Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.

@article{Gloyn2004ActivatingMI,
  title={Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes.},
  author={Anna L Gloyn and Ewan Robert Pearson and Jennifer F Antcliff and Peter Proks and G. Jan Bruining and Annabelle S. Slingerland and Neville Howard and Shubha Srinivasan and Jos{\'e} M C L Silva and Janne Molnes and Emma L. Edghill and Timothy M. Frayling and Isabelle Karen Temple and Deborah J G Mackay and Julian P. H. Shield and Zdenek Sumnik and Adrian van Rhijn and Jerry K. H. Wales and Penelope Clark and Shaun Gorman and Javier Aisenberg and Sian Ellard and P{\aa}l R. Nj\olstad and Frances M. Ashcroft and Andrew T Hattersley},
  journal={The New England journal of medicine},
  year={2004},
  volume={350 18},
  pages={1838-49}
}
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 neonatal diabetes. METHODS We sequenced the KCNJ11 gene in 29 patients with permanent… CONTINUE READING
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