Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression

Signal transducer and activator of transcription 1 (STAT1) regulates multiple biological processes downstream of a variety of cytokine receptors in many cell types. Heterozygous gain-of-function (GOF) mutations in STAT1 have been associated with a diverse phenotype encompassing chronic mucocutaneous...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:NPJ Genom Med
Prif Awduron: Ovadia, Adi, Sharfe, Nigel, Hawkins, Cynthia, Laughlin, Suzanne, Roifman, Chaim M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group UK 2018
Pynciau:
Case Report
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6102291/
https://ncbi.nlm.nih.gov/pubmed/30131873
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41525-018-0063-6
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