High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI

Diabetologia

Volumn 44, Issue 7, 2001, Pages 898-905

  Massa, O ^a   Meschi, F ^a   Cuesta Munoz, A ^b   Caumo, A ^a   Cerutti, F ^c   Toni, S ^d   Cherubini, V ^e   Guazzarotti, L ^f   Sulli, N ^g   Matschinsky, F M ^b   Lorini, R ^h   Iafusco, D ^i,j   Barbetti, Fabrizio ^a   Alibrandi, A ^j   Angius, E ^j   Bonfanti, R ^j   Borboni, P ^j   Bernasconi, S ^j   Cadario, F ^j   Calisti, L ^j   Cappa, M ^j   Cauvin, V ^j   Chiumello, G ^j   Cicchetti, M ^j   Contreas, G ^j   Crino A ^j   D' Annunzio, G ^j   Franzese, A ^j   Frongia, P ^j   Iughetti, L ^j   Magro, G ^j   Marietti, G ^j   Martinucci, M ^j   Meossi, C ^j   Multari, G ^j   Rabbone, I ^j   Scaramuzza, A ^j   Vanelli, M ^j   Vanini, R ^j   Visentin, A ^j   Vitullo, P ^j   more..

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

^c UNIVERSITY OF TURIN   (Italy)

^d UNIVERSITY OF FLORENCE   (Italy)

^e UNIVERSITÀ POLITECNICA DELLE MARCHE   (Italy)

^f S Lucia Hospital   (Italy)

^g SAPIENZA UNIVERSITY OF ROME   (Italy)

^h UNIVERSITY OF GENOA   (Italy)

ⁱ UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^j NONE

more..

Author keywords

BMI; Glucokinase; Insulin secretion; Insulin sensitivity; Italy; MODY 2

Indexed keywords

EID: 0034947265     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250100530     Document Type: Article

References (48)

1. Familial hyperglycemia due to mutations in glucokinase
2. Mutations in the hepatocyte nuclear factor-4-alpha gene in maturity-onset diabetes of the young (MODY 1)
3. Mutations in the hepatocyte nuclear factor-1-alpha gene in maturity-onset diabetes of the young (MODY 3)
4. Early-onset type II diabetes mellitus (MODY 4) linked to IPF 1
5. Mutation in hepatocyte nuclear factor 1β gene (TCF2) associated with MODY
6. Mutation screening in 18 Caucasian families suggest the existance of other MODY genes
7. Mutations in the hepatocyte nuclear factor 1β are not a common cause of maturity-onset diabetes of the young in the UK
8. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes
9. Molecular genetics of MODY in Germany
10. Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families
11. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
12. Mammalian glucokinase and its gene
13. Glucose-induced intracellular ion changes in sugar-sensitivity hypotalamic neurons
14. Analysis of upstream glucokinase promoter activity in transgenic mice and identification of glucokinase in rare neuroendocrine cells in the brain and gut
15. Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes
16. Banting Lecture 1995. A lesson in metabolic regulation inspired by the glucokinase glucose sensor paradigm
17. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young
18. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations
19. Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY 2) subjects
20. Glucokinase mutations, insulin secretion, and diabetes mellitus
21. Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
22. Assessment of insulin sensitivity in glucokinase-deficient subjects
23. Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique
24. Normal values of first-phase insulin response to intravenous glucose in healthy Italian children and adolescents
25. Insulin sensitivity from meal tolerance tests in normal subjcets: A minimal model index
26. Human glucokinase gene: Isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus
27. Sequence variations of the glucokinase gene in Japanese subjects with NIDDM
28. Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis
29. Detection of mutations in the insulin receptor gene by denaturing gradient gel electrophoresis
30. Optimized detection of DNA point mutations by double gradient DGGE
31. Structural model of human glucokinase in complex with glucose and ATP: Implications for the mutants that cause hypo- and hyperglycemia
32. Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis
33. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria
34. Prevalence of the maturity onset diabetes of the young (MODY) in the pediatric population of the Italy's Marche region
35. A new missense mutation in the glucokinase gene in an Italian MODY family
36. Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY)
37. MODY 2 presenting as neonatal hyperglycaemia: A need to reshape the definition of "neonatal diabetes"?
38. Body composition during adolescence: Methods, limitations and determinants
39. Defining childhood obesity: The relative body mass index (BMI)
40. Differential impact of obesity on glucose metabolism in black and white American adolescents
41. Novel mutations and a mutational hotspot in the MODY3 gene
42. Glucokinase
43. Cell-biological assessment of human glucokinase mutants causing maturity-onset diabetes of the young type 2 (MODY-2) or glucokinase-linked hyperinsulinaemia (GK-HI)
44. Effect of loss of first-phase insulin secretion on hepatic glucose production and tissue glucose disposal in humans
45. Physiological importance of deficiency in early prandial insulin secretion in non-insulin-dependent diabetes
46. Role of reduced suppression of glucose production and diminished early insulin release in impaired glucose tolerance
47. Restoration of early rise in plasma insulin levels improves the glucose tolerance of type 2 diabetic patients
48. Familial hyperinsulinism caused by an activating glucokinase mutation