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Of Mosaicism and Mechanisms: How JAK1 Goes Awry.
Immunity ( IF 32.4 ) Pub Date : 2020-09-15 , DOI: 10.1016/j.immuni.2020.08.010
Sarah H Ross 1 , Doreen A Cantrell 2
Affiliation  

Personalized medicines require understanding the molecular causes of disease. In this issue of Immunity, Gruber et al. reveal that a gain-of-function JAK1 genetic variant results in a mutant protein with mosaic expression that drives multi-organ immune dysregulation via kinase dependent and independent mechanisms. The work highlights how biochemistry can inform therapies to resolve complex immune disorders.



中文翻译:

马赛克和机制:JAK1如何出错。

个性化药物需要了解疾病的分子原因。在《免疫》一期中,Gruber等人 揭示功能获得性JAK1遗传变异产生带有镶嵌表达的突变蛋白,该蛋白通过激酶依赖性机制和独立机制驱动多器官免疫调节异常。这项工作强调了生物化学如何能够为治疗复杂的免疫疾病的治疗提供信息。

更新日期:2020-09-15
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