Article
Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
The New England journal of medicine - 29 Apr 2004
Gloyn Anna L, Pearson Ewan R, Antcliff Jennifer F, Proks Peter, Bruining G Jan, Slingerland Annabelle S, Howard Neville, Srinivasan Shubha, Silva José M C L, Molnes Janne, Edghill Emma L, Frayling Timothy M, Temple I Karen, Mackay Deborah, Shield Julian P H, Sumnik Zdenek, van Rhijn Adrian, Wales Jerry K H, Clark Penelope, Gorman Shaun, Aisenberg Javier, Ellard Sian, Njølstad Pål R, Ashcroft Frances M, Hattersley Andrew T
Abstract excerpt
BACKGROUND: Patients with permanent neonatal diabetes usually present within the first three months of life and require insulin treatment. In most, the cause is unknown. Because ATP-sensitive potassium (K(ATP)) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, we hypothesized that activating mutations in the gene encoding the Kir6.2 subunit of this channel (KCNJ11) cause...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.