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STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation
Signal transducer and activator of transcription (STAT1)1 gain of function (GOF) pathogenic variants have been associated with increased levels of phosphorylated STAT1 and STAT1-dependent cellular responses. Delayed dephosphorylation was proposed as the underlying mechanism leading to the characteri...
Autores principales: | Zimmerman, Ofer, Olbrich, Peter, Freeman, Alexandra F., Rosen, Lindsey B., Uzel, Gulbu, Zerbe, Christa S., Rosenzweig, Sergio D., Kuehn, Hye Sun, Holmes, Kevin L., Stephany, David, Ding, Li, Sampaio, Elizabeth P., Hsu, Amy P., Holland, Steven M. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6635460/ https://www.ncbi.nlm.nih.gov/pubmed/31354696 http://dx.doi.org/10.3389/fimmu.2019.01433 |
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