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Insulin resistance due to mutations of the insulin receptor gene: an overview.

作者信息

Accili D, Cama A, Barbetti F, Kadowaki H, Kadowaki T, Taylor S I

机构信息

Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892.

出版信息

J Endocrinol Invest. 1992 Dec;15(11):857-64. doi: 10.1007/BF03348820.

DOI:10.1007/BF03348820
PMID:1291599
Abstract
摘要

相似文献

1
Insulin resistance due to mutations of the insulin receptor gene: an overview.
J Endocrinol Invest. 1992 Dec;15(11):857-64. doi: 10.1007/BF03348820.
2
[Mutations in the insulin receptor gene in patients with genetic forms of insulin resistance].[遗传性胰岛素抵抗患者胰岛素受体基因的突变]
Nihon Rinsho. 1991 Feb;49 Suppl:721-30.
3
Mutations in the insulin receptor gene in genetic forms of insulin resistance.遗传性胰岛素抵抗中胰岛素受体基因的突变。
Recent Prog Horm Res. 1990;46:185-213; discussion 213-7. doi: 10.1016/b978-0-12-571146-3.50011-0.
4
Two related cases of type A insulin resistance with compound heterozygous mutations of the insulin receptor gene.两例胰岛素受体基因复合杂合突变的A型胰岛素抵抗相关病例。
Diabetes Res Clin Pract. 2009 Mar;83(3):e75-7. doi: 10.1016/j.diabres.2008.12.002. Epub 2009 Jan 9.
5
Unusual forms of insulin resistance.
Annu Rev Med. 1991;42:373-9. doi: 10.1146/annurev.me.42.020191.002105.
6
Mutations in the insulin receptor gene in patients with genetic syndromes of insulin resistance.胰岛素抵抗遗传综合征患者胰岛素受体基因的突变
Adv Exp Med Biol. 1991;293:197-213. doi: 10.1007/978-1-4684-5949-4_19.
7
Hybrid insulin receptors. Molecular mechanisms of negative-dominant mutations in receptor-mediated insulin resistance.杂交胰岛素受体。受体介导的胰岛素抵抗中负显性突变的分子机制。
Diabetes Care. 1990 Jun;13(6):576-81. doi: 10.2337/diacare.13.6.576.
8
Mutant insulin receptors in syndromes of insulin resistance.胰岛素抵抗综合征中的突变胰岛素受体。
Clin Endocrinol (Oxf). 1992 Feb;36(2):121-32. doi: 10.1111/j.1365-2265.1992.tb00945.x.
9
[Severe type A insulin resistance syndrome due to a mutation in the insulin receptor gene].胰岛素受体基因突变所致的重度A型胰岛素抵抗综合征
An Pediatr (Barc). 2015 Jan;82(1):e30-4. doi: 10.1016/j.anpedi.2014.03.008. Epub 2014 Jul 12.
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Identification of a novel insulin receptor gene heterozygous mutation in a patient with type A insulin resistance syndrome.在一名A型胰岛素抵抗综合征患者中鉴定出一种新的胰岛素受体基因杂合突变。
J Pediatr Endocrinol Metab. 2014 May;27(5-6):561-4. doi: 10.1515/jpem-2013-0284.

引用本文的文献

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Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics.精准医学和大数据时代的胰岛素认识：基因组学的未探索本质。
Biomolecules. 2023 Jan 30;13(2):257. doi: 10.3390/biom13020257.
2
Genetics in endocrinology: genetic forms of severe insulin resistance: what endocrinologists should know.内分泌学中的遗传学：严重胰岛素抵抗的遗传形式：内分泌学家应该了解的内容。
Eur J Endocrinol. 2013 Sep 12;169(4):R71-80. doi: 10.1530/EJE-13-0327. Print 2013 Oct.
3
Human genetics illuminates the paths to metabolic disease.

本文引用的文献

1
Familial hypertrophy of pineal body, hyperplasia of adrenal cortex and diabetes mellitus; report of 3 cases.松果体家族性肥大、肾上腺皮质增生与糖尿病；3例报告。
Am J Clin Pathol. 1956 Mar;26(3):283-90. doi: 10.1093/ajcp/26.3.283.
2
Qualitative abnormalities in insulin binding in a patient with extreme insulin resistance: decreased sensitivity to alterations in temperature and pH.一名极端胰岛素抵抗患者胰岛素结合的定性异常：对温度和pH值变化的敏感性降低。
Proc Natl Acad Sci U S A. 1981 Nov;78(11):7157-61. doi: 10.1073/pnas.78.11.7157.
3
A case of leprechaunism with severe hyperinsulinemia.
人类遗传学为代谢性疾病的研究指明了方向。
Nature. 2009 Nov 19;462(7271):307-14. doi: 10.1038/nature08532.
4
Modulation of insulin action.胰岛素作用的调节
Diabetologia. 2004 Feb;47(2):170-84. doi: 10.1007/s00125-003-1313-3. Epub 2004 Jan 13.
一例伴有严重高胰岛素血症的妖精貌综合征。
Am J Dis Child. 1980 Feb;134(2):170-5. doi: 10.1001/archpedi.1980.02130140044014.
4
Gene for human insulin receptor: localization to site on chromosome 19 involved in pre-B-cell leukemia.人胰岛素受体基因：定位于19号染色体上与前B细胞白血病相关的位点。
Science. 1985 May 10;228(4700):728-31. doi: 10.1126/science.3873110.
5
A mutant insulin receptor with defective tyrosine kinase displays no biologic activity and does not undergo endocytosis.具有缺陷型酪氨酸激酶的突变胰岛素受体不显示生物活性，也不发生内吞作用。
J Biol Chem. 1987 Oct 25;262(30):14663-71.
6
Insulin-resistant diabetes due to a point mutation that prevents insulin proreceptor processing.由阻止胰岛素原受体加工的点突变导致的胰岛素抵抗性糖尿病。
Science. 1988 May 6;240(4853):784-7. doi: 10.1126/science.3283938.
7
Human insulin receptors mutated at the ATP-binding site lack protein tyrosine kinase activity and fail to mediate postreceptor effects of insulin.在ATP结合位点发生突变的人胰岛素受体缺乏蛋白酪氨酸激酶活性，无法介导胰岛素的受体后效应。
J Biol Chem. 1987 Feb 5;262(4):1842-7.
8
Banting lecture 1988. Role of insulin resistance in human disease.1988年班廷讲座。胰岛素抵抗在人类疾病中的作用。
Diabetes. 1988 Dec;37(12):1595-607. doi: 10.2337/diab.37.12.1595.
9
Human insulin receptor and its relationship to the tyrosine kinase family of oncogenes.人胰岛素受体及其与癌基因酪氨酸激酶家族的关系。
Nature. 1985;313(6005):756-61. doi: 10.1038/313756a0.
10
Structure of the human insulin receptor gene and characterization of its promoter.人胰岛素受体基因的结构及其启动子的特性
Proc Natl Acad Sci U S A. 1989 Jan;86(1):114-8. doi: 10.1073/pnas.86.1.114.