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.

Míreanna comhchosúla

• Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2 years.
  de réir: Edghill, E, et al.
  Foilsithe / Cruthaithe: (2004)
• An in-frame deletion in Kir6.2 (KCNJ11) causing neonatal diabetes reveals a site of interaction between Kir6.2 and SUR1.
  de réir: Craig, T, et al.
  Foilsithe / Cruthaithe: (2009)
• Permanent neonatal diabetes due to paternal germline mosaicism for an activating mutation of the KCNJ11 Gene encoding the Kir6.2 subunit of the beta-cell potassium adenosine triphosphate channel.
  de réir: Gloyn, A, et al.
  Foilsithe / Cruthaithe: (2004)
• Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism.
  de réir: Gloyn, A, et al.
  Foilsithe / Cruthaithe: (2006)
• Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism.
  de réir: Flanagan, SE, et al.
  Foilsithe / Cruthaithe: (2009)