PubMed (cited) for id: 600555

Year	Number of Results
1990	1
1992	1
1994	1
1995	3
1996	3
1997	1
1998	3
2000	1
2001	3
2002	2
2003	6
2004	2
2005	2
2006	2
2008	1
2010	1
2011	3
2012	2
2013	4
2014	3
2015	1
2017	2
2018	1
2019	1
2024	0

1

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Stellacci E, Moneta GM, Bruselles A, Barresi S, Pizzi S, Torre G, De Benedetti F, Tartaglia M, Insalaco A. Stellacci E, et al. Clin Genet. 2019 Dec;96(6):585-589. doi: 10.1111/cge.13632. Epub 2019 Sep 4. Clin Genet. 2019. PMID: 31448411

2

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

Hartono SP, Vargas-Hernández A, Ponsford MJ, Chinn IK, Jolles S, Wilson K, Forbes LR. Hartono SP, et al. J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13. J Clin Immunol. 2018. PMID: 30317461 No abstract available.

3

Unphosphorylated ISGF3 drives constitutive expression of interferon-stimulated genes to protect against viral infections.

Wang W, Yin Y, Xu L, Su J, Huang F, Wang Y, Boor PPC, Chen K, Wang W, Cao W, Zhou X, Liu P, van der Laan LJW, Kwekkeboom J, Peppelenbosch MP, Pan Q. Wang W, et al. Sci Signal. 2017 Apr 25;10(476):eaah4248. doi: 10.1126/scisignal.aah4248. Sci Signal. 2017. PMID: 28442624

4

Type I interferon-regulated gene expression and signaling in murine mixed glial cells lacking signal transducers and activators of transcription 1 or 2 or interferon regulatory factor 9.

Li W, Hofer MJ, Songkhunawej P, Jung SR, Hancock D, Denyer G, Campbell IL. Li W, et al. J Biol Chem. 2017 Apr 7;292(14):5845-5859. doi: 10.1074/jbc.M116.756510. Epub 2017 Feb 17. J Biol Chem. 2017. PMID: 28213522 Free PMC article.

5

Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.

Mørk N, Kofod-Olsen E, Sørensen KB, Bach E, Ørntoft TF, Østergaard L, Paludan SR, Christiansen M, Mogensen TH. Mørk N, et al. Genes Immun. 2015 Dec;16(8):552-66. doi: 10.1038/gene.2015.46. Epub 2015 Oct 29. Genes Immun. 2015. PMID: 26513235

6

Two novel gain-of-function mutations of STAT1 responsible for chronic mucocutaneous candidiasis disease: impaired production of IL-17A and IL-22, and the presence of anti-IL-17F autoantibody.

Yamazaki Y, Yamada M, Kawai T, Morio T, Onodera M, Ueki M, Watanabe N, Takada H, Takezaki S, Chida N, Kobayashi I, Ariga T. Yamazaki Y, et al. J Immunol. 2014 Nov 15;193(10):4880-7. doi: 10.4049/jimmunol.1401467. Epub 2014 Oct 6. J Immunol. 2014. PMID: 25288569

7

STAT1 signaling is essential for protection against Cryptococcus neoformans infection in mice.

Leopold Wager CM, Hole CR, Wozniak KL, Olszewski MA, Wormley FL Jr. Leopold Wager CM, et al. J Immunol. 2014 Oct 15;193(8):4060-71. doi: 10.4049/jimmunol.1400318. Epub 2014 Sep 8. J Immunol. 2014. PMID: 25200956 Free PMC article.

8

Ebola virus VP24 targets a unique NLS binding site on karyopherin alpha 5 to selectively compete with nuclear import of phosphorylated STAT1.

Xu W, Edwards MR, Borek DM, Feagins AR, Mittal A, Alinger JB, Berry KN, Yen B, Hamilton J, Brett TJ, Pappu RV, Leung DW, Basler CF, Amarasinghe GK. Xu W, et al. Cell Host Microbe. 2014 Aug 13;16(2):187-200. doi: 10.1016/j.chom.2014.07.008. Cell Host Microbe. 2014. PMID: 25121748 Free PMC article.

9

New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Soltész B, Tóth B, Shabashova N, Bondarenko A, Okada S, Cypowyj S, Abhyankar A, Csorba G, Taskó S, Sarkadi AK, Méhes L, Rozsíval P, Neumann D, Chernyshova L, Tulassay Z, Puel A, Casanova JL, Sediva A, Litzman J, Maródi L. Soltész B, et al. J Med Genet. 2013 Sep;50(9):567-78. doi: 10.1136/jmedgenet-2013-101570. Epub 2013 May 24. J Med Genet. 2013. PMID: 23709754 Free PMC article.

10

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

Sampaio EP, Hsu AP, Pechacek J, Bax HI, Dias DL, Paulson ML, Chandrasekaran P, Rosen LB, Carvalho DS, Ding L, Vinh DC, Browne SK, Datta S, Milner JD, Kuhns DB, Long Priel DA, Sadat MA, Shiloh M, De Marco B, Alvares M, Gillman JW, Ramarathnam V, de la Morena M, Bezrodnik L, Moreira I, Uzel G, Johnson D, Spalding C, Zerbe CS, Wiley H, Greenberg DE, Hoover SE, Rosenzweig SD, Galgiani JN, Holland SM. Sampaio EP, et al. J Allergy Clin Immunol. 2013 Jun;131(6):1624-34. doi: 10.1016/j.jaci.2013.01.052. Epub 2013 Mar 28. J Allergy Clin Immunol. 2013. PMID: 23541320 Free PMC article.

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