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Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis.
Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Frattini A, et al. Among authors: vezzoni p. J Bone Miner Res. 2003 Oct;18(10):1740-7. doi: 10.1359/jbmr.2003.18.10.1740. J Bone Miner Res. 2003. PMID: 14584882 Free article.
Damaging-agent sensitivity of Artemis-deficient cell lines.
Musio A, Marrella V, Sobacchi C, Rucci F, Fariselli L, Giliani S, Lanzi G, Notarangelo LD, Delia D, Colombo R, Vezzoni P, Villa A. Musio A, et al. Among authors: vezzoni p. Eur J Immunol. 2005 Apr;35(4):1250-6. doi: 10.1002/eji.200425555. Eur J Immunol. 2005. PMID: 15770702 Free article.
Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation in utero.
Frattini A, Blair HC, Sacco MG, Cerisoli F, Faggioli F, Catò EM, Pangrazio A, Musio A, Rucci F, Sobacchi C, Sharrow AC, Kalla SE, Bruzzone MG, Colombo R, Magli MC, Vezzoni P, Villa A. Frattini A, et al. Among authors: vezzoni p. Proc Natl Acad Sci U S A. 2005 Oct 11;102(41):14629-34. doi: 10.1073/pnas.0507637102. Epub 2005 Sep 29. Proc Natl Acad Sci U S A. 2005. PMID: 16195375 Free PMC 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: vezzoni p. Gene. 2006 Aug 1;377:150-8. doi: 10.1016/j.gene.2006.03.024. Epub 2006 May 3. Gene. 2006. PMID: 16787714
RAG-dependent primary immunodeficiencies.
Sobacchi C, Marrella V, Rucci F, Vezzoni P, Villa A. Sobacchi C, et al. Among authors: vezzoni p. Hum Mutat. 2006 Dec;27(12):1174-84. doi: 10.1002/humu.20408. Hum Mutat. 2006. PMID: 16960852 Review.
Osteopetroses and immunodeficiencies in humans.
Villa A, Vezzoni P, Frattini A. Villa A, et al. Among authors: vezzoni p. Curr Opin Allergy Clin Immunol. 2006 Dec;6(6):421-7. doi: 10.1097/01.all.0000246620.26623.5b. Curr Opin Allergy Clin Immunol. 2006. PMID: 17088646 Review.
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
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. Sobacchi C, et al. Among authors: vezzoni p. Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632511
176 results