1 - 25 of 27 results for author:"Barbetti F." in Literature citations
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| Permanent diabetes during the first year of life: multiple gene screening in 54 patients. Russo L., Iafusco D., Brescianini S., Nocerino V., Bizzarri C., Toni S., Cerutti F., Monciotti C., Pesavento R., Iughetti L. et al. Diabetologia 54:1693-1701(2011) · Mapped (12) |
| Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management. Loechner K.J., Akrouh A., Kurata H.T., Dionisi-Vici C., Maiorana A., Pizzoferro M., Rufini V., de Ville de Goyet J., Colombo C., Barbetti F. et al. Diabetes 60:209-217(2011) · Mapped (3) |
| Mutant INS-gene induced diabetes of youth: proinsulin cysteine residues impose dominant-negative inhibition on wild-type proinsulin transport. Liu M., Haataja L., Wright J., Wickramasinghe N.P., Hua Q.X., Phillips N.F., Barbetti F., Weiss M.A., Arvan P. PLoS ONE 5:e13333-e13333(2010) · Mapped (7) |
| TRIB3 R84 variant affects glucose homeostasis by altering the interplay between insulin sensitivity and secretion. Prudente S., Baratta R., Andreozzi F., Morini E., Farina M.G., Nigro A., Copetti M., Pellegrini F., Succurro E., Di Pietrantonio L. et al. Diabetologia 53:1354-1361(2010) · Mapped (2) |
| Further evidence that mutations in INS can be a rare cause of Maturity-Onset Diabetes of the Young (MODY). Boesgaard T.W., Pruhova S., Andersson E.A., Cinek O., Obermannova B., Lauenborg J., Damm P., Bergholdt R., Pociot F., Pisinger C. et al. |
| Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene. Barbetti F., Cobo-Vuilleumier N., Dionisi-Vici C., Toni S., Ciampalini P., Massa O., Rodriguez-Bada P., Colombo C., Lenzi L., Garcia-Gimeno M.A. et al. Mol. Endocrinol. 23:1983-1989(2009) · Mapped (3) |
| Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families. Lorini R., Klersy C., d'Annunzio G., Massa O., Minuto N., Iafusco D., Bellanne-Chantelot C., Frongia A.P., Toni S., Meschi F. et al. Diabetes Care 32:1864-1866(2009) · Mapped (20) |
| Mutations in IAPP and NEUROG3 genes are not a common cause of permanent neonatal/infancy/childhood-onset diabetes. Nocerino V., Colombo C., Bonfanti R., Iafusco D., Barbetti F. Diabet. Med. 26:660-661(2009) · Mapped (3) |
| Sulfonylurea treatment in a girl with neonatal diabetes (KCNJ11 R201H) and celiac disease: impact of low compliance to the gluten free diet. Delvecchio M., Zecchino C., Faienza M.F., Acquafredda A., Barbetti F., Cavallo L. Diabetes Res. Clin. Pract. 84:332-334(2009) · Mapped (3) |
| Insulin gene mutations as cause of diabetes in children negative for five type 1 diabetes autoantibodies. Bonfanti R., Colombo C., Nocerino V., Massa O., Lampasona V., Iafusco D., Viscardi M., Chiumello G., Meschi F., Barbetti F. Diabetes Care 32:123-125(2009) · Mapped (3) |
| Role of the ENPP1 K121Q polymorphism in glucose homeostasis. Baratta R., Rossetti P., Prudente S., Barbetti F., Sudano D., Nigro A., Farina M.G., Pellegrini F., Trischitta V., Frittitta L. Diabetes 57:3360-3364(2008) · Mapped (4) |
| Seven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus. Colombo C., Porzio O., Liu M., Massa O., Vasta M., Salardi S., Beccaria L., Monciotti C., Toni S., Pedersen O. et al. J. Clin. Invest. 118:2148-2156(2008) · Mapped (4) |
| The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy. Koster J.C., Cadario F., Peruzzi C., Colombo C., Nichols C.G., Barbetti F. J. Clin. Endocrinol. Metab. 93:1054-1061(2008) · Mapped (3) |
| Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Porzio O., Massa O., Cunsolo V., Colombo C., Malaponti M., Bertuzzi F., Hansen T., Johansen A., Pedersen O., Meschi F. et al. |
| An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes. Masia R., Koster J.C., Tumini S., Chiarelli F., Colombo C., Nichols C.G., Barbetti F. Diabetes 56:328-336(2007) · Mapped (3) |
| Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects. Shimomura K., Girard C.A.J., Proks P., Nazim J., Lippiat J.D., Cerutti F., Lorini R., Ellard S., Hattersely A.T., Barbetti F. et al. Diabetes 55:1705-1712(2006) · UniProtKB (1) |
| Search for genetic variants in the p66Shc longevity gene by PCR-single strand conformational polymorphism in patients with early-onset cardiovascular disease. Sentinelli F., Romeo S., Barbetti F., Berni A., Filippi E., Fanelli M., Fallarino M., Baroni M.G. BMC Genet. 7:14-14(2006) · Mapped (10) |
| Lack of the architectural factor HMGA1 causes insulin resistance and diabetes in humans and mice. Foti D., Chiefari E., Fedele M., Iuliano R., Brunetti L., Paonessa F., Manfioletti G., Barbetti F., Brunetti A., Croce C.M. et al. Nat. Med. 11:765-773(2005) · Mapped (4) |
| Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young. Gloyn A.L., Odili S., Zelent D., Buettger C., Castleden H.A., Steele A.M., Stride A., Shiota C., Magnuson M.A., Lorini R. et al. J. Biol. Chem. 280:14105-14113(2005) · Mapped (3) |
| KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. The early onset diabetes study group of the Italian society of pediatric endocrinology and diabetes |
| Role of transglutaminase 2 in glucose tolerance: knockout mice studies and a putative mutation in a MODY patient. Bernassola F., Federici M., Corazzari M., Terrinoni A., Hribal M.L., De Laurenzi V., Ranalli M., Massa O., Sesti G., McLean W.H. et al. FASEB J. 16:1371-1378(2002) · Mapped (12) |
| Neonatal diabetes mellitus due to complete glucokinase deficiency. Njoelstad P.R., Soevik O., Cuesta-Munoz A., Bjoerkhaug L., Massa O., Barbetti F., Undlien D.E., Shiota C., Magnuson M.A., Molven A. et al. N. Engl. J. Med. 344:1588-1592(2001) · UniProtKB (1) · Mapped (4) |
| Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Guazzini B., Gaffi D., Mainieri D., Multari G., Cordera R., Bertolini S., Pozza G., Meschi F., Barbetti F. Hum. Mutat. 12:136-136(1998) · UniProtKB (1) |
| The human skeletal muscle glycogenin gene: cDNA, tissue expression and chromosomal localization. Barbetti F., Rocchi M., Bossolasco M., Cordera R., Sbraccia P., Finelli P., Consalez G.G. Biochem. Biophys. Res. Commun. 220:72-77(1996) · UniProtKB (1) · Mapped (2) |
| Substitution of Leu for Pro-193 in the insulin receptor in a patient with a genetic form of severe insulin resistance. Carrera P., Cordera R., Ferrari M., Cremonesi L., Taramelli R., Andraghetti G., Carducci C., Dozio N., Pozza G., Taylor S.I. et al. Hum. Mol. Genet. 2:1437-1441(1993) · UniProtKB (1) |