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EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.
Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD. Volpi S, et al. Among authors: martini a. J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1. J Exp Med. 2017. PMID: 28148688 Free PMC article.
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome.
Cassani B, Poliani PL, Marrella V, Schena F, Sauer AV, Ravanini M, Strina D, Busse CE, Regenass S, Wardemann H, Martini A, Facchetti F, van der Burg M, Rolink AG, Vezzoni P, Grassi F, Traggiai E, Villa A. Cassani B, et al. Among authors: martini a. J Exp Med. 2010 Jul 5;207(7):1525-40. doi: 10.1084/jem.20091928. Epub 2010 Jun 14. J Exp Med. 2010. PMID: 20547828 Free PMC article.
Recurrent pericarditis in Myhre syndrome.
Picco P, Naselli A, Pala G, Marsciani A, Buoncompagni A, Martini A. Picco P, et al. Among authors: martini a. Am J Med Genet A. 2013 May;161A(5):1164-6. doi: 10.1002/ajmg.a.35892. Am J Med Genet A. 2013. PMID: 23610053
Murine Rankl-/- Mesenchymal Stromal Cells Display an Osteogenic Differentiation Defect Improved by a RANKL-Expressing Lentiviral Vector.
Schena F, Menale C, Caci E, Diomede L, Palagano E, Recordati C, Sandri M, Tampieri A, Bortolomai I, Capo V, Pastorino C, Bertoni A, Gattorno M, Martini A, Villa A, Traggiai E, Sobacchi C. Schena F, et al. Among authors: martini a. Stem Cells. 2017 May;35(5):1365-1377. doi: 10.1002/stem.2574. Epub 2017 Mar 1. Stem Cells. 2017. PMID: 28100034
2,015 results