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ATP敏感性钾通道Kir6.2激活突变与永久性新生儿糖尿病 被引量:1

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作者 赵红 刘戈力
出处 《中国实用儿科杂志》 CSCD 北大核心 2008年第5期394-397,共4页 Chinese Journal of Practical Pediatrics
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参考文献19

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二级参考文献25

  • 1Wolfsdorf JI.Hyperinsulinemic hypoglycemia of infancy.J Pediatr,1998,132:1-3.
  • 2Glaser B,Chiu KC,Anker R,et al.Familial hyperinsulinism maps to chromosome 11p14-15.1,30 cM centromeric to the insulin gene.Nat Genet,1994,7:185-188.
  • 3Thomas PM,Cote GJ,Hallman DM,et al.Homozygosity mapping,to chromosome 11p,of the gene for familial persistent hyperinsulinemic hypoglycemia of infancy.Am J Hum Genet,1995,56:416-421.
  • 4Thomas PM,Cote GJ,Wohllk N,et al.Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy.Science,1995,268:426-429.
  • 5Nestorowicz A,Wilson BA,Schoor KP,et al.Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.Hum Mol Genet,1996,5:1813-1822.
  • 6Dunne M J,Cosgrove KE,Shepherd RM,et al.Hyperinsulinism in infancy:from basic science to clinical disease.Physiol Rev,2004,84:239-275.
  • 7Thomas PM,Wohllk N,Huaug E,et al.Inactivation of the first nucleotide-binding fold of the sulfonylurea receptor,and familial persisteut hyperinsulinemic hypoglycemia of infancy.Am J Hum Genet,1996,59:510-518.
  • 8Nichols CG,Shyng SL,Nestorowicz A,et al.Adenosine diphosphate as an intracellular regulator of insulin secretion.Science,1996,272:1785-1787
  • 9Aguilar-Bryan L,Bryan J.Molecular biology of adenosine triphosphatesensitive potassium channels.Endocr Rev,1999,20:101-135.
  • 10Thomas P,Ye Y,Lightner E.Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy.Hum Mol Genet,1996,5:1809-1812.

共引文献1

同被引文献15

  • 1Hamilton-Shield JP. Overview of neonatal diabetes. Endocr Dev, 2007, 12 : 12-23.
  • 2Flanagan SE, Edghill EL, Gloyn AL, et al. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia, 2006, 49 : 1190-1197.
  • 3Flanagan SE, Patch AM, Mackay D J, et al. Mutations in ATP- sensitive K + channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes, 2007, 56 : 1930-1937.
  • 4Rubio-Cabezas O, Klupa T, Maleeki MT. Permanent neonatal diabetes mellitus-the importance of diabetes differential diagnosis in neonates and infants. Eur J Clin Invest, 2011,41:323-333.
  • 5Gloyn AL, Pearson ER, Antcliff JF, et al. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med, 2004, 350 : 1838-1849.
  • 6Babenko AP, Polak M, Cave H, et al. Activating mutations in the ABCC8 gene in neonatal diabetes mellitus. N Engl J Med, 2006, 355:456-466.
  • 7Gloyn AL, Diatloff-Zito C, Edghill EL, et al. KCNJll activating mutations are associated with developmental delay, epilepsy andneonatal diabetes syndrome and other neurological features. Eur J Hum Genet, 2006, 14:824-830.
  • 8Greeley SA, Tucker SE, Naylor RN, et al. Neonatal diabetes mellitus: a model for personalized medicine. Trends Endocrinol Metab, 2010, 21: 464-472.
  • 9Arnoux JB, de Lonlay P, Ribeiro MJ, et al. Congenital hyperinsulinism. Early Hum Dev, 2010, 86: 287-294.
  • 10Craig TJ, Shimomura K, I-Ioll RW, et al. An in-frame deletion in Kit6.2 (KCNJll) causing neonatal diabetes reveals a site of interaction between Kit6.2 and SUR1. J Clin Endocrinol Metab, 2009, 94:2551-2557.

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