| Karen E Cosgrove, Ruth M Shepherd, Eva M Fernandez, Anuja Natarajan, Keith J Lindley, Albert Aynsley-Green, Mark J Dunn. Genetics and pathophysiology of hyperinsulinism in infancy. Hormone research. vol 61. issue 6. 2005-06-21. PMID:14981344. |
this can manifest as 'channelopathies' of k(atp) channels through gene defects in abcc8 and kcnj11 (ch.11p15); or as a result of 'metabolopathies' through defects in the genes encoding glucokinase (gck, ch.7p15-p13), glutamate dehydrogenase (glud1, ch.10q23.3) and short-chain l-3-hydroxyacyl-coa dehydrogenase (hadhsc, ch.4q22-q26). |
2005-06-21 |
2023-08-12 |
Not clear |
| Sharona Tornovsky, Ana Crane, Karen E Cosgrove, Khalid Hussain, Judith Lavie, Ma'ayan Heyman, Yaron Nesher, Na'ama Kuchinski, Etti Ben-Shushan, Olga Shatz, Efrat Nahari, Tamara Potikha, David Zangen, Yardena Tenenbaum-Rakover, Liat de Vries, Jesús Argente, Ricardo Gracia, Heddy Landau, Alon Eliakim, Keith Lindley, Mark J Dunne, Lydia Aguilar-Bryan, Benjamin Glase. Hyperinsulinism of infancy: novel ABCC8 and KCNJ11 mutations and evidence for additional locus heterogeneity. The Journal of clinical endocrinology and metabolism. vol 89. issue 12. 2005-02-03. PMID:15579781. |
to date, mutations in five different genes, the sulfonylurea receptor (sur1, abcc8), the inward rectifying potassium channel (k(ir)6.2, kcnj11), glucokinase (gck), glutamate dehydrogenase (glud1), and short-chain 3-hydroxyacyl-coenzyme a dehydrogenase (schad), have been implicated. |
2005-02-03 |
2023-08-12 |
Not clear |
| Anna L Gloyn, Michael N Weedon, Katharine R Owen, Martina J Turner, Bridget A Knight, Graham Hitman, Mark Walker, Jonathan C Levy, Mike Sampson, Stephanie Halford, Mark I McCarthy, Andrew T Hattersley, Timothy M Fraylin. Large-scale association studies of variants in genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) confirm that the KCNJ11 E23K variant is associated with type 2 diabetes. Diabetes. vol 52. issue 2. 2003-04-07. PMID:12540637. |
the genes abcc8 and kcnj11, which encode the subunits sulfonylurea receptor 1 (sur1) and inwardly rectifying potassium channel (kir6.2) of the beta-cell atp-sensitive potassium (k(atp)) channel, control insulin secretion. |
2003-04-07 |
2023-08-12 |
human |