DETECTION OF AN ALTERATION IN THE INSULIN-RECEPTOR GENE IN A PATIENT WITH INSULIN RESISTANCE, ACANTHOSIS NIGRICANS, AND THE POLYCYSTIC OVARY SYNDROME (TYPE-A INSULIN RESISTANCE)
DETECTION OF AN ALTERATION IN THE INSULIN-RECEPTOR GENE IN A PATIENT WITH INSULIN RESISTANCE, ACANTHOSIS NIGRICANS, AND THE POLYCYSTIC OVARY SYNDROME (TYPE-A INSULIN RESISTANCE)
复制标题
DOI：
10.1056/nejm198812083192306
复制
发表时间：
1988-12-08
影响因子：
158.5
通讯作者：
FLIER, JS
中科院分区：
文献类型：
--
作者：
MOLLER, DE;FLIER, JS
严重的胰岛素抵抗是许多临床多样化综合征的中心代谢特征，1包括A型综合征(年轻女性患者有胰岛素抵抗、黑棘皮病和男性化)，2早幼症，3拉普森-门登霍尔综合征，4和脂托品糖尿病。5从这些疾病的患者新鲜获得的细胞中显示胰岛素受体表达或功能降低。2,6789家族性聚集性的存在和培养细胞系中存在缺陷7,101112使人们认为这些疾病中的受体缺陷可能是主要的。正常人胰岛素互补DNA(CDNAs)的克隆
SEVERE insulin resistance is the central metabolic feature of a number of clinically diverse syndromes,1including the type A syndrome (young female patients with insulin resistance, acanthosis nigricans, and virilization),2leprechaunism,3the Rabson–Mendenhall syndrome,4and lipoatropic diabetes.5A reduced expression or function of insulin receptors has been demonstrated in freshly obtained cells from a number of patients with these diseases.2,6789The existence of familial clusterings and the presence of defects in cultured cell lines7,101112have led to the view that receptor defects in these disorders may be primary. The cloning of the complementary DNA (cDNA) of the normal human insulin . . .