基于填精补肾理论在新型X-连锁低磷性佝偻病(XLH)实验模型中探讨疾病干预与作用机制
81874379
2018
H3302.中西医结合临床基础
骆杰伟
面上项目
主任医师
福建省立医院
57万元
磷调节因子;基因突变;蛋白组学;左归丸;X连锁低磷性佝偻病
2019-01-01到2022-12-31
- 中英文摘要
- 结题摘要
- 结题报告
- 项目成果
- 项目参与人
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| 序号 | 标题 | 类型 | 作者 |
|---|---|---|---|
| 1 | A thrombophilia family with protein S deficiency due to protein translation disorders caused by a Leu607Ser heterozygous mutation in PROS1 | 期刊论文 | Zhang Yan-Ping;Lin Bin;Ji Yuan-Yuan;Hu Ya-Nan;Lin Xin-Fu;Tang Yi;Zhang Jian-Hui;Wu Shao-Jie;Cai Sen-Lin;Zhou Yan-Feng;Chen Ting;Fang Zhu-Ting;Luo Jie-Wei |
| 2 | Genetic Analysis and Functional Study of a Pedigree With Bruck Syndrome Caused by PLOD2 Variant | 期刊论文 | Ruo-Li Wang;Dan-Dan Ruan;Ya-Nan Hu;Yu-mian Gan;Xin-Fu Lin;Zhu-Ting Fang;Li-Shen Liao;Fa-Qiang Tang;Wu-Bing He;Jie-Wei Luo |
| 3 | Function of PHEX mutations p.Glu145 and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription | 期刊论文 | Yumian Gan;Yan-Ping Zhang;Dan-Dan Ruan;Jian-Bin Huang;Yao-Bin Zhu;Xin-Fu Lin;Xiao-Ping Xiao;Qiong Cheng;Zhen-Bo Geng;Li-Sheng Liao;Fa-Qiang Tang;Jie-Wei Luo |
| 4 | Screening and function discussion of a hereditary renal tubular acidosis family pathogenic gene | 期刊论文 | Chen Li;Wang Han-Lu;Zhu Yao-Bin;Jin Zhao;Huang Jian-Bin;Lin Xin-Fu;Luo Jie-Wei;Fang Zhu-Ting |
| 5 | Review and Analysis of Two Gitelman Syndrome Pedigrees Complicated with Proteinuria or Hashimoto's Thyroiditis Caused by Compound Heterozygous SLC12A3 Mutations | 期刊论文 | Jian-Hui Zhang;Dan-Dan Ruan;Ya-Nan Hu;Xing-Lin Ruan;Yao-Bin Zhu;Xiao Yang;Jia-Bin Wu;Xin-Fu Lin;Jie-Wei Luo;Fa-Qiang Tang |
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