Maturity-onset diabetes of the young: From clinical description to molecular genetic characterization

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 15, Issue 3, 2001, Pages 309-323

  Owen, Katharine ^a   Hattersley, Andrew T ^a  

^a UNIVERSITY OF EXETER   (United Kingdom)

Author keywords

Diagnostic testing; Glucokinase; HNF 1 ; HNF 1 ; HNF 4 ; IPF 1; MODY

Indexed keywords

GLUCOKINASE; GLUCOSE; HEPATOCYTE NUCLEAR FACTOR 1ALPHA; HEPATOCYTE NUCLEAR FACTOR 1BETA; HEPATOCYTE NUCLEAR FACTOR 4 ALPHA; INSULIN PROMOTER FACTOR I; METFORMIN; SULFONYLUREA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; CLINICAL EXAMINATION; CLINICAL FEATURE; DIABETES MELLITUS; DIAGNOSTIC TEST; DIET THERAPY; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE COURSE; DISEASE SEVERITY; FAMILIAL DISEASE; FAMILY HISTORY; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC LINKAGE; GENETIC PREDISPOSITION; GLUCOSE BLOOD LEVEL; HUMAN; HYPERGLYCEMIA; KIDNEY POLYCYSTIC DISEASE; MATURITY ONSET DIABETES MELLITUS; MOLECULAR GENETICS; NEWBORN DISEASE; NONHUMAN; ONSET AGE; PANCREAS ISLET DISEASE; PATHOPHYSIOLOGY; PHARMACOGENETICS; PHENOTYPE; PREGNANCY; PROGNOSIS; REVIEW;

EID: 0034809513     PISSN: 1521690X     EISSN: None     Source Type: Journal    
DOI: 10.1053/beem.2001.0148     Document Type: Article

References (53)

1. Mild familial diabetes with dominant inheritance
2. Type II diabetes of early onset: A distinct clinical and genetic syndrome?
3. Close linkage of glucokinase locus on chromosome 7p to early-onset non-insulin-dependent diabetes mellitus
4. Linkage of type 2 diabetes to the glucokinase gene
5. Gene for non-insulin-dependent diabetes mellitus (maturity-onset diabetes of the young subtype) is linked to DNA polymorphism on human chromosome 20q
6. A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
7. Mutations in the hepatic nuclear factor 1 alpha gene in maturity-onset diabetes of the young (MODY3)
8. Mutations in the hepatocyte nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1)
9. Mutation in hepatocyte nuclear factor-1b gene (TCF2) associated with MODY
10. Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence
11. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
12. Pancreatic islet glucose metabolism and regulation of insulin secretion
13. Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
14. Familial hyperinsulinism caused by an activating glucokinase mutation
15. Beta-cell genes and diabetes: Quantitative and qualitative differences in the pathophysiology of hepatic nuclear factor 1-alpha and glucokinase mutations
16. Clinical characteristics of subjects with a missense mutation in glucokinase
17. Insulin secretory abnormalities in subjects with hyperglycemia due to glucokinase mutations
18. Primary pancreatic beta-cell secretory defect caused by mutations in glucokinase gene in kindreds of maturity onset diabetes of the young
19. Insulin resistance as the major cause of impaired glucose tolerance: A self-fulfilling prophesy?
20. Impaired hepatic glycogen-synthesis in glucokinase-deficient (MODY2) subjects
21. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
22. High prevalence of a missense mutation of the glucokinase gene in gestational diabetic patients due to a founder-effect in a local population
23. Mutations in the glucokinase gene of the fetus result in reduced birth weight
24. A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria
25. Permanent neonatal diabetes mellitus due to glucokinase deficiency: An inborn error of the glucose/insulin signaling pathway
26. HNF-1alpha mutations in MODY
27. A rapid screening method for HNF-1 alpha; Prevalence in MODY and late-onset non-insulin dependent diabetes
28. Clinical characteristics of the HNF1α (MODY3) and glucokinase mutations
29. Genetic testing in maturity onset diabetes of the young (MODY): A new challenge for the diabetic clinic
30. Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect
31. Altered insulin secretory responses to glucose in diabetic and nondiabetic subjects with mutations in the diabetes susceptibility gene MODY3 on Chromosome 12
32. Sensitivity to sulphonylureas in patients with hepatocyte nuclear factor 1 alpha gene mutations: Evidence for pharmacogenetics in diabetes
33. Proposed mechanism for a novel insertion/deletion frameshift mutation (1414G415ATCG-CCA) in the HNF-1α gene which causes MODY
34. A low renal threshold for glucose in diabetic patients with a mutation in HNF-1 alpha gene
35. HNF1 alpha controls renal glucose reabsorption in mouse and man
36. Mapping diabetes-susceptibility genes. Lessons learned from search for DNA marker for maturity-onset diabetes of the young
37. A missense mutation in HNF-4 alpha, resulting in a reduced transactivation activity, in human late-onset non- insulin-dependent diabetes mellitus
38. Mutation in the HNF-4 alpha gene affects insulin secretion and triglyceride metabolism
39. Mutations in HNF-1 beta are not a common cause of maturity-onset diabetes of the young in the U.K.
40. Frameshift mutation, A263fsinsGG, in the HNF-1 beta gene associated with diabetes and renal dysfunction
41. Abnormal nephron development associated with a frameshift mutation in the transcription factor HNF-1 beta
42. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of HNF-1 beta
43. Mutations in the HNF1-beta gene are associated with familial hypoplastic glomerulocystic kidney disease
44. Transcribing pancreas
45. Insulin promoter factor 1 gene is not a major cause of maturity-onset diabetes of the young in French Caucasians
46. Missense mutations in the IPF-1 gene predispose to type 2 diabetes
47. Mutations in the coding region of the IPF 1 gene are not a common cause of maturity-onset diabetes of the young in Japanese subjects
48. Defective mutations in the IPF-1 gene in late-onset type 2 diabetes mellitus
49. Functional consequences of mutations in the MODY4 gene (IPF-1) and co-existence with MODY3 mutation
50. Mutation screening in 18 Caucasian families suggests the existence of other MODY genes
51. Maturity-onset diabetes of the young due to a mutation in the hepatocyte nuclear factor-4 alpha binding site in the promoter of the hepatocyte nuclear factor-1 alpha gene
52. Mutations in NEURODI are associated with the development of type 2 diabetes mellitus