TY  - JOUR
AU  - Zimmerman, Ofer
AU  - Olbrich, Peter
AU  - Freeman, Alexandra F
AU  - Rosen, Lindsey B
AU  - Uzel, Gulbu
AU  - Zerbe, Christa S
AU  - Rosenzweig, Sergio D
AU  - Kuehn, Hye Sun
AU  - Holmes, Kevin L
AU  - Stephany, David
AU  - Ding, Li
AU  - Sampaio, Elizabeth P
AU  - Hsu, Amy P
AU  - Holland, Steven M
PY  - 2019
DO  - 10.3389/fimmu.2019.01433
UR  - http://hdl.handle.net/10668/14326
T2  - Frontiers in immunology
AB  - 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...
LA  - en
KW  - JAK inhibitors
KW  - STAT1
KW  - T cells
KW  - dephosphorylation
KW  - gain of function
KW  - mRNA
KW  - monocytes
KW  - protein
KW  - Adolescent
KW  - Adult
KW  - Autoimmune Diseases
KW  - Cells, Cultured
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Gain of Function Mutation
KW  - Humans
KW  - Leukocytes, Mononuclear
KW  - Male
KW  - Middle Aged
KW  - Mycoses
KW  - Phosphorylation
KW  - Proteolysis
KW  - STAT1 Transcription Factor
KW  - Up-Regulation
KW  - Young Adult
TI  - STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation.
TY  - research article
VL  - 10
ER  -