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Page 1
Prenatal diagnosis of RAG-deficient Omenn syndrome.
Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P. Villa A, et al. Among authors: sobacchi c. Prenat Diagn. 2000 Jan;20(1):56-9. Prenat Diagn. 2000. PMID: 10701853
The osteoblast secretome in Staphylococcus aureus osteomyelitis.
Granata V, Possetti V, Parente R, Bottazzi B, Inforzato A, Sobacchi C. Granata V, et al. Among authors: sobacchi c. Front Immunol. 2022 Nov 22;13:1048505. doi: 10.3389/fimmu.2022.1048505. eCollection 2022. Front Immunol. 2022. PMID: 36483565 Free PMC article. Review.
Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies.
Gomez CA, Ptaszek LM, Villa A, Bozzi F, Sobacchi C, Brooks EG, Notarangelo LD, Spanopoulou E, Pan ZQ, Vezzoni P, Cortes P, Santagata S. Gomez CA, et al. Among authors: sobacchi c. Mol Cell Biol. 2000 Aug;20(15):5653-64. doi: 10.1128/MCB.20.15.5653-5664.2000. Mol Cell Biol. 2000. PMID: 10891502 Free PMC article.
N-terminal RAG1 frameshift mutations in Omenn's syndrome: internal methionine usage leads to partial V(D)J recombination activity and reveals a fundamental role in vivo for the N-terminal domains.
Santagata S, Gomez CA, Sobacchi C, Bozzi F, Abinun M, Pasic S, Cortes P, Vezzoni P, Villa A. Santagata S, et al. Among authors: sobacchi c. Proc Natl Acad Sci U S A. 2000 Dec 19;97(26):14572-7. doi: 10.1073/pnas.97.26.14572. Proc Natl Acad Sci U S A. 2000. PMID: 11121059 Free PMC article.
V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. Villa A, et al. Among authors: sobacchi c. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
The genetic and biochemical basis of Omenn syndrome.
Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P. Santagata S, et al. Among authors: sobacchi c. Immunol Rev. 2000 Dec;178:64-74. doi: 10.1034/j.1600-065x.2000.17818.x. Immunol Rev. 2000. PMID: 11213808 Review.
The mutational spectrum of human malignant autosomal recessive osteopetrosis.
Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. Sobacchi C, et al. Hum Mol Genet. 2001 Aug 15;10(17):1767-73. doi: 10.1093/hmg/10.17.1767. Hum Mol Genet. 2001. PMID: 11532986
87 results