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

A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation

DCDC2 的错义突变导致人类隐性耳聋 DFNB66,可能是通过干扰感觉毛细胞和支持细胞纤毛长度调节来实现的

M'hamed Grati, Imen Chakchouk, Qi Ma, Mariem Bensaid, Alexandra Desmidt, Nouha Turki, Denise Yan, Aissette Baanannou, Rahul Mittal, Nabil Driss, Susan Blanton, Amjad Farooq, Zhongmin Lu, Xue Zhong Liu, Saber Masmoudi

FAM65B is a membrane-associated protein of hair cell stereocilia required for hearing

FAM65B 是听觉所必需的毛细胞纤毛膜相关蛋白

Oscar Diaz-Horta, Asli Subasioglu-Uzak, M'hamed Grati, Alexandra DeSmidt, Joseph Foster 2nd, Lei Cao, Guney Bademci, Suna Tokgoz-Yilmaz, Duygu Duman, F Basak Cengiz, Clemer Abad, Rahul Mittal, Susan Blanton, Xue Z Liu, Amjad Farooq, Katherina Walz, Zhongmin Lu, Mustafa Tekin