文章基本信息

标题：Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance
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作者：E E Schilling ; M M Rechler ; C Grunfeld 等
期刊名称：Proceedings of the National Academy of Sciences
印刷版ISSN：0027-8424
电子版ISSN：1091-6490
出版年度：1979
卷号：76
期号：11
页码：5877-5881
DOI：10.1073/pnas.76.11.5877
语种：English
出版社：The National Academy of Sciences of the United States of America
摘要：Insulin binding to insulin receptors, on skin fibroblasts established in culture from an infant with insulin resistance and clinical features of leprechaunism was markedly decreased in comparison with cultures from an age-matched control. By contrast, the binding of epidermal growth factor, a polypeptide growth factor chemically unrelated to insulin, to patient's and control fibroblasts was indistinguishable. The selective defect in insulin binding to patient's fibroblasts was reflected in an impaired ability of insulin to stimulate 2-deoxyglucose uptake. These results most likely indicate a primary genetic defect of insulin receptors.