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Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.
Anna L Gloyn
1 ,
Ewan R Pearson ,
Jennifer F Antcliff ,
Peter Proks ,
G Jan Bruining ,
Annabelle S Slingerland ,
Neville Howard ,
Shubha Srinivasan ,
José M C L Silva ,
Janne Molnes ,
Emma L Edghill ,
Timothy M Frayling ,
I Karen Temple ,
Deborah Mackay ,
Julian P H Shield ,
Zdenek Sumnik ,
Adrian van Rhijn ,
Jerry K H Wales ,
Penelope Clark ,
Shaun Gorman ,
Javier Aisenberg ,
Sian Ellard ,
Pål R Njølstad ,
Frances M Ashcroft ,
Andrew T Hattersley
Apr 29 2004
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Abstract
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 neonatal diabetes.