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

7 Aug 2025

Abstract excerpt

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 transcription 1) protein (D65A) to be associated with this disease. In the present paper, we investigated in more detail the...

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PMID: 40775363
DOI: 10.1186/s12964-025-02330-9

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Characterization of a pathogenic gain-of-function mutation in the N-terminal domain of STAT1 which is reported to be associated with eosinophilic esophagitisPMID 40775363Read ↗

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