Of Mosaicism and Mechanisms: How JAK1 Goes Awry

Sarah Ross; Doreen Cantrell

doi:10.1016/j.immuni.2020.08.010

Of Mosaicism and Mechanisms: How JAK1 Goes Awry

Sarah Ross
, Doreen Cantrell (Lead / Corresponding author)

Cell Signalling and Immunology

Research output: Contribution to journal › Article › peer-review

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Abstract

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.

Original language	English
Pages (from-to)	481-484
Number of pages	4
Journal	Immunity
Volume	53
Issue number	3
Early online date	15 Sept 2020
DOIs	https://doi.org/10.1016/j.immuni.2020.08.010
Publication status	Published - Nov 2020

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

ASJC Scopus subject areas

Immunology and Allergy
Immunology
Infectious Diseases

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Cite this

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abstract = "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.",

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AB - 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.

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Of Mosaicism and Mechanisms: How JAK1 Goes Awry

Abstract

UN SDGs

ASJC Scopus subject areas

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