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Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.
Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R. Lev A, et al. Among authors: shwartz n. J Exp Med. 2021 Mar 1;218(3):e20201062. doi: 10.1084/jem.20201062. J Exp Med. 2021. PMID: 33231617 Free PMC article.
Promotion of bone morphogenetic protein signaling by tetraspanins and glycosphingolipids.
Liu Z, Shi H, Szymczak LC, Aydin T, Yun S, Constas K, Schaeffer A, Ranjan S, Kubba S, Alam E, McMahon DE, He J, Shwartz N, Tian C, Plavskin Y, Lindy A, Dad NA, Sheth S, Amin NM, Zimmerman S, Liu D, Schwarz EM, Smith H, Krause MW, Liu J. Liu Z, et al. Among authors: shwartz n. PLoS Genet. 2015 May 15;11(5):e1005221. doi: 10.1371/journal.pgen.1005221. eCollection 2015 May. PLoS Genet. 2015. PMID: 25978409 Free PMC article.