Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant K(ATP )channel mutations

Podobne zapisy

• A NOVEL KCNJ11 MUTATION ASSOCIATED WITH CONGENITAL HYPERINSULINISM REDUCES THE INTRINSIC OPEN PROBABILITY OF β-CELL ATP-SENSITIVE POTASSIUM CHANNELS
  od: Lin, Yu-Wen, i wsp.
  Wydane: (2005)
• Congenital Hyperinsulinism–Associated ABCC8 Mutations That Cause Defective Trafficking of ATP-Sensitive K(+) Channels: Identification and Rescue
  od: Yan, Fei-Fei, i wsp.
  Wydane: (2007)
• Destabilization of ATP-sensitive Potassium Channel Activity by Novel KCNJ11 Mutations Identified in Congenital Hyperinsulinism
  od: Lin, Yu-Wen, i wsp.
  Wydane: (2008)
• Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the β-Cell Sulfonylurea Receptor SUR1
  od: MacMullen, Courtney M., i wsp.
  Wydane: (2011)
• Novel dominant K(ATP) channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotyping
  od: Boodhansingh, Kara E., i wsp.
  Wydane: (2019)