Sfoglia per Autore
Proteoglycan modifications in cultured Osteogenesis Imperfecta skin fibroblasts.
1984-01-01 De Luca, Giancarlo; Tira, MARIA ENRICA; Rindi, Simonetta; Salvini, Roberta; Cetta, Giuseppe; Castellani, Alessandro
Localization of a structural defect in type I procollagen in a patient affected with the severe non-lethal form of Osteogenesis imperfecta.
1987-01-01 Dyne, KATHARINE MARY; Cetta, Giuseppe; Tenni, Ruggero; Rossi, Antonio; Finardi, E; Brunelli, Pc; Castellani, Alessandro
Prolidase deficiency in two siblings with chronic leg ulcerations. Clinical, biochemical, and morphologic aspects.
1987-01-01 Leoni, A; Cetta, Giuseppe; Tenni, Ruggero; Pasquali Ronchetti, I; Bertolini, F; Guerra, D; Dyne, KATHARINE MARY; Castellani, Alessandro
Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.
1988-01-01 Tenni, Ruggero; Cetta, Giuseppe; Dyne, KATHARINE MARY; Rossi, Antonio; Quacci, D; Lenzi, L; Castellani, Alessandro
Effect of the triterpenoid fraction of Centella asiatica on macromolecules of the connective matrix in human skin fibroblast cultures.
1988-01-01 Tenni, Ruggero; Zanaboni, Giuseppe; De Agostini, Mp; Rossi, Antonio; Bendotti, C; Cetta, Giuseppe
Severe nonlethal osteogenesis imperfecta: biochemical heterogeneity.
1988-01-01 Tenni, Ruggero; Cetta, Giuseppe; Dyne, KATHARINE MARY; Valli, Maurizia; Zanaboni, Giuseppe; Castellani, Alessandro
Relationship between changes in alveolar surfactant levels and lung defence mechanisms.
1989-01-01 Pozzi, Ernesto; Luisetti, Maurizio; L., Spialtini; P., Coccia; Rossi, Albino; M., Donnini; Cetta, Giuseppe; M., Salmona; Rossi, Antonio
Anomalous cysteine in type I collagen. Localisation by chemical cleavage of the protein using 2-nitro-5-thiocyanobenzoic acid and by mismatch analysis of cDNA heteroduplexes.
1990-01-01 Tenni, Ruggero; Rossi, Antonio; Valli, Maurizia; Mottes, M; Pignatti, Pf; Cetta, Giuseppe
Moderately severe osteogenesis imperfecta: biochemical studies showing variable defect localization in the triple-helical domain of type I collagen.
1990-01-01 Valli, Maurizia; Tenni, Ruggero; Cetta, Giuseppe
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfecta.
1991-01-01 Tenni, Ruggero; Biglino, P; Dyne, KATHARINE MARY; Rossi, Antonio; Filocamo, M; Pendola, F; Brunelli, P; Buttitta, P; Borrone, C; Cetta, Giuseppe
A de novo G to T transversion in a pro-a1(I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domain.
1991-01-01 Valli, Maurizia; M., Mottes; Tenni, Ruggero; A., Sangalli; M., Gomez Lyra; Rossi, Antonio; F., Antoniazzi; Cetta, Giuseppe; P. F., Pignatti
Mild dominant osteogenesis imperfecta with intrafamilial variability: the cause is a serine for glycine a1(I) 901 substitution in a type-I collagen gene.
1992-01-01 M., Mottes; A., Sangalli; Valli, Maurizia; M., Gomez Lyra; Tenni, Ruggero; P., Buttitta; P. F., Pignatti; Cetta, Giuseppe
Gly85 to Val substitution in proa1(I) chain causes mild osteogenesis imperfecta and introduces a susceptibility to protease digestion.
1993-01-01 Valli, Maurizia; F., Zolezzi; M., Mottes; F., Antoniazzi; F., Stanzial; Tenni, Ruggero; P. F., Pignatti; Cetta, Giuseppe
Possible role of overglycosylation in the type I collagen triple helical domain in the molecular pathogenesis of osteogenesis imperfecta.
1993-01-01 Tenni, Ruggero; Valli, Maurizia; Rossi, Antonio; Cetta, Giuseppe
Deposition of mutant type I collagen in the extracellular matrix of cultured dermal fibroblasts in osteogenesis imperfecta.
1993-01-01 Cetta, Giuseppe; Rossi, Antonio; Tenni, Ruggero; Valli, Maurizia; Forlino, Antonella; Zanaboni, Giuseppe; Dyne, KATHARINE MARY; R., Burgio
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta.
1993-01-01 Mottes, M; Gomez Lira, Mm; Valli, Maurizia; Scarano, G; Lonardo, F; Forlino, Antonella; Cetta, Giuseppe; Pignatti, Pf
Extracellular matrix deposition in cultured dermal fibroblasts from four probands affected by osteogenesis imperfecta.
1993-01-01 Valli, Maurizia; Rossi, Antonio; Forlino, Antonella; Tenni, Ruggero; Cetta, Giuseppe
Osteogenesis imperfecta and type I collagen mutations. A lethal variant caused by a Gly910->Ala substitution in the a1(I) chain.
1993-01-01 Valli, Maurizia; A., Sangalli; Rossi, Antonio; M., Mottes; Forlino, Antonella; Tenni, Ruggero; P. F., Pignatti; Cetta, Giuseppe
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.
1994-01-01 Mottes, M; Sangalli, A; Valli, Maurizia; Forlino, Antonella; Gomez Lira, M; Antoniazzi, F; Constantinou Deltas, Cd; Cetta, Giuseppe; Pignatti, Pf
Prolidase deficiency: biochemical study of erythrocyte and skin fibroblast prolidase activity in Italian patients.
1994-01-01 Zanaboni, G; Dyne, Km; Rossi, Antonio; Monafo, V; Cetta, Giuseppe
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