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

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

ARHGDIA 突变通过缺陷的 RHO GTPase 信号传导导致肾病综合征

Heon Yung Gee, Pawaree Saisawat, Shazia Ashraf, Toby W Hurd, Virginia Vega-Warner, Humphrey Fang, Bodo B Beck, Olivier Gribouval, Weibin Zhou, Katrina A Diaz, Sivakumar Natarajan, Roger C Wiggins, Svjetlana Lovric, Gil Chernin, Dominik S Schoeb, Bugsu Ovunc, Yaacov Frishberg, Neveen A Soliman, Hanan

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

人类患者的 COQ6 突变会导致肾病综合征和神经性耳聋

Saskia F Heeringa, Gil Chernin, Moumita Chaki, Weibin Zhou, Alexis J Sloan, Ziming Ji, Letian X Xie, Leonardo Salviati, Toby W Hurd, Virginia Vega-Warner, Paul D Killen, Yehoash Raphael, Shazia Ashraf, Bugsu Ovunc, Dominik S Schoeb, Heather M McLaughlin, Rannar Airik, Christopher N Vlangos, Rasheed