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Article

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses

14 May 2021

Abstract excerpt

Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) is an autosomal dominant immune disorder marked by wide infectious predisposition, autoimmunity, vascular disease, and malignancy. Its molecular hallmark, elevated phospho-STAT1 (pSTAT1) following interferon (IFN) stimulation, is seen consistently in all patients and may not fully account for the broad phenotypic spectrum associated...

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PMID: 33990617
DOI: 10.1038/s41525-021-00196-7

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