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A Novel de novo Mutation at ABCC8 Gene in a Newborn with Transient Diabetes Mellitus

Bolu, S. (2019) · Türk Pediatri Arşivi · doi:10.14744/turkpediatriars.2019.01336

Análise genético-molecular por sequenciamento paralelo em larga escala de portadores das formas raras de diabetes monogênico e lipodistrofias hereditárias

Costa‐Riquetto, A. D. (2019) · Digital Library of Theses and Dissertations (Universidade de São Paulo) · doi:10.11606/d.5.2019.tde-11072019-092733

New insights into KATP channel gene mutations and neonatal diabetes mellitus

Pipatpolkai, T., Usher, S., Stansfeld, P. J., & Ashcroft, F. (2020) · Yearbook of pediatric endocrinology · doi:10.1530/ey.17.2.13

Local Signaling Microdomains in Excitable Cells: Defining Novel Roles for Ankyrin-B in Ion Channel Targeting and Regulation

Kline, C. F. (2009)

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes

Proks, P., Arnold, A. L., Bruining, J., Girard, C. A. J., Flanagan, S. E., Larkin, B., Colclough, K., Hattersley, A. T., Ashcroft, F. M., & Ellard, S. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl101 · Cited by 213

Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes

de Wet, H., Rees, M. G., Shimomura, K., Aittoniemi, J., Patch, A., Flanagan, S. E., Ellard, S., Hattersley, A. T., Sansom, M. S. P., & Ashcroft, F. M. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0707428104 · Cited by 55

Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11

Edghill, E. L., Flanagan, S. E., & Ellard, S. (2010) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-010-9149-x · Cited by 87

New ABCC8 Mutations in Relapsing Neonatal Diabetes and Clinical Features

Vaxillaire, M., Dechaume, A., Busiah, K., Cavé, H., Pereira, S., Scharfmann, R., de Nanclares, G. P., Castaño, L. A., Froguel, P., Polak, M., et al. (2007) · Diabetes · doi:10.2337/db06-1540 · Cited by 85

An ABCC8 Nonsense Mutation Causing Neonatal Diabetes Through Altered Transcript Expression

Flanagan, S. E., Dũng, V. C., Houghton, J., Franco, E. D., Ngọc, C. T. B., Damhuis, A., Ashcroft, F. M., Harries, L. W., & Ellard, S. (2017) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.4624 · Cited by 15