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A novel mutation in the sulphate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. 1-gen-2008 Bonafé, L; Hastbacka, J; de la Chapelle, A; Campos Xavier, Ab; Chiesa, C; Forlino, Antonella; Superti Furga, A; Rossi, Antonio
Glycosaminoglycans show a specific periodic interaction with type I collagen fibrils. 1-gen-2008 Raspanti, Mario; Viola, Manuela; Forlino, Antonella; Tenni, Ruggero; Gruppi, Cristian; Tira, MARIA ENRICA
Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. 1-gen-2008 Uveges Thomas, E; Collin Osdoby, Patricia; Cabral Wayne, A; Ledgard, Felicia; Goldberg, Leah; Bergwitz, Clemens; Forlino, Antonella; Osdoby, Philip; Gronowicz Gloria, A; Marini Joan, C.
Decorin transfection induces proteomic and phenotypic modulation in breast cancer cells 8701-BC. 1-gen-2008 Pucci Minafra, Ida; Cancemi, Patrizia; Di Cara, Gianluca; Minafra, Luigi; Feo, Salvatore; Forlino, Antonella; Tira, MARIA ENRICA; Tenni, Ruggero; Martini, Desiree; Ruggeri, Alessandro; Minafra, Salvatore
Human prolidase and prolidase deficiency: an overview on the characterization of the enzyme involved in proline recycling and on the effects of its mutations 1-gen-2008 Lupi, ANNA LISA; Tenni, Ruggero; Rossi, Antonio; Cetta, Giuseppe; Forlino, Antonella
Candidate cell and matrix interaction domains on the collagen fibril, the predominant protein of vertebrates. 1-gen-2008 Sweeney Shwan, M; Orgel Joseph, P; Fertala, Andrzej; McAuliffe Jon, D; Turner Kevin, R; Di Lullo Gloria, A; Chen, Steven; Antipova, Olga; Perumal, Shiamalee; Ala Kokko, Leena; Forlino, Antonella; Cabral Wayne, A; Barnes, Aileenm; Marini Joan, C; San Antonio James, D.
In utero transplantation of adult bone marrow decreases perinatal lethality and rescues the bone phenotype in the knock-in murine model for classical, dominant osteogenesis imperfecta 1-gen-2009 Panaroni, C; Gioia, R; Lupi, A; Besio, R; Goldstein, S A; Kreider, J; Leikin, S; Vera, J C; Mertz, E L; Perilli, E; Baruffaldi, F; Villa, Ilaria; Farina, A; Casasco, M; Cetta, G; Rossi, A; Frattini, A; Marini, J C; Vezzoni, P; Forlino, A
Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling 1-gen-2010 Gualeni, Benedetta; Facchini, Marcella; DE LEONARDIS, Fabio; Tenni, Ruggero; Cetta, Giuseppe; Viola, Manuela; Passi, Alberto; Superti Furga, Andrea; Forlino, Antonella; Rossi, Antonio
Current and emerging treatments for the management of osteogenesis imperfecta. 1-gen-2010 Monti, Elena; Mottes, Monica; Fraschini, Paolo; Brunelli, Piercarlo; Forlino, Antonella; Venturi, Giacomo; Doro, Francesco; Perlini, Silvia; Cavarzere, Paolo; Antoniazzi, Franco
Identifying the structure of the active sites of human recombinant prolidase 1-gen-2010 Besio, R; Alleva, S; Forlino, A; Lupi, A; Meneghini, C; Miniozzi, V; Profumo, A; Stellato, Francesco; Tenni, R; Morante, S
Prolidase deficiency may be reversed by hematopietic stem cell transplantation: CE analysis of dipeptides in urine and monitoring of prolidase activity in blood. 1-gen-2011 Colombo, Raffaella; Bertoletti, Laura; Forlino, Antonella; Besio, Roberta; DE LORENZI, Ersilia
New perspectives on osteogenesis imperfecta. 1-gen-2011 Forlino, Antonella; Cabral, Wa; Barnes, Am; Marini, Jc
Improved prolidase activity assay allowed enzyme kinetic characterization and faster prolidase deficiency diagnosis 1-gen-2011 Besio, R; Monzani, E; Gioia, R; Nicolis, S; Rossi, A; Casella, L; Forlino, A
XX males SRY negative: a confirmed cause of infertility 1-gen-2011 Vetro, Annalisa; Ciccone, Roberto; Giorda, R; Patricelli Maria, Grazia; DELLA MINA, Erika; Forlino, Antonella; Zuffardi, Orsetta
Partial rescue of biochemical parameters after hematopoietic stem cell transplantation in a patient with prolidase deficiency due to two novel PEPD mutations 1-gen-2012 Caselli, Désirée; Cimaz, Rolando; Besio, Roberta; Rossi, Antonio; DE LORENZI, Ersilia; Colombo, Raffaella; Cantarini, Luca; Riva, Silvia; Spada, Marco; Forlino, Antonella; Aricò, Maurizio
Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach 1-gen-2012 Bianchi, L; Gagliardi, A; Gioia, R; Besio, Roberta; Tani, C; Landi, C; Cipriano, M; Gimigliano, A; Rossi, A; Marini, Jc; Forlino, A; Bini, L
Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. 1-gen-2012 Nizon, M; Huber, C; DE LEONARDIS, Fabio; Merrina, R; Forlino, Antonella; Fradin, M; Tuysuz, B; Abu Libdeh, By; Alanay, Y; Albrecht, B; Al Gazali, L; Basaran, Sy; Clayton Smith, J; Désir, J; Gill, H; Greally, Mt; Koparir, E; van Maarle, Mc; Mackay, S; Mortier, G; Morton, J; Sillence, D; Vilain, C; Young, I; Zerres, K; Le Merrer, M; Munnich, A; Le Goff, C; Rossi, Antonio; Cormier Daire, V.
Matrix disruptions, growth, and degradation of cartilage with impaired sulfation. 1-gen-2012 Mertz, El; Facchini, M; Pham, At; Gualeni, Benedetta; DE LEONARDIS, Fabio; Rossi, Antonio; Forlino, Antonella
Impaired osteoblastogenesis in a murine model of dominant osteogenesis imperfecta: a new target for osteogenesis imperfecta pharmacological therapy 1-gen-2012 Gioia, R; Panaroni, C; Besio, R; Palladini, G; Merlini, G; Giansanti, V; Scovassi, Ia; Villani, S; Villa, I; Villa, A; Vezzoni, P; Tenni, R; Rossi, A; Marini, Jc; Forlino, A
Replenishing cartilage from endogenous stem cells. 1-gen-2012 Marini, Jc; Forlino, Antonella
Mostrati risultati da 41 a 60 di 117
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