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 | |
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All types of insulin resistance caused by mutations of the insulin receptor gene are accompanied by acanthosis nigricans. |
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| 1. |
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| 2. |
Leme CE et al. (1982) Acanthosis nigricans, hirsutism, insulin resistance and insulin receptor defect.
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| 3. |
Rüdiger HW et al. (1983) Familial insulin-resistant diabetes secondary to an affinity defect of the insulin receptor.
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| 4. |
Bar RS et al. (1978) Insulin resistance, acanthosis nigricans, and normal insulin receptors in a young woman: evidence for a postreceptor defect.
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| 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.
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| 6. |
Rüdiger HW et al. (1985) Impaired insulin-induced RNA synthesis secondary to a genetically defective insulin receptor.
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| 7. |
Dash S et al. (2009) A truncation mutation in TBC1D4 in a family with acanthosis nigricans and postprandial hyperinsulinemia.
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| 8. |
Seemanová E et al. (1992) Autosomal dominant insulin resistance syndrome due to postbinding defect.
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| 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.
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| 10. |
Mariani S et al. (1982) Insulin resistance in a child with Acanthosis nigricans type A.
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| 11. |
Grigorescu F et al. (1984) Defect in insulin receptor phosphorylation in erythrocytes and fibroblasts associated with severe insulin resistance.
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| 12. |
Grunberger G et al. (1984) Defect in phosphorylation of insulin receptors in cells from an insulin-resistant patient with normal insulin binding.
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| 13. |
Schwenk WF et al. (1986) Familial insulin resistance and acanthosis nigricans. Presence of a postbinding defect.
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| 14. |
Ojamaa K et al. (1988) Defects in human insulin receptor gene expression.
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| 15. |
Kahn CR et al. (1976) The syndromes of insulin resistance and acanthosis nigricans. Insulin-receptor disorders in man.
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| 16. |
Grigorescu F et al. (1986) Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type A syndrome of insulin resistance.
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| 17. |
Odawara M et al. (1989) Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor.
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| 18. |
OMIM.ORG article Omim 610549
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