1 - 25 of 34 results for author:"Salvatore F." in Literature citations
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| Protein cross-talk in CD133+ colon cancer cells indicates activation of the Wnt pathway and upregulation of SRp20 that is potentially involved in tumorigenicity. Corbo C., Orru S., Gemei M., Noto R.D., Mirabelli P., Imperlini E., Ruoppolo M., Vecchio L.D., Salvatore F. Proteomics 12:2045-2059(2012) · Mapped (7) |
| Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase. Esposito G., De Falco F., Tinto N., Testa F., Vitagliano L., Tandurella I.C., Iannone L., Rossi S., Rinaldi E., Simonelli F. et al. Hum. Mutat. 32:1460-1469(2011) · UniProtKB (1) |
| Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit. Pirone A., Schredelseker J., Tuluc P., Gravino E., Fortunato G., Flucher B.E., Carsana A., Salvatore F., Grabner M. Am. J. Physiol., Cell Physiol. 299:C1345-54(2010) · Mapped (4) |
| Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion. Esposito G., Imperato M.R., Ieno L., Sorvillo R., Benigno V., Parenti G., Parini R., Vitagliano L., Zagari A., Salvatore F. Hum. Mutat. 31:1294-1303(2010) · Mapped (3) |
| Genetic modifiers of liver disease in cystic fibrosis. Bartlett J.R., Friedman K.J., Ling S.C., Pace R.G., Bell S.C., Bourke B., Castaldo G., Castellani C., Cipolli M., Colombo C. et al. JAMA 302:1076-1083(2009) · Mapped (23) |
| Autosomal recessive congenital ichthyosis and congenital hypothyroidism in a Tunisian patient with a nonsense mutation in TGM1. Esposito G., De Falco F., Brazzelli V., Montanari L., Larizza D., Salvatore F. J. Dermatol. Sci. 55:128-130(2009) · Mapped (7) |
| Early pregnancy loss in celiac women: The role of genetic markers of thrombophilia. Ciacci C., Tortora R., Scudiero O., Di Fiore R., Salvatore F., Castaldo G. Dig Liver Dis 41:717-720(2009) · Mapped (40) |
| Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy. Daniele A., Scala I., Cardillo G., Pennino C., Ungaro C., Sibilio M., Parenti G., Esposito L., Zagari A., Andria G. et al. FEBS J. 276:2048-2059(2009) · Mapped (6) |
| Functional characterization of ryanodine receptor (RYR1) sequence variants using a metabolic assay in immortalized B-lymphocytes. Zullo A., Klingler W., De Sarno C., Ferrara M., Fortunato G., Perrotta G., Gravino E., Di Noto R., Lehmann-Horn F., Melzer W. et al. Hum. Mutat. 30:E575-90(2009) · Mapped (6) |
| Five human phenylalanine hydroxylase proteins identified in mild hyperphenylalaninemia patients are disease-causing variants. Daniele A., Cardillo G., Pennino C., Carbone M.T., Scognamiglio D., Esposito L., Correra A., Castaldo G., Zagari A., Salvatore F. Biochim. Biophys. Acta 1782:378-384(2008) · Mapped (6) |
| Decreased paraoxonase-2 expression in human carotids during the progression of atherosclerosis. Fortunato G., Di Taranto M.D., Bracale U.M., Del Guercio L., Carbone F., Mazzaccara C., Morgante A., D'Armiento F.P., D'Armiento M., Porcellini M. et al. Arterioscler. Thromb. Vasc. Biol. 28:594-600(2008) · Mapped (9) |
| Characterization of red cell membrane proteins as a function of red cell density: annexin VII in different forms of hereditary spherocytosis. Caterino M., Ruoppolo M., Orru S., Savoia M., Perrotta S., Del Vecchio L., Salvatore F., Stewart G.W., Iolascon A. FEBS Lett. 580:6527-6532(2006) · Mapped (7) |
| Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations. Daniele A., Cardillo G., Pennino C., Carbone M.T., Scognamiglio D., Correra A., Pignero A., Castaldo G., Salvatore F. Ann. Hum. Genet. 71:185-193(2007) · Mapped (6) |
| Distribution of human beta-defensin polymorphisms in various control and cystic fibrosis populations. Vankeerberghen A., Scudiero O., De Boeck K., Macek M. Jr., Pignatti P.F., Van Hul N., Nuytten H., Salvatore F., Castaldo G., Zemkova D. et al. Genomics 85:574-581(2005) · Mapped (5) |
| Comprehensive cystic fibrosis mutation epidemiology and haplotype characterization in a southern Italian population. Castaldo G., Polizzi A., Tomaiuolo R., Cazeneuve C., Girodon E., Santostasi T., Salvatore D., Raia V., Rigillo N., Goossens M. et al. Ann. Hum. Genet. 69:15-24(2005) · Mapped (45) |
| Phenotypic expression of genotype-phenotype correlation in cystic fibrosis patients carrying the 852del22 mutation. Polizzi A., Francavilla R., Castaldo G., Santostasi T., Tomaiuolo R., Manca A., De Robertis F., Mappa L., Oliverio F.P., Salvatore F. et al. Am. J. Med. Genet. A 132:434-440(2005) · Mapped (45) |
| Diverse human aldolase C gene promoter regions are required to direct specific LacZ expression in the hippocampus and Purkinje cells of transgenic mice. Buono P., Barbieri O., Alfieri A., Rosica A., Astigiano S., Cantatore D., Mancini A., Fattoruso O., Salvatore F. FEBS Lett. 578:337-344(2004) · Mapped (8) |
| Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. Esposito G., Santamaria R., Vitagliano L., Ieno L., Viola A., Fiori L., Parenti G., Zancan L., Zagari A., Salvatore F. |
| AKT participates in endothelial dysfunction in hypertension. Iaccarino G., Ciccarelli M., Sorriento D., Cipolletta E., Cerullo V., Iovino G.L., Paudice A., Elia A., Santulli G., Campanile A. et al. Circulation 109:2587-2593(2004) · Mapped (5) |
| Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. Esposito G., Vitagliano L., Costanzo P., Borrelli L., Barone R., Pavone L., Izzo P., Zagari A., Salvatore F. Biochem. J. 380:51-56(2004) · UniProtKB (1) |
| Identification of new polymorphisms in the CACNA1S gene. Carsana A., Fortunato G., De Sarno C., Brancadoro V., Salvatore F. Clin. Chem. Lab. Med. 41:20-22(2003) · Mapped (4) |
| A paraoxonase gene polymorphism, PON 1 (55), as an independent risk factor for increased carotid intima-media thickness in middle-aged women. Fortunato G., Rubba P., Panico S., Trono D., Tinto N., Mazzaccara C., De Michele M., Iannuzzi A., Vitale D.F., Salvatore F. et al. Atherosclerosis 167:141-148(2003) · Mapped (3) |
| Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance. Esposito G., Vitagliano L., Santamaria R., Viola A., Zagari A., Salvatore F. FEBS Lett. 531:152-156(2002) · Mapped (3) |
| Novel deletion at the M and P promoters of the human dystrophin gene associated with a Duchenne muscular dystrophy. Frisso G., Sampaolo S., Pastore L., Carlomagno A., Calise R.M., Di Iorio G., Salvatore F. Neuromuscul. Disord. 12:494-497(2002) · Mapped (69) |
| Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. Santamaria R., Esposito G., Vitagliano L., Race V., Paglionico I., Zancan L., Zagari A., Salvatore F. Biochem. J. 350:823-828(2000) · UniProtKB (1) |