在编码Kir6.2的KCNJ11基因中鉴定出R201H突变，并成功将一名患有新生儿糖尿病的受试者转换为缓释磺脲类药物治疗：R201H突变携带者中β细胞功能异质性的证据。 - Suppr

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超能文献

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.

作者信息

Klupa T, Edghill E L, Nazim J, Sieradzki J, Ellard S, Hattersley A T, Malecki M T

出版信息

Diabetologia. 2005 May;48(5):1029-31. doi: 10.1007/s00125-005-1731-5. Epub 2005 Apr 19.

DOI:10.1007/s00125-005-1731-5

PMID:15838686

Abstract

摘要

相似文献

The identification of a R201H mutation in KCNJ11, which encodes Kir6.2, and successful transfer to sustained-release sulphonylurea therapy in a subject with neonatal diabetes: evidence for heterogeneity of beta cell function among carriers of the R201H mutation.在编码Kir6.2的KCNJ11基因中鉴定出R201H突变，并成功将一名患有新生儿糖尿病的受试者转换为缓释磺脲类药物治疗：R201H突变携带者中β细胞功能异质性的证据。

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本文引用的文献

Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.在2岁前诊断出的临床定义的1型糖尿病中，编码ATP敏感性钾通道亚基Kir6.2的KCNJ11基因的激活突变很少见。

Diabetes. 2004 Nov;53(11):2998-3001. doi: 10.2337/diabetes.53.11.2998.

Diabetes. 2004 Oct;53(10):2713-8. doi: 10.2337/diabetes.53.10.2713.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.编码ATP敏感性钾通道亚基Kir6.2的基因中的激活突变与永久性新生儿糖尿病

N Engl J Med. 2004 Apr 29;350(18):1838-49. doi: 10.1056/NEJMoa032922.

Neonatal and very-early-onset diabetes mellitus.新生儿及极早发型糖尿病

Semin Neonatol. 2004 Feb;9(1):59-65. doi: 10.1016/S1084-2756(03)00064-2.

Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes.对编码胰腺β细胞KATP通道亚基Kir6.2（KCNJ11）和SUR1（ABCC8）的基因变异进行的大规模关联研究证实，KCNJ11 E23K变异与2型糖尿病相关。

Diabetes. 2003 Feb;52(2):568-72. doi: 10.2337/diabetes.52.2.568.

Maturity-onset diabetes of the young: clinical heterogeneity explained by genetic heterogeneity.青年发病的成年型糖尿病：由基因异质性解释的临床异质性

Diabet Med. 1998 Jan;15(1):15-24. doi: 10.1002/(SICI)1096-9136(199801)15:1<15::AID-DIA562>3.0.CO;2-M.

Comparative efficacy of a once-daily controlled-release formulation of glipizide and immediate-release glipizide in patients with NIDDM.格列吡嗪控释制剂每日一次与速释格列吡嗪治疗非胰岛素依赖型糖尿病患者的疗效比较

Diabetes Care. 1994 Dec;17(12):1460-4. doi: 10.2337/diacare.17.12.1460.

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