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Pubblicazioni - Prof. Silvio GAROFALO


Pubblicazioni presenti sul Catalogo Istituzionale

Elenco delle pubblicazioni

Tavella S, Biticchi R, Schito A, Minima E, Pagano A, Di Martino D, Vortkamp A, Horton WA, Cancedda R, Garofalo S. Targeted expression of SHH affects chondrocyte differentiation, growth plate organization and sox9 expression. J. Bone Min. Res. 19, 1678-1688, 2004.          

·         Barbieri O, Astigiano S, Morini M, Tavella S, Schito A, Corsi A, Martino DD, Bianco P, Cancedda R, Garofalo S. Depletion of cartilage collagen fibrils in mice carrying a dominant negative Col2a1 transgene affects chondrocyte differentiation. Am. J. Physiol. Cell. Physiol. 285, 1504-1512, 2003.

·         Kelly G. Gaiser, B. Kerry Maddox, James G. Bann, Bruce A. Boswell, Douglas R. Keene, Silvio Garofalo and William A. Horton. Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of SED. J. Bone Min. Res. 17, 39-47, 2002.

·         Garofalo, S, Horton, WA. Genetic-engineered models of skeletal diseases II. Targeting mutations into transgenic mice chondrocytes. Methods Mol Biol. 137, 491-498, 2000.

·         S. Garofalo, M. Kliger-Spatz, J.L. Cooke, O. Wolstin, G.L. Lunstrum, S.M. Moshkovitz, W.A. Horton, and A. Avner Yayon. Skeletal dysplasia and defective chondrocyte differentiation by targeted over-expression of fibroblast growth factor 9 in transgenic mice. J. Bone Min. Res. 14, 1909-1915, 1999.

·         B.K. Maddox, S Garofalo, W.A. Horton, M. Richardson, and D. Trune. Craniofacial and otic capsule abnormalities in a transgenic mouse strain with a col2a1 mutation. J. Craniofacial Genetics 18, 195-201, 1998.

·         B.K. Maddox, S. Garofalo, D.R. Keene, C. Smith and W.A. Horton. Type II collagen pro-alpha-chains containing a Gly574Ser mutation are not incorporated into the cartilage matrix of transgenic mice. Matrix Biology 16(3): 93-103, 1997.

·         W-C. S. Su, M. Kitagawa, N.Xue, B. Xie, S. Garofalo, J. Cho, C. Deng, W.A. Horton, X-Y. Fu. STAT activation by mutant FGFR3 responsible for a lethal form of dwarfism, thanatophoric dysplasia type II. Nature 386(6622), 288-292, 1997.

·         B.K. Maddox, S. Garofalo, D.R. Keene, C. Smith and W.A. Horton: Skeletal Development in Transgenic Mice Expressing a Mutation at Gly574Ser of Type II Collagen. Dev. Dyn. 208(2), 170-177, 1997.

·         G. Zhou, S. Garofalo, K. Mukhopadhyay, V. Lefebvre, C. Smith, H. Eberspaecher and B. de Crombrugghe: A 182 bp fragment of the mouse pro-a1(II) collagen gene is sufficient to direct chondrocyte-specific expression in transgenic mice. J. Cell Science. 108, 3677-3684, 1995.

·         K. Mukhopadhyay, V. Lefebvre, G. Zhou, S. Garofalo, J. H. Kimura and B. de Crombrugghe: Use of a New Rat Chondrosarcoma Cell line to Delineate a 119-Base Pair Chondrocyte-specific Enhancer Element and to Define Active Promoter Segments in the Mouse Pro-1 a(II) Collagen Gene. J. Biol. Chem. 270 (46), 27711-27719, 1995.

·         M. Metsaranta, S. Garofalo, C. Smith, K. Niederreither, B. de Crombrugghe and E. Vuorio: Developmental expression of type II collagen/b-galactosidase fusion gene in transgenic mice. Dev. Dyn. 204, 202-210, 1995.          

·         B. de Crombrugghe, P. Katzenstein, K. Mukhopadhyay, V. Lefrebvre, G. Zhou, S. Garofalo, M. Metsaranta, R. Rosati and E. Vuorio: Transgenic mice with deficiencies in cartilage collagens: possible models for gene therapy. J. Reumathology 22, 1(suppl), 1995.

·         V. Lefebrve, S. Garofalo and B. de Crombrugghe. Type X collagen gene expression in mouse chondrocytes immortalized by a temperature-sensitive simian virus 40 large  tumor antigen. J. Cell Biology 128, 239-245, 1995.

·         R. Rosati, G.S.B. Horan, G.J. Pinero, S. Garofalo, D.R. Keene, W.A. Horton, E. Vuorio, B. de Crombrugghe and R. Behringer. Normal long bone growth and development in type X collagen-null mice. Nature Genetics 8, 129-135, 1994.

·         V. Lefebvre, S. Garofalo, G. Zhou, M. Metsaranta, E. Vuorio and B. de Crombrugghe. Characterization of primary chondrocytes from type II collagen/b-galactosidase transgenic mice. Matrix Biology 14, 329-335, 1994.

·         M. Rintala, M. Metsaranta, S. Garofalo, B. de Crombrugghe, E. Vuorio and O. Ronning: Abnormal  craniofacial  morphology and  cartilage  structure in transgenic mice  harboring a gly->cys mutation in the catilage specific type II collagen gene. J. Craniofacial Genetics 13, 133-146, 1993.

·         S. Garofalo, M. Metsaranta J. Ellard, C. Smith, E. Horton, E. Vuorio and B. de Crombrugghe. Assembly of cartilage collagen fibrils is disrupted by overexpression of normal type II collagen in transgenic mice. Proc. Nat. Acad. of Science USA 90, 3825-3829, 1993

·         K. Elima, I. Eerola, R. Rosati, M. Metsaranta, S. Garofalo, M. Perale, B. de Crombrugghe and E. Vuorio. The mouse type X collagen gene: complete nucleotide sequence, exon structure and expression pattern. Biochem. J. 289, 247-253, 1993.

·         K. Elima, M. Metsaranta, J. Kallio, M. Perala, I. Eerola, S. Garofalo, B. de Crombrugghe and E. Vuorio: Specific hybridization probes for mouse alpha2(IX) and alpha1(X) collagen mRNAs.  Bioch Bioph Acta 1130,78-80, 1992.

·         M. Metsaranta, S. Garofalo, G. Decker, M. Rintala, B. De Crombrugghe and E. Vuorio: Chondrodysplasia in transgenic mice harboring a 15 amino acid deletion in the triple helical domain of pro-a1(II) collagen chain. J. Cell. Biol. 118(1), 203-212, 1992.

·         S. Garofalo, E. Vuorio, M. Metsaranta, R. Rosati, D. Toman, J. Vaughan, G. Lozano, R. Mayne, J. Ellard, W. Horton and B. de Crombrugghe: Reduced amounts of cartilage collagen fibrils and growth plate anomalies in transgenic mice harboring a glycine to cysteine mutation in the mouse pro-a1(II) collagen gene.  Proc. Nat. Acad. of Science USA 88, 9648-52, 1991.

·         M. I. Bonapace, M. Sanchez, R. Gentile, S. Obici, S. Garofalo, A. Gallo, S. Cocozza and V.E. Avvedimento: Exstintion and activation of thyroglobulin promoter in hybrids between differentiated and transformed thyroid cells. Mol. Cell. Biol. 10, 1033-1040, 1990.

·         A. Monticelli, S. Cocozza, S. Garofalo, A. Pellegrino, L. Pianese and S. Varrone: Insulin gene polymorphism and type 2 diabetes. Horizons in Endicronology 52, 97-107, 1988.

·         A. Pellegrino, S. Garofalo, S. Cocozza, A. Monticelli, R. Faraonio, S. Varrone and V. Colantuoni: Taq I RFLP in the Human Cellular Retinol-Binding Protein (CRBP) gene. Nucleic Acids Res. 16, 7758, 1988.

·         S. Cocozza, S. Garofalo, R. Robledo, A. Monticelli, A. Conti, L. Chiarotti, R. Frunzio, C.B. Bruni and S. Varrone: Eco RI RFLP in the Human IGF II gene. Nucleic Acids Res. 16, 2737, 1988.