Edghill, Emma L.

Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes

Gloyn, A. L., Pearson, E. R., Antcliff, J. F., Proks, P., Bruining, G. J., Slingerland, A. S., Howard, N., Srinivasan, S., Silva, J. M. C. L., Molnes, J., et al. (2004) · New England Journal of Medicine

Pancreatic function and diabetesIon channel regulation and function

Cited by 1,137

Insulin gene mutations as a cause of permanent neonatal diabetes

Støy, J., Edghill, E. L., Flanagan, S. E., Ye, H., Paz, V. P., Pluzhnikov, A., Below, J. E., Hayes, M. G., Cox, N. J., Lipkind, G. M., et al. (2007) · Proceedings of the National Academy of Sciences

Pancreatic function and diabetesDiabetes and associated disorders

Cited by 564

Insulin Mutation Screening in 1,044 Patients With Diabetes

Edghill, E. L., Flanagan, S. E., Patch, A.-M., Boustred, C., Parrish, A., Shields, B., Shepherd, M. H., Hussain, K., Kapoor, R. R., Malecki, M., et al. (2008) · Diabetes

Diabetes and associated disordersPancreatic function and diabetes

Cited by 397

Permanent neonatal diabetes caused by dominant, recessive, or compound heterozygous SUR1 mutations with opposite functional effects

Ellard, S., Flanagan, S. E., Girard, C. A., Patch, A.-M., Harries, L. W., Parrish, A., Edghill, E. L., Mackay, D. J. G., Proks, P., Shimomura, K., et al. (2007) · The American Journal of Human Genetics

Pancreatic function and diabetesIon channel regulation and function

Cited by 215

Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis

Garin, I., Edghill, E. L., Akerman, I., Rubio-Cabezas, O., Rica, I., Locke, J. M., Maestro, M. A., Alshaikh, A., Bundak, R., del Castillo, G., et al. (2010) · Proceedings of the National Academy of Sciences

Pancreatic function and diabetesDiabetes and associated disorders

Cited by 211