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Your search keyword '"Mossetti, Giuseppe"' showing total 6 results
Start Over Author "Mossetti, Giuseppe" Publisher wiley
6 results on '"Mossetti, Giuseppe"'

1. A nonsynonymousTNFRSF11Avariation increases NFκB activity and the severity of Paget's disease

Author

Gianfrancesco, Fernando, primary, Rendina, Domenico, additional, Di Stefano, Marco, additional, Mingione, Alessandra, additional, Esposito, Teresa, additional, Merlotti, Daniela, additional, Gallone, Salvatore, additional, Magliocca, Sara, additional, Goode, Alice, additional, Formicola, Daniela, additional, Morello, Giovanna, additional, Layfield, Robert, additional, Frattini, Annalisa, additional, De Filippo, Gianpaolo, additional, Nuti, Ranuccio, additional, Searle, Mark, additional, Strazzullo, Pasquale, additional, Isaia, Giancarlo, additional, Mossetti, Giuseppe, additional, and Gennari, Luigi, additional

Published
2012
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2. Comparison of intravenous and intramuscular neridronate regimens for the treatment of paget disease of bone

Author

Merlotti, Daniela, primary, Rendina, Domenico, additional, Gennari, Luigi, additional, Mossetti, Giuseppe, additional, Gianfrancesco, Fernando, additional, Martini, Giuseppe, additional, De Filippo, Gianpaolo, additional, Avanzati, Annalisa, additional, Franci, Beatrice, additional, Campagna, Maria Stella, additional, Strazzullo, Pasquale, additional, and Nuti, Ranuccio, additional

Published
2011
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3. SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

Author

Gennari, Luigi, primary, Gianfrancesco, Fernando, additional, Di Stefano, Marco, additional, Rendina, Domenico, additional, Merlotti, Daniela, additional, Esposito, Teresa, additional, Gallone, Salvatore, additional, Fusco, Pina, additional, Rainero, Innocenzo, additional, Fenoglio, Pierpaola, additional, Mancini, Maria, additional, Martini, Giuseppe, additional, Bergui, Simona, additional, De Filippo, Gianpaolo, additional, Isaia, Giancarlo, additional, Strazzullo, Pasquale, additional, Nuti, Ranuccio, additional, and Mossetti, Giuseppe, additional

Published
2010
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6. SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

Author

Pina Fusco, Teresa Esposito, Maria Mancini, Luigi Gennari, Pasquale Strazzullo, Giuseppe Martini, P Fenoglio, Fernando Gianfrancesco, Gianpaolo De Filippo, Ranuccio Nuti, Giancarlo Isaia, Daniela Merlotti, Marco Di Stefano, Salvatore Gallone, Innocenzo Rainero, Giuseppe Mossetti, Simona Bergui, Domenico Rendina, Gennari, L, Gianfrancesco, F, Di Stefano, M, Rendina, Domenico, Merlotti, D, Esposito, T, Gallone, S, Fusco, P, Rainero, I, Fenoglio, P, Mancini, M, Martini, G, Bergui, S, De Filippo, G, Isaia, G, Strazzullo, Pasquale, Nuti, R, and Mossetti, Giuseppe

Subjects
Male, medicine.medical_specialty, Pathology, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Disease, Environment, medicine.disease_cause, PAGET’S DISEASE OF BONE, Gastroenterology, Internal medicine, Sequestosome-1 Protein, Genetics, Prevalence, medicine, Humans, Missense mutation, SQSTM1, Orthopedics and Sports Medicine, Gene, Adaptor Proteins, Signal Transducing, Aged, Mutation, Giant cell tumor, Paget's disease of bone, Geography, business.industry, Middle Aged, Osteitis Deformans, medicine.disease, Phenotype, Pedigree, Haplotypes, Italy, Giant cell, Case-Control Studies, Etiology, Female, business
Abstract

Even though SQSTM1 gene mutations have been identified in a consistent number of patients, the etiology of Paget's disease of bone (PDB) remains in part unknown. In this study we analyzed SQSTM1 mutations in 533 of 608 consecutive PDB patients from several regions, including the high-prevalence area of Campania (also characterized by increased severity of PDB, higher number of familial cases, and peculiar phenotypic characteristics as giant cell tumor). Eleven different mutations (Y383X, P387L, P392L, E396X, M401V, M404V, G411S, D423X, G425E, G425R, and A427D) were observed in 34 of 92 (37%) and 43 of 441 (10%) of familial and sporadic PDB patients, respectively. All five patients with giant cell tumor complicating familial PDB were negative for SQSTM1 mutations. An increased heterogeneity and a different distribution of mutations were observed in southern Italy (showing 9 of the 11 mutations) than in central and northern Italy. Genotype-phenotype analysis showed only a modest reduction in age at diagnosis in patients with truncating versus missense mutations, whereas the number of affected skeletal sites did not differ significantly. Patients from Campania had the highest prevalence of animal contacts (i.e., working or living on a farm or pet ownership) without any difference between patients with or without mutation. However, when familial cases from Campania were considered, animal contacts were observed in 90% of families without mutations. Interestingly, a progressive age-related decrease in the prevalence of animal contacts, as well as a parallel increase in the prevalence of SQSTM1 mutations, was observed in most regions except in the subgroup of patients from Campania. Moreover, patients reporting animal contacts showed an increased number of affected sites (2.54 ± 2.0 versus 2.19 ± 1.9, p

Published
2010
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