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Page 1
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: facchetti f. J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928. J Clin Invest. 2007. PMID: 17476358 Free PMC article.
AIRE deficiency in thymus of 2 patients with Omenn syndrome.
Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R. Cavadini P, et al. Among authors: facchetti f. J Clin Invest. 2005 Mar;115(3):728-32. doi: 10.1172/JCI23087. J Clin Invest. 2005. PMID: 15696198 Free PMC article.
Defect of regulatory T cells in patients with Omenn syndrome.
Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R. Cassani B, et al. Among authors: facchetti f. J Allergy Clin Immunol. 2010 Jan;125(1):209-16. doi: 10.1016/j.jaci.2009.10.023. J Allergy Clin Immunol. 2010. PMID: 20109747
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: facchetti f. 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.
Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement.
Pangrazio A, Poliani PL, Megarbane A, Lefranc G, Lanino E, Di Rocco M, Rucci F, Lucchini F, Ravanini M, Facchetti F, Abinun M, Vezzoni P, Villa A, Frattini A. Pangrazio A, et al. Among authors: facchetti f. J Bone Miner Res. 2006 Jul;21(7):1098-105. doi: 10.1359/jbmr.060403. J Bone Miner Res. 2006. PMID: 16813530 Free article.
Tissue-specific sensitivity to AID expression in transgenic mouse models.
Rucci F, Cattaneo L, Marrella V, Sacco MG, Sobacchi C, Lucchini F, Nicola S, Della Bella S, Villa ML, Imberti L, Gentili F, Montagna C, Tiveron C, Tatangelo L, Facchetti F, Vezzoni P, Villa A. Rucci F, et al. Among authors: facchetti f. Gene. 2006 Aug 1;377:150-8. doi: 10.1016/j.gene.2006.03.024. Epub 2006 May 3. Gene. 2006. PMID: 16787714
468 results