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Aicardi-Goutières syndrome due to a paternal mosaic IFIH1 mutation.
Tüngler V, Doebler-Neumann M, Salandin M, Kaufmann P, Wolf C, Lucas N, Harmuth F, Reichbauer J, Krägeloh-Mann I, Schüle R, Lee-Kirsch MA. Tüngler V, et al. Neurol Genet. 2019 Dec 19;6(1):e384. doi: 10.1212/NXG.0000000000000384. eCollection 2020 Feb. Neurol Genet. 2019. PMID: 32042913 Free PMC article. No abstract available.
Single-stranded nucleic acids promote SAMHD1 complex formation.
Tüngler V, Staroske W, Kind B, Dobrick M, Kretschmer S, Schmidt F, Krug C, Lorenz M, Chara O, Schwille P, Lee-Kirsch MA. Tüngler V, et al. J Mol Med (Berl). 2013 Jun;91(6):759-70. doi: 10.1007/s00109-013-0995-3. Epub 2013 Jan 31. J Mol Med (Berl). 2013. PMID: 23371319
SAMHD1 prevents autoimmunity by maintaining genome stability.
Kretschmer S, Wolf C, König N, Staroske W, Guck J, Häusler M, Luksch H, Nguyen LA, Kim B, Alexopoulou D, Dahl A, Rapp A, Cardoso MC, Shevchenko A, Lee-Kirsch MA. Kretschmer S, et al. Ann Rheum Dis. 2015 Mar;74(3):e17. doi: 10.1136/annrheumdis-2013-204845. Epub 2014 Jan 20. Ann Rheum Dis. 2015. PMID: 24445253 Free PMC article.
Familial chilblain lupus due to a gain-of-function mutation in STING.
König N, Fiehn C, Wolf C, Schuster M, Cura Costa E, Tüngler V, Alvarez HA, Chara O, Engel K, Goldbach-Mansky R, Günther C, Lee-Kirsch MA. König N, et al. Ann Rheum Dis. 2017 Feb;76(2):468-472. doi: 10.1136/annrheumdis-2016-209841. Epub 2016 Aug 26. Ann Rheum Dis. 2017. PMID: 27566796
108 results