| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jose C Florez, Kathleen A Jablonski, Steven E Kahn, Paul W Franks, Dana Dabelea, Richard F Hamman, William C Knowler, David M Nathan, David Altshule. Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. Diabetes. vol 56. issue 2. 2007-04-09. PMID:17259403. |
as previously shown in other studies, lysine carriers at kcnj11 e23k had reduced insulin secretion at baseline; however, they were less likely to develop diabetes than e/e homozygotes. |
2007-04-09 |
2023-08-12 |
human |
| Jose C Florez, Kathleen A Jablonski, Steven E Kahn, Paul W Franks, Dana Dabelea, Richard F Hamman, William C Knowler, David M Nathan, David Altshule. Type 2 diabetes-associated missense polymorphisms KCNJ11 E23K and ABCC8 A1369S influence progression to diabetes and response to interventions in the Diabetes Prevention Program. Diabetes. vol 56. issue 2. 2007-04-09. PMID:17259403. |
we conclude that the lysine variant in kcnj11 e23k leads to diminished insulin secretion in individuals with igt. |
2007-04-09 |
2023-08-12 |
human |
| I Flechtner, P de Lonlay, M Pola. Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences. Diabetes & metabolism. vol 32. issue 6. 2007-04-03. PMID:17296510. |
we therefore designed a protocol to transfer and evaluate children who have insulin treated neonatal diabetes due to kcnj11 mutation, from insulin to sulfonylurea. |
2007-04-03 |
2023-08-12 |
Not clear |
| S E Flanagan, E L Edghill, A L Gloyn, S Ellard, A T Hattersle. Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype. Diabetologia. vol 49. issue 6. 2006-11-29. PMID:16609879. |
the identification of a kcnj11 mutation has important therapeutic implications, as many patients can replace insulin injections with sulfonylurea tablets. |
2006-11-29 |
2023-08-12 |
Not clear |
| Anna L Gloyn, Juveria Siddiqui, Sian Ellar. Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Human mutation. vol 27. issue 3. 2006-08-02. PMID:16416420. |
it has been known for some time that loss of function mutations in kcnj11, which encodes for kir6.2, and abcc8, which encodes for sur1, can cause oversecretion of insulin and result in hyperinsulinemia (hi) of infancy; however, heterozygous activating mutations in kcnj11 that result in the opposite phenotype of diabetes have recently been described. |
2006-08-02 |
2023-08-12 |
Not clear |
| Sophie Le Fur, Delphine Fradin, Pascal Boileau, Pierre Bougnère. Association of Kir6.2 and INS VNTR variants with glucose homeostasis in young obese. Physiological genomics. vol 22. issue 3. 2006-06-12. PMID:15956217. |
we investigated whether common variants at the kir6.2 (kcnj11) and insulin variable number of tandem repeat (ins vntr) loci are associated with insulin or glucose levels in 388 obese children. |
2006-06-12 |
2023-08-12 |
Not clear |
| Michel Polak, Julian Shiel. Neonatal Diabetes Mellitus -- genetic aspects 2004. Pediatric endocrinology reviews : PER. vol 2. issue 2. 2006-02-15. PMID:16429105. |
a number of conditions are associated with pndm, some of which have been elucidated at the molecular levels among those, the very recently elucidated mutations in kcnj11 gene, encoding the kir6.2 subunit of the pancreatic katp channel involved in regulation of insulin secretion accounts for one third to a half of the pndm cases. |
2006-02-15 |
2023-08-12 |
Not clear |
| Inês Barroso, Jian'an Luan, Rita P S Middelberg, Anne-Helen Harding, Paul W Franks, Rupert W Jakes, D Clayton, Alan J Schafer, Stephen O'Rahilly, Nicholas J Wareha. Candidate gene association study in type 2 diabetes indicates a role for genes involved in beta-cell function as well as insulin action. PLoS biology. vol 1. issue 1. 2006-01-26. PMID:14551916. |
polymorphisms in five of 15 genes (33%) encoding molecules known to primarily influence pancreatic beta-cell function-abcc8 (sulphonylurea receptor), kcnj11 (kir6.2), slc2a2 (glut2), hnf4a (hnf4alpha), and ins (insulin)-significantly altered disease risk, and in three genes, the risk allele, haplotype, or both had a biologically consistent effect on a relevant physiological trait in the qt study. |
2006-01-26 |
2023-08-12 |
Not clear |
| b' D Vejrazkov\\xc3\\xa1, B Bendlov\\xc3\\xa. [Two promising candidate genes in the ethiopathogenesis of DM2 - PPARgamma2 and KCNJ11]. Casopis lekaru ceskych. vol 144. issue 11. 2006-01-24. PMID:16335696.' |
the kcnj11 gene codes for a pore-forming subunit of the inwardly rectifying atp sensitive k+ channel, which is involved in the direct regulation of insulin secretion. |
2006-01-24 |
2023-08-12 |
Not clear |
| A S Slingerland, G J Bruinin. [From gene to disease; neonatal diabetes mellitus and the KCNJ11 gene]. Nederlands tijdschrift voor geneeskunde. vol 149. issue 49. 2006-01-12. PMID:16375017. |
patients with neonatal dm are normally dependent on life-long insulin injections, but patients with neonatal dm due to a kcnj11 mutation are able to achieve control with sulphonylurea tablets. |
2006-01-12 |
2023-08-12 |
Not clear |
| Martine Vaxillaire, Céline Populaire, Kanetee Busiah, Hélène Cavé, Anna L Gloyn, Andrew T Hattersley, Paul Czernichow, Philippe Froguel, Michel Pola. Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. Diabetes. vol 53. issue 10. 2004-11-16. PMID:15448107. |
it has very recently been shown that heterozygous activating mutations in the kcnj11 gene, encoding the kir6.2 subunit of the pancreatic atp-sensitive k(+) channel involved in the regulation of insulin secretion, cause pnd. |
2004-11-16 |
2023-08-12 |
Not clear |
| Anna L Gloyn, Ewan R Pearson, Jennifer F Antcliff, Peter Proks, G Jan Bruining, Annabelle S Slingerland, Neville Howard, Shubha Srinivasan, José M C L Silva, Janne Molnes, Emma L Edghill, Timothy M Frayling, I Karen Temple, Deborah Mackay, Julian P H Shield, Zdenek Sumnik, Adrian van Rhijn, Jerry K H Wales, Penelope Clark, Shaun Gorman, Javier Aisenberg, Sian Ellard, Pål R Njølstad, Frances M Ashcroft, Andrew T Hattersle. Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal diabetes. The New England journal of medicine. vol 350. issue 18. 2004-05-04. PMID:15115830. |
because atp-sensitive potassium (k(atp)) channels mediate glucose-stimulated insulin secretion from the pancreatic beta cells, we hypothesized that activating mutations in the gene encoding the kir6.2 subunit of this channel (kcnj11) cause neonatal diabetes. |
2004-05-04 |
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 |
| Eva-Maria D Nielsen, Lars Hansen, Bendix Carstensen, Søren M Echwald, Thomas Drivsholm, Charlotte Glümer, Birger Thorsteinsson, Knut Borch-Johnsen, Torben Hansen, Oluf Pederse. The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes. Diabetes. vol 52. issue 2. 2003-04-07. PMID:12540638. |
the e23k polymorphism of the pancreatic beta-cell atp-sensitive k(+) (k(atp)) channel subunit kir6.2 (kcnj11) is associated with type 2 diabetes in whites, and a recent in vitro study of the e23k variant suggests that the association to diabetes might be explained by a slight inhibition of serum insulin release. |
2003-04-07 |
2023-08-12 |
human |