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A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.
Marrella V, Poliani PL, Casati A, Rucci F, Frascoli L, Gougeon ML, Lemercier B, Bosticardo M, Ravanini M, Battaglia M, Roncarolo MG, Cavazzana-Calvo M, Facchetti F, Notarangelo LD, Vezzoni P, Grassi F, Villa A. Marrella V, et al. Among authors: poliani pl. J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928. J Clin Invest. 2007. PMID: 17476358 Free PMC article.
Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT. Rucci F, et al. Among authors: poliani pl. Proc Natl Acad Sci U S A. 2010 Feb 16;107(7):3024-9. doi: 10.1073/pnas.0914865107. Epub 2010 Feb 1. Proc Natl Acad Sci U S A. 2010. PMID: 20133615 Free PMC article.
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. De Ravin SS, et al. Among authors: poliani pl. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20. Blood. 2010. PMID: 20489056 Free PMC article.
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.
Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. Walter JE, et al. Among authors: poliani pl. J Exp Med. 2010 Jul 5;207(7):1541-54. doi: 10.1084/jem.20091927. Epub 2010 Jun 14. J Exp Med. 2010. PMID: 20547827 Free PMC article.
157 results