Monogenic forms of obesity and diabetes mellitus

Journal of Pediatric Endocrinology and Metabolism

Volumn 15, Issue 3, 2002, Pages 241-253

  Tsigos, Constantine ^a   Kyrou, Ioannis ^a   Raptis, Sotiris A ^a  

^a UNIVERSITY OF ATHENS   (Greece)

Author keywords

Diabetes mellitus genes; Insulin resistance; Mitochondrial diabetes mellitus; MODY; Obesity genes; Obesity syndromes; PPAR

Indexed keywords

FURIN; GLUCOKINASE; HEPATOCYTE NUCLEAR FACTOR 4; HEPATOCYTE NUCLEAR FACTOR 4 ALPHA; INSULIN; INSULIN PROMOTER FACTOR 1; INSULIN RECEPTOR; LEPTIN; LEPTIN RECEPTOR; MELANOCORTIN 4 RECEPTOR; MITOCHONDRIAL DNA; NUCLEAR FACTOR I; NUCLEAR FACTOR I ALPHA; NUCLEAR FACTOR I BETA; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA; PROOPIOMELANOCORTIN; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; APPETITE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CELL SPECIFICITY; CONTROLLED STUDY; DIABETES MELLITUS; DISEASE ASSOCIATION; DISEASE SEVERITY; ENERGY BALANCE; EXTRACHROMOSOMAL INHERITANCE; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; HUMAN; HYPOTHALAMUS DISEASE; INSULIN RELEASE; INSULIN RESISTANCE; MATURITY ONSET DIABETES MELLITUS; MOLECULAR GENETICS; MONOGENIC DISORDER; MOUSE; NON INSULIN DEPENDENT DIABETES MELLITUS; NONHUMAN; OBESITY; PATHOGENESIS; PERCEPTION DEAFNESS; PHENOTYPIC VARIATION; PREVALENCE; REVIEW;

EID: 0036004497     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/JPEM.2002.15.3.241     Document Type: Review

References (73)

1. Genetic models of obesity and energy balance in the mouse
2. Effects of parabiosis of obese with diabetes and normal mice
3. Positional cloning of the mouse obese gene and its human homologue
4. Identification and expression cloning of a leptin receptor, OB-R
5. Leptin and the regulation of body weight in mammals
6. Evidence that the diabetes gene encodes the leptin receptor: Identification of a mutation in the leptin receptor gene in db/db mice
7. Abnormal splicing of the leptin receptor in diabetic mice
8. Leptin receptor missense mutation in the fatty Zucker rat
9. Phenotype of the obese Koletsky (f) rat due to Tyr763Stop mutation in the extracellular domain of the leptin receptor (Lepr): Evidence for deficient plasma-to-CSF transport of leptin in both the Zucker and Koletsky obese rat
10. Signals that regulate food intake and energy homeostasis
11. Molecular characterization of the mouse agouti locus
12. A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation
13. The agouti gene: Turned on to yellow
14. Obesity and the hypothalamus: Novel peptides for new pathways
15. Overexpression of Agrt leads to obesity in transgenic mice
16. Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein
17. Targeted disruption of the melanocortin-4 receptor results in obesity in mice
18. Melanocortin receptors in leptin effects
19. Role of melanocortinergic neurons in feeding and the agouti obesity syndrome
20. Hyperproinsulinaemia in obese fat/fat mice associated with a carboxypeptidase E mutation which reduces enzyme activity
21. A leptin missense mutation associated with hypogonadism and morbid obesity
22. Congenital leptin deficiency is associated with severe early-onset obesity in humans
23. A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction
24. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
25. Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans
26. A frameshift mutation in human MC4R is associated with a dominant form of obesity
27. Brief report: Impaired processing of prohormones associated with abnormalities of glucose homeostasis and adrenal function
28. Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene
29. Effects of recombinant leptin therapy in a child with congenital leptin deficiency
30. Recombinant leptin for weight loss in obese and lean adults: A randomized, controlled, dose-escalation trial
31. Genetic, metabolic and clinical characteristics of maturity onset diabetes of the young
32. Maturity-onset diabetes of the young: Clinical heterogeneity explained by genetic heterogeneity
33. Is maturity onset diabetes at young age (MODY) more common in Europe than previously assumed?
34. Familial hyperglycemia due to mutations in glucokinase: Definition of a subtype of diabetes mellitus
35. Mutations in the hepatic nuclear factor I alpha gene in maturity-onset diabetes of the young (MODY3)
36. Mutation in hepatocyte nuclear factor-1 gene (TCF2) associated with MODY
37. Mutations in the hepatocyte nuclear factor 4 alpha gene in maturity-onset diabetes of the young (MODY1)
38. Early-onset type-II diabetes mellitus (MODY4) linked to IPF1
39. Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus
40. Regulation of a transcription factor network required for differentiation and metabolism
41. Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3)
42. Beta-cell genes and diabetes: Molecular and clinical characterization of mutations in transcription factors
43. Diabetes complications in NIDDM kindreds linked to the MODY3 locus on chromosome 12q
44. Natural history, genetics and pathogenesis of HNF-4/MODY1: A 40-year prospective study of the RW pedigree
45. Missense mutations in the insulin promoter factor 1 (IPF-1) gene predispose to type 2 diabetes
46. Defective mutations in the insulin promoter factor-1 (IPF-1) gene in late-onset type 2 diabetes mellitus
47. A novel syndrome of diabetes mellitus, renal dysfunction and genital malformation associated with a partial deletion of the pseudo-POU domain of hepatocyte nuclear factor-1beta
48. Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families
49. Glucokinase as glucose sensor and metabolic signal generator in pancreatic beta-cells and hepatocytes
50. Glucokinase mutations associated with non insulin dependent (type 2) diabetes mellitus have decreased enzymatic activity: Implications for structure/function relationships
51. Familial hyperinsulinism caused by an activating glucokinase mutation
52. Sequence and organization of the human mitochondrial genome
53. Molecular and clinical aspects of mitochondrial diabetes mellitus
54. Mitochondrial disorders: Clinical and genetic features
55. A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA
56. Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus
57. A mutation in the tRNA (Leu) (UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
58. Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
59. Maternally inherited diabetes and deafness: A new diabetes subtype
60. Beta-cell mitochondria in the regulation of insulin secretion: A new culprit in type II diabetes
61. Clinical phenotypes, insulin secretion, and insulin sensitivity in kindreds with maternally inherited diabetes and deafness due to mitochondrial tRNALeu (UUR) gene mutation
62. Mitochondrial DNA mutations are associated with both decreased insulin secretion and advanced microvascular complications in Japanese diabetic subjects
63. The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation
64. Molecular mechanisms of insulin resistance. Introduction
65. Syndromes associated with insulin resistance and acanthosis nigricans
66. Mutant insulin receptors in syndromes of insulin resistance
67. Molecular scanning of the insulin receptor gene in syndromes of insulin resistance
68. Molecular mechanisms of inherited insulin resistance
69. Recent advances in our understanding of insulin action and insulin resistance
70. Molecular defects of the insulin receptor gene
71. Stimulation of adipogenesis in fibroblasts by PPAR gamma 2, a lipid-activated transcription factor
72. Thiazolidinediones: A new class of antidiabetic drugs
73. Dominant negative mutations in human PPAR associated with severe insulin resistance, diabetes mellitus and hypertension