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基于TCGA数据集探讨FAT2基因在上皮性卵巢癌中的作用及机制
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作者 翟惠惠 赵洪波 +1 位作者 张琴 杨丽华 《天津医药》 CAS 2017年第12期1289-1292,共4页
目的基于肿瘤基因图谱(TCGA)数据集研究脂肪非典型钙黏蛋白2(FAT2)基因在卵巢癌中的表达情况,预测并分析FAT2在卵巢癌发生发展中的可能机制及临床价值。方法应用cbioprotal在线分析平台分析TCGA数据库中311例上皮性卵巢癌RNA-SEQ数据,... 目的基于肿瘤基因图谱(TCGA)数据集研究脂肪非典型钙黏蛋白2(FAT2)基因在卵巢癌中的表达情况,预测并分析FAT2在卵巢癌发生发展中的可能机制及临床价值。方法应用cbioprotal在线分析平台分析TCGA数据库中311例上皮性卵巢癌RNA-SEQ数据,并结合患者的完整生存期信息,采用Kaplan-Meier法分析FAT2变异与卵巢癌患者生存之间的关系。应用genecards数据库收集与FAT2基因相关的蛋白,绘制FAT2相关蛋白网络图,对相关蛋白进行富集分析,分析蛋白富集的信号通路、生理过程及关键下游基因。结果 311例卵巢癌样本中有12例发生FAT2基因变异,变异率为4%,扩增7例(2.3%),错义突变3例(1%),缺失2例(0.6%)。Kaplan-Meier生存曲线分析表明,FAT2变异组总生存时间长于无变异组(P=0.033 8),无病生存时间与无变异组差异无统计学意义(P=0.387)。与FAT2相关的蛋白有CTNNB1、ARVCF、CTNND1等21个,其中CTNNB1蛋白在卵巢癌中低表达,相关蛋白富集分析到Wnt信号通路、细胞黏附等细胞生理活动。结论 FAT2基因可能可通过诱导Wnt通路中的关键蛋白CTNNB1降解发挥抑癌基因的作用。卵巢癌组织中FAT2高表达是一种预后良好指标,可作为预测患者生存时间,判断预后的有效生物标志物。 展开更多
关键词 卵巢肿瘤 上皮性卵巢癌 fat2 WNT信号通路 cbioprotal genecards
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黑腹果蝇fat2新突变体的鉴定
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作者 孙蓉 杨敏 +5 位作者 罗俊鹏 向阳 田应雪 梁丹 魏微 张庆海 《云南农业大学学报(自然科学版)》 CAS CSCD 北大核心 2022年第6期992-998,共7页
【目的】研究突变品系MI3266的生殖能力和生殖系统形态学变化,鉴定突变品系MI3266影响的基因。【方法】通过遗传杂交检测突变品系MI3266是否可育以及MI3266雌蝇和雄蝇的育性;解剖MI3266成虫生殖系统,经DAPI染料染色观察生殖系统形态学变... 【目的】研究突变品系MI3266的生殖能力和生殖系统形态学变化,鉴定突变品系MI3266影响的基因。【方法】通过遗传杂交检测突变品系MI3266是否可育以及MI3266雌蝇和雄蝇的育性;解剖MI3266成虫生殖系统,经DAPI染料染色观察生殖系统形态学变化;利用反向PCR方法鉴定突变品系MI3266影响的基因。【结果】突变品系MI3266不可育,其雌蝇也不可育;突变品系MI3266雌蝇卵巢形态异常,14阶段卵室变圆,背侧肢异常短小;突变品系MI3266影响的基因是fat2。【结论】本研究鉴定了1个fat2新突变体,突变体雌蝇不可育,为研究fat2基因功能提供了新的突变体。 展开更多
关键词 黑腹果蝇 卵巢 平面细胞极性 fat2基因 Minos转座子
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携带FAT1-FAT2基因打靶载体构建及其在猪肾细胞的表达与功能鉴定
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作者 林纯 汤飞 李紫聪 《广东农业科学》 CAS 2021年第8期116-123,共8页
【目的】ω-3多不饱和脂肪酸(PUFAs)对人类具有重要的营养价值与医疗作用。随着生物技术的发展,通过转基因技术可实现哺乳动物体内自身合成多不饱和脂肪酸,进而改变猪肉中不饱和脂肪酸的含量和种类,对人类的营养健康具有积极意义。【方... 【目的】ω-3多不饱和脂肪酸(PUFAs)对人类具有重要的营养价值与医疗作用。随着生物技术的发展,通过转基因技术可实现哺乳动物体内自身合成多不饱和脂肪酸,进而改变猪肉中不饱和脂肪酸的含量和种类,对人类的营养健康具有积极意义。【方法】克隆猪体内缺乏的ω-3多不饱和脂肪酸脱氢酶基因FAT1和Δ-12脂肪酸去饱和酶的关键基因FAT2,构建携带FAT1-FAT2双基因的多位点打靶载体。该载体以猪rRNA基因间的内部转录间隔序列为靶位点;为提高定点整合效率,引入NEO、TK正负筛选系统进行双重选择;加入EGFP报告基因和Cre/Loxp系统,便于筛选阳性同源重组细胞克隆及后期删除筛选基因。将所构建的携带FAT1-FAT2双基因的打靶载体,通过脂质体介导瞬时转染猪肾细胞PK15。【结果】RT-PCR结果显示,FAT1-FAT2双基因在猪肾细胞PK15中实现表达;脂肪酸测定结果显示,ω-6 PUFAs、ω-3PUFAs在对照组PN1(转染对照质粒PN1)、转染试验组PF1(转染携带FAT1基因)、转染试验组PF1F2(转染携带FAT1-FAT2双基因)中的含量分别为7.9%、7.03%、3.92%和5.64%、7.01%、9.43%,差异均显著;ω-6/ω-3比例由对照组的1.4显著下降到试验组的0.42~1。【结论】构建携带FAT1-FAT2双基因的打靶载体转染猪肾细胞PK15可以表达产生FAT1-FAT2 mRNA,且可以显著提高转染细胞中ω-3 PUFAs的含量,为下一步生产转FAT1-FAT2双基因猪奠定基础。 展开更多
关键词 不饱和脂肪酸 FAT1-fat2基因 打靶载体 脂肪酸
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脊髓小脑性共济失调45型1例
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作者 章腾 赵莉 +1 位作者 许笑天 吴璇 《临床神经病学杂志》 2025年第2期121-123,共3页
脊髓小脑性共济失调(SCA)是一种高度遗传异质性常染色体显性遗传性疾病,其各亚型依据与致病相关的基因来分类~([1-2])。SCA45是SCA的罕见亚型,由FAT2基因致病性突变引起,主要表现为晚发性的肢体和步态共济失调、眼球震颤和构音障碍,部... 脊髓小脑性共济失调(SCA)是一种高度遗传异质性常染色体显性遗传性疾病,其各亚型依据与致病相关的基因来分类~([1-2])。SCA45是SCA的罕见亚型,由FAT2基因致病性突变引起,主要表现为晚发性的肢体和步态共济失调、眼球震颤和构音障碍,部分患者小脑萎缩~([3])。现回顾性分析1例FAT2基因突变相关SCA45患者的临床资料并结合文献进行分析。 展开更多
关键词 SCA45 fat2基因 遗传异质性 脊髓小脑性共济失调
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Effects of octreotide on glucose transporter type 2expression in obese rat small intestine 被引量:4
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作者 Na Wei Rui Liu +4 位作者 Yan Ou Xian Li Ou Qiang Wei Guo Cheng-Wei Tang 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第39期4434-4439,共6页
AIM: TO investigate the effects of the somatostatin analogue, octreotide, on maltose and sucrase activities and expression of glucose transporter type 2 (GLUT2) in obese rat intestinal mucosa. METHODS: We divided ... AIM: TO investigate the effects of the somatostatin analogue, octreotide, on maltose and sucrase activities and expression of glucose transporter type 2 (GLUT2) in obese rat intestinal mucosa. METHODS: We divided 49 Sprague-Dawley rats into a group of 31 high fat diet-induced obese rats and a group of 18 normal controls. The obese rats were separated into an octreotide treated group 9f 16 rats and an obese group of 15. The intervention (:jroup was injected with octreotide at 40 ±g/kg body weight every 12 h for 8 d. Rat body weight was measured weekly to calculate Lee's index. After euthanization, maltase and sucrase activities in the small intestine were measured by activity assays, and the fasting plasma glucose level was measured. The expression of GLUT2 in small intestinal mucosa was analyzed by immunohistochemistry, reverse transcriptase polymerase chain reaction and Western blotting assays. RESULTS: Body weight, Lee's index, fasting plasma glucose level, maltase activity in small intestinal mucosa, mucosa and apical GLUT2, GLUT2 mRNA and protein expression levels were all significantly higher in the obese group than in the normal control group (605.61 ± 141.00 vs 378.54 ±111.75, 337.61 ± 10.82 vs 318.73 ± 20.10, 8.60± 1.38 vs 7.33 ± 0.70, 156.01 ± 58.81 vs 50.43 ± 30.49, 390 744.2± 62 469.21 vs 170 546.50 ± 50 646.14, 26 740.18 ±3809.60 vs 354.98± 57.19, 0.26± 0.11 vs 0.07± 0.02, and 2.08 ± 0.59 vs 1.27 ± 0.38, respectively, all P 〈 0.01). Sucrase activity did not differ between the two groups. Octreotide intervention significantly decreased the body weight and fasting plasma glucose level of obese rats (508.27 ± 94.39 vs 605.61 ± 141.00, 7.58 ± 1.51 vs 8.60±1.38, respectively, all P 〈 0.05). The intestinal mucosa and apical GLUT2, expression of GLUT2 mRNA and protein were also significantly lower in the octreotide intervention group than in the obese group (269 975.2 ± 53 730.94 vs 390 744.2 ± 62 469.21, 3758.06 ± 364.51 vs 26 740.18 ± 3809.60, 0.08 ± 0.02 vs 0.26 ±0.11, and 1.31 ± 0.27 vs 2.08 ±0.59, respectively, all P 〈 0.01). CONCLUSION: High fat dietinduced obesity is associated with elevated intestinal maltase activity, GLUT2 expression, and permanent apical GLUT2 in the small intestinal mucosa of rats. Octreotide can inhibit these effects. 展开更多
关键词 Glucose transporter type 2 High fat diet MALTASE OBESITY OCTREOTIDE RAT Small intestinal absorption
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Simultaneous quantification of hepatic MRI-PDFF and R2* in a rabbit model with nonalcoholic fatty liver disease 被引量:2
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作者 Xiaomin Wang Xiaojing Zhang +1 位作者 Lin Ma Shengli Li 《Science China(Life Sciences)》 SCIE CAS CSCD 2018年第9期1107-1114,共8页
Quantification of hepatic fat and iron content is important for early detection and monitoring of nonalcoholic fatty liver disease(NAFLD) patients. This study evaluated quantification efficiency of hepatic proton dens... Quantification of hepatic fat and iron content is important for early detection and monitoring of nonalcoholic fatty liver disease(NAFLD) patients. This study evaluated quantification efficiency of hepatic proton density fat fraction(PDFF) by MRI using NAFLD rabbits. R2* was also measured to investigate whether it correlates with fat levels in NAFLD. NAFLD rabbit model was successfully established by high fat and cholesterol diet. Rabbits underwent MRI examination for fat and iron analyses,compared with liver histological findings. MR examinations were performed on a 3.0 T MR system using multi-echo 3 D gradient recalled echo(GRE) sequence. MRI-PDFF showed significant differences between different steatosis grades with medians of3.72%(normal), 5.43%(mild), 9.11%(moderate) and 11.17%(severe), whereas this was not observed in R2*. Close correlation between MRI-PDFF and histological steatosis was observed(r=0.78, P=0.000). Hepatic iron deposit was not found in any rabbits. There was no correlation between R2* and either liver MRI-PDFF or histological steatosis. MR measuring MRI-PDFF and R2* simultaneously provides promising quantification of steatosis and iron. Rabbit NAFLD model confirmed accuracy of MRI-PDFF for liver fat quantification. R2* measurement and relationship between fat and iron of NAFLD liver need further experimental investigation. 展开更多
关键词 nonalcoholic fatty liver disease quantification magnetic resonance imaging proton density fat fraction R2*
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