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AAV2-PDE6B restores retinal structure and function in the retinal degeneration 10 mouse model of retinitis pigmentosa by promoting phototransduction and inhibiting apoptosis
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作者 Ruiqi Qiu Mingzhu Yang +5 位作者 Xiuxiu Jin Jingyang Liu Weiping Wang Xiaoli Zhang Jinfeng Han Bo Lei 《Neural Regeneration Research》 SCIE CAS 2025年第8期2408-2419,共12页
Retinitis pigmentosa is a group of inherited diseases that lead to retinal degeneration and photoreceptor cell death.However,there is no effective treatment for retinitis pigmentosa caused by PDE6B mutation.Adeno-asso... Retinitis pigmentosa is a group of inherited diseases that lead to retinal degeneration and photoreceptor cell death.However,there is no effective treatment for retinitis pigmentosa caused by PDE6B mutation.Adeno-associated virus(AAV)-mediated gene therapy is a promising strategy for treating retinitis pigmentosa.The aim of this study was to explore the molecular mechanisms by which AAV2-PDE6B rescues retinal function.To do this,we injected retinal degeneration 10(rd10)mice subretinally with AAV2-PDE6B and assessed the therapeutic effects on retinal function and structure using dark-and light-adapted electroretinogram,optical coherence tomography,and immunofluorescence.Data-independent acquisition-mass spectrometry-based proteomic analysis was conducted to investigate protein expression levels and pathway enrichment,and the results from this analysis were verified by real-time polymerase chain reaction and western blotting.AAV2-PDE6B injection significantly upregulated PDE6βexpression,preserved electroretinogram responses,and preserved outer nuclear layer thickness in rd10 mice.Differentially expressed proteins between wild-type and rd10 mice were closely related to visual perception,and treating rd10 mice with AAV2-PDE6B restored differentially expressed protein expression to levels similar to those seen in wild-type mice.Kyoto Encyclopedia of Genes and Genome analysis showed that the differentially expressed proteins whose expression was most significantly altered by AAV2-PDE6B injection were enriched in phototransduction pathways.Furthermore,the phototransductionrelated proteins Pde6α,Rom1,Rho,Aldh1a1,and Rbp1 exhibited opposite expression patterns in rd10 mice with or without AAV2-PDE6B treatment.Finally,Bax/Bcl-2,p-ERK/ERK,and p-c-Fos/c-Fos expression levels decreased in rd10 mice following AAV2-PDE6B treatment.Our data suggest that AAV2-PDE6B-mediated gene therapy promotes phototransduction and inhibits apoptosis by inhibiting the ERK signaling pathway and upregulating Bcl-2/Bax expression in retinitis pigmentosa. 展开更多
关键词 APOPTOSIS AAV2-PDE6b ERK1/2 gene therapy PHOTOTRANSDUCTION PROTEOMICS rd10 retinitis pigmentosa
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XAGE-1b基因在非小细胞肺癌中的表达及与临床特点的相关性研究 被引量:4
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作者 周清 郭爱林 +3 位作者 安社娟 徐崇锐 杨素清 吴一龙 《南方医科大学学报》 CAS CSCD 北大核心 2007年第7期966-968,972,共4页
目的探讨XAGE-1b基因在非小细胞肺癌中的表达水平及与临床特点的相关性。方法非小细胞肺癌患者30例,通过手术获得肺癌组织和癌旁正常肺组织,分别提取组织总RNA,RT-PCR反应扩增XAGE-1b基因全长,通过电泳和基因测序鉴定RT-PCR产物,确定基... 目的探讨XAGE-1b基因在非小细胞肺癌中的表达水平及与临床特点的相关性。方法非小细胞肺癌患者30例,通过手术获得肺癌组织和癌旁正常肺组织,分别提取组织总RNA,RT-PCR反应扩增XAGE-1b基因全长,通过电泳和基因测序鉴定RT-PCR产物,确定基因表达阳性标本,分析基因表达阳性率及与临床特征相关性。结果30例肺癌组织中,XAGE-1b基因表达阳性率为40%(12/30),30例癌旁正常肺组织不表达该基因;基因表达与患者年龄、性别、肿瘤分化程度无相关性,与病理类型有相关性,腺癌中基因表达阳性率明显高于其他病理类型(61.1%vs8.3%,P=0.015);随着TNM分期的升高,基因表达阳性率略有增加,但差异无统计学意义(P>0.05)。结论XAGE-1b基因在肺腺癌中高表达,可优先选择该基因作为肺腺癌免疫治疗靶点。 展开更多
关键词 xage-1b基因 肺肿瘤 临床特点 相关性研究
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XAGE-1b基因在唾液腺腺样囊性癌转移中的作用 被引量:7
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作者 秦兴军 杨捷琳 +3 位作者 朱乃硕 张陈平 关晓峰 孙长伏 《中国口腔颌面外科杂志》 CAS 2008年第1期43-47,共5页
目的:探讨肿瘤睾丸抗原家族中XAGE-1b基因在唾液腺腺样囊性癌高转移细胞ACC-M中的高表达是否与其转移相关。方法:采用RNA干扰方法抑制腺样囊性癌低、高转移细胞ACC-2、ACC-M中XAGE-1b基因的表达,检测该基因表达改变对肿瘤细胞体外迁移... 目的:探讨肿瘤睾丸抗原家族中XAGE-1b基因在唾液腺腺样囊性癌高转移细胞ACC-M中的高表达是否与其转移相关。方法:采用RNA干扰方法抑制腺样囊性癌低、高转移细胞ACC-2、ACC-M中XAGE-1b基因的表达,检测该基因表达改变对肿瘤细胞体外迁移能力以及裸鼠体内肿瘤细胞肺转移能力的影响。实验结果采用SPSS11.5软件包进行单因素方差分析。结果:XAGE-1b基因干扰质粒转染腺样囊性癌细胞后,RT-PCR验证干扰效率显示,XAGE-1b基因表达量显著下降;Boyden小室检测肿瘤细胞体外迁移能力明显下降;在裸鼠体内检测基因干扰后的肿瘤细胞肺转移能力与ACC-M相比也显著下降(P<0.01)。结论:RNA干扰作用抑制了XAGE-1b基因的表达,体外实验和体内检测中显著影响了肿瘤细胞的迁移黏附以及肺转移能力,初步证实了XAGE-1b基因在唾液腺腺样囊性癌转移方面有重要作用。 展开更多
关键词 唾液腺腺样囊性癌 转移 RNA干扰 XAGE—1b基因
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XAGE-1b在前列腺癌患者血清中的表达及其与Gleason评分的相关性 被引量:7
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作者 谢冲 黄其伟 +2 位作者 唐群业 王国民 曾钢 《复旦学报(医学版)》 CAS CSCD 北大核心 2014年第4期454-457,共4页
目的 检测XAGE-1b在前列腺癌患者血清中的表达情况,研究其与Gleason评分的相关性.方法 收集1 55例前列腺癌患者、131例良性前列腺增生(benign prostatic hyperplasia,BPH)患者和178例健康人群的血清,用Luminex液相芯片法检测XAGE-1b... 目的 检测XAGE-1b在前列腺癌患者血清中的表达情况,研究其与Gleason评分的相关性.方法 收集1 55例前列腺癌患者、131例良性前列腺增生(benign prostatic hyperplasia,BPH)患者和178例健康人群的血清,用Luminex液相芯片法检测XAGE-1b和前列腺癌特异性抗原(prostate specific antigen,PSA)的表达水平,同时确定XAGE-1b的正常值范围,计算XAGE-1b抗原表达阳性率、特异性和敏感度.Western blot法验证阳性血清,并分析其与Gleason评分的相关性.结果 XAGE-1b在前列腺癌和BPH患者血清中的阳性表达率分别为52.3%和8.4%,两组数据之间差异有统计学意义(P=0.021).以BPH患者组为对照,XAGE-1b检测前列腺癌的敏感性和特异性分别为90.1%和52.9%;其中,在PSA水平为4~10 ng/mL的人群中XAGE 1b检测前列腺癌的敏感度和特异性分别为70.4%和48.4%.Spearman等级相关分析线显示XAGE-1b与Gleason评分呈正相关(r=0.891).结论 XAGE-1b在前列腺癌患者血清中有较高表达,XAGE-1b抗原的表达水平与Gleason评分之间呈正相关. 展开更多
关键词 前列腺癌 xage-1b GLEASON评分 诊断
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非小细胞肺癌VEGFR-2与XAGE-1b基因表达相关性研究 被引量:1
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作者 周清 安社娟 +3 位作者 严红虹 张绪超 徐崇锐 吴一龙 《循证医学》 CSCD 2011年第5期312-316,共5页
目的探讨非小细胞肺癌中血管内皮生长因子受体-2(VEGFR-2)与肿瘤-睾丸抗原XAGE-1b基因表达的相关性。方法从30例非小细胞肺癌患者肿瘤组织中提取总RNA、RT-PCR反应扩增XAGE-1b基因、定量RT-PCR检测VEGFR-2表达水平,分析二者表达的相关... 目的探讨非小细胞肺癌中血管内皮生长因子受体-2(VEGFR-2)与肿瘤-睾丸抗原XAGE-1b基因表达的相关性。方法从30例非小细胞肺癌患者肿瘤组织中提取总RNA、RT-PCR反应扩增XAGE-1b基因、定量RT-PCR检测VEGFR-2表达水平,分析二者表达的相关性以及与临床特征的相关性。结果 30例患者中,XAGE-1b表达阳性率为40%,61.1%的腺癌表达XAGE-1b,远高于非腺癌的8.3%(χ2=6.302,P=0.012)。XAGE-1b与VEGFR-2表达水平呈正相关(r=0.546,P=0.002),XAGE-1b阳性患者的VEGFR-2表达水平偏高。多元回归分析显示,病理类型(比值比0.072,95%可信区间0.007~0.785,P=0.031)和VEGFR-2表达水平(比值比14.765,95%可信区间1.274~171.144,P=0.031)是XAGE-1b表达的影响因素。XAGE-1b表达阳性与阴性、VEGFR-2表达高与低患者的生存时间差异均无统计学意义(Log-rankP=0.416、P=0.384)。结论非小细胞肺癌中VEGFR-2与XAGE-1b基因表达呈正相关,XAGE-1b表达阳性并且VEGFR-2高表达的患者可能是免疫疗法与抗血管生成疗法联合治疗的合适人群。 展开更多
关键词 非小细胞肺癌 血管内皮生长因子受体-2(VEGFR-2) xage-1b
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LncRNA PVT1对弥漫大B细胞淋巴瘤细胞活性的影响及其机制
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作者 路晓辉 李文永 +1 位作者 王孟林 陈香莉 《青岛大学学报(医学版)》 CAS 2024年第3期381-387,共7页
目的 探究长链非编码RNA(LncRNA)浆细胞瘤变体异位基因1(PVT1)对弥漫大B细胞淋巴瘤(DLBCL)细胞生物学行为的影响,并分析其潜在机制。方法 收集41例DLBCL病人和15例淋巴结反应性增生(RLH)病人的组织标本,体外培养人正常B淋巴细胞GM12878... 目的 探究长链非编码RNA(LncRNA)浆细胞瘤变体异位基因1(PVT1)对弥漫大B细胞淋巴瘤(DLBCL)细胞生物学行为的影响,并分析其潜在机制。方法 收集41例DLBCL病人和15例淋巴结反应性增生(RLH)病人的组织标本,体外培养人正常B淋巴细胞GM12878和人DLBCL细胞(OCI-Ly3、U2932、TMD8),对TMD8细胞进行转染,将其分为control组(只转染Lipofectamine-2000)、si-NC组(转染si-NC)、inhibitor-NC组(转染inhibitor-NC)、si-PVT1组(转染si-PVT1)、miR-145-5p inhibitor组(转染miR-145-5p inhibitor)、si-PVT1+miR-145-5p inhibitor组(转染si-PVT1和miR-145-5p inhibitor)。应用qRT-PCR方法检测各组细胞PVT1 mRNA和miR-145-5p表达,Western Blot方法检测CDK6蛋白表达,CCK-8法检测TMD8细胞增殖,流式细胞术检测TMD8细胞周期变化,Transwell实验检测TMD8细胞迁移和侵袭能力,RNA pull down和双荧光素酶报告基因法验证PVT1、miR-145-5p与细胞周期蛋白依赖性激酶6(CDK6)的靶向关系。结果 DLBCL组织PVT1 mRNA、CDK6蛋白的表达水平高于RLH组织,miR-145-5p表达低于RLH组织(t=14.264~24.445,P<0.05)。与GM12878细胞比较,OCI-Ly3、U2932、TMD8细胞中PVT1 mRNA、CDK6蛋白表达均增加,miR-145-5p表达均减少(F=69.557~234.718,P<0.05)。6组细胞PVT1 mRNA、miR-145-5p、CDK6蛋白表达及增殖率、G0/G1期细胞比例、S期细胞比例、迁移和侵袭细胞数差异有统计学意义(F=25.589~319.150,P<0.05);与control组比较,si-PVT1组细胞PVT1 mRNA、CDK6蛋白、增殖率、S期细胞比例、迁移和侵袭数量降低,miR-145-5p表达、G0/G1期细胞比例升高(P<0.05),miR-145-5p inhibitor组呈相反变化(P<0.05);下调miR-145-5p表达可减弱敲低PVT1对TMD8细胞恶性生物学行为的抑制作用(P<0.05)。过表达PVT1 mRNA增高CDK6蛋白表达、细胞增殖率、S期细胞比例、迁移和侵袭数量,降低miR-145-5p表达、G0/G1期的细胞比例(F=38.025~327.887,P<0.05)。miR-145-5p是PVT1的靶基因,且miR-145-5p可靶向下调CDK6表达。结论 敲低PVT1可抑制DLBCL细胞恶性生物学行为,其作用机制可能与调控miR-145-5p/CDK6轴有关。 展开更多
关键词 淋巴瘤 b细胞 弥漫性 RNA 长链非编码 浆细胞瘤变体异位基因1 miR-145-5p 细胞周期蛋白依赖激酶6
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血清SIRT1、Fibulin-5、Bcl-2/Bax与颈动脉粥样硬化斑块破裂所致脑梗死的关系及联合检测价值
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作者 代建霞 刘媛 于媛媛 《脑与神经疾病杂志》 CAS 2024年第6期336-341,共6页
目的 探讨血清沉默信息调节蛋白1 (SIRT1)、衰老关键蛋白抗原-5 (Fibulin-5)、B淋巴细胞瘤基因-2(Bcl-2)/B淋巴细胞瘤基因-2相关X蛋白(Bax)与颈动脉粥样硬化(CAS)斑块破裂所致脑梗死(ACI)的关系及联合检测价值。方法 选取新疆维吾尔自... 目的 探讨血清沉默信息调节蛋白1 (SIRT1)、衰老关键蛋白抗原-5 (Fibulin-5)、B淋巴细胞瘤基因-2(Bcl-2)/B淋巴细胞瘤基因-2相关X蛋白(Bax)与颈动脉粥样硬化(CAS)斑块破裂所致脑梗死(ACI)的关系及联合检测价值。方法 选取新疆维吾尔自治区人民医院2021年1月至2023年2月CAS斑块破裂所致ACI患者98例作为研究组,另选取同期CAS斑块未破裂患者98例作为对照组,比较两组血清SIRT1、Fibulin-5、Bcl-2、Bax水平,分析各血清指标对CAS斑块破裂所致ACI风险的影响及与病情的关系,并评价各血清学指标单独及联合预测CAS斑块破裂所致ACI的价值。结果 研究组血清SIRT1、Bcl-2水平低于对照组,Fibulin-5、Bax水平高于对照组(P<0.05);大面积梗死(MCI)患者血清SIRT1、Bcl-2水平<小面积梗死患者<腔隙性梗死(LI)患者,Fibulin-5、Bax水平>小面积梗死患者> LI患者(P<0.05);重度神经功能缺损患者血清SIRT1、Bcl-2水平<中度神经功能缺损患者<轻度神经功能缺损患者,Fibulin-5、Bax水平>中度神经功能缺损患者>轻度神经功能缺损患者(P<0.05);血清SIRT1、Bcl-2低水平患者CAS斑块破裂所致ACI风险是高水平患者的2.311倍、2.921倍,Fibulin-5、Bax高水平患者CAS斑块破裂所致ACI风险是低水平患者的3.470倍、3.184倍(P<0.05);血清SIRT1、Bcl-2与梗死面积、神经功能缺损程度呈负相关,Fibulin-5、Bax与梗死面积、神经功能缺损程度呈正相关(P<0.05);血清SIRT1、Fibulin-5、Bcl-2、Bax预测CAS斑块破裂所致ACI的AUC分别为0.716 (95%CI:0.648~0.778)、0.796 (95%CI:0.733~0.850)、0.728 (95%CI:0.660~0.789)、0.763 (95%CI:0.698~0.821),联合预测CAS斑块破裂所致ACI的AUC为0.909 (95%CI:0.860~0.945),优于各血清指标单独预测。结论 血清SIRT1、Fibulin-5、Bcl-2/Bax与CAS斑块破裂所致ACI及其病情程度密切相关,联合预测价值可靠,对临床开展防治工作具有指导意义。 展开更多
关键词 颈动脉粥样硬化斑块 脑梗死 沉默信息调节蛋白1 衰老关键蛋白抗原-5 b淋巴细胞瘤基因-2 b淋巴细胞瘤基因-2相关X蛋白
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人癌症/睾丸相关蛋白XAGE-1b原核表达载体的构建及融合蛋白的表达
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作者 郑慧玲 刘振杰 +2 位作者 陈碧 丁航 刘新光 《广东医学院学报》 2014年第4期432-434,438,共4页
目的构建人癌症/睾丸相关蛋白XAGE-1b原核表达载体及诱导XAGE-1融合蛋白表达。方法从文库质粒pACT2-XAGE-1b中利用PCR法扩增XAGE-b cDNA编码序列,将其克隆到pET-32a载体中,并将重组质粒pET-32bXAGE-1b转染大肠杆菌DE3中,用异丙基硫代半... 目的构建人癌症/睾丸相关蛋白XAGE-1b原核表达载体及诱导XAGE-1融合蛋白表达。方法从文库质粒pACT2-XAGE-1b中利用PCR法扩增XAGE-b cDNA编码序列,将其克隆到pET-32a载体中,并将重组质粒pET-32bXAGE-1b转染大肠杆菌DE3中,用异丙基硫代半乳糖苷(IPTG)诱导表达,Western blot检测融合蛋白表达。结果原核表达载体pET-32a-XAGE-1b构建成功;转染菌株经IPTG诱导后,出现约29 kD蛋白过表达,Western-blot检测显示His6融合蛋白表达。结论成功构建原核表达载体pET-32a-XAGE-1b,转染菌株可表达His6融合蛋白。 展开更多
关键词 xage-1b 原核表达 融合蛋白
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XAGE-1b基因在肝癌细胞中的表达
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作者 吴涛 李中文 鲍明升 《求医问药(下半月)》 2013年第6期87-88,共2页
目的:探讨XAGE-1b基因在肝癌细胞中的表达。方法:选择肝癌患者44例,通过手术获得肝癌组织和癌旁正常组织,分别提取组织总RNA、RT-PCR反应扩增XAGE-1b基因全长,通过电泳和基因测序鉴定RT-PCR产物,确定基因表达阳性标本,分析基因表达阳性... 目的:探讨XAGE-1b基因在肝癌细胞中的表达。方法:选择肝癌患者44例,通过手术获得肝癌组织和癌旁正常组织,分别提取组织总RNA、RT-PCR反应扩增XAGE-1b基因全长,通过电泳和基因测序鉴定RT-PCR产物,确定基因表达阳性标本,分析基因表达阳性率。结果:44例肝癌组织中,XAGE-1b基因表达阳性率为43.18%(19/44),44例癌旁正常组织不表达该基因。结论:XAGE-1b基因在肝癌细胞中高表达,可考虑进一步研究该基因调控肝癌细胞恶性行为的机制。 展开更多
关键词 xage-1b 肝癌 表达
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敲减XAGE-1b基因表达降低ACCM和A673肿瘤细胞的增殖能力 被引量:2
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作者 彭思扬 宋玉亮 +1 位作者 王晨滔 朱乃硕 《中国生物化学与分子生物学报》 CAS CSCD 北大核心 2009年第7期641-648,共8页
XAGE是通过生物信息学方法发现的新一类肿瘤-睾丸抗原(cancer/testis antigen,CT抗原)基因,其主要表达亚型为XAGE-1b.已有的研究表明,该基因可能与肿瘤细胞的生长相关.本研究构建了针对XAGE-1b进行RNA干扰的重组腺病毒载体Adv-Sh1和Adv-... XAGE是通过生物信息学方法发现的新一类肿瘤-睾丸抗原(cancer/testis antigen,CT抗原)基因,其主要表达亚型为XAGE-1b.已有的研究表明,该基因可能与肿瘤细胞的生长相关.本研究构建了针对XAGE-1b进行RNA干扰的重组腺病毒载体Adv-Sh1和Adv-Sh2.半定量和定量RT-PCR显示,Adv-Sh1比Adv-Sh2对XAGE-1b的干扰效率更高.细胞荧光干扰实验显示,Adv-Sh1对XAGE-1b有显著的干扰作用.在细胞增殖和集落形成实验中,感染Adv-Sh1后的细胞增殖能力显著降低(P<0.01),形成的单克隆集落数也显著减少.研究结果表明,下调XAGE-1b基因表达使ACCM和A673肿瘤细胞的增殖能力均有降低,提示XAGE-1b在肿瘤生长过程中可能发挥重要作用.本研究为进一步深入研究XAGE-1b的功能和致癌机制打下了良好基础. 展开更多
关键词 肿瘤-睾丸抗原(CT抗原) xage-1b 腺病毒 RNA干扰
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XAGE-1b基因在非小细胞肺癌中的表达水平及与临床特点的关系研究
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作者 张丽 《中国科技期刊数据库 医药》 2021年第8期16-18,共3页
通过观察非小细胞肺癌中XAGE-1b基因表达情况,探讨该基因与患者病理特点的关系。方法:以45例非小细胞肺癌患者为研究对象,提取病灶组织和病灶旁正常组织,予以总DNA提取和基因全长扩增,逆转录-聚合酶链反应产物通过电泳进而基因测序获取... 通过观察非小细胞肺癌中XAGE-1b基因表达情况,探讨该基因与患者病理特点的关系。方法:以45例非小细胞肺癌患者为研究对象,提取病灶组织和病灶旁正常组织,予以总DNA提取和基因全长扩增,逆转录-聚合酶链反应产物通过电泳进而基因测序获取,记录基因表达情况,分析阳性表达与临床特点的关系。结果:XAGE-1b基因不表达于癌旁正常组织,19例肺癌组织中,该基因呈阳性表达。对比有差异(P<0.05);该基因表达与患者分化程度和病理分期不相关,数据无差异(P>0.05);病理类型为其相关因素,其他类型中,XAGE-1b基因阳性表达均不及腺癌,对比差异明显(P<0.05)。结论:XAGE-1b基因高表达于肺腺癌患者比病灶组织中,可考虑以该基因为靶点,予以肺腺癌患者免疫治疗。 展开更多
关键词 xage-1b基因 非小细胞肺癌 临床特点 相关性 肺腺癌
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基于ChIP-Seq进行肿瘤/睾丸抗原XAGE-1b的DNA结合位点鉴定 被引量:1
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作者 高学鹏 朱嗣博 +1 位作者 赵瑞华 朱乃硕 《中国生物化学与分子生物学报》 CAS CSCD 北大核心 2014年第8期807-814,共8页
XAGE-1b(X antigen family member 1B)属于XAGE亚家族,是一种肿瘤-睾丸抗原(cancer/testis antigen,CTA),表达于正常人睾丸组织和多种类型的肿瘤细胞中.本实验室前期研究发现,该基因在涎腺腺样囊性癌高转移细胞系中呈高表达.为了进一步... XAGE-1b(X antigen family member 1B)属于XAGE亚家族,是一种肿瘤-睾丸抗原(cancer/testis antigen,CTA),表达于正常人睾丸组织和多种类型的肿瘤细胞中.本实验室前期研究发现,该基因在涎腺腺样囊性癌高转移细胞系中呈高表达.为了进一步研究XAGE-1b下游调控基因,本实验采用ChIP-Seq技术筛查XAGE-1b蛋白质可能存在的DNA结合片段.结果发现,XAGE-1b下游调控基因富集于细胞分裂(cell division,P-Value=7.95e-04)、细胞周期调控(cell cycle,P-Value=5.532e-03)、及癌症相关基因(GESA/MSigDB module_11,P-Value=2.010e-06)中.同时发现,XAGE-1b下游调控多个基因的表达产物(NCBI/interactions 22827,P-Value=4.678e-06)能与原癌基因c-Myc的启动子抑制蛋白PUF60发生蛋白质相互作用,并通过qPCR进行了验证.这些研究对阐明XAGE-1b在肿瘤细胞的增殖和转移中的作用有重要意义. 展开更多
关键词 肿瘤睾丸抗原 xage-1b 染色质免疫共沉淀测序(ChIP-Seq) PUF60 C-MYC
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Mental retardation,seizures and language delay caused by new SETD1B mutations:Three case reports 被引量:1
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作者 Le Ding Li-Wan Wei +1 位作者 Tai-Song Li Jing Chen 《World Journal of Clinical Cases》 SCIE 2024年第2期383-391,共9页
BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE S... BACKGROUND The SETD1B gene is instrumental in human intelligence and nerve development.Mutations in the SETD1B gene have been linked in recent studies to neurodevelopmental disorders,seizures,and language delay.CASE SUMMARY This study aimed to analyze the clinical manifestations and treatment of three patients suffering from mental retardation,epilepsy,and language delay resulting from a new mutation in the SETD1B gene.Three individuals with these symptoms were selected,and their clinical symptoms,gene test results,and treatment were analyzed.This article discusses the impact of the SETD1B gene mutation on patients and outlines the treatment approach.Among the three patients(two females and one male,aged 8,4,and 1,respectively),all exhibited psychomotor retardation,attention deficit,and hyperactivity disorder,and two had epilepsy.Antiepileptic treatment with sodium tripolyvalproate halted the seizures in the affected child,although mental development remained somewhat delayed.Whole exome sequencing revealed new mutations in the SETD1B gene for all patients,specifically with c.5473C>T(p.Arg1825trp),c.4120C>T(p.Gln1374*,593),c.14_15insC(p.His5Hisfs*33).CONCLUSION Possessing the SETD1B gene mutation may cause mental retardation accompanied by seizures and language delay.Although the exact mechanism is not fully understood,interventions such as drug therapy,rehabilitation training,and family support can assist patients in managing their symptoms and enhancing their quality of life.Furthermore,genetic testing supplies healthcare providers with more precise diagnostic and therapeutic guidance,informs families about genetic disease risks,and contributes to understanding disease pathogenesis and drug research and development. 展开更多
关键词 Neurodevelopmental disorder SEIZURE SETD1b gene Whole-exome sequencing New mutation Case report
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虹鳟Scarb1基因克隆、生物信息学及组织表达分析
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作者 张东强 黄进强 +3 位作者 李永娟 吴深基 赵璐 宋玉芳 《西北农业学报》 CAS CSCD 北大核心 2024年第6期1008-1018,共11页
清道夫受体B类成员1(scavenger receptor class B member 1,Scarb1)作为细胞表面的膜受体蛋白,在动物体色形成过程中发挥重要作用。为了解Scarb1基因在虹鳟(Oncorhynchus mykiss)体色形成中的作用,通过RACE技术克隆虹鳟Scarb1基因的cDN... 清道夫受体B类成员1(scavenger receptor class B member 1,Scarb1)作为细胞表面的膜受体蛋白,在动物体色形成过程中发挥重要作用。为了解Scarb1基因在虹鳟(Oncorhynchus mykiss)体色形成中的作用,通过RACE技术克隆虹鳟Scarb1基因的cDNA全长,并运用生物信息学方法分析该基因及其序列结构特征,同时使用实时定量PCR(qRT-PCR)检测Scarb1基因在虹鳟、金鳟及其杂交F_(1)代不同发育阶段和不同组织中的表达情况。结果显示,Scarb1基因cDNA序列全长为2032 bp,开放阅读框1479 bp,编码492个氨基酸,预测分子质量为55.59 ku,且存在保守的CD36结构域和2个跨膜区。序列同源性分析显示,虹鳟与其他硬骨鱼类的氨基酸序列相似度为71.69%~98.58%;进化分析发现虹鳟与大马哈鱼亲缘关系最近,与哺乳动物和两栖动物亲缘关系最远。qRT-PCR检测结果表明,在虹鳟与金鳟胚胎期及出膜后各发育阶段中Scarb1基因均有不同程度表达,且表现为受精期至桑葚期的表达显著高于其他时期(P<0.05),对虹鳟与金鳟同一时期的差异分析发现该基因在胚胎期及7 dph(days post hatch)、1 M(month post hatch)、2 M和3 M时期中表达存在显著差异(P<0.01)。Scarb1基因在虹鳟与金鳟背部皮肤和背部肌肉等色素沉着性组织中表达量较高,其中在金鳟背部皮肤的表达量显著高于虹鳟(P<0.01)。此外,Scarb1基因在杂交F_(1)代不同发育时期中的表达规律与双亲一致;在不同组织中,该基因在杂交F_(1)代背部皮肤中的表达量介于双亲之间。研究结果表明,Scarb1基因与虹鳟体色形成有着密切关系,且可能在金鳟黄色体色形成过程中发挥重要作用。 展开更多
关键词 虹鳟 体色 清道夫受体b类成员1(Scarb1) 基因克隆 表达分析
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Expression of IGF-Ⅱ,p53,p21 and HBxAg in precancerous events of hepatocarcinogenesis induced by AFBI and/or HBV in tree shrews 被引量:37
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作者 Qin LL Su JJ +3 位作者 Li Y Yang C Ban KC Yian RQ 《World Journal of Gastroenterology》 SCIE CAS CSCD 2000年第1期138-139,共2页
INTRODUCTIONIn order to study the relationship between oncogeneexpression and HCC generation,we observed theprecancerous hepatic GGT loci,IGF-Ⅱ,p53 andp21 expression during hepatocarcinogenesis of treeshrew induced b... INTRODUCTIONIn order to study the relationship between oncogeneexpression and HCC generation,we observed theprecancerous hepatic GGT loci,IGF-Ⅱ,p53 andp21 expression during hepatocarcinogenesis of treeshrew induced by hepatitis B virus (HBV) and/oraflatoxin B1 (AFB1). 展开更多
关键词 Subject heading liver neoplasms carcinoma hepatocellular hepatitis b virus IGF-Ⅱ P53 gene P21 gene HbXAG aflatoxin b1
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Anti-gastric cancer active immunity induced by FasL/B7-1 gene-modified tumor cells 被引量:14
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作者 Shi-YingZheng De-ChunLi +2 位作者 Zhi-DeZhang JunZhao Jin-FengGe 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第21期3204-3211,共8页
AIM: To study the activation of cytotoxic T lymphocytes (CTLs) against gastric cancer cells induced by FasL/B7-1 (FB-11) gene-modified tumor cells, and to explore whether co-expression of FasL and B7-1 in SGC-7901 tum... AIM: To study the activation of cytotoxic T lymphocytes (CTLs) against gastric cancer cells induced by FasL/B7-1 (FB-11) gene-modified tumor cells, and to explore whether co-expression of FasL and B7-1 in SGC-7901 tumor cells could initiate synergistic antitumor effect. METHODS: FasL and B7-1 genes were transfected into human SGC-7901 gastric cancer cells with adenovirus vectors. The positive clones were selected by G418. FasL and B7-1 genes were detected by flow cytometry and RT-PCR. Abdominal infiltrating lymphocytes and sensitized spleen cells were obtained from mice that were immunized with SGC-7901/FB-11 or wild type SGC-7901 cells intraperitoneally, and cytotoxicity of these CTLs against tumor cells was determined by MTT assay. RESULTS: Flow cytometry and RT-PCR showed that FasL and B7-1 genes were highly expressed. FasL and B7-1 transfected cancer cells had a high apoptosis index. DNA laddering suggested that FasL and B7-1 genes induced gastric cancer cell apoptosis. FasL+/B7-1+SGC-7901 cells (SGC-7901/FB-11) were inoculated subcutaneously in the dorsal skin of C57BL/6 mice and then decreased their tumorigenicity greatly (z = 2.15-46.10, P<0.01). SGC- 7901/FB-11 cell-sensitized mice obtained protective immune activity against the rechallenge of wild type SGC 7901 cells (z = 2.06-44.30, P<0.05). The cytotoxicity of CTLs induced by SGC-7901/FB-11 cells against SGC-7901 was significantly higher than that of CTLs activated by wild-type SGC-7901 cells (84.1±2.4% vs30.5±2.3%,P<0.05).CONCLUSION: FasL and B7-1 genes can effectively promote the activity of CTLs against gastric cancer cells. FasL/B7-1 molecules play an important role in CTL cytotoxicity. 展开更多
关键词 Gastric cancer FasL gene b7-1 gene gene therapy Synergistic effect
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The Effects of Dwarfing Genes (Rht-B1b, Rht-D1b, and Rht8) with Different Sensitivity to GA_3 on the Coleoptile Length and Plant Height of Wheat 被引量:14
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作者 TANG Na JIANG Ying +1 位作者 HE Bei-ru HU Yin-gang 《Agricultural Sciences in China》 CAS CSCD 2009年第9期1028-1038,共11页
Understanding the effects of wheat dwarfing genes on the coleoptile length and plant height is crucial for the proper utilization of dwarfing genes in the improvement of wheat yield. Molecular marker analysis combined... Understanding the effects of wheat dwarfing genes on the coleoptile length and plant height is crucial for the proper utilization of dwarfing genes in the improvement of wheat yield. Molecular marker analysis combined with pedigree information were used to classify wheat cultivars widely planted in major wheat growing regions in China into different categories based on the dwarfing genes they carried. The effects of the dwarfing genes with different sensitivity to gibberellins (GA3) on the coleoptile length and plant height were analyzed. Screening of 129 cultivars by molecular marker analysis revealed that 58 genotypes of wheat contained the dwarfing gene Rht-B1b, 24 genotypes of wheat contained Rht-D1b gene and 73 genotypes of wheat possessed Rht8 gene. In addition, among these 129 cultivars, 35 genotypes of wheat cultivars contained both Rht-B1b and Rht8 genes and 16 genotypes of wheat cultivars contained both Rht-D1b and Rht8 genes. Wheat cultivars with the dwarfing genes Rht-B1b or Rht-D1b were insensitive to GA3, while the cultivars with the dwarfing gene Rht8 were sensitive to GA3. Most of the wheat genotypes containing combination of Rht8 gene with either Rht-B1b or Rht-D1b gene were insensitive to GA3. The plant height was reduced by 24.6, 30.4, 28.2, and 32.2%, respectively, for the wheat cultivars containing Rht-B1b, Rht-D1b, Rht-B1b + Rht8, and Rht-D1b + Rht8 genes. The plant height was reduced by 14.3% for the wheat cultivar containing GA3-sensitive gene Rht8. The coleoptile length was shortened by 25.4, 31.3, 28.4 and 31.3%, respectively, in the wheat cultivars containing Rht-B1b, Rht-D1b, Rht-B1b +Rht8 and Rht-D1b + Rht8 genes, while the coleoptile length was shortened only by 6.2% for the wheat cultivar containing Rht8 gene. We conclude that GA3-insensitive dwarfing genes (Rht-B1b and Rht-D1b) are not suitable for the wheat improvement in dryland because these two genes have effect on reducing both plant height and coleoptile length. In contrast, GA3- sensitive dwarfing gene (Rht8) is a relatively ideal candidate for the wheat improvement since it significantly reduces the plant height of wheat, but has less effect on the coleoptile length. 展开更多
关键词 bread wheat dwarfing genes Rht-b1b Rht-D1b Rht8 coleoptile length plant height
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肝癌细胞中XAGE-1b的表达和意义
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作者 朱江 江福能 +1 位作者 戴奇山 钟惟德 《中国现代医学杂志》 CAS CSCD 北大核心 2012年第20期103-105,共3页
目的研究XAGE-1b在肝癌细胞中的表达情况,探讨其对肝癌细胞的生物行为影响。方法运用实时荧光定量PCR方法检测38例肝癌病理组织以及42例癌旁组织的XAGE-1b的基因表达水平。结果 XAGE-1b在肝癌组织中表达值为(9.139±0.768),在癌旁... 目的研究XAGE-1b在肝癌细胞中的表达情况,探讨其对肝癌细胞的生物行为影响。方法运用实时荧光定量PCR方法检测38例肝癌病理组织以及42例癌旁组织的XAGE-1b的基因表达水平。结果 XAGE-1b在肝癌组织中表达值为(9.139±0.768),在癌旁组织中表达值为(2.078±0.646),差异有统计学意义(P<0.05)。结论 XAGE-1b在肝癌发生、发展过程中可能起重要作用,有望成为反映肝癌肿瘤恶性程度及预后判断的标记物,并成为分子靶向药物治疗的靶点。 展开更多
关键词 肝癌 xage-1b RT-PCR
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Interleukin-1β gene polymorphism associated with hepatocellular carcinoma in hepatitis B virus infection 被引量:14
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作者 Nattiya Hirankarn Ingorn Kimkonq +2 位作者 Pittaya Kummee Pisit Tanqkijyanich Yong Poovorawan 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第5期776-779,共4页
AIM: To examine the effect of interleukin-l-beta (IL-113) promoter region C-511T and IL-1 receptor antagonist (IL-1RN) polymorphism among the patients with chronic hepatitis B virus (HBV) infection (HCC and no... AIM: To examine the effect of interleukin-l-beta (IL-113) promoter region C-511T and IL-1 receptor antagonist (IL-1RN) polymorphism among the patients with chronic hepatitis B virus (HBV) infection (HCC and non-HCC). METHODS: Genomic DNA from 136 Thai patients with chronic HBV infection (HCC =46 and non-HCC= 90) and 152 healthy individuals was genotyped for IL-113 gene polymorphism (-511) using polymerase chain reaction with sequence specific primers (PCR-SSP). The variable number of tandem repeats (VNTR) of IL-1RN gene was assessed by a PCR-based assay. The association between these genes and status of the disease was evaluated by X^2 test. RESULTS: IL-1B-511 genotype c/c was found to be significantly different in patients with HCC when compared with healthy individuals (P = 0.036, OR = 2.29, 95%CI = 1.05-4.97) and patients without HCC (P=0.036, OR= 2.52, 95%CI=1.05-6.04). Analysis of allele frequencies of IL-1B-511 showed that IL-1B-511 C allele was also significantly increased in patients with HCC, compared to that in healthy control (P=0.033, OR= 1.72, 95%CI=1.04-2.84). However, no significant association in IL-1RN gene was found between the two groups. CONCLUSION: IL-1B-511C allele, which may be associated with high IL-1B production in the liver, is a genetic marker for the development of HCC in chronic hepatitis B patients in Thai population. 展开更多
关键词 Interleukin-1 beta gene POLYMORPHISM Hepatocellular carcinoma Hepatitis b
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HBV X Gene Transfection Upregulates IL-1β and IL-6 Gene Expression and Induces Rat Glomerular Mesangial Cell Proliferation 被引量:12
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作者 卢宏柱 周建华 《Journal of Huazhong University of Science and Technology(Medical Sciences)》 SCIE CAS 2008年第3期247-250,共4页
The X gene of HBV encodes a 17-kD protein, termed HBx, which has been shown to function as a transcriptional trans-activator of a variety of viral and cellular promoter/enhancer elements. The aim of this study was to ... The X gene of HBV encodes a 17-kD protein, termed HBx, which has been shown to function as a transcriptional trans-activator of a variety of viral and cellular promoter/enhancer elements. The aim of this study was to investigate the effect of HBx on gene expression of interleukin (IL)-1β and IL-6, and proliferation of rat mesangial cells in vitro. The X gene of HBV was amplified by PCR assay, and inserted into the eukaryotic expression vector pCI-neo. The structure of recombinant pCI-neo-X plasmid was proved by restrict endonuclease digestion and sequencing analysis. pCI-neo-X was transfected into cultured rat mesangial cell line in vitro via liposome. HBx expression in transfected mesangial cells was detected by Western blot. The IL-1β and IL-6 mRNA expression in those cells was assayed by semiquantitative RT-PCR. Mesangial cell proliferation was tested by MTT. The results showed that HBx was obviously expressed in cultured mesangial cell line at 36th and 48th h after transfection. The expression of IL-1β and IL-6 mRNA was simultaneously increased. The cell proliferation was also obvious at the same time. It was concluded that HBx gene transfection could induce IL-1β and IL-6 gene expression and mesangial cell proliferation. HBx may play a critical role in mesangial cell proliferation through upregulation of the IL-1β and IL-6 gene expression. 展开更多
关键词 INTERLEUKIN-1Β INTERLEUKIN-6 heptitis b virus X gene mesangial cell line RAT
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