1 - 25 of 52 results for author:"Vezzoni P." in Literature citations
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| Anti-CD3epsilon mAb improves thymic architecture and prevents autoimmune manifestations in a mouse model of Omenn syndrome: therapeutic implications. Marrella V., Poliani P.L., Fontana E., Casati A., Maina V., Cassani B., Ficara F., Cominelli M., Schena F., Paulis M. et al. Blood 120:1005-1014(2012) · Mapped (4) |
| Artemis C-terminal region facilitates V(D)J recombination through its interactions with DNA Ligase IV and DNA-PKcs. Malu S., De Ioannes P., Kozlov M., Greene M., Francis D., Hanna M., Pena J., Escalante C.R., Kurosawa A., Erdjument-Bromage H. et al. J. Exp. Med. 209:955-963(2012) · Mapped (4) |
| RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations. Pangrazio A., Cassani B., Guerrini M.M., Crockett J.C., Marrella V., Zammataro L., Strina D., Schulz A., Schlack C., Kornak U. et al. J. Bone Miner. Res. 27:342-351(2012) · Mapped (6) |
| Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome. Cassani B., Poliani P.L., Marrella V., Schena F., Sauer A.V., Ravanini M., Strina D., Busse C.E., Regenass S., Wardemann H. et al. J. Exp. Med. 207:1525-1540(2010) · Mapped (4) |
| Analysis of mutations from SCID and Omenn syndrome patients reveals the central role of the Rag2 PHD domain in regulating V(D)J recombination. Couedel C., Roman C., Jones A., Vezzoni P., Villa A., Cortes P. J. Clin. Invest. 120:1337-1344(2010) · Mapped (4) |
| Defect of regulatory T cells in patients with Omenn syndrome. Cassani B., Poliani P.L., Moratto D., Sobacchi C., Marrella V., Imperatori L., Vairo D., Plebani A., Giliani S., Vezzoni P. et al. J. Allergy Clin. Immunol. 125:209-216(2010) · Mapped (5) |
| Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Pangrazio A., Pusch M., Caldana E., Frattini A., Lanino E., Tamhankar P.M., Phadke S., Lopez A.G., Orchard P., Mihci E. et al. Hum. Mutat. 31:E1071-E1080(2010) · UniProtKB (1) · Mapped (10) |
| Osteopetrosis with micro-lacunar resorption because of defective integrin organization. Blair H.C., Yaroslavskiy B.B., Robinson L.J., Mapara M.Y., Pangrazio A., Guo L., Chen K., Vezzoni P., Tolar J., Orchard P.J. Lab. Invest. 89:1007-1017(2009) · Mapped (14) |
| In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knockin murine model for classical, dominant osteogenesis imperfecta. Panaroni C., Gioia R., Lupi A., Besio R., Goldstein S.A., Kreider J., Leikin S., Vera J.C., Mertz E.L., Perilli E. et al. Blood 114:459-468(2009) · Mapped (3) |
| Fetal liver cells transplanted in utero rescue the osteopetrotic phenotype in the oc/oc mouse. Tondelli B., Blair H.C., Guerrini M., Patrene K.D., Cassani B., Vezzoni P., Lucchini F. Am. J. Pathol. 174:727-735(2009) · Mapped (5) |
| Cornelia de Lange syndrome mutations in SMC1A or SMC3 affect binding to DNA. Revenkova E., Focarelli M.L., Susani L., Paulis M., Bassi M.T., Mannini L., Frattini A., Delia D., Krantz I., Vezzoni P. et al. Hum. Mol. Genet. 18:418-427(2009) · UniProtKB (2) · Mapped (9) |
| Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Guerrini M.M., Sobacchi C., Cassani B., Abinun M., Kilic S.S., Pangrazio A., Moratto D., Mazzolari E., Clayton-Smith J., Orchard P. et al. Am. J. Hum. Genet. 83:64-76(2008) · UniProtKB (1) · Mapped (5) |
| Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. Sobacchi C., Frattini A., Guerrini M.M., Abinun M., Pangrazio A., Susani L., Bredius R., Mancini G., Cant A., Bishop N. et al. |
| A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. Marrella V., Poliani P.L., Casati A., Rucci F., Frascoli L., Gougeon M.L., Lemercier B., Bosticardo M., Ravanini M., Battaglia M. et al. J. Clin. Invest. 117:1260-1269(2007) · Mapped (4) |
| Mutations in OSTM1 (grey lethal) define a particularly severe form of autosomal recessive osteopetrosis with neural involvement. Pangrazio A., Poliani P.L., Megarbane A., Lefranc G., Lanino E., Di Rocco M., Rucci F., Lucchini F., Ravanini M., Facchetti F. et al. J. Bone Miner. Res. 21:1098-1105(2006) · UniProtKB (1) · Mapped (5) |
| Tissue-specific sensitivity to AID expression in transgenic mouse models. Rucci F., Cattaneo L., Marrella V., Sacco M.G., Sobacchi C., Lucchini F., Nicola S., Della Bella S., Villa M.L., Imberti L. et al. Gene 377:150-158(2006) · Mapped (2) |
| X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations. Musio A., Selicorni A., Focarelli M.L., Gervasini C., Milani D., Russo S., Vezzoni P., Larizza L. |
| SMC1 inhibition results in FRA3B expression but has no effect on its delayed replication. Focarelli M.L., Montagna C., Colombo R., Ried T., Vezzoni P., Musio A. Mutat. Res. 595:23-28(2006) · Mapped (17) |
| Polymorphisms of the CLCN7 gene are associated with BMD in women. Pettersson U., Albagha O.M., Mirolo M., Taranta A., Frattini A., McGuigan F.E., Vezzoni P., Teti A., van Hul W., Reid D.M. et al. J. Bone Miner. Res. 20:1960-1967(2005) · Mapped (11) |
| SMC1 involvement in fragile site expression. Musio A., Montagna C., Mariani T., Tilenni M., Focarelli M.L., Brait L., Indino E., Benedetti P.A., Chessa L., Albertini A. et al. Hum. Mol. Genet. 14:525-533(2005) · Mapped (8) |
| TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Susani L., Pangrazio A., Sobacchi C., Taranta A., Mortier G., Savarirayan R., Villa A., Orchard P., Vezzoni P., Albertini A. et al. |
| Recapitulation of the Roberts syndrome cellular phenotype by inhibition of INCENP, ZWINT-1 and ZW10 genes. Musio A., Mariani T., Montagna C., Zambroni D., Ascoli C., Ried T., Vezzoni P. Gene 331:33-40(2004) · UniProtKB (2) |
| 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 E.M., Mihci E. et al. J. Bone Miner. Res. 18:1740-1747(2003) · UniProtKB (1) · Mapped (18) |
| Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. Sobacchi C., Vezzoni P., Reid D.M., McGuigan F.E., Frattini A., Mirolo M., Albhaga O.M., Musio A., Villa A., Ralston S.H. Calcif. Tissue Int. 74:35-41(2004) · Mapped (8) |
| 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. et al. Hum. Mol. Genet. 10:1767-1773(2001) · UniProtKB (1) · Mapped (16) |