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子宫肌瘤患者MED12高频突变对细胞增殖、侵袭、迁移和凋亡的影响 被引量:2
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作者 吴娟 张子宇 +2 位作者 邹阳 罗勇 黄欧平 《现代妇产科进展》 CSCD 北大核心 2018年第2期112-114,共3页
目的:研究MED12高频突变体对细胞增殖、侵袭、迁移、凋亡及周期的影响,探究MED12突变对于体外细胞功能的作用。方法:外源性转染MED12重组野生型和突变质粒至HEK293T细胞。Western blot法检测MED12蛋白表达,CCK-8法检测细胞增殖能力,Tran... 目的:研究MED12高频突变体对细胞增殖、侵袭、迁移、凋亡及周期的影响,探究MED12突变对于体外细胞功能的作用。方法:外源性转染MED12重组野生型和突变质粒至HEK293T细胞。Western blot法检测MED12蛋白表达,CCK-8法检测细胞增殖能力,Transwell检测细胞迁移和侵袭,流式细胞法检测细胞凋亡水平。结果:CCK-8法检测发现,与野生型MED12比较,突变型(G44D)能提高HEK293T细胞的增殖能力,差异有统计学意义(P<0.01),但迁移、侵袭能力、凋亡率比较差异无统计学意义(P>0.05)。结论:MED12突变体通过提高细胞增殖,进而促进子宫肌瘤的发病。 展开更多
关键词 子宫肌瘤 中介体复合物亚基12 基因突变 细胞增殖
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MED12L基因新生突变导致儿童癫痫1例
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作者 薛璐瑶 卢红茹 +1 位作者 李富威 孙素真 《中国优生与遗传杂志》 2024年第8期1662-1666,共5页
目的了解MED12L基因突变所致儿童癫痫的临床表型,完善儿童癫痫遗传性致病基因,并分析MED12L基因导致癫痫发作的机制。方法对2023年6月在河北省儿童医院确诊的1例MED12L基因突变所致癫痫的病例进行回顾性分析。结果患儿癫痫诊断明确,伴... 目的了解MED12L基因突变所致儿童癫痫的临床表型,完善儿童癫痫遗传性致病基因,并分析MED12L基因导致癫痫发作的机制。方法对2023年6月在河北省儿童医院确诊的1例MED12L基因突变所致癫痫的病例进行回顾性分析。结果患儿癫痫诊断明确,伴有轻度发育迟缓,MED12L基因变异为致病性,与患儿临床表型存在相关性。结论MED12L基因突变可导致患儿癫痫发作,并伴有一定程度的发育障碍。 展开更多
关键词 med12L基因 癫痫 中介复合体 发育障碍 基因表达
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基于Med12/Wnt/β-Catenin信号通路的气血双补方治疗子宫肌瘤的作用机制 被引量:3
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作者 王琴 陈林伟 +3 位作者 江勇 王华 田虎 陈琰 《中国医院药学杂志》 CAS 北大核心 2023年第13期1442-1446,共5页
目的:基于Med12/Wnt/β-Catenin信号通路探讨气血双补方治疗子宫肌瘤作用机制。方法:通过慢病毒转染构建Med12基因敲低的人子宫肌瘤细胞株;制备气血双补方含药血清,进一步展开Med12基因下游信号通路的Western blot及PCR检测。结果:与对... 目的:基于Med12/Wnt/β-Catenin信号通路探讨气血双补方治疗子宫肌瘤作用机制。方法:通过慢病毒转染构建Med12基因敲低的人子宫肌瘤细胞株;制备气血双补方含药血清,进一步展开Med12基因下游信号通路的Western blot及PCR检测。结果:与对照组比较,含药血清能够显著降低Control-shRNA组细胞中Wnt1、β-catenin、TCF1/TCP7、C-myc、Cyclin D1基因和蛋白的表达水平;与Control-shRNA组比较,Med12-shRNA组细胞中Wnt1、β-catenin、TCF1/TCP7、C-myc、Cyclin D1基因和蛋白的表达同样降低,但无显著影响。结论:气血双补方含药血清可以通过影响Med12/Wnt1/β-catenin信号通路发挥治疗子宫肌瘤作用。 展开更多
关键词 气血双补方 子宫肌瘤 作用机制 med12 WNT Β-CATENIN
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Molecular Docking Studies of Botanical Beverage Mix Berries (LIFEGREENTM) against Breast Cancer Cells from Targeted Protein 1QQG, 7B5Q & 7B5O & Uterine Fibroid from Targeted Protein 2AYR, 6T41 & 3GRF
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作者 Ummi Shahieda Lazaroo Bt Zurrein Shah Lazaroo Navanithan Sivanananthan Chua Kia How 《Computational Molecular Bioscience》 2024年第2期59-123,共65页
Fibroids, also called leiomyomas or myomas, are communal tumors of the muscle or uterine wall that affect about 20% of females who are of reproductive age. They can look as if singly or in clusters, and they often cea... Fibroids, also called leiomyomas or myomas, are communal tumors of the muscle or uterine wall that affect about 20% of females who are of reproductive age. They can look as if singly or in clusters, and they often cease to grow after menopause. Fibroids can be classified as intramural, sub serosal, pedunculated, or submucosal based on where they are positioned in the uterus. Although fibroids are benign, they can grow quickly and cause a range of symptoms, such as pelvic pressure, heavy menstrual flow, and infertility. As a result, fibroids are a main reason behind hysterectomy surgeries. The majority of cases of breast cancer are ductal and lobular cancers, making it the second utmost common cancer in women international. Gene mutations like those in BRCA1 or BRCA2 knowingly raise the risk of breast and other cancers, typically with an earlier cancer onset. Cancer risk is influenced by a complex interplay of genetic abnormalities, environmental factors, and lifestyle selections. Further research into these relations is domineering. Although they are common in uterine leiomyomas, especially multiple leiomyomas, MED12 mutations do not significantly correlate with tumor size. These mutations have also been noticed in smooth muscle tumors and leiomyosarcomas, two other types of uterine cancer. The identification of MED12 mutations as the sole genetic abnormality originates in leiomyomas raises the opportunity of a role in the genesis of cancer. 10% - 15% of women who are of reproductive age have endometriosis, which grants serious difficulties because of its chronic nature and range of clinical symptoms. Even after effective surgeries, issues reoccur often, adding to the enormous financial burden. The effects of MED12 mutations have been experiential in recent studies examining the molecular causes of endometriosis-associated infertility, which have shown anomalies in cellular connections and signaling cascades. Computational techniques were used in this study to investigate LifeGreenTM’s potential to prevent uterine fibroids and breast cancer. The efficacy of LifeGreenTM as a preventive measure or a treatment for common gynecological matters was examined and modeled. We investigated the mechanisms underlying LifeGreenTM’s benefits in the treatment of uterine fibroids and breast cancer using computational techniques. Our research contributes to our understanding of its potential therapeutic benefits for women’s health. 展开更多
关键词 Uterine Fibroid Breast Cancer Molecular Docking IRS Protein BRCA1 BRCA2 med12-a ENDOMETRIOSIS
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良性转移性平滑肌瘤的病理学特征及基因表型分析 被引量:2
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作者 胡沙沙 王丽丽 +4 位作者 赵涵 李广起 计晓彬 信芳杰 王继纲 《中华病理学杂志》 CAS CSCD 北大核心 2020年第7期704-709,共6页
目的:探讨良性转移性平滑肌瘤(benign metastasizing leiomyoma,BML)的临床病理学特点、免疫表型及MED12基因突变情况。方法:收集青岛大学附属医院2012—2018年的9例BML患者资料,分析影像学资料及组织学形态,采用免疫组织化学EliVision... 目的:探讨良性转移性平滑肌瘤(benign metastasizing leiomyoma,BML)的临床病理学特点、免疫表型及MED12基因突变情况。方法:收集青岛大学附属医院2012—2018年的9例BML患者资料,分析影像学资料及组织学形态,采用免疫组织化学EliVision法检测RB1、PTEN、ATRX、p16、p53等常见肿瘤驱动基因蛋白表达以及雌激素受体(ER)、孕激素受体(PR)、CD34、延胡索酸水化酶(FH)、Ki-67等指标的表达情况,采用Sanger测序检测MED12基因第2外显子突变情况。结果:9例BML患者均为女性,年龄48~64岁,中位年龄55岁。所有患者均有子宫平滑肌瘤病史。镜下肿瘤细胞形态类似子宫良性平滑肌瘤,不具有恶性组织学特征。肿瘤细胞均表达ER和PR而不表达CD34,RB1、PTEN、ATRX、FH均为阳性(野生型),p16局灶阳性,p53阳性率均<5%(野生型),Ki-67阳性指数均<1%;6例BML标本行Sanger测序,1例存在无义突变c.142_144delinsTAA(p.Glu48Ter),1例同时存在同义突变c.192C>T(p.Phe64=)和错义突变c.196C>T(p.Pro66Ser)。结论:BML病理组织学及基因表型不同于平滑肌肉瘤以及普通子宫平滑肌瘤,进一步明确BML的基因表型,特别是肿瘤驱动基因蛋白表达及MED12基因突变情况,有助于明确BML的病理机制,辅助其与平滑肌肉瘤的鉴别诊断。 展开更多
关键词 平滑肌瘤 免疫组织化学 表型 med12
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