Article
Gene expression in human cells with mutant insulin receptors.
Biochemical and biophysical research communications - 8 Aug 2003
Melis Roberta, Pruett Paul B, Wang Yuhuan, Longo Nicola
Abstract excerpt
Insulin initiates its action by interacting with specific receptors on the plasma membrane of target cells. Mutations in these receptors cause the inherited insulin-resistant syndrome leprechaunism. Affected patients have severe intrauterine and post-natal growth restriction coupled with severe metabolic abnormalities. Fibroblasts from patients with leprechaunism have impaired in vitro growth, reflecting the...
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