Diabetes mellitus with insulin resistance and acanthosis nigricans is an autosomal recessive or dominant disorder caused by loss-of-function mutations of the insulin receptor gene.
Acanthosis nigricans | |
All types of insulin resistance caused by mutations of the insulin receptor gene are accompanied by acanthosis nigricans. |
Insulin resistance | ||||
CIDEC | ||||
Diabetes mellitus with insulin resistance and acanthosis nigricans | ||||
INSR | ||||
ENPP1 | ||||
IRS1 | ||||
IRS2 | ||||
PPARG | ||||
1. |
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2. |
Leme CE et al. (1982) Acanthosis nigricans, hirsutism, insulin resistance and insulin receptor defect. |
3. |
Rüdiger HW et al. (1983) Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor. |
4. |
Bar RS et al. (1978) Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect. |
5. |
Prince MJ et al. (1986) Functional characteristics of decreased insulin receptors on fibroblasts obtained from a subject with severe insulin resistance and acanthosis nigricans. |
6. |
Rüdiger HW et al. (1985) Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor. |
7. |
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8. |
Seemanová E et al. (1992) Autosomal dominant insulin resistance syndrome due to postbinding defect. |
9. |
Moller DE et al. (1994) Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. |
10. |
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11. |
Grigorescu F et al. (1984) Defect in insulin receptor phosphorylation in erythrocytes and fibroblasts associated with severe insulin resistance. |
12. |
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13. |
Schwenk WF et al. (1986) Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect. |
14. |
Ojamaa K et al. (1988) Defects in human insulin receptor gene expression. |
15. |
Kahn CR et al. (1976) The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man. |
16. |
Grigorescu F et al. (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance. |
17. |
Odawara M et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. |
18. |
OMIM.ORG article Omim 610549 |