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-Reference-Cited by-同舟云学术

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

Published:2006-04-12 Issue:6 Volume:49 Page:1190-1197
ISSN:0012-186X
Container-title:Diabetologia
language:en
Short-container-title:Diabetologia

Author:

Flanagan S. E.,Edghill E. L.,Gloyn A. L.,Ellard S.,Hattersley A. T.

Publisher

Springer Science and Business Media LLC

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00125-006-0246-z.pdf

Reference25 articles.

1. Gloyn AL, Pearson ER, Antcliff JF et al (2004) Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. N Engl J Med 350:1838–1849

2. Gloyn AL, Reimann F, Girard C et al (2005) Relapsing diabetes can result from moderately activating mutations in KCNJ11. Hum Mol Genet 14:925–934

3. Yorifuji T, Nagashima K, Kurokawa K et al (2005) The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or later-onset, apparently type 2 diabetes mellitus. J Clin Endocrinol Metab 90:3174–3178

4. Massa O, Iafusco D, D’Amato E et al (2005) KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum Mutat 25:22–127

5. Hattersley AT, Ashcroft FM (2005) Activating mutations in Kir6.2 and neonatal diabetes: new clinical syndromes, new scientific insights, and new therapy. Diabetes 54:2503–2513

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