Characterization of a pathogenic gain-of-function mutation in the N-terminal domain of STAT1 which is reported to be associated with eosinophilic esophagitis

Characterization of a pathogenic gain-of-function mutation in the N-terminal domain of STAT1 which is reported to be associated with eosinophilic esophagitis

Abstract The pathophysiology of eosinophilic esophagitis (EoE), a chronic allergic disease characterized by eosinophilic infiltration of the esophageal mucosa, is largely unknown. Recently, a case report described a gain-of-function (GOF) mutation in the STAT1 (signal transducer and activator of tra...

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Bibliographic Details
Main Authors: Kristin Annawald, Anke Gregus, Oliver Wirths, Thomas Meyer
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Cell Communication and Signaling
Subjects:
STAT1
N-terminal domain
Gain-of-function
Eosinophilic esophagitis
Tyrosine phosphorylation
Online Access:https://doi.org/10.1186/s12964-025-02330-9
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https://doi.org/10.1186/s12964-025-02330-9

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