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={A. Gloyn and E. Pearson and Jennifer F. Antcliff and P. Proks and G. Bruining and A. S. Slingerland and Neville J. Howard and S. Srinivasan and Jose M. C. L Silva and J. Molnes and E. L. Edghill and T. Frayling and I. Temple and D. Mackay and J. Shield and Z. {\vS}umn{\'i}k and A. V. van Rhijn and J. Wales and P. Clark and S. Gorman and J. Aisenberg and S. Ellard and P. Nj{\o}lstad and F. Ashcroft and A. 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… Expand
Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.
Mutations in the Kir6.2 subunit of the KATP channel and permanent neonatal diabetes: New insights and new treatment
Expression of an activating mutation in the gene encoding the KATP channel subunit Kir6.2 in mouse pancreatic beta cells recapitulates neonatal diabetes.
The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 44 REFERENCES
Diabetes and insulin secretion: whither KATP?
  • C. Nichols, J. Koster
  • Biology, Medicine
  • American journal of physiology. Endocrinology and metabolism
  • 2002
...
1
2
3
4
5
...