Origin of de novo KCNJ11 mutations and risk of neonatal diabetes for subsequent siblings.

Gelijkaardige items

• 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.
  door: Flanagan, SE, et al.
  Gepubliceerd in: (2006)
• 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.
  door: Gloyn, A, et al.
  Gepubliceerd in: (2004)
• KCNJ11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome and other neurological features.
  door: Gloyn, A, et al.
  Gepubliceerd in: (2006)
• Relapsing diabetes can result from moderately activating mutations in KCNJ11.
  door: Gloyn, A, et al.
  Gepubliceerd in: (2005)
• Neonatal diabetes caused by homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensititvity markedly affect diabetes risk
  door: Vedovato, N, et al.
  Gepubliceerd in: (2016)