PubMed

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 MA, Bermudez-Silva FJ, Rodriguez de Fonseca F, Banin P, Aledo JC, Baixeras E, Sanz P, Cuesta-Muñoz AL.

Mol Endocrinol. 2009 Dec;23(12):1983-9. Epub 2009 Nov 2.PMID: 19884385 [PubMed - in process]Related articles

Obese children with low birth weight demonstrate impaired beta-cell function during oral glucose tolerance test.

Brufani C, Grossi A, Fintini D, Tozzi A, Nocerino V, Patera PI, Ubertini G, Porzio O, Barbetti F, Cappa M.

J Clin Endocrinol Metab. 2009 Nov;94(11):4448-52. Epub 2009 Oct 9.PMID: 19820011 [PubMed - in process]Related articles

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, Bellannè-Chantelot C, Frongia AP, Toni S, Meschi F, Cerutti F, Barbetti F; Italian Society of Pediatric Endocrinology and Diabetology (ISPED) Study Group.

Diabetes Care. 2009 Oct;32(10):1864-6. Epub 2009 Jun 29.PMID: 19564454 [PubMed - in process]Related articles

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. 2009 Jun;26(6):660-1. No abstract available. PMID: 19538245 [PubMed - in process]Related articles

Glucose tolerance status in 510 children and adolescents attending an obesity clinic in Central Italy.

Brufani C, Ciampalini P, Grossi A, Fiori R, Fintini D, Tozzi A, Cappa M, Barbetti F.

Pediatr Diabetes. 2009 Apr 30. [Epub ahead of print]PMID: 19460122 [PubMed - as supplied by publisher]Related articles

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 MF, Acquafredda A, Barbetti F, Cavallo L.

Diabetes Res Clin Pract. 2009 Jun;84(3):332-4. Epub 2009 Apr 3.PMID: 19345438 [PubMed - indexed for MEDLINE]Related articles

Sexual dimorphism of body composition and insulin sensitivity across pubertal development in obese Caucasian subjects.

Brufani C, Tozzi A, Fintini D, Ciampalini P, Grossi A, Fiori R, Kiepe D, Manco M, Schiaffini R, Porzio O, Cappa M, Barbetti F.

Eur J Endocrinol. 2009 May;160(5):769-75. Epub 2009 Feb 16.PMID: 19221173 [PubMed - indexed for MEDLINE]Related articles

Cardiovascular fitness, insulin resistance and metabolic syndrome in severely obese prepubertal Italian children.

Brufani C, Grossi A, Fintini D, Fiori R, Ubertini G, Colabianchi D, Ciampalini P, Tozzi A, Barbetti F, Cappa M.

Horm Res. 2008;70(6):349-56. Epub 2008 Oct 27.PMID: 18953172 [PubMed - indexed for MEDLINE]Related articles

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. 2009 Jan;32(1):123-5. Epub 2008 Oct 7.PMID: 18840770 [PubMed - in process]Related articlesFree article

Role of the ENPP1 K121Q polymorphism in glucose homeostasis.

Baratta R, Rossetti P, Prudente S, Barbetti F, Sudano D, Nigro A, Farina MG, Pellegrini F, Trischitta V, Frittitta L.

Diabetes. 2008 Dec;57(12):3360-4. Epub 2008 Sep 5.PMID: 18776139 [PubMed - indexed for MEDLINE]Related articlesFree article

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, Hansen T, Federici L, Pesavento R, Cadario F, Federici G, Ghirri P, Arvan P, Iafusco D, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP).

J Clin Invest. 2008 Jun;118(6):2148-56.PMID: 18451997 [PubMed - indexed for MEDLINE]Related articlesFree article

The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F.

J Clin Endocrinol Metab. 2008 Mar;93(3):1054-61. Epub 2007 Dec 11.PMID: 18073297 [PubMed - indexed for MEDLINE]Related articlesFree article

Diagnosis of neonatal and infancy-onset diabetes.

Barbetti F.

Endocr Dev. 2007;11:83-93. Review.PMID: 17986829 [PubMed - indexed for MEDLINE]Related articles

Missense mutations in the TGM2 gene encoding transglutaminase 2 are found in patients with early-onset type 2 diabetes. Mutation in brief no. 982. Online.

Porzio O, Massa O, Cunsolo V, Colombo C, Malaponti M, Bertuzzi F, Hansen T, Johansen A, Pedersen O, Meschi F, Terrinoni A, Melino G, Federici M, Decarlo N, Menicagli M, Campani D, Marchetti P, Ferdaoussi M, Froguel P, Federici G, Vaxillaire M, Barbetti F.

Hum Mutat. 2007 Nov;28(11):1150.PMID: 17939176 [PubMed - indexed for MEDLINE]Related articles

An ATP-binding mutation (G334D) in KCNJ11 is associated with a sulfonylurea-insensitive form of developmental delay, epilepsy, and neonatal diabetes.

Masia R, Koster JC, Tumini S, Chiarelli F, Colombo C, Nichols CG, Barbetti F.

Diabetes. 2007 Feb;56(2):328-36.PMID: 17259376 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea treatment outweighs insulin therapy in short-term metabolic control of patients with permanent neonatal diabetes mellitus due to activating mutations of the KCNJ11 (KIR6.2) gene.

Tonini G, Bizzarri C, Bonfanti R, Vanelli M, Cerutti F, Faleschini E, Meschi F, Prisco F, Ciacco E, Cappa M, Torelli C, Cauvin V, Tumini S, Iafusco D, Barbetti F; Early-Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology.

Diabetologia. 2006 Sep;49(9):2210-3. Epub 2006 Jul 1. No abstract available. PMID: 16816952 [PubMed - indexed for MEDLINE]Related articles

Mutations at the same residue (R50) of Kir6.2 (KCNJ11) that cause neonatal diabetes produce different functional effects.

Shimomura K, Girard CA, Proks P, Nazim J, Lippiat JD, Cerutti F, Lorini R, Ellard S, Hattersley AT, Barbetti F, Ashcroft FM.

Diabetes. 2006 Jun;55(6):1705-12. Erratum in: Diabetes. 2007 Mar;56(3):897. Hattersely, Andrew T [corrected to Hattersley, Andrew T]. PMID: 16731833 [PubMed - indexed for MEDLINE]Related articlesFree article

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 MG.

BMC Genet. 2006 Mar 6;7:14.PMID: 16519809 [PubMed - indexed for MEDLINE]Related articlesFree article

Transient neonatal diabetes mellitus is associated with a recurrent (R201H) KCNJ11 (KIR6.2) mutation.

Colombo C, Delvecchio M, Zecchino C, Faienza MF, Cavallo L, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology.

Diabetologia. 2005 Nov;48(11):2439-41. Epub 2005 Oct 5. No abstract available. PMID: 16205880 [PubMed - indexed for MEDLINE]Related articles

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 CM, Fusco A, Brunetti A.

Nat Med. 2005 Jul;11(7):765-73. Epub 2005 May 29.PMID: 15924147 [PubMed - indexed for MEDLINE]Related articles

Insights into the structure and regulation of glucokinase from a novel mutation (V62M), which causes maturity-onset diabetes of the young.

Gloyn AL, Odili S, Zelent D, Buettger C, Castleden HA, Steele AM, Stride A, Shiota C, Magnuson MA, Lorini R, d'Annunzio G, Stanley CA, Kwagh J, van Schaftingen E, Veiga-da-Cunha M, Barbetti F, Dunten P, Han Y, Grimsby J, Taub R, Ellard S, Hattersley AT, Matschinsky FM.

J Biol Chem. 2005 Apr 8;280(14):14105-13. Epub 2005 Jan 25.PMID: 15677479 [PubMed - indexed for MEDLINE]Related articlesFree article

KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes.

Massa O, Iafusco D, D'Amato E, Gloyn AL, Hattersley AT, Pasquino B, Tonini G, Dammacco F, Zanette G, Meschi F, Porzio O, Bottazzo G, Crinó A, Lorini R, Cerutti F, Vanelli M, Barbetti F; Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology.

Hum Mutat. 2005 Jan;25(1):22-7.PMID: 15580558 [PubMed - indexed for MEDLINE]Related articles

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 ML, De Laurenzi V, Ranalli M, Massa O, Sesti G, McLean WH, Citro G, Barbetti F, Melino G.

FASEB J. 2002 Sep;16(11):1371-8.PMID: 12205028 [PubMed - indexed for MEDLINE]Related articlesFree article

Renal cysts and diabetes syndrome linked to mutations of the hepatocyte nuclear factor-1 beta gene: description of a new family with associated liver involvement.

Montoli A, Colussi G, Massa O, Caccia R, Rizzoni G, Civati G, Barbetti F.

Am J Kidney Dis. 2002 Aug;40(2):397-402. Review.PMID: 12148114 [PubMed - indexed for MEDLINE]Related articles

Permanent diabetes mellitus in the first year of life.

Iafusco D, Stazi MA, Cotichini R, Cotellessa M, Martinucci ME, Mazzella M, Cherubini V, Barbetti F, Martinetti M, Cerutti F, Prisco F; Early Onset Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetology.

Diabetologia. 2002 Jun;45(6):798-804. Epub 2002 May 3. Erratum in: Diabetologia. 2003 Jan;46(1):140. PMID: 12107723 [PubMed - indexed for MEDLINE]Related articles

The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

Christesen HB, Jacobsen BB, Odili S, Buettger C, Cuesta-Munoz A, Hansen T, Brusgaard K, Massa O, Magnuson MA, Shiota C, Matschinsky FM, Barbetti F.

Diabetes. 2002 Apr;51(4):1240-6.PMID: 11916951 [PubMed - indexed for MEDLINE]Related articlesFree article

The genetic abnormality in the beta cell determines the response to an oral glucose load.

Stride A, Vaxillaire M, Tuomi T, Barbetti F, Njølstad PR, Hansen T, Costa A, Conget I, Pedersen O, Søvik O, Lorini R, Groop L, Froguel P, Hattersley AT.

Diabetologia. 2002 Mar;45(3):427-35.PMID: 11914749 [PubMed - indexed for MEDLINE]Related articles

High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI. Diabetes Study Group of the Italian Society of Paediatric Endocrinology and Diabetes (SIEDP).

Massa O, Meschi F, Cuesta-Munoz A, Caumo A, Cerutti F, Toni S, Cherubini V, Guazzarotti L, Sulli N, Matschinsky FM, Lorini R, Iafusco D, Barbetti F; Italian Society of Paediatic Endocrinology and Diabetes (SIEDP).

Diabetologia. 2001 Jul;44(7):898-905.PMID: 11508276 [PubMed - indexed for MEDLINE]Related articles

Single-strand conformation polymorphism analysis of the glucose transporter gene GLUT1 in maturity-onset diabetes of the young.

Baroni MG, Sentinelli F, Massa O, Romeo S, Colombo C, Di Mario U, Barbetti F.

J Mol Med. 2001 Jun;79(5-6):270-4.PMID: 11485019 [PubMed - indexed for MEDLINE]Related articles

Neonatal diabetes mellitus due to complete glucokinase deficiency.

Njølstad PR, Søvik O, Cuesta-Muñoz A, Bjørkhaug L, Massa O, Barbetti F, Undlien DE, Shiota C, Magnuson MA, Molven A, Matschinsky FM, Bell GI.

N Engl J Med. 2001 May 24;344(21):1588-92. No abstract available. PMID: 11372010 [PubMed - indexed for MEDLINE]Related articles

MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of "neonatal diabetes"?

Prisco F, Iafusco D, Franzese A, Sulli N, Barbetti F.

Diabetologia. 2000 Oct;43(10):1331-2. No abstract available. PMID: 11079754 [PubMed - indexed for MEDLINE]Related articles

Missense mutations in the human insulin promoter factor-1 gene and their relation to maturity-onset diabetes of the young and late-onset type 2 diabetes mellitus in caucasians.

Hansen L, Urioste S, Petersen HV, Jensen JN, Eiberg H, Barbetti F, Serup P, Hansen T, Pedersen O.

J Clin Endocrinol Metab. 2000 Mar;85(3):1323-6.PMID: 10720084 [PubMed - indexed for MEDLINE]Related articlesFree article

Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

Guazzini B, Gaffi D, Mainieri D, Multari G, Cordera R, Bertolini S, Pozza G, Meschi F, Barbetti F.

Hum Mutat. 1998;12(2):136.PMID: 10694920 [PubMed - indexed for MEDLINE]Related articles

Mutational analysis of the coding regions of the genes encoding protein kinase B-alpha and -beta, phosphoinositide-dependent protein kinase-1, phosphatase targeting to glycogen, protein phosphatase inhibitor-1, and glycogenin: lessons from a search for genetic variability of the insulin-stimulated glycogen synthesis pathway of skeletal muscle in NIDDM patients.

Hansen L, Fjordvang H, Rasmussen SK, Vestergaard H, Echwald SM, Hansen T, Alessi D, Shenolikar S, Saltiel AR, Barbetti F, Pedersen O.

Diabetes. 1999 Feb;48(2):403-7.PMID: 10334321 [PubMed - indexed for MEDLINE]Related articlesFree article

Role of proline 193 in the insulin receptor post-translational processing.

Maggi D, Barbetti F, Cordera R.

Diabetologia. 1999 Apr;42(4):435-42.PMID: 10230647 [PubMed - indexed for MEDLINE]Related articles

Increased OB gene expression leads to elevated plasma leptin concentrations in patients with chronic primary hyperinsulinemia.

D'Adamo M, Buongiorno A, Maroccia E, Leonetti F, Barbetti F, Giaccari A, Zorretta D, Tamburrano G, Sbraccia P.

Diabetes. 1998 Oct;47(10):1625-9.PMID: 9753302 [PubMed - indexed for MEDLINE]Related articlesFree article

Pathophysiology of non-insulin-dependent diabetes and the search for candidate genes: dangerous liaisons?

Barbetti F.

Acta Diabetol. 1996 Dec;33(4):257-62. Review. No abstract available. PMID: 9033964 [PubMed - indexed for MEDLINE]Related articles

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 GG.

Biochem Biophys Res Commun. 1996 Mar 7;220(1):72-7.PMID: 8602861 [PubMed - indexed for MEDLINE]Related articles

Clinical and molecular evaluation of Italian patients affected by Pelizaeus-Merzbacher disease.

Terregino C, Cardona F, Barbetti F, Antonozzi I, Carducci C.

J Inherit Metab Dis. 1996;19(2):197-200. No abstract available. PMID: 8739964 [PubMed - indexed for MEDLINE]Related articles

Deletion of exon 3 of the insulin receptor gene in a kindred with a familial form of insulin resistance.

Wertheimer E, Litvin Y, Ebstein RP, Bennet ER, Barbetti F, Accili D, Taylor SI.

J Clin Endocrinol Metab. 1994 May;78(5):1153-8.PMID: 8175972 [PubMed - indexed for MEDLINE]Related articles

Two mutations in a conserved structural motif in the insulin receptor inhibit normal folding and intracellular transport of the receptor.

Wertheimer E, Barbetti F, Muggeo M, Roth J, Taylor SI.

J Biol Chem. 1994 Mar 11;269(10):7587-92.PMID: 8125981 [PubMed - indexed for MEDLINE]Related articlesFree article

Insulin resistance due to mutations of the insulin receptor gene: an overview.

Accili D, Cama A, Barbetti F, Kadowaki H, Kadowaki T, Taylor SI.

J Endocrinol Invest. 1992 Dec;15(11):857-64. Review. No abstract available. PMID: 1291599 [PubMed - indexed for MEDLINE]Related articles

Mutations in the insulin receptor gene.

Taylor SI, Cama A, Accili D, Barbetti F, Quon MJ, de la Luz Sierra M, Suzuki Y, Koller E, Levy-Toledano R, Wertheimer E, et al.

Endocr Rev. 1992 Aug;13(3):566-95. Review. No abstract available. PMID: 1330507 [PubMed - indexed for MEDLINE]Related articles

Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance and acanthosis nigricans.

Accili D, Barbetti F, Cama A, Kadowaki H, Kadowaki T, Imano E, Levy-Toledano R, Taylor SI.

J Invest Dermatol. 1992 Jun;98(6 Suppl):77S-81S. Review.PMID: 1588128 [PubMed - indexed for MEDLINE]Related articles

Detection of mutations in insulin receptor gene by denaturing gradient gel electrophoresis.

Barbetti F, Gejman PV, Taylor SI, Raben N, Cama A, Bonora E, Pizzo P, Moghetti P, Muggeo M, Roth J.

Diabetes. 1992 Apr;41(4):408-15.PMID: 1607067 [PubMed - indexed for MEDLINE]Related articles

Genetic basis of endocrine disease. 1. Molecular genetics of insulin resistant diabetes mellitus.

Taylor SI, Cama A, Accili D, Barbetti F, Imano E, Kadowaki H, Kadowaki T.

J Clin Endocrinol Metab. 1991 Dec;73(6):1158-63. No abstract available. PMID: 1955495 [PubMed - indexed for MEDLINE]Related articles

Normal coding sequence of insulin gene in Pima Indians and Nauruans, two groups with highest prevalence of type II diabetes.

Raben N, Barbetti F, Cama A, Lesniak MA, Lillioja S, Zimmet P, Serjeantson SW, Taylor SI, Roth J.

Diabetes. 1991 Jan;40(1):118-22.PMID: 2015966 [PubMed - indexed for MEDLINE]Related articles

Two unrelated patients with familial hyperproinsulinemia due to a mutation substituting histidine for arginine at position 65 in the proinsulin molecule: identification of the mutation by direct sequencing of genomic deoxyribonucleic acid amplified by polymerase chain reaction.

Barbetti F, Raben N, Kadowaki T, Cama A, Accili D, Gabbay KH, Merenich JA, Taylor SI, Roth J.

J Clin Endocrinol Metab. 1990 Jul;71(1):164-9.PMID: 2196279 [PubMed - indexed for MEDLINE]Related articles

Growth hormone does not inhibit its own secretion during prolonged hypoglycemia in man.

Barbetti F, Crescenti C, Negri M, Leonetti F, Grossi A, Tamburrano G.

J Clin Endocrinol Metab. 1990 May;70(5):1371-4.PMID: 2110574 [PubMed - indexed for MEDLINE]Related articles

[Sequential infusion of GHRH 1-29NH2, LHRH and TRH for evaluating the hypophyseal reserve. Comparison with Politest]

Grossi A, Barbetti F, Bulletta C, Ciampalini P, Jaffrain-Rea ML, Tamburrano G.

Minerva Endocrinol. 1989 Oct-Dec;14(4):213-9. Italian. PMID: 2561518 [PubMed - indexed for MEDLINE]Related articles