DNA损伤
DNA修复
低丙种球蛋白血症
生物
基因
DNA
组蛋白
免疫系统
功能(生物学)
细胞生物学
癌症研究
遗传学
抗体
作者
Brendan Mathias,David R O’Leary,Nermina Saucier,Faiz Ahmad,Lynn S. White,Le’Mark Russell,Marwan Shinawi,Matthew J. Smith,Roshini S. Abraham,Megan A. Cooper,Maleewan Kitcharoensakkul,Abby M. Green,Jeffrey J. Bednarski
标识
DOI:10.1016/j.jaci.2023.12.001
摘要
Patients with deleterious variants in MYSM1 have an immune deficiency characterized by B-cell lymphopenia, hypogammaglobulinemia, and increased radiosensitivity. MYSM1 is a histone deubiquitinase with established activity in regulating gene expression. MYSM1 also localizes to sites of DNA injury but its function in cellular responses to DNA breaks has not been elucidated.
科研通智能强力驱动
Strongly Powered by AbleSci AI