene may be one of thesusceptible genes of Ⅰ-DM,and significantlyrelated to the onset age of diabetics,and thepersons with DR3 may have an younger onsetage of diabeteS.The Imp2-R/R may be theprotective genotype of Ⅰ-DM,and Imp2-R/H thesusceptible genotype.These were not affectedby DR3 gene.Imp-2 genotypes were not relatedwith the onset age of diabetics. 展开更多
关键词 Subject headings diabetes MELLITUS Imp2 genes DR3 genes POLYMERASE chain reaction RESTRICTION FRAGMENT length polymorphism genetic SUSCEPTIBILITY
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Decreased nitrous oxide emissions associated with functional microbial genes under bio-organic fertilizer application in vegetable fields 被引量:10
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作者 Yajun GENG Yiming YUAN +7 位作者 Yingcheng MIAO Junzhang ZHI Mengyuan HUANG Yihe ZHANG Hong WANG Qirong SHEN Jianwen ZOU Shuqing LI 《Pedosphere》 SCIE CAS CSCD 2021年第2期279-288,共10页
Bio-organic fertilizers enriched with plant growth-promoting microbes(PGPMs)have been widely used in crop fields to promote plant growth and maintain soil microbiome functions.However,their potential effects on N_(2)O... Bio-organic fertilizers enriched with plant growth-promoting microbes(PGPMs)have been widely used in crop fields to promote plant growth and maintain soil microbiome functions.However,their potential effects on N_(2)O emissions are of increasing concern.In this study,an in situ measurement experiment was conducted to investigate the effect of organic fertilizer containing Trichoderma guizhouense(a plant growth-promoting fungus)on soil N_(2)O emissions from a greenhouse vegetable field.The following four treatments were used:no fertilizer(control),chemical fertilizer(NPK),organic fertilizer derived from cattle manure(O),and organic fertilizer containing T.guizhouense(O+T,referring to bio-organic fertilizer).The abundances of soil N cycling-related functional genes(amoA)from ammonium-oxidizing bacteria(AOB)and archaea(AOA),as well as nirS,nirK,and nosZ,were simultaneously determined using quantitative PCR(qPCR).Compared to the NPK plot,seasonal total N_(2)O emissions decreased by 11.7%and 18.7%in the O and O+T plots,respectively,which was attributed to lower NH_(4)^(+)-N content and AOB amoA abundance in the O and O+T plots.The nosZ abundance was significantly greater in the O+T plot,whilst the AOB amoA abundance was significantly lower in the O+T plot than in the O plot.Relative to the organic fertilizer,bio-organic fertilizer application tended to decrease N_(2)O emissions by 7.9%and enhanced vegetable yield,resulting in a significant decrease in yield-scaled N_(2)O emissions.Overall,the results of this study suggested that,compared to organic and chemical fertilizers,bio-organic fertilizers containing PGPMs could benefit crop yield and mitigate N_(2)O emissions in vegetable fields. 展开更多
关键词 chemical fertilizer gene abundance greenhouse vegetable N cycle-related genes plant growth-promoting microbe Trichoderma guizhouense yield-scaled N_(2)O emission
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Effects of epinephrine on angiogenesis-related gene expressions in cultured rat cardiomyocytes 被引量:1
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作者 Henry Liu Lisa Sangkum +3 位作者 Geoffrey Liu Michael Green Marilyn Li Alan Kaye 《The Journal of Biomedical Research》 CAS CSCD 2016年第5期380-385,共6页
Epinephrine is often used for the treatment of patients with heart failure, low cardiac output and cardiac arrest. It can acutely improve hemodynamic parameters; however, it does not seem to improve longer term clinic... Epinephrine is often used for the treatment of patients with heart failure, low cardiac output and cardiac arrest. It can acutely improve hemodynamic parameters; however, it does not seem to improve longer term clinical outcomes. Therefore, we hypothesized that epinephrine may induce unfavorable changes in gene expression of cardiomyocyte. Thus, we investigated effects of epinephrine exposure on the mediation or modulation of gene expression of cultured cardiomyocytes at a genome-wide scale. Our investigation revealed that exposure of cardiomyocytes to epinephrine in an in vitro environment can up-regulate the expression ofangiopoietin-2 gene (~ 2.1 times), and down-regulate the gene expression of neuregulin 1 (-3.7 times), plasminogen activator inhibitor-1 (-2.4 times) and SPARC-related modular calcium-binding protein-2 (-4.5 times). These changes suggest that epinephrine exposure may induce inhibition of angiogenesis-related gene expressions in cultured rat cardiomyocytes. The precise clinical significance of these changes in gene expression, which was induced by epinephrine exposure, warrants further experimental and clinical investigations. 展开更多
关键词 EPINEPHRINE ANGIOgenesIS gene expression CARDIOMYOCYTES ANGIOPOIETIN-2 neuregulin 1 plasminogen activator inhibitor-1 SPARC-related modular calcium-binding protein
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Regulatory potential of soil available carbon,nitrogen,and functional genes on N_(2)O emissions in two upland plantation systems 被引量:1
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作者 Peng Xu Mengdie Jiang +4 位作者 Imran Khan Muhammad Shaaban Hongtao Wu Barthelemy Harerimana Ronggui Hu 《Journal of Integrative Agriculture》 SCIE CAS CSCD 2024年第8期2792-2806,共15页
Dynamic nitrification and denitrification processes are affected by changes in soil redox conditions,and they play a vital role in regulating soil N_(2)O emissions in rice-based cultivation.It is imperative to underst... Dynamic nitrification and denitrification processes are affected by changes in soil redox conditions,and they play a vital role in regulating soil N_(2)O emissions in rice-based cultivation.It is imperative to understand the influences of different upland crop planting systems on soil N_(2)O emissions.In this study,we focused on two representative rotation systems in Central China:rapeseed–rice(RR)and wheat–rice(WR).We examined the biotic and abiotic processes underlying the impacts of these upland plantings on soil N_(2)O emissions.The results revealed that during the rapeseed-cultivated seasons in the RR rotation system,the average N_(2)O emissions were 1.24±0.20 and 0.81±0.11 kg N ha^(–1)for the first and second seasons,respectively.These values were comparable to the N_(2)O emissions observed during the first and second wheat-cultivated seasons in the WR rotation system(0.98±0.25 and 0.70±0.04 kg N ha^(–1),respectively).This suggests that upland cultivation has minimal impacts on soil N_(2)O emissions in the two rotation systems.Strong positive correlations were found between N_(2)O fluxes and soil ammonium(NH_(4)^(+)),nitrate(NO_(3)^(–)),microbial biomass nitrogen(MBN),and the ratio of soil dissolved organic carbon(DOC)to NO_(3)^(–)in both RR and WR rotation systems.Moreover,the presence of the AOA-amoA and nirK genes were positively associated with soil N_(2)O fluxes in the RR and WR systems,respectively.This implies that these genes may have different potential roles in facilitating microbial N_(2)O production in various upland plantation models.By using a structural equation model,we found that soil moisture,mineral N,MBN,and the AOA-amoA gene accounted for over 50%of the effects on N_(2)O emissions in the RR rotation system.In the WR rotation system,soil moisture,mineral N,MBN,and the AOA-amoA and nirK genes had a combined impact of over 70%on N_(2)O emissions.These findings demonstrate the interactive effects of functional genes and soil factors,including soil physical characteristics,available carbon and nitrogen,and their ratio,on soil N_(2)O emissions during upland cultivation seasons under rice-upland rotations. 展开更多
关键词 upland-rice cultivation N_(2)O emission regulatory factors functional genes
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Conjugated linoleic acid isomers and their precursor fatty acids regulate peroxisome proliferator-activated receptor subtypes and major peroxisome proliferator responsive element-bearing target genes in HepG2 cell model 被引量:1
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作者 Sailas BENJAMIN Silke FLOTHO +1 位作者 Torsten BRCHERS Friedrich SPENER 《Journal of Zhejiang University-Science B(Biomedicine & Biotechnology)》 SCIE CAS CSCD 2013年第2期115-123,共9页
The purpose of this study was to examine the induction profiles (as judged by quantitative reverse tran- scription polymerase chain reaction (qRT-PCR)) of peroxisome proliferator-activated receptor (PPAR) α,β,... The purpose of this study was to examine the induction profiles (as judged by quantitative reverse tran- scription polymerase chain reaction (qRT-PCR)) of peroxisome proliferator-activated receptor (PPAR) α,β, y subtypes and major PPAR-target genes bearing a functional peroxisome proliferator responsive element (PPRE) in HepG2 cell model upon feeding with cis-9,trans-11-octadecadienoic acid (9-CLA) or trans-10,cis-12-octadecadienoic acid (10-CLA) or their precursor fatty acids (FAs). HepG2 cells were treated with 100 pmol/L 9-CLA or 10-CLA or their precursor FAs, viz., oleic, linoleic, and trans-11-vaccenic acids against bezafibrate control to evaluate the induc- tion/expression profiles of PPAR (α, β, γ subtypes and major PPAR-target genes bearing a functional PPRE, i.e., fatty acid transporter (FAT), glucose transporter-2 (GLUT-2), liver-type FA binding protein (L-FABP), acyl CoA oxidase-1 (ACOX-1), and peroxisomal bifunctional enzyme (PBE) with reference to β-actin as house keeping gene. Of the three housekeeping genes (glyceraldehyde 3-phosphate dehydrogenase (GAPDH), β-actin, and ubiquitin), β-actin was found to be stable. Dimethyl sulfoxide (DMSO), the common solubilizer of agonists, showed a significantly higher induction of genes analyzed, qRT-PCR profiles of CLAs and their precursor FAs clearly showed upregulation of FAT, GLUT-2, and L-FABP (-0.5-.0-fold). Compared to 10-CLA, 9-CLA decreased the induction of the FA metabolizing gene ACOX-1 less than did PBE, while 10-CLA decreased the induction of PBE less than did ACOX-I. Both CLAs and precursor FAs upregulated PPRE-beadng genes, but with comparatively less or marginal activation of PPAR subtypes This indicates that the binding of CLAs and their precursor FAs to PPAR subtypes results in PPAR activation, thereby induction of the target transporter genes coupled with downstream lipid metabolising genes such as ACOX-1 and PBE. To sum up, the expression profiles of these candidate genes showed that CLAs and their precursor FAs are involved in lipid signalling by modulating the PPAR a, 13, or ~ subtype for the indirect activation of the PPAR-target genes, which may in turn be responsible for the supposed health effects of CLA, and that care should be taken while calculating the actual fold induction values of candidate genes with reference to housekeeping gene and DMSO as they may impart false positive results. 展开更多
关键词 Conjugated linoleic acid HepG2 cell model QRT-PCR Peroxisome proliferator-activated receptor Peroxisome proliferator responsive element-bearing genes Lipid agonists
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PDRG1 at the interface between intermediary metabolism and oncogenesis 被引量:3
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作者 Maríaángeles Pajares 《World Journal of Biological Chemistry》 CAS 2017年第4期175-186,共12页
PDRG1 is a small oncogenic protein of 133 residues. In normal human tissues, the p53 and DNA damageregulated gene 1(PDRG1) gene exhibits maximal expression in the testis and minimal levels in the liver. Increased expr... PDRG1 is a small oncogenic protein of 133 residues. In normal human tissues, the p53 and DNA damageregulated gene 1(PDRG1) gene exhibits maximal expression in the testis and minimal levels in the liver. Increased expression has been detected in several tumor cells and in response to genotoxic stress. High-throughput studies identified the PDRG1 protein in a variety of macromolecular complexes involved in processes that are altered in cancer cells. For example, this oncogene has been found as part of the RNA polymerase Ⅱ complex, the splicing machinery and nutrient sensing machinery, although its role in these complexes remains unclear. More recently, the PDRG1 protein was found as an interaction target for the catalytic subunits of methionine adenosyltransferases. These enzymes synthesize S-adenosylmethionine, the methyl donor for, among others, epigenetic methylations that occur on the DNA and histones. In fact, downregulation of S-adenosylmethionine synthesis is the first functional effect directly ascribed to PDRG1. The existence of global DNA hypomethylation, together with increased PDRG1 expression, in many tumor cells highlights the importance of this interaction as one of the putative underlying causes for cell transformation. Here, we will review the accumulated knowledge on this oncogene, emphasizing the numerous aspects that remain to be explored. 展开更多
关键词 Epigenetic modifications GLUTATHIONE Methylation ONCOgenes Intermediary metabolism p53 and DNA damage-regulated gene 1 Protein complexes R2TP/prefoldin complex S-adenosylmethionine synthesis Redox stress
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Sequence Analysis of Type III Effector tccP and tccP2 Genes in Escherichia coli O157:H7 from Chinese Water-chestnut
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作者 张雪寒 叶青 +1 位作者 刘亚栋 何孔旺 《Agricultural Science & Technology》 CAS 2013年第2期202-205,共4页
[Objective] This study aimed to analyze the type III effector tccP and tccP2 genes in Escherichia coli O157:H7 from Chinese water-chestnut. [Method] Gene-specific and locus-specific primers were utilized to amplify t... [Objective] This study aimed to analyze the type III effector tccP and tccP2 genes in Escherichia coli O157:H7 from Chinese water-chestnut. [Method] Gene-specific and locus-specific primers were utilized to amplify tccP/tccP2 and their flanking regions for sequence analysis. [Result] E. coli O157:H7 CWN11 harbored intact tccP and tccP2 genes, however, the number of proline-rich repeats in tccP gene was only one that probably resulted in biological incapability, whereas, the tccP2 gene consisted of five and half proline-rich repeats and could encode functional protein. [Conclusion] Here, we reported the first sequence of tccP gene that consisted of only one proline-rich repeat and tccP2 was assumed to play a crucial role in colonization and subsequent signaling cascades. 展开更多
关键词 EHEC O157:H7 Chinese water-chestnut tccP gene tccP2 gene proline-rich repeats
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Cloning and Phylogenetic Analysis of NS1 Genes from Different Isolates of H9N2 Subtype Duck Influenza Virus
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作者 谢青梅 张祥斌 +3 位作者 吴志强 冀君 周科 毕英佐 《Agricultural Science & Technology》 CAS 2009年第1期64-67,126,共5页
[ Objective] The study aimed to lay a foundation for the further studies on function mechanism of NS1 protein in the interspecies transmission of waterfowl influenza virus. [Method] Using the serologic assay and the s... [ Objective] The study aimed to lay a foundation for the further studies on function mechanism of NS1 protein in the interspecies transmission of waterfowl influenza virus. [Method] Using the serologic assay and the specific RT-PCR method, some strains of H9 subtype waterfowl influenza virus were isolated from the 12 to 20 day-old muscovy duck flocks without any clinical symptoms in different areas of Guangdong Province. Four of these strains, including A/duck/ZQ/303/2007(H9N2) (A3 for short), A/Duck/FJ/301/2007 (H9N2) (C1 for short), A/Duck/NH/306/2007(H9N2) ( D6 for short), A/duck/SS/402/2007(H9N2) ( E2 for short), and a strain named A/duck/ZC/2007(H9N2) (L1 for short) from a muscovy duck died of avian influenza virus (AIV), were used for NSl gene cloning and sequencing. Subsequently, the obtained NSl gene sequences were compared with other NS1 sequences registered in GenBank, and the phylogenetic analysis was also conducted. [Result] When compared with the H9N2 AIV NS1 sequences in GenBank, the NSl genes of the four AIV strains A3, C1, 136 and E2 displayed homologies ranging from 99% to 100% at nucleotide level, and 95% to 100% at amino acid level; while the NSl gene of L1 strain displayed homology ranging from 94% to 97% at nucleotide level, and 93% to 98% at amino acid level. The phylogenetic tree demonstrated that A3, C1, D6 and E2 were highly resemblant, and L1 was closest to AY66473 (chicken, 2003). By comparison with the NS1 gene sequences of L1, AF523514 (duck), AY664743 (chicken) and EF155262.1 (quail) using DNAstar, A3, C1, D6 and E.2 presented nucleotide variations at site 21 ( R→Q), 70, 71 ( KE→EG), 86 ( A→S), 124 (V→M) and 225 ( S→N), and amino acid variations at site 21,70, 71 and 86 in dsRNA- dependent protein kinase (PKR) binding domain of NSl gene, which induced the evident variations of antigenic determinant and surface proba- bility plot of NS1 protein. [ Conclusion] This study suggested that the amino acid sequence variation in PKR binding domain of NS1 protein had something to do with the virus pathogenicity. 展开更多
关键词 H9N2 subtype Duck influenza virus NS1 gene PKR Phylogenetic analysis
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THE EXPRESSIONS OF HBV X GENE AND ets-2, IGF-Ⅰ, c-myc AND N-ras ONCOGENES IN HUMAN HEPATOCELLULAR CARCINOMA AND TUMOR-ADJACENT TISSUES 被引量:1
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作者 连兆瑞 吴孟超 +3 位作者 万大方 徐国威 周筱梅 顾健人 《Chinese Journal of Cancer Research》 SCIE CAS CSCD 1990年第3期15-19,共5页
The expressions of HBV X gene and ets-2, IGF-I, c-myc and N-ras were studied in 7 pairs of human primary hepatocellular carcinoma (PHC) and tumor-adjacent tissues, using RNA hybridization and im-munoblot methods. The ... The expressions of HBV X gene and ets-2, IGF-I, c-myc and N-ras were studied in 7 pairs of human primary hepatocellular carcinoma (PHC) and tumor-adjacent tissues, using RNA hybridization and im-munoblot methods. The results showed that specific 17 and 28 kD HBV X gene products (HBxAg) were existed in a portion of PHC and tumor-adjacent tissues. The 17 kD HBxAg was detected in the sera of 3 patients who also had 17 kD HBxAg in their liver tissues. Multiple expressions of oncogenes such as ets-2, c-myc and N-ras were observed in PHC and tumor-adjacent tissues that had HBxAg expressed, indicating HBxAg might function as a transactivator in the course of intracellular proto-oncogene activation. It is also observed that in some tumor-adjacnet tissues the expressions of ets-2, c-myc and N-ras were higher than those in corresponding PHC. The relationship of HBxAg to the expression of est-2, IGF-Ⅱ, c-myc and their possible roles in the carcinogenesis of PHC are discussed. 展开更多
关键词 PHC IGF c-myc AND N-ras ONCOgenes IN HUMAN HEPATOCELLULAR CARCINOMA AND TUMOR-ADJACENT TISSUES THE EXPRESSIONS OF HBV X GENE AND ets-2 HBV
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Profiling of gene fusion involving targetable genes in Chinese gastric cancer
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作者 Zhen-Hua Liu Bo-Wen Zhu +11 位作者 Min Shi Yu-Rong Qu Xun-Jun He Hong-Ling Yuan Jie Ma Wei Li Dan-Dan Zhao Zheng-Chuang Liu Bao-Ming Wang Chun-Yang Wang Hou-Quan Tao Tong-Hui Ma 《World Journal of Gastrointestinal Oncology》 SCIE 2022年第8期1528-1539,共12页
BACKGROUND Approximately half of all new cases of gastric cancer(GC)and related deaths occur in China.More than 80%of patients with GC are diagnosed at an advanced stage,which results in poor prognosis.Although HER2-d... BACKGROUND Approximately half of all new cases of gastric cancer(GC)and related deaths occur in China.More than 80%of patients with GC are diagnosed at an advanced stage,which results in poor prognosis.Although HER2-directed therapy and immune checkpoint inhibitors have been somewhat successful,new drugs are still needed for the treatment of GC.Notably,several gene fusion-targeted drugs have been approved by the United States Food and Drug Administration for solid tumors,including GC,such as larotrectinib for NTRK fusion-positive cancers and zenocutuzumab for NRG1 fusion-positive cancers.However,gene fusions involving targetable genes have not been well characterized in Chinese patients with GC.AIM To identify the profile of fusions involving targetable genes in Chinese patients with GC using clinical specimens and determine the distribution of patients with gene fusion variants among the molecular subtypes of GC.METHODS We retrospectively analyzed gene fusion events in tumor tissue samples from 954 Chinese patients with GC.Clinicopathological characteristics were obtained from their medical records.Genetic alterations,such as single nucleotide variants,indels,amplifications,and gene fusions,were identified using a targeted sequencing panel containing 825 genes.Fusions were validated by fluorescence in situ hybridization(FISH)using break-apart probes.The microsatellite instability(MSI)status was evaluated using MSIsensor from the targeted sequencing panel data.Tumor mutational burden(TMB)was calculated using the total number of nonsynonymous mutations divided by the total genomic targeted region.Chi-square analysis was used to determine the enrichment of gene fusions associated with the molecular subtypes of GC.RESULTS We found that 1.68%(16/954)of patients harbored 20 fusion events involving targetable genes.RARA fusions(n=5)were the most common,followed by FGFR2,BRAF,MET,FGFR3,RET,ALK,EGFR,NTRK2,and NRG1 fusions.Two of the RARA fusions,EML4-ALK(E6:E20)and EGFRSEPTIN14(E7:E10),have been identified in other tumors but not in GC.Surprisingly,18 gene fusion events were previously not reported in any cancer types.Twelve of the eighteen novel gene fusions included complete exons encoding functional domains of targetable genes,such as the tyrosine kinase domain of receptor tyrosine kinases and the DNA-and ligand-binding domains of RARA.Consistent with the results of detection using the targeted sequencing fusion panel,the results of FISH(fluorescence in situ hybridization)confirmed the rearrangement of FGFR2 and BRAF in tumors from patients 04 and 09,respectively.Genetic analysis indicated that the fusion genes were significantly enriched in patients with ERBB2 amplification(P=0.02);however,there were no significant differences between fusion-positive and fusion-negative patients in age,sex,MSI status,and TMB.CONCLUSION We characterized the landscape of fusions involving targetable genes in a Chinese GC cohort and found that 1.68%of patients with GC harbor potential targetable gene fusions,which were enriched in patients with ERBB2 amplification.Gene fusion detection may provide a potential treatment strategy for patients with GC with disease progression following standard therapy. 展开更多
关键词 Gene fusion Targetable genes Gastric cancer Chinese population ERBB2 amplification
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