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STAT1Signal Transducer and Activator of Transcription 1 (also seen as STAT-1)
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Many patients in this group could not be identified genetically until GOF heterozygous mis-sense mutations in the STAT1 molecule were defined in this decade [10,11].
Therefore, we examined the expression of transcriptional factors for Th1 (T-bet, STAT1) and Th2 (GATA3) cells in the spleen using qPCR.
Of importance here is that, in this study, all dominant partial cases were heterozygous for IFNGR1 low-frequency variants c.819_822del, 818delT, or 832G>T--all producing premature translation stop, resulting in IFN-[gamma]-R1 proteins truncated in the extracellular domain; lacking intracellular domains, JAK1, and STAT1 binding sites.
Western blot analysis was performed as described in the literature to evaluate the expressions of STAT1 and STAT2.
STATI Progressive dysregulation of STAT1 in prostate cancer cells contributes to prostate tumor growth (55).
(23) IL-27 activates STAT1 and STAT3 and enhances antitumor cellular and humoral immunity.
[5] Human genes: PAPPA, pregnancy-associated plasma protein A, pappalysin 1; H19, H19, imprinted maternally expressed transcript (non-protein coding); STAT1, signal transducer and activator of transcription 1, 91kDa; GBP1, guanylate binding protein 1, interferon-inducible; HSD17B1, hydroxysteroid (17-beta) dehydrogenase 1; KRT18, keratin 18; GADD45G, growth arrest and DNA-damage-inducible, gamma.
Tia Pugh, who loves Peppa Pig and the Muppets, has an extremely rare form of immune deficiency called STAT1 deficiency.
Tia has STAT1 immune deficiency and tuberculosis-like mycobacterium malmoense.
A new study led by Professor Uwe Vinkemeier from the University of Nottingham, centered on STAT1, a protein that can bind DNA and hence plays a vital role in regulating genes in the body.
For example, STAT1 is absolutely required for the actions of interferons, STAT4 is absolutely necessary for the actions of interleukin-12 (IL-12), STAT6 is required for the actions of interleukin-4 (IL-4), and JAK3 is required for the actions of cytokines that use the common y receptor [5].