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Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.
Lalaoui N, Boyden SE, Oda H, Wood GM, Stone DL, Chau D, Liu L, Stoffels M, Kratina T, Lawlor KE, Zaal KJM, Hoffmann PM, Etemadi N, Shield-Artin K, Biben C, Tsai WL, Blake MD, Kuehn HS, Yang D, Anderton H, Silke N, Wachsmuth L, Zheng L, Moura NS, Beck DB, Gutierrez-Cruz G, Ombrello AK, Pinto-Patarroyo GP, Kueh AJ, Herold MJ, Hall C, Wang H, Chae JJ, Dmitrieva NI, McKenzie M, Light A, Barham BK, Jones A, Romeo TM, Zhou Q, Aksentijevich I, Mullikin JC, Gross AJ, Shum AK, Hawkins ED, Masters SL, Lenardo MJ, Boehm M, Rosenzweig SD, Pasparakis M, Voss AK, Gadina M, Kastner DL, Silke J. Lalaoui N, et al. Among authors: dmitrieva ni. Nature. 2020 Jan;577(7788):103-108. doi: 10.1038/s41586-019-1828-5. Epub 2019 Dec 11. Nature. 2020. PMID: 31827281 Free PMC article.
Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC.
Jin H, St Hilaire C, Huang Y, Yang D, Dmitrieva NI, Negro A, Schwartzbeck R, Liu Y, Yu Z, Walts A, Davaine JM, Lee DY, Donahue D, Hsu KS, Chen J, Cheng T, Gahl W, Chen G, Boehm M. Jin H, et al. Among authors: dmitrieva ni. Sci Signal. 2016 Dec 13;9(458):ra121. doi: 10.1126/scisignal.aaf9109. Sci Signal. 2016. PMID: 27965423 Free PMC article.
Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation.
Jin H, Yu Z, Navarengom K, Liu Y, Dmitrieva N, Hsu AP, Schwartzbeck R, Cudrici C, Ferrante EA, Yang D, Holland SM, Freeman AF, Boehm M, Chen G. Jin H, et al. Stem Cell Res. 2019 Dec;41:101586. doi: 10.1016/j.scr.2019.101586. Epub 2019 Oct 17. Stem Cell Res. 2019. PMID: 31707214 Free PMC article.
Long-term health outcomes associated with hydration status.
Dmitrieva NI, Boehm M, Yancey PH, Enhörning S. Dmitrieva NI, et al. Nat Rev Nephrol. 2024 May;20(5):275-294. doi: 10.1038/s41581-024-00817-1. Epub 2024 Feb 26. Nat Rev Nephrol. 2024. PMID: 38409366 Review.
100 results