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Diazoxide-Unresponsive Congenital Hyperinsulinism in Children With Dominant Mutations of the β-Cell Sulfonylurea Receptor SUR1

By Courtney M. MacMullen, Qing Zhou, Kara E. Snider, Paul H. Tewson, Susan A. Becker, Ali Rahim Aziz, Arupa Ganguly, Show-Ling Shyng and Charles A. Stanley
Topics: Genetics
Publisher: American Diabetes Association
OAI identifier: oai:pubmedcentral.nih.gov:3114386
Provided by: PubMed Central

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  1. A method and server for predicting damaging missense mutations.
  2. (1997). A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.
  3. A novel ABCC8 (SUR1)-dependent mechanism of metabolismexcitation uncoupling.
  4. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.
  5. (2011). Congenital hyperinsulinism-associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K + channels: identification and rescue.
  6. Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.
  7. (2010). Dominantly acting ABCC8 mutations in patients with medically unresponsive hyperinsulinaemic hypoglycaemia.
  8. Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.
  9. (2011). Exendin-(9-39) corrects fasting hypoglycemia in SUR-1-/- mice by lowering cAMP in pancreatic beta-cells and inhibiting insulin secretion.
  10. Glycemic response to glucagon during fasting hypoglycemia: an aid in the diagnosis of hyperinsulinism.
  11. Hyperinsulinism in infancy: diagnosis by demonstration of abnormal response to fasting hypoglycemia.
  12. Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels.
  13. (2007). Mechanisms of disease: advances in diagnosis and treatment of hyperinsulinism in neonates. Nat Clin Pract Endocrinol Metab
  14. (1999). Molecular biology of adenosine triphosphatesensitive potassium channels. Endocr Rev
  15. (1996). Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet
  16. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm.
  17. (1997). Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy.
  18. Sur1 knockout mice. A model for K(ATP) channel-independent regulation of insulin secretion.
  19. Topology prediction of helical transmembrane proteins: how far have we reached? Curr Protein Pept Sci
  20. Transmembrane topology of the sulfonylurea receptor SUR1.