Search Results - "Sudano, D"

Adiponectin increases glucose-induced insulin secretion through the activation of lipid oxidation by Patané, G., Caporarello, N., Marchetti, P., Parrino, C., Sudano, D., Marselli, L., Vigneri, R., Frittitta, L.

“…The expression of adiponectin receptors has been demonstrated in human and rat pancreatic beta cells, where globular (g) adiponectin rescues rat beta cells…”
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Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance by Lampe, A.K, Zou, Y, Sudano, D, O'Brien, K.K, Hicks, D, Laval, S.H, Charlton, R, Jimenez-Mallebrera, C, Zhang, R.-Z, Finkel, R.S, Tennekoon, G, Schreiber, G, van der Knaap, M.S, Marks, H, Straub, V, Flanigan, K.M, Chu, M.-L, Muntoni, F, Bushby, K.M.D, Bönnemann, C.G

“…Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two…”
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Comparative analysis of gene-expression patterns in human and African great ape cultured fibroblasts by Karaman, Mazen W, Houck, Marlys L, Chemnick, Leona G, Nagpal, Shailender, Chawannakul, Daniel, Sudano, Dominick, Pike, Brian L, Ho, Vincent V, Ryder, Oliver A, Hacia, Joseph G

“…Although much is known about genetic variation in human and African great ape (chimpanzee, bonobo, and gorilla) genomes, substantially less is known about…”
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P.P.7 07 Identification and characterization of a novel putative secretory protein highly upregulated in dermal fibroblasts from patients with collagen VI deficiency by Magold, A.I., Kirschner, J., Zou, Y., Sudano, D., Roma, J., Bönnemann, C.G.

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P.P.7 02 Effect on collagen VI extra-cellular assembly of COL6A1 and COL6A2 C-terminal mutations in Ullrich congenital muscular dystrophy by Sabatelli, P., Zou, Y., Squarzoni, S., Bönnemann, C., Merlini, L., Pepe, G., Giusti, B., Petrini, S., Bertini, E., Sudano, D., Chu, M.L., Maraldi, N.M.

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New Molecular Mechanism for Ullrich Congenital Muscular Dystrophy: A Heterozygous In-Frame Deletion in the COL6A1 Gene Causes a Severe Phenotype by Pan, Te-Cheng, Zhang, Rui-Zhu, Sudano, Dominick G., Marie, Suely K., Bönnemann, Carsten G., Chu, Mon-Li

“…Recessive mutations in two of the three collagen VI genes, COL6A2 and COL6A3, have recently been shown to cause Ullrich congenital muscular dystrophy (UCMD), a…”
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Oligonucleotide microarray based detection of repetitive sequence changes by Hacia, Joseph G., Edgemon, Keith, Fang, Nicole, Mayer, R. Aeryn, Sudano, Dominick, Hunt, Nathaniel, Collins, Francis S.

“…Prior studies of oligonucleotide microarray‐based mutational analysis have demonstrated excellent sensitivity and specificity except in circumstances where a…”
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