日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia

家族性高胆固醇血症一家系低密度脂蛋白受体基因突变分析

Ya-Nan Hu, Min Wu, Hong-Ping Yu, Qiu-Yan Wu, Ying Chen, Jian-Hui Zhang, Dan-Dan Ruan, Yan-Ping Zhang, Jing Zou, Li Zhang, Xin-Fu Lin, Zhu-Ting Fang, Li-Sheng Liao, Fan Lin, Hong Li, Jie-Wei Luo

Identification and characterization of two SERPINC1 mutations causing congenital antithrombin deficiency

导致先天性抗凝血酶缺乏症的两种 SERPINC1 突变的鉴定和表征

Han-Lu Wang #, Dan-Dan Ruan #, Min Wu #, Yuan-Yuan Ji #, Xing-Xing Hu, Qiu-Yan Wu, Yan-Ping Zhang, Bin Lin, Ya-Nan Hu, Hang Wang, Yi Tang, Zhu-Ting Fang, Jie-Wei Luo, Li-Sheng Liao, Mei-Zhu Gao

Potential regulatory role of the Nrf2/HMGB1/TLR4/NF-κB signaling pathway in lupus nephritis

Nrf2/HMGB1/TLR4/NF-κB信号通路在狼疮性肾炎中的潜在调控作用

Shi-Jie Li #, Dan-Dan Ruan #, Wei-Zhen Wu #, Min Wu #, Qiu-Yan Wu, Han-Lu Wang, Yuan-Yuan Ji, Yan-Ping Zhang, Xin-Fu Lin, Zhu-Ting Fang, Li-Sheng Liao, Jie-Wei Luo, Mei-Zhu Gao, Jia-Bin Wu0

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

PHEX 突变 p.Glu145* 和 p.Trp749Arg 在 X 连锁低磷血症性佝偻病家族中通过 FGF23 启动子转录负调控机制发挥作用

Yu-Mian 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

A novel compound heterozygous variant linked to hematuria in a family with hereditary factor VII deficiency

一种新的复合杂合变异与遗传性 VII 因子缺乏症家族中的血尿有关

Ya-Nan Hu, Yu-Mian Gan, Yan-Ping Zhang, Dan-Dan Ruan, Yao-Bin Zhu, Xin-Fu Lin, Zhu-Ting Fang, Li-Sheng Liao, Fa-Qiang Tang, Jie-Wei Luo