Pubblicazioni selezionate - dr.ssa Anna Villa

1. Villa A, Notarangelo LD, DiSanto JP, Macchi PP, Strina D, Frattini A, Lucchini F, Patrosso MC, Giliani S, Mantuano E, Agosti S, Nocera G, Kroczek RA, Fischer A, Ugazio AG, G de St Basile, Vezzoni P. Organization of the human CD40L gene: implications for molecular defects in X-linked hyper-IgM syndrome and prenatal diagnosis.   Proc Natl Acad Sci USA 91:2110-2114, 1994

2. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, Ugazio A , Vezzoni P. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the Wasp gene. Nature Genet 9:414-417, 1995

3.  Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio A, Johnston J, Candotti F, O' Shea J, Vezzoni P, Notarangelo G. Mutations of JAK3 gene in patients with autosomal severe combined immunodeficiency (SCID).   Nature 377:65-68, 1995

4. Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Benerini Gatta L, Ochs HD, Schwarz K, Notarangelo L, Vezzoni P and Spanopoulou E.  Partial V(D)J recombination activity leads to Omenn syndrome. Cell 93: 885-896, 1998

5. SantagataS, GomezCA, SobacchiC, BozziF, AbinunM, PasicS, CortesP, VezzoniP, VillaA. N-terminal RAG1 frameshift mutations in Omenn syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains. Proc Natl Acad Sci USA, 97:14572-14577, 2000

6. FrattiniF, OrchardPJ, SobacchiC, GilianiS, AbinunM,. Mattsson JP, KeelingDJ, AnderssonAK, WallbrandtP, ZeccaL, NotarangeloLD, VezzoniP and VillaA. Defects in the TCIRG1-encoded 116kD subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nature Genet, 25:343-346, 2000

7. Chalhoub N, Benachenhou N, Rajapurohitam V, Pata M, Ferron M, Frattini A, Villa A, Vacher J. Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. Nat Med. 9:399-406, 2003

8. Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, Mackay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W.   Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans. J Clin Invest. 117:919-930, 2007

9. 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.  A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest. 117:1260-1269, 2007.

10. Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Nat Genet. 39:960-962, 2007

11. Villa A, Marrella V, Rucci F, Notarangelo LD.Genetically determined lymphopenia and autoimmune manifestations.Curr Opin Immunol. 2008 Jun;20(3):318-324Marrella V, Poliani PL, Sobacchi C, Grassi F, Villa A.Of Omenn and mice.Trends Immunol. 2008 29(3):133-40.

12. Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A.Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.Am J Hum Genet. 2008 Jul;83(1):64-76.