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

Abstract

These results demonstrate that some dominant mutations of SUR1 can cause diazoxide-unresponsive hyperinsulinism. In vitro expression studies may be helpful in distinguishing such mutations from dominant mutations of SUR1 associated with diazoxide-responsive disease.

References

Page 1

	Year	Citations
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm P. Naresh Kumar, Steven Henikoff, Pauline C. Ng Nature Protocols Protein FunctionFunctional GenomicsNon-synonymous VariantsGene RecognitionGenetics	2009	6.6K
Somatic deletion of the imprinted 11p15 region in sporadic persistent hyperinsulinemic hypoglycemia of infancy is specific of focal adenomatous hyperplasia and endorses partial pancreatectomy. Pascale de Lonlay, Jean Fournet, Jacques Rahier, Journal of Clinical Investigation Somatic DeletionDevelopmental BiologyPancreatic CancerImprinted 11P15Diabetes	1997	304
Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1 Hanna Huopio, Frank Reimann, Rebecca Ashfield, Journal of Clinical Investigation	2000	275
Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews Ann Nestorowicz Human Molecular Genetics Molecular PhysiologyAutoimmune DiseaseAllergyGenetic DisorderAshkenazi Jews	1996	247
A Nonsense Mutation in the Inward Rectifier Potassium Channel Gene, <i>Kir6.2</i>, Is Associated With Familial Hyperinsulinism Ann Nestorowicz, Inagaki Nobuya, Tohru Gonoi, Diabetes	1997	222
Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations Sara E. Pinney, Courtney MacMullen, Susan Becker, Journal of Clinical Investigation	2008	198
Defective trafficking and function of K <sub>ATP</sub> channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy Etienne Cartier, Lisa Conti, Carol A. Vandenberg, Proceedings of the National Academy of Sciences	2001	165
Glycemic response to glucagon during fasting hypoglycemia: An aid in the diagnosis of hyperinsulinism David N. Finegold, Charles A. Stanley, Lester Baker The Journal of Pediatrics Metabolic SyndromeDiabetes ManagementInsulin ManagementDiabetesPhysiology	1980	149
The C Terminus of SUR1 Is Required for Trafficking of KATP Channels Nidhi Sharma, Ana Crane, John P. Clement, Journal of Biological Chemistry	1999	140
Hyperinsulinism in Infancy: Diagnosis by Demonstration of Abnormal Response to Fasting Hypoglycemia Charles A. Stanley, Lester Baker PEDIATRICS NutritionElectrolyte DisorderMetabolic DisorderMetabolic AdaptationObesity	1976	127

Page 1