dc.relation.reference | 1. Aitman TJ. 2003. Genetics medicine and obesity. N. Engl. J. Med. 348:2138-2139.
2. Atkinson MA, Maclaren NK. 1994. The pathogenesis of insulin dependent diabetes. N. Eng. J. Med. 331:1428-1436.
3. Banerji M, Lebovitz H. 1989. Insulin sensitive and insulin resistant variants in IDDM. Diabetes 38:784-792.
4. Bellanne-Chantelot C, Chauveau D, Gautier JF, Dubois-Laforgue D, Clauin S, Beaufils S, Wilhelm JM, Boitard C, Noel LH, Velho G, Timsit J. 2004. Clinical spectrum associated with hepatocyte nuclear factor-1B mutations Ann. Intern. Med. 140:510-517.
5. Bogardus C, Lillioja S, Mott DM, Hollenbeck C, Reaven G. 1985. Relationship between degree of obesity and in vivo insulin action in man. Am J Physiol. 248:E286-E291.
6. Byrne MM, Sturis J, Fajans SS, et al. 1995. Altered insulin secretory response to glucose in subjects with a mutation in the MODY 1 gene on chromosome 20. Diabetes 44: 699-704.
7. Canter AB, Krischer JP, Cuthbertson DD, Schatz DA, Riley WJ, Malone J, Schwartz S, Quattrin T, Maclaren NK. 1995. Age and family relationship accentuate the risk of IDDM in relatives of patients with insulin dependent diabetes. J. Clin. Endocrinol. Metab. 80: 3739-3743. ]
8. Cereghini S, 1996. Liver-enriched transcription factors and hepatocyte differentiation. FASEB J 10:267-282.
9. Cockburn BN, Bermano G, Boodram LLG, Teelucksingh S, Tsuchiya T, Mahabir D, Allan AB, Stein R, Docherty K, Bell GI. 2004. Insulin promoter factor-1 mutations and diabetes in Trinidad: identification of a novel diabetes-associated mutation (E224K) in an Indo-Trinidadian family. J. Clin. Endocr. Metab. 89: 971-978.
10. Domínguez-López A, Miliar-García Á, Segura-Kato YX, Riba L, Esparza-López J, Ramírez-Jiménz S, Rodríguez-Torres M, Canizales-Quinteros S, Cabrera-Vásquez S, Fragoso-Ontiveros V, Aguilar-Salinas CA, Altamirano-Bustamante N, Calzada-León R, Robles-Valdés C, Bravo-Ríos LE, Tusié-Luna MT. 2005. Mutations in MODY genes are not common cause of early-onset Type 2 diabetes in Mexican families. J. Pancreas 6(3): 238-245.
11. Ellard S, Beards F, Allen LI, et al. 2000. A high prevalence of glucokinase mutations in gestational diabetes subjects selected by clinical criteria. Diabetologia 43: 250-253.
12. Fajans SS, Conn JW. 1960. Tolbutamide-induced improvement in carbohydrate tolerance of young people with mild diabetes mellitus. Diabetes 9: 83.
13. Fajans SS, 1987. MODY: a model for understanding the pathogeneses and natural history of type II diabetes. Horm Metab Res 19: 591-599.
14. Fajans SS, Brown B. 1993. Adminstration of sulfonylureas can increase glucose-induced insulin secretion for decades in patients with maturity- onset diabetes of the young. Diabetes Care 16: 1254-1261.
15. Fajans SS, Bell GI, Bowden DW, Halter JB, Polonsky KS, 1994. Maturity-onset diabetes of the young. Life Sci 55: 413-422.
16. Fajans SS, Bell GI, Polonsky KS. 2001. Molecular mechanisms and clinical pathophysiology of maturity-onset diabetes of the young. New Eng. J. Med. 345: 971-980.
17. Frayling TM, Bulman MP, Appleton M, Hattersley AT, Ellard S. 1997. A rapid screening method for hepatocyte nuclear factor 1 alpha frameshift mutations; prevalence in maturity-onset diabetes of the young and late-onset non-insulin dependent diabetes. Hum. Genet. 101:351-354.
18. Frayling TM, Bulman MP, Ellard S, et al. 1997. Mutations in the hepatocyte nuclear factor-1a gene are a common cause of maturity- onset diabetes of the young in U.K. Diabetes. 46: 720-725.
19. Frayling TM, Evans JC, Bulman MP, Pearson E, Allen L, Owen K, Bingham C, Hannemann M, Shepherd M, Ellard S, Hattersley AT. 2001. b-cell genes and diabetes: molecular and clinical characterization of mutations in transcription factors. Diabetes 50: S94-S100.
20. Froguel P, Vaxillaire M, Sun F et al. 1992. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus. Nature 356:162-164.
21. Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F et al. 1993. Familial hyperglycemia due to mutations in glucokinase: definition of a subtype of diabetes mellitus. N. Eng. J. Med. 328: 697-702.
22. Froguel P, Vaxillaire M & Velho G. 1997. Genetics and metabolic heterogeneity of maturity onset diabetes of the young. Diabetes Rev. 5: 123-130.
23. Furuta H, Horikawa Y, Iwasaki N. 1998. Mutations in the coding region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) genes are not associated with maturity-onset diabetes of the young in Japanese. Diabetes 47: 1356-1358.
24. Gupta RK, Kaestner KH. HNF-4a: from MODY to late-onset type 2 diabetes. 2004. Trends Mol. Med. 10 (11):521-524.
25. Hara M, Lindner TH, Paz VP. 1998. Mutations in the coding region of the insulin promoter factor 1 gene are not a common cause of maturity-onset diabetes of the young in Japanese subjects. Diabetes 47: 845-846.
26. Hattersley AT, Turner RC, Permutt MA et al. 1992. Linkage of type 2 diabetes to the glucokinase gene. Lancet 339: 1307-1310.
27. Hattersley AT. 1998. Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetics heterogeneity. Diabet. Med. 15:15-24.
28. Herman WH, Fajans SS, Ortiz FJ, et al. 1994. Abnormal insulin secretion, not insulin resistance, is the genetic or primary defect of MODY in the RW pedigree. Diabetes 43: 40-46. [Erratum, Diabetes 1994; 43:1171.]
29. Horen RB, Shuldiner AR. 2004. Genetics of diabetes. Rev. End. Meta. Dis. 5:25-36.
30. Horikawa Y, Iwasaki N, Hara M, Furuta H, Hinokio Y, Cockburn BN, Lindner T, Yamagata K, Ogata M, Tomonaga O, Kuroki H, Kasahara T, Iwamoto Y, Bell GI. 1997. Mutation in hepatocyte nuclear factor-1b gene (TCF2) associated with MODY. Nat Genet 17: 384-385.
31. Huang W, Connor E, DelaRosa T, Muir A, Schaz D, Silverstein J, Crockett S, She JX, Maclaren NK. 1996. Although DR3-DQB1* may be associated with multiple component diseases of the autoimmune polyglandular syndromes, the human leukocyte antigen DR4-DQB1I0302 halotype is implicated only in beta cell autoimmunity. J. Clin. Endocrinol. Metab. 81:1-5.
32. Isomma B, Henricsson M, Lehto M, Forsblom C, Karanko S, Sarelin L, Haggblom M, Groop L. 1998. Chronic diabetic complications in patients with MODY 3 diabetes. Diabetologia 41: 467-473.
33. Iwasaki N, Oda N, Ogata M, Hara M, Hinokio Y, Oda Y, Yamagata K, Kanematsu S, Ohgawara H, Omori Y Bell GI. 1997. Mutations in the hepatocyte nuclear factor-1a/MODY 3 gene in Japanese subjects with early-onset and late-onset NIDDM. Diabetes 46: 1504-1508.
34. Jap TS, Wu YC, Chiou JY, Kwok CF. 2000. A novel mutation in the hepatocyte nuclear factor-1a/MODY3 gene in Chinese subjects with early-onset Type 2 diabetes mellitus in Taiwan. Diabet. Med. 17: 390-393.
35. Ladias JA, Hadzopoulou-Cladaras M, Kardassis D, et al. 1992. Transcriptional regulation of human apolipoprotein genes ApoB, ApoCIII, and ApoAII by members of the steroid hormone receptor superfamily HNF-4, ARP-1, EAR-2, and EAR-3. J. Biol. Chem. 267: 15849-15860.
36. Malecki MT, Jhala US, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram JH, Montminy M, Krolewski AS. 1999. Mutation in NEUROD1 are associated with the development of type 2 diabetes mellitus. Nat Genet 23: 323-328.
37. Matschinsky FM, Glaser B, Magnuson MA. 1998. Pancreaic b-cell glucokinase: closing the gap between theoretical concepts and experimental realities. Diabetes 47: 307-315.
38. Menzel R, Kaisaki PJ, Rjasanowski I, Heinke P, Kerner W, Menzel S. 1998. A low renal threshold for glucose in dabetic patients with a mutation in the hepatocyte nuclear factor-1a (HNF-1a) gene. Diabet. Med. 15:816-820.
39. Moller AM, Dalgaard LT, Pociot F, Nerup J, Hansen T, Pedersen O. 1998. Mutations in the hepatocyte nuclear factor-1 alpha gene in Caucasian families originally classified as having Type 1 diabetes. Diabetologia 41: 1528-1531.
40. Naya FJ, Huang HP, Qiu Y, Mutoh H, DeMayo FJ, Leiter AB, Tsai MJ, DeMayo FJ. 1997. Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD deficient mice. Genes Dev. 11: 2323-2334.
41. Nishigori H, Yamada S, Kohama T, Tomura H, Sho K, Horikawa Y, Bell GI, Takeuchi T, Takeda J. 1998. Frameshift mutation, A263fsinsGG, in the hepatocyte nuclear factor-1b gene associated with diabetes and renal dysfunction. Diabetes 47: 1354-1355.
42. Njølstad PR, Søvik O, Guesta-Muñoz A, et al. 2001. Neonatal diabetes mellitus due to complete glucokinase deficiency. N. Eng. J. Med. 344: 1588-1592.
43. Olefsky JM, Kolterman OG, Scarlett JA. 1982. Insulin action and resistance in obesity and noninsulin-dependent type II diabetes mellitus. Am. J. Physiol. 243:E15-E30.
44. O’Rahilly S, Spivey RS, Holman RR, Nugent Z, Clark A, Turner RC. 1987. Type II diabetes of early onset: a distinct clinical and genetic syndrome? Br. Med. J. 294:923-928.
45. Pearson ER, Liddell WG, Shepherd M. 2000. Sensitivity to sulphonylureas in patients with HNF1alpha mutations: evidence for pharmacogenetics in diabetes. Diabetic Med. 17: 543-545.
46. Pearson ER, Velho G, Clark P, et al. 2001. b-Cell genes and diabetes: quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor-1a and glucokinase mutations. Diabetes. 50: S101-S107.
47. Perason ER, Pruhova S, Tack CJ, Johansen A, Castleden HAJ, Lumb PJ, Wierzbicki AS, Clark PM, Lebl J, Pedersen O, Ellard S. Hansen T, Hattersley AT. 2005. Molecular genetics and phenotypic characteristics of MODY caused by hepatocyte nuclear factor 4a mutations in a large European collection. Diabetologia 48: 878-885.
48. Polonsky KS, Sturis J, Bell, GI. 1996. Non-insulin-dependent diabetes mellitus: a genetically programmed failure of the beta cell to compensate for insulin resistance. N. Engl. J. Med. 334: 777-784.
49. Prisco F, Iafusco D, Franzese A Sulli N, Barbetti F. 2000. MODY 2 presenting as neonatal hyperglycaemia: a need to reshape the definition of “neonatal diabetes”? Diabetologia 43: 1331-1332.
50. Schadt EE, Monks SA, Drake TA, Lusis AJ, Che N, Colinayo V, Ruff TG, Milligan SB, Lamb JR, Cavet G, Linsley PS, Mao M, Stoughton RB, Friend SH. 2003. The genetics of gene expression surveyed in maize, mouse and man. Nature 422:297-302.
51. Shih DQ, Dansky HM, Fleisher M, Assmann G, Fajans SS, Stoffel M. 2000. Genotype/phenotype relationships in HNF-4alpha/MOY1: haploinsufficiency is associated with reduced apolipoprotein (AII), apolipoprotein (CIII), lipoprotein(a), and triglyceride levels. Diabetes 49: 832-837.
52. Shepherd M, Hattersley AT, Sparkes AC. 2000. Prediceive genetic testing in diabetes: a case study of multiple perspectives. Qualitative Health. Res. 10 (2): 242-259.
53. Shepherd M, Sparkes AC, Hattersley AT. Genetic testing in maturity onset diabetes of the young (MODY): a new challenge for the diabetic clinic. Pract Diab Int 2001; 18: 16-21.
54. Shepherd M. Genetic testing in maturity onset diabetes of the young (MODY) – practical guidelines for professionals. Pract Diab Int 2003; 20:108-110.
55. Sovik O, Njolstad P, Folling I, Sagen J, Cockburn BN, Bell GI. 1998. Hyperexcitability to sulphonylurea in MODY 3. Diabetologia 41: 607-608.
56. Steiner DF, Tager HS, Chan SJ, Nanjo K, Sanke T & Rubenstein AH. 1990. Lesson learned from molecular biology of insulin-gene mutations. Diabetes Care. 13: 600-609.
57. Stoffel M, Duncan SA. 1997. The maturity-onset diabetes of the young (MODY 1) transcription factor HNF4a regulates expression of genes required for glucose transport and metabolism. Proc. Natl. Acad. Sci. USA. 94: 13209-13214.
58. Stoffer DA, Ferrer J, Clarke WL, Habener JF. 1997. Early-onset type-II diabetes mellitus (MODY 4) linked to IPF1. Nat Genet 17: 138-139.
59. Stoffers DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF. 1997. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nat. Genet. 15: 106-110.
60. Taylor SI, Molecular mechanisms of insulin resistance: lessons from patients with mutations in the insulin-receptor gene. 1992. Diabetes. 41: 1473-1490.
61. Tattersall RB. 1974. Mild familial diabetes with dominant inheritance. Q. J. Med. 43: 339-357.
62. Tattersall RB, Fajans SS. 1975. A difference between the inheritance of classical juvenile-onset and maturity-onset type of diabetes in young people. Diabetes 24:44-53.
63. Tattersall R. 1998. Maturity-onset diabetes of the young: a clinical history. Diabet. Med. 15:11-14.
64. Turner RC, Holman RR, Matthew D, Hockaday TDR, Peto J. 1979. Insulin deficiency and insulin resistance interaction in diabetes: estimation of their relative to contribution by feedback analysis from basal plasma insulin and glucose concentration. Metabolism 28: 1086-1096.
65. The expert committee on the diagnosis and classification of diabetes mellitus. 1997. Report of the expert committee on the diagnosis and classification of diabetes mellitus. Diabetes Care 20: 1183-1197.
66. Umpierrez GE, Casals MMC, Gebhart SSP, Mizon PS, Clark WS, Phillips LS. 1995. Diabetic ketoacidiosis in obese African-Americans. Diabetes 44: 79-85.
67. Uusitupaa MIJ, Niskanen LK, Siitonen O, Voutilainen E, Pyorala K. 1993. Ten year cardiovascular mortality in relation to risk factors abnormalities in lipoprotein composition in type 2 (non-insulin-dependent) diabetic and non-diabetic subjects. Diabetologia 18: 1534-1543.
68. Van den Ouweland JMW, Lemkes HHPJ, Ruitenbeek W, Sandkuijl LA, De Vijlder MF, Struyvenberg PAA et al. 1992. Mutation in mitochondrial tRNA Leu (UUR) gene in a large pedigree with maternally transmitted type II diabetes and deafness. Nat Genet. 1: 368-371.
69. Vaxillaire M, Baccio V, Philippi A, Vigou1roux C, Terwillinger J, Passa P, Beckmann JS, Velho G, Lathrop GM, FroguelP. 1995. A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q. Nature Genetics 9: 418-423.
70. Velho G, Vaxillaire M, Boccio V, Charpentire G, Frogul P. 1996. Diabetes complications in NIDDM kindreds linked to the MODY 3 locus on chromosome 12q. Diabetes Care 19: 915-919.
71. Xu JY, Dan QH, Chan V, Wat N MS, et al. 2005. Genetic and clinical characteristics of maturity-onset diabetes of the young in Chinese patients. Euro. J. Hum. Genet. 13:422-427.
72. Yamada S, Zhu Q, Aihara Y et al. 2000. Cloning of cDNA and the gene encoding human hepatocyte nuclear factor (HNF)-3b and mutation screening in Japanese subjects with maturity-onset diabetes of the young. Diabetologia 43: 121-124.
73. Yamada S, Nishigori H, Onda H, Utsugi T, Yanagawa T, Maruyama T, Onigata K, Nagashima K, Nagai R, Morikawa A, Takeuchi T, Takeda J. 1997. Identification of mutations in the hepatocyte nuclear factor (HNF)-1a gene in Japanese subjects with IDDM. Diabetes 46: 1643-1647.
74. Yamataga K, Oda N, Kaisaki PJ, Menzel S, Furuta H, Vaxillvire M, Southam L, Cox RD, Lathrop GM, Boriraj VV, Chen X, Cox NJ, Oda Y, Yano H, Le Beau MM., Yamada S, Nishigori H, Takeda J, Fajans SS, Hattersley AT, Iwasaki N, Hansen T, Pedersen O, Polonsky KS, Turner RC, Velho G, Chèvre, JC, Froguel P, Bell GI.1996. Mutations in the hepatic nuclear factor 1 alpha gene in maturity onset diabetes of the young (MODY3). Nature 384: 455-458.
75. Yamataga K, Furuta H, Oda N, Kaisaki PJ, Menzel S, Cox NJ, Fajans SS, Signorini S, Stoffel M, Bell GI. 1996. Mutations in the hepatic nuclear factor 4 alpha gene in maturity onset diabetes of the young (MODY1). Nature 384: 458-460.
76. Yamagata K. 2003. Regulation of pancreatic b-cell function by the HNF transcription netweek: Lessons from Maturity-Onset Diabetes of the Young (MODY). Endocrine Journal. 50(5): 491-499. | en |