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

Chloride deregulation and GABA depolarization in MTOR-related malformations of cortical development.

皮质发育中与 MTOR 相关的畸形中的氯离子失调和 GABA 去极化

Bakouh Naziha, Castaño-Martín Reyes, Metais Alice, Dan Emanuela Loredana, Balducci Estelle, Chhuon Cerina, Lepicka Joanna, Barcia Giulia, Losito Emma, Lourdel Stéphane, Planelles Gabrielle, Muresan Raul C, Moca Vasile Vlad, Kaminska Anna, Bourgeois Marie, Chemaly Nicole, Rguez Yasmine, Auvin Stéphane, Huberfeld Gilles, Varlet Pascale, Asnafi Vahid, Guerrera Ida Chiara, Kabashi Edor, Nabbout Rima, Ciura Sorana, Blauwblomme Thomas

A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism

一种新的人类NHERF1突变通过一种不依赖于PTH的机制降低肾脏磷酸盐转运蛋白NPT2a的表达。

Courbebaisse, Marie; Leroy, Christine; Bakouh, Naziha; Salaün, Christine; Beck, Laurent; Grandchamp, Bernard; Planelles, Gabrielle; Hall, Randy A; Friedlander, Gérard; Prié, Dominique