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The common HAQ STING variant impairs cGAS-dependent antibacterial responses and is associated with susceptibility to Legionnaires' disease in humans.
Ruiz-Moreno JS, Hamann L, Shah JA, Verbon A, Mockenhaupt FP, Puzianowska-Kuznicka M, Naujoks J, Sander LE, Witzenrath M, Cambier JC, Suttorp N, Schumann RR, Jin L, Hawn TR, Opitz B; CAPNETZ Study Group. Ruiz-Moreno JS, et al. PLoS Pathog. 2018 Jan 3;14(1):e1006829. doi: 10.1371/journal.ppat.1006829. eCollection 2018 Jan. PLoS Pathog. 2018. PMID: 29298342 Free PMC article. Clinical Trial.
cGAS drives noncanonical-inflammasome activation in age-related macular degeneration.
Kerur N, Fukuda S, Banerjee D, Kim Y, Fu D, Apicella I, Varshney A, Yasuma R, Fowler BJ, Baghdasaryan E, Marion KM, Huang X, Yasuma T, Hirano Y, Serbulea V, Ambati M, Ambati VL, Kajiwara Y, Ambati K, Hirahara S, Bastos-Carvalho A, Ogura Y, Terasaki H, Oshika T, Kim KB, Hinton DR, Leitinger N, Cambier JC, Buxbaum JD, Kenney MC, Jazwinski SM, Nagai H, Hara I, West AP, Fitzgerald KA, Sadda SR, Gelfand BD, Ambati J. Kerur N, et al. Nat Med. 2018 Jan;24(1):50-61. doi: 10.1038/nm.4450. Epub 2017 Nov 27. Nat Med. 2018. PMID: 29176737 Free PMC article.
The Common R71H-G230A-R293Q Human TMEM173 Is a Null Allele.
Patel S, Blaauboer SM, Tucker HR, Mansouri S, Ruiz-Moreno JS, Hamann L, Schumann RR, Opitz B, Jin L. Patel S, et al. J Immunol. 2017 Jan 15;198(2):776-787. doi: 10.4049/jimmunol.1601585. Epub 2016 Dec 7. J Immunol. 2017. PMID: 27927967 Free PMC article.