20 results for author:"Forlino A." in Literature citations
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| Matrix disruptions, growth, and degradation of cartilage with impaired sulfation. Mertz E.L., Facchini M., Pham A.T., Gualeni B., De Leonardis F., Rossi A., Forlino A. J. Biol. Chem. 287:22030-22042(2012) · Mapped (2) |
| Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis. Nizon M., Huber C., De Leonardis F., Merrina R., Forlino A., Fradin M., Tuysuz B., Abu-Libdeh B.Y., Alanay Y., Albrecht B. et al. |
| Defective proteoglycan sulfation of the growth plate zones causes reduced chondrocyte proliferation via an altered Indian hedgehog signalling. Gualeni B., Facchini M., De Leonardis F., Tenni R., Cetta G., Viola M., Passi A., Superti-Furga A., Forlino A., Rossi A. Matrix Biol. 29:453-460(2010) · Mapped (4) |
| 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) |
| A novel mutation in the sulfate transporter gene SLC26A2 (DTDST) specific to the Finnish population causes de la Chapelle dysplasia. Bonafe L., Hastbacka J., de la Chapelle A., Campos-Xavier A.B., Chiesa C., Forlino A., Superti-Furga A., Rossi A. J. Med. Genet. 45:827-831(2008) · Mapped (3) |
| Cellular mechanism of decreased bone in Brtl mouse model of OI: imbalance of decreased osteoblast function and increased osteoclasts and their precursors. Uveges T.E., Collin-Osdoby P., Cabral W.A., Ledgard F., Goldberg L., Bergwitz C., Forlino A., Osdoby P., Gronowicz G.A., Marini J.C. J. Bone Miner. Res. 23:1983-1994(2008) · Mapped (3) |
| Selective retention and degradation of molecules with a single mutant alpha1(I) chain in the Brtl IV mouse model of OI. Forlino A., Kuznetsova N.V., Marini J.C., Leikin S. Matrix Biol. 26:604-614(2007) · Mapped (22) |
| Systemic lupus erythematosus-like disease in a 6-year-old boy with prolidase deficiency. Di Rocco M., Fantasia A.R., Taro M., Loy A., Forlino A., Martini A. J. Inherit. Metab. Dis. 30:814-814(2007) · Mapped (2) |
| HEM dysplasia and ichthyosis are likely laminopathies and not due to 3beta-hydroxysterol Delta14-reductase deficiency. Wassif C.A., Brownson K.E., Sterner A.L., Forlino A., Zerfas P.M., Wilson W.K., Starost M.F., Porter F.D. Hum. Mol. Genet. 16:1176-1187(2007) · Mapped (12) |
| Insights from a transgenic mouse model on the role of SLC26A2 in health and disease. Forlino A., Gualeni B., Pecora F., Torre S.D., Piazza R., Tiveron C., Tatangelo L., Superti-Furga A., Cetta G., Rossi A. Novartis Found. Symp. 273:193-206(2006) · Mapped (2) |
| In vivo contribution of amino acid sulfur to cartilage proteoglycan sulfation. Pecora F., Gualeni B., Forlino A., Superti-Furga A., Tenni R., Cetta G., Rossi A. Biochem. J. 398:509-514(2006) · Mapped (3) |
| N-benzyloxycarbonyl-L-proline: an in vitro and in vivo inhibitor of prolidase. Lupi A., Rossi A., Vaghi P., Gallanti A., Cetta G., Forlino A. Biochim. Biophys. Acta 1744:157-163(2005) · Mapped (2) |
| A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype. Forlino A., Piazza R., Tiveron C., Della Torre S., Tatangelo L., Bonafe L., Gualeni B., Romano A., Pecora F., Superti-Furga A. et al. Hum. Mol. Genet. 14:859-871(2005) · Mapped (4) |
| Brittle IV mouse model for osteogenesis imperfecta IV demonstrates postpubertal adaptations to improve whole bone strength. Kozloff K.M., Carden A., Bergwitz C., Forlino A., Uveges T.E., Morris M.D., Marini J.C., Goldstein S.A. J. Bone Miner. Res. 19:614-622(2004) · Mapped (3) |
| Mutation analysis of five new patients affected by prolidase deficiency: the lack of enzyme activity causes necrosis-like cell death in cultured fibroblasts. Forlino A., Lupi A., Vaghi P., Icaro Cornaglia A., Calligaro A., Campari E., Cetta G. Hum. Genet. 111:314-322(2002) · UniProtKB (1) |
| Use of the Cre/lox recombination system to develop a non-lethal knock-in murine model for osteogenesis imperfecta with an alpha1(I) G349C substitution. Variability in phenotype in BrtlIV mice. Forlino A., Porter F.D., Lee E.J., Westphal H., Marini J.C. J. Biol. Chem. 274:37923-37931(1999) · Mapped (10) |
| Three novel type I collagen mutations in osteogenesis imperfecta type IV probands are associated with discrepancies between electrophoretic migration of osteoblast and fibroblast collagen. Sarafova A.P., Choi H., Forlino A., Gajko A., Cabral W.A., Tosi L., Reing C.M., Marini J.C. Hum. Mutat. 11:395-403(1998) · UniProtKB (1) |
| Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfecta. Mottes M., Gomez Lira M., Valli M., Scarano G., Lonardo F., Forlino A., Cetta G., Pignatti P.F. Hum. Mutat. 2:196-204(1993) · UniProtKB (1) |
| Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix. Forlino A., Zolezzi F., Valli M., Pignatti P.F., Cetta G., Brunelli P.C., Mottes M. Hum. Mol. Genet. 3:2201-2206(1994) · UniProtKB (2) |
| Osteogenesis imperfecta and type-I collagen mutations. A lethal variant caused by a Gly910-->Ala substitution in the alpha 1 (I) chain. Valli M., Sangalli A., Rossi A., Mottes M., Forlino A., Tenni R., Pignatti P.F., Cetta G. Eur. J. Biochem. 211:415-419(1993) · UniProtKB (1) |