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Reply: To PMID 24332219.
van Til NP, Cortes P, Danos O, Cassani B, Poliani PL, Villa A, Wagemaker G. van Til NP, et al. Among authors: villa a. J Allergy Clin Immunol. 2014 Jul;134(1):243-4. doi: 10.1016/j.jaci.2014.04.032. Epub 2014 Jun 26. J Allergy Clin Immunol. 2014. PMID: 25117804 No abstract available.
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: villa a. 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: villa a. 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.
The genetic and biochemical basis of Omenn syndrome.
Santagata S, Villa A, Sobacchi C, Cortes P, Vezzoni P. Santagata S, et al. Among authors: villa a. Immunol Rev. 2000 Dec;178:64-74. doi: 10.1034/j.1600-065x.2000.17818.x. Immunol Rev. 2000. PMID: 11213808 Review.
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: villa a. J Clin Invest. 2007 May;117(5):1260-9. doi: 10.1172/JCI30928. J Clin Invest. 2007. PMID: 17476358 Free PMC article.
Of Omenn and mice.
Marrella V, Poliani PL, Sobacchi C, Grassi F, Villa A. Marrella V, et al. Among authors: villa a. Trends Immunol. 2008 Mar;29(3):133-40. doi: 10.1016/j.it.2007.12.001. Epub 2008 Feb 5. Trends Immunol. 2008. PMID: 18255337 Review.
1,829 results