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

A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs

NOP58基因的纯合同义变异会损害前体核糖体RNA的成熟,从而导致神经发育障碍。

Bonde, Loisa D; Holling, Tess; Alawi, Malik; El Beheiry, Ahmed A; Mir Hassani, Zabih; Bachand, François; Abdelrazek, Ibrahim M; Kutsche, Kerstin

Biallelic variants in the conserved ribosomal protein chaperone gene PDCD2 are associated with hydrops fetalis and early pregnancy loss.

保守的核糖体蛋白伴侣基因 PDCD2 的双等位基因变异与胎儿水肿和早期妊娠丢失有关

Landry-Voyer Anne-Marie, Holling Tess, Mis Emily K, Mir Hassani Zabih, Alawi Malik, Ji Weizhen, Jeffries Lauren, Kutsche Kerstin, Bachand François, Lakhani Saquib A

Ribosomal Protein uS5 and Friends: Protein-Protein Interactions Involved in Ribosome Assembly and Beyond

核糖体蛋白 uS5 及其伙伴:参与核糖体组装及其他功能的蛋白质-蛋白质相互作用

Landry-Voyer, Anne-Marie; Mir Hassani, Zabih; Avino, Mariano; Bachand, François