Gastric cancer is one of the most common malignant gastrointestinal tumors whose morbidity and mortality account for the second and third place respectively in malignant tumors in China.As an important participant in ...Gastric cancer is one of the most common malignant gastrointestinal tumors whose morbidity and mortality account for the second and third place respectively in malignant tumors in China.As an important participant in tumor biology,the abnormal expression of long non-coding RNA(lncRNAs)in cancer cells is closely related to the occurrence and development of tumors and plays the role of oncogenes or tumor suppressor genes.In this study,we identified a novel lncRNA NFIA antisense RNA 1(NFIA-AS1)and explored its role and clinical significance in gastric cancer.Real-time quantitative PCR was performed to detect the expression of NFIA-AS1 in tumor tissues and corresponding normal tissues from 42 pairs of gastric cancer samples.The lower expression of NFIA-AS1 was significantly associated with larger tumor size,lower histological grade,and advanced TNM stage.Kaplan-meier analysis showed that NFIA-AS1 expression could be used as an independent predictor of overall survival.We also demonstrated that overexpression of NFIA-AS1 significantly inhibited the proliferation of gastric cancer cells through affecting p16 levels.In conclusion,our results suggest that the lncRNA NFIA-AS1 may play the role of tumor suppressor gene,and serve as a biomarker for prognosis or progression of gastric cancer.展开更多
目的探讨1例NFIA基因突变致脑畸形伴或不伴尿道缺陷疾病(brain malformations with or without urinary tract defects,BRMUTD,PMID:25714559)患者的临床特点和基因突变特征。方法收集湖南省儿童医院神经外科收治的1例NFIA基因突变致BRM...目的探讨1例NFIA基因突变致脑畸形伴或不伴尿道缺陷疾病(brain malformations with or without urinary tract defects,BRMUTD,PMID:25714559)患者的临床特点和基因突变特征。方法收集湖南省儿童医院神经外科收治的1例NFIA基因突变致BRMUTD患者的临床资料,应用二代测序和Sanger测序技术对其进行基因突变分析,并通过文献检索,对有关NFIA基因突变及染色体1p32-p31缺失、临床表现为脑畸形伴或不伴尿道缺陷疾病相关文献共27例病例进行复习。结果患者为女性,表现有胼胝体偏小、脑室扩大、智力发育落后、颅缝早闭、小脑扁桃体下疝(又称Chiari畸形)、肝功能异常等多系统问题;基因检测结果显示患者携带NFIA基因c.1051C>T(p.Arg351*)的杂合突变,该突变是新发突变,且在gnomAD数据库与ExAC数据库中未见报道;生物学信息分析软件分析预测提示为致病突变。通过检索文献数据库,联合本中心1例患者,共纳入27例脑畸形伴或不伴尿道缺陷疾病患者的临床特点与基因突变特征,其中男女比例为15∶12,其中胼胝体异常(24/27)、脑室扩大(23/27)、巨头畸形(22/27)、狭颅症(5/27)、发育迟滞(25/27)、Chiari畸形(7/27)、泌尿系统疾病(10/27)较为常见。结论NFIA基因突变新的致病位点c.1051C>T(p.Arg351*),丰富了NFIA的突变谱,通过分析脑畸形伴或不伴尿道缺陷疾病患者临床表现分析,加深了对脑畸形伴或不伴尿道缺陷疾病的认识。展开更多
基金supported by grants from the Postgraduate Research & Practice Innovation Program of Jiangsu Province (KYCX17_1301 to E.Z.)the National Natural Science Foundation of China (81730066 to D.M.).
文摘Gastric cancer is one of the most common malignant gastrointestinal tumors whose morbidity and mortality account for the second and third place respectively in malignant tumors in China.As an important participant in tumor biology,the abnormal expression of long non-coding RNA(lncRNAs)in cancer cells is closely related to the occurrence and development of tumors and plays the role of oncogenes or tumor suppressor genes.In this study,we identified a novel lncRNA NFIA antisense RNA 1(NFIA-AS1)and explored its role and clinical significance in gastric cancer.Real-time quantitative PCR was performed to detect the expression of NFIA-AS1 in tumor tissues and corresponding normal tissues from 42 pairs of gastric cancer samples.The lower expression of NFIA-AS1 was significantly associated with larger tumor size,lower histological grade,and advanced TNM stage.Kaplan-meier analysis showed that NFIA-AS1 expression could be used as an independent predictor of overall survival.We also demonstrated that overexpression of NFIA-AS1 significantly inhibited the proliferation of gastric cancer cells through affecting p16 levels.In conclusion,our results suggest that the lncRNA NFIA-AS1 may play the role of tumor suppressor gene,and serve as a biomarker for prognosis or progression of gastric cancer.
文摘目的探讨1例NFIA基因突变致脑畸形伴或不伴尿道缺陷疾病(brain malformations with or without urinary tract defects,BRMUTD,PMID:25714559)患者的临床特点和基因突变特征。方法收集湖南省儿童医院神经外科收治的1例NFIA基因突变致BRMUTD患者的临床资料,应用二代测序和Sanger测序技术对其进行基因突变分析,并通过文献检索,对有关NFIA基因突变及染色体1p32-p31缺失、临床表现为脑畸形伴或不伴尿道缺陷疾病相关文献共27例病例进行复习。结果患者为女性,表现有胼胝体偏小、脑室扩大、智力发育落后、颅缝早闭、小脑扁桃体下疝(又称Chiari畸形)、肝功能异常等多系统问题;基因检测结果显示患者携带NFIA基因c.1051C>T(p.Arg351*)的杂合突变,该突变是新发突变,且在gnomAD数据库与ExAC数据库中未见报道;生物学信息分析软件分析预测提示为致病突变。通过检索文献数据库,联合本中心1例患者,共纳入27例脑畸形伴或不伴尿道缺陷疾病患者的临床特点与基因突变特征,其中男女比例为15∶12,其中胼胝体异常(24/27)、脑室扩大(23/27)、巨头畸形(22/27)、狭颅症(5/27)、发育迟滞(25/27)、Chiari畸形(7/27)、泌尿系统疾病(10/27)较为常见。结论NFIA基因突变新的致病位点c.1051C>T(p.Arg351*),丰富了NFIA的突变谱,通过分析脑畸形伴或不伴尿道缺陷疾病患者临床表现分析,加深了对脑畸形伴或不伴尿道缺陷疾病的认识。
