作者
Jianwei Ye, Zihua Yu, Jie Ding, Yan Chen, Jianping Huang, Yong Yao, Huijie Xiao, Jiyun Yang, Ying Shen, Qun Meng
发表日期
2006/9/22
期刊
Biochemical and biophysical research communications
卷号
348
期号
2
页码范围
507-513
出版商
Academic Press
简介
Previous studies have demonstrated that the genetic variations of glucocorticoid receptor gene (NR3C1) are associated with both familial steroid resistance and acquired steroid resistance in some diseases, such as Cushing’s disease, leukemia, lupus nephritis, and female pseudohermaphroditism. In this study, we examined the genetic variations of NR3C1 in 35 children with sporadic steroid-resistant nephrotic syndrome (SRNS), and in 83 cases with sporadic steroid-sensitive NS (SSNS) using polymerase chain reaction, denaturing high-performance liquid chromatography and DNA sequencing, and analyzed possible associations between NR3C1 variants and steroid resistance in sporadic NS. No causative mutations were found; however, six previously identified and six novel polymorphisms, 1206C>T, 1374A>G, 2382C>T, 2193T>G, IVS7-68_-63delAAAAAA, and IVS8-9C>G, were detected. Two novel …
引用总数
20072008200920102011201220132014201520162017201820192020202111421211115
学术搜索中的文章
J Ye, Z Yu, J Ding, Y Chen, J Huang, Y Yao, H Xiao… - Biochemical and biophysical research communications, 2006