目的:为探索COMMD10基因在三阴性乳腺癌(TNBC)治疗与预后中的作用,我们构建了一个基于COMMD10相关基因的预后模型。该模型旨在帮助评估患者的生存情况并制定治疗方案。方法:研究数据来自GEO和TCGA数据库,纳入TNBC患者的基因表达数据及...目的:为探索COMMD10基因在三阴性乳腺癌(TNBC)治疗与预后中的作用,我们构建了一个基于COMMD10相关基因的预后模型。该模型旨在帮助评估患者的生存情况并制定治疗方案。方法:研究数据来自GEO和TCGA数据库,纳入TNBC患者的基因表达数据及临床信息。我们首先通过Spearman相关性分析筛选出78个与COMMD10表达相关的基因,通过LASSO多因素COX回归分析识别独立预后基因并构建风险评分。结果:筛选了5个关键基因用于构建风险评分模型,根据这些基因构建的风险评分模型,能将患者分为高风险组和低风险组。通过生存曲线和ROC曲线验证发现,该模型在训练集和验证集中均表现良好。进一步分析显示,高低风险组患者的免疫细胞浸润程度、免疫检查点分子表达以及化疗药物敏感性存在显著差异。结论:这些发现表明,COMMD10相关模型不仅能预测TNBC患者的预后,还能为个性化治疗提供依据。Objective: To explore the role of COMMD10 gene in the treatment and prognosis of triple-negative breast cancer (TNBC), we constructed a prognostic model based on COMMD10-related genes. The model was designed to help assess patient survival and develop a treatment plan. Methods: Data were obtained from the GEO and TCGA databases, which contain gene expression data and clinical information of TNBC patients. We first screened 78 genes associated with COMMD10 expression by Spearman correlation analysis, identified independent prognostic genes, and constructed risk scores by LASSO multifactorial COX regression analysis. Results: Five key genes were selected for risk score model construction, and the risk score models constructed based on these genes were able to classify patients into high-risk and low-risk groups. The model was validated using survival curves and ROC curves and was found to perform well in both the training and validation sets. Further analysis revealed significant differences in the degree of immune cell infiltration, expression of immune checkpoint molecules, and chemotherapeutic drug sensitivity between patients in the high-risk and low-risk groups. Conclusion: These results suggest that the COMMD10-related model can not only predict the prognosis of TNBC patients, but also provide a basis for personalized treatment.展开更多
目的探讨抑制COMMD7基因后对肝癌干细胞(liver cancer stem cells,LCSCs)侵袭转移能力的影响及其机制。方法使用shRNA慢病毒转染抑制COMMD7在LCSCs中的表达,粘附、Transwell实验检测细胞侵袭迁移能力,鬼笔环肽染色检测细胞形态学特征,We...目的探讨抑制COMMD7基因后对肝癌干细胞(liver cancer stem cells,LCSCs)侵袭转移能力的影响及其机制。方法使用shRNA慢病毒转染抑制COMMD7在LCSCs中的表达,粘附、Transwell实验检测细胞侵袭迁移能力,鬼笔环肽染色检测细胞形态学特征,Western blot检测细胞中E-cadherin、N-cadherin、Vimentin蛋白表达。结果抑制COMMD7基因表达可以显著降低LCSCs的侵袭迁移能力,对照组与转染组粘附相对细胞量为(1.00±0.12),(2.35±0.20),转染组粘附细胞数量显著增加(P<0.05)。对照组与转染组每视野迁移相对细胞量为(1.00±0.04),(0.24±0.03),每视野侵袭相对细胞量为(1.00±0.05),(0.24±0.04),转染组迁移侵袭细胞数明显降低(P<0.05),同时导致细胞表现出低侵袭迁移能力的形态学变化,上述改变伴随了间充质-上皮转化(mesenchymal-epithelial transition,MET)相关分子E-cadherin表达上升(P<0.05),N-cadherin、Vimentin表达下调(P<0.05)。结论 COMMD7可能通过调控MET过程抑制LCSCs的侵袭转移能力。展开更多
AIM： To analyze our Wilson disease patient cohort （n = 106） for alterations in the gene coding for MURR1. METHODS： Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels wer...AIM： To analyze our Wilson disease patient cohort （n = 106） for alterations in the gene coding for MURR1. METHODS： Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels were chosen for our study （n = 14）. Patients with two known disease-causing mutations in the ATPTB gene were not included. The three exons of the human MURR1 gene were sequenced after amplification of the genomic DNA by polymerase chain reaction. RESULTS： Our study did not reveal any mutations leading to an amino acid change in the MURR1 sequence of Wilson disease patients. A polymorphism at 472 bp of the coding sequence could be confirmed. CONCLUSION： The MURRI gene plays no role in the pathogenesis of Wilson disease patients with normal serum ceruloplasmin levels.展开更多
Wilson disease is an autosomal recessive disorder of copper metabolism.Diagnosis depends primarily on clinical features,biochemical parameters and the presence of the Kayser-Fleischer ring.Genetic analysis for mutatio...Wilson disease is an autosomal recessive disorder of copper metabolism.Diagnosis depends primarily on clinical features,biochemical parameters and the presence of the Kayser-Fleischer ring.Genetic analysis for mutations within ATP7B is a convincing diagnostic tool.The traditional treatment for WD includes chelation of excessive copper accumulation and reduction of copper intake.Medical therapy is effective but WD is not yet curable.Liver transplantation is especially helpful for patients who fail to respond to medical therapy or present with fulminant liver failure,although evaluation of its long-term effect are still in need.展开更多
文摘目的:为探索COMMD10基因在三阴性乳腺癌(TNBC)治疗与预后中的作用,我们构建了一个基于COMMD10相关基因的预后模型。该模型旨在帮助评估患者的生存情况并制定治疗方案。方法:研究数据来自GEO和TCGA数据库,纳入TNBC患者的基因表达数据及临床信息。我们首先通过Spearman相关性分析筛选出78个与COMMD10表达相关的基因,通过LASSO多因素COX回归分析识别独立预后基因并构建风险评分。结果:筛选了5个关键基因用于构建风险评分模型,根据这些基因构建的风险评分模型,能将患者分为高风险组和低风险组。通过生存曲线和ROC曲线验证发现,该模型在训练集和验证集中均表现良好。进一步分析显示,高低风险组患者的免疫细胞浸润程度、免疫检查点分子表达以及化疗药物敏感性存在显著差异。结论:这些发现表明,COMMD10相关模型不仅能预测TNBC患者的预后,还能为个性化治疗提供依据。Objective: To explore the role of COMMD10 gene in the treatment and prognosis of triple-negative breast cancer (TNBC), we constructed a prognostic model based on COMMD10-related genes. The model was designed to help assess patient survival and develop a treatment plan. Methods: Data were obtained from the GEO and TCGA databases, which contain gene expression data and clinical information of TNBC patients. We first screened 78 genes associated with COMMD10 expression by Spearman correlation analysis, identified independent prognostic genes, and constructed risk scores by LASSO multifactorial COX regression analysis. Results: Five key genes were selected for risk score model construction, and the risk score models constructed based on these genes were able to classify patients into high-risk and low-risk groups. The model was validated using survival curves and ROC curves and was found to perform well in both the training and validation sets. Further analysis revealed significant differences in the degree of immune cell infiltration, expression of immune checkpoint molecules, and chemotherapeutic drug sensitivity between patients in the high-risk and low-risk groups. Conclusion: These results suggest that the COMMD10-related model can not only predict the prognosis of TNBC patients, but also provide a basis for personalized treatment.
文摘AIM： To analyze our Wilson disease patient cohort （n = 106） for alterations in the gene coding for MURR1. METHODS： Patients with an established diagnosis of Wilson disease but normal ceruloplasmin blood levels were chosen for our study （n = 14）. Patients with two known disease-causing mutations in the ATPTB gene were not included. The three exons of the human MURR1 gene were sequenced after amplification of the genomic DNA by polymerase chain reaction. RESULTS： Our study did not reveal any mutations leading to an amino acid change in the MURR1 sequence of Wilson disease patients. A polymorphism at 472 bp of the coding sequence could be confirmed. CONCLUSION： The MURRI gene plays no role in the pathogenesis of Wilson disease patients with normal serum ceruloplasmin levels.
文摘Wilson disease is an autosomal recessive disorder of copper metabolism.Diagnosis depends primarily on clinical features,biochemical parameters and the presence of the Kayser-Fleischer ring.Genetic analysis for mutations within ATP7B is a convincing diagnostic tool.The traditional treatment for WD includes chelation of excessive copper accumulation and reduction of copper intake.Medical therapy is effective but WD is not yet curable.Liver transplantation is especially helpful for patients who fail to respond to medical therapy or present with fulminant liver failure,although evaluation of its long-term effect are still in need.
