Progressive decline in insulin levels in Rabson-Mendenhall syndrome

Journal of Clinical Endocrinology and Metabolism

Volumn 84, Issue 8, 1999, Pages 2623-2629

  Longo, Nicola ^a   Wang, Yuhuan ^a   Pasquali, Marzia ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN RECEPTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BETA CHAIN; CASE REPORT; GLUCOSE BLOOD LEVEL; HUMAN; HYPERGLYCEMIA; HYPOGLYCEMIA; HYPOINSULINEMIA; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; KETOACIDOSIS; LEPRECHAUNISM; MALE; MISSENSE MUTATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RABSON MENDENHALL SYNDROME;

EID: 0033328136     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.84.8.2623     Document Type: Article

References (44)

1. The human insulin receptor cDNA: The structural basis for hormone-activated transmembrane signaling
2. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes
3. The insulin signaling system
4. Structure of the insulin receptor gene and characterization of its promoter
5. Lilly Lecture: Molecular mechanisms of insulin resistance
6. Mutations in the insulin receptor and their effect on glucose transport
7. Molecular defects of the insulin receptor gene
8. Glucose kinetics in leprechaunism: Accelerated fasting due to insulin resistance
9. Hepatic ultrastructure in leprechaunism
10. Early neonatal death in mice homozygous for a null allele of the insulin receptor
11. Targeted disruption of the insulin receptor gene in the mouse results in neonatal lethality
12. Impaired growth in Rabson-Mendenhall syndrome: Lack of effect of growth hormone and insulin-like growth factor I
13. Gas-chromatographic method of analysis for urinary organic acids. II. Description of the procedure, and its application to diagnosis of patients with organic acidurias
14. Reduced mRNA and a nonsense mutation in the insulin receptor gene produce heritable severe insulin resistance
15. Activation of glucose transport by a natural mutation in the human insulin receptor
16. Gas chromatographic profiling of ketone bodies and organic acids in diabetes
17. Crystal structure of the tyrosine kinase domain of the human insulin receptor
18. Activating mutations for the met tyrosine kinase receptor in human cancer
19. Substitution of glutamine for arginine 1131. A newly identified mutation in the catalytic loop of the tyrosine kinase domain of the human insulin receptor
20. Two naturally occurring mutant insulin receptors phosphorylate insulin receptor substrate I (IRS-1), but fail to mediate the biological effects of insulin
21. Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia
22. Familial insulin resistance with pineal hyperplasia: Metabolic studies and effect of hypophysectomy
23. Functional activation of mutant insulin receptor by monoclonal antibody
24. 284→Tyr) in the insulin receptor α-subunit
25. Type 2 diabetes: Who is conducting the orchestra?
26. A severe form of leprechaunism caused by two null alleles for the insulin receptor
27. Homozygous deletion of the human insulin receptor gene results in leprechaunism
28. Homozygosity for a null allele of the insulin receptor gene in a patient with leprechaunism
29. Growth-promoting interaction of IGF-II with the insulin receptor during mouse embryonic development
30. Hypoglycemic effect of IGF-I in mice lacking insulin receptors
31. Long-term effect of recombinant IGF-I on metabolic and growth control in a patient with leprechaunism
32. In vivo metabolic effects of IGF-I not mediated through the insulin receptor
33. Leprechaunism: Studies of the relationship among hyperinsulinism, insulin resistance, and growth retardation
34. Improper expression of insulin receptors on fibroblasts from a leprechaun patient
35. Fluctuation on insulin resistance in a leprechaun patient with a primary defect in insulin binding
36. Role of glucose and insulin resistance in development of type 2 diabetes mellitus: Results of a 25-years follow up study
37. The natural history of impaired glucose tolerance in the Pima Indians
38. Sequential changes in serum insulin concentration during development of non-insulin dependent diabetes mellitus
39. Pancreatic A and B cell hyperfunction in the Menderthall syndrome
40. Type 2 diabetes: When insulin secretion fails to compensate
41. Alternative pathway of insulin signaling in mice with targeted disruption of the IRS-1 gene
42. Disruption of IRS-2 causes type 2 diabetes
43. Development of non-insulin-dependent diabetes mellitus in the double knockout mice with disruption of insulin receptor substrate-1 and β cell glucokinase genes. Genetic reconstitution of diabetes as a polygenic disease
44. Tissue-specific knockout of the insulin receptor in panceatic β cells creates an insulin secretory defect similar to that in type 2 diabetes