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A型胰岛素抵抗综合征与胰岛素受体 被引量:8

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摘要 A型胰岛素抵抗综合征是一种胰岛素受体基因突变导致的极度胰岛素抵抗状态,好发于青年女性,临床主要表现为糖耐量异常或糖尿病,同时伴有内源性高胰岛素血症,严重的胰岛素抵抗,黑棘皮样变和高雄激素血症。本文对该疾病的基因突变、临床表现和诊治作一综述。
出处 《中华实用诊断与治疗杂志》 2010年第2期105-108,共4页 Journal of Chinese Practical Diagnosis and Therapy
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参考文献32

  • 1Tang F, Yan C, Li F, et al. Protective effects of insulin on polychlorinatcd biphenyls induced disruption of actin cytoskeleton in hippocampal neurons[J]. Environ Toxicol,2007,22(2):152- 158.
  • 2Taylor S I, Kadowaki T, Kadowaki H, et al. Mutations in insulin receptor gene in insulin-resistant patients [J].Diabetes Care, 1990,13(3) : 257-279.
  • 3Grigorescu F, Herzberg V, King G, et al. Defects in insulin binding and autophosphorylation of erythrocyte insulin receptors in patients with syndromes of severe insulin resistance and their parents[J]. J ClinEndocrinol Metab,1987,64(3):549- 556.
  • 4Magre J, Karayanni C, Hadjiathanasiou C G, et al. Dominant transmission of insulin resistance in a type A family resulting from a heterozygous nonsense mutation in the insulin receptor gene and associated with decreased mRNA level and insulin binding sites[J]. Diabetes, 1997,46(11):1901-1903.
  • 5Kadowaki T, Kadowaki H, Taylor S I. A nonsense mutation causing decreased levels of insulin receptor mRNA: detection by a simplified technique for direct sequencing of genomic DNA amplified by the polymerase chain reaction[J].Proc Natl Acad Sci USA, 1990,87(2) :658 -662.
  • 6Romos R R, Swanson A J, Bass J. Calreticulin and Hsp90 stabilize the human insulin receptor and promote its mobility in the endoplasmic reticulum[J]. Proc Natl Acad Sci USA, 2007, 104 (25) : 10470-10475.
  • 7Scarlett J A, Kolterman O G, Moore P, et al. Insulin resistance and diabetes due to a genetic defect in insulin receptors[J].J Clin Endocrinol Metab, 1982,55(1) :123-131.
  • 8Kadowaki T, Kadowaki H, Accili D, et al. Substitution of lysine for asparagine at position 15 in the alpha subunit of the human insulin receptor. A mutation that impairs transport of receptors to the cell surface and decreases the affinity of insulin binding [J]. J BiolChem,1990,265(31):19143-19150.
  • 9Grigorescu F, Flier J S, Kahn C R. Characterization of binding and phosphorylation defects of erythrocyte insulin receptors in the type Asyndrome of insulin resistance[J]. Diabetes,1986,35 (2):127-138.
  • 10Moiler D E, Yokota A, White M F, et al. A naturally occurring mutation of insulin receptor alanine 1134 impairs tyrosine kinase function and is associated with dominantly inherited insulin resistance[J]. J Biol Chem, 1990, 265 (25) 14979- 14985.

二级参考文献13

  • 1Moller DE, Yokota A, Caro JF, et al. Tissue-specific expression of two alternatively spliced insulin receptor mRNAs in man. Mol Endocrinol, 1989,3:1263-1269.
  • 2Yoshimasa Y, Seino S, Whittaker J, et al. Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing. Science, 1988,240:784-787.
  • 3Kadowaki T, Bevins CL, Cama A, et al. Two mutant alleles of the insulin receptor gene in a patient with extreme insulin resistance. Science, 1988,240:787-790.
  • 4Seino S, Seino M, Bell GI. Human insulin-receptor gene. Partial sequence and amplification of exons by polymerase chain reaction. Diabetes, 1990,39:123-128.
  • 5Whitehead JP, Soons MA, Jackson R, et al. Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. Diabetes, 1998,47:1362-1364.
  • 6Longo N, Wang Y, Smith SA, et al. Genotype-phenotype correlation in inherited severe insulin resistance. Hum Mol Genet, 2002,11:1465-1475.
  • 7Moller DE, Cohen O, Yamaguchi Y, et al. Prevalence of mutations in the insulin receptor gene in subjects with features of the type A syndrome of insulin resistance. Diabetes, 1994,43:247-255.
  • 8Kadowaki T, Kadowaki H, Rechler MM, et al. Five mutant alleles of the insulin receptor gene in patients with genetic forms of insulin resistance. J Clin Invest, 1990,86:254-264.
  • 9Kusari J, Takata Y, Hatada E, et al. Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. J Biol Chem, 1991,266:5260-5267.
  • 10Ullrich A, Bell JR, Chen EY, et al. Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes. Nature, 1985,313:756-761.

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