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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. Among authors: ruiz moreno js. 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.
STING SNP R293Q Is Associated with a Decreased Risk of Aging-Related Diseases.
Hamann L, Ruiz-Moreno JS, Szwed M, Mossakowska M, Lundvall L, Schumann RR, Opitz B, Puzianowska-Kuznicka M. Hamann L, et al. Among authors: ruiz moreno js. Gerontology. 2019;65(2):145-154. doi: 10.1159/000492972. Epub 2018 Oct 26. Gerontology. 2019. PMID: 30368497 Free article.
Correction: 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. Among authors: ruiz moreno js. J Immunol. 2017 Jun 1;198(11):4547. doi: 10.4049/jimmunol.1700477. J Immunol. 2017. PMID: 28533283 No abstract available.
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.