家族性高血钾高血压致病基因CUL3突变c.1221A>G的发病机制和剪接调控寡核苷酸的治疗干预研究
序号 | 标题 | 类型 | 作者 |
---|---|---|---|
1 | Twelve exonic variants in the SLC12A1 and CLCNKB genes alter RNA splicing in a minigene assay. | 期刊论文 | 辛卿;刘启华;刘志英;石晓梦;刘绪言;张瑞晓;洪业峰;邵乐平 |
2 | Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay. | 期刊论文 | 望赛;王一休;王金超;刘志英;张瑞晓;石晓梦;韩玥;郭文聪;Irene Bottillo;邵乐平 |
3 | Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay. | 期刊论文 | 张瑞晓;陈泽青;宋启京;望赛;刘志英;赵向忠;石晓梦;郭文聪;郎艳华;Irene Bottillo;邵乐平 |
4 | Double synonymous mutations in exon 9 of the Cullin3 gene restore exon inclusion by abolishing hnRNPs inhibition. | 期刊论文 | 刘志英;隋爱华;望赛;崔莉;辛卿;张瑞晓;韩玥;邵乐平;赵向忠 |
5 | Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2. | 期刊论文 | 左建新;郭文聪;王淑娟;郎艳华;望赛;石晓梦;张瑞晓;赵向忠;韩玥;邵乐平 |
6 | Novel gain-of-function mutation of TRPC6 Q134P contributes to late onset focal segmental glomerulosclerosis in a Chinese pedigree. | 期刊论文 | 刘志英;张海燕;赵世鹏;张倩;张瑞晓;韩玥;邵乐平;赵向忠 |