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KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress response.

Reyes S, Park S, Johnson BD, Terzic A, Olson TM.

Hum Genet. 2009 Dec;126(6):779-89. doi: 10.1007/s00439-009-0731-9.


Polymorphism E23K (rs5219) in the KCNJ11 gene in Euro-Brazilian subjects with type 1 and 2 diabetes.

Souza SW, Alcazar LP, Arakaki PA, Santos-Weiss IC, Alberton D, Picheth G, Rego FG.

Genet Mol Res. 2017 Apr 5;16(2). doi: 10.4238/gmr16029543.


Kir6.2 variant E23K increases ATP-sensitive K+ channel activity and is associated with impaired insulin release and enhanced insulin sensitivity in adults with normal glucose tolerance.

Villareal DT, Koster JC, Robertson H, Akrouh A, Miyake K, Bell GI, Patterson BW, Nichols CG, Polonsky KS.

Diabetes. 2009 Aug;58(8):1869-78. doi: 10.2337/db09-0025. Epub 2009 Jun 2.


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.

Gloyn AL, Weedon MN, Owen KR, Turner MJ, Knight BA, Hitman G, Walker M, Levy JC, Sampson M, Halford S, McCarthy MI, Hattersley AT, Frayling TM.

Diabetes. 2003 Feb;52(2):568-72.


Protection conferred by myocardial ATP-sensitive K+ channels in pressure overload-induced congestive heart failure revealed in KCNJ11 Kir6.2-null mutant.

Yamada S, Kane GC, Behfar A, Liu XK, Dyer RB, Faustino RS, Miki T, Seino S, Terzic A.

J Physiol. 2006 Dec 15;577(Pt 3):1053-65. Epub 2006 Oct 12.


The ATP-sensitive K(+) channel ABCC8 S1369A type 2 diabetes risk variant increases MgATPase activity.

Fatehi M, Raja M, Carter C, Soliman D, Holt A, Light PE.

Diabetes. 2012 Jan;61(1):241-9. doi: 10.2337/db11-0371.


K(ATP) channel polymorphism is associated with left ventricular size in hypertensive individuals: a large-scale community-based study.

Reyes S, Terzic A, Mahoney DW, Redfield MM, Rodeheffer RJ, Olson TM.

Hum Genet. 2008 Jul;123(6):665-7. doi: 10.1007/s00439-008-0519-3. Epub 2008 May 27.


Relationship between dilated cardiomyopathy and the E23K and I337V polymorphisms in the Kir6.2 subunit of the KATP channel.

Xi HL, Liu JF, Li L, Wan J.

Genet Mol Res. 2013 Oct 10;12(4):4383-92. doi: 10.4238/2013.October.10.4.


Human K(ATP) channelopathies: diseases of metabolic homeostasis.

Olson TM, Terzic A.

Pflugers Arch. 2010 Jul;460(2):295-306. doi: 10.1007/s00424-009-0771-y. Epub 2009 Dec 24. Review.


Haplotype structure and genotype-phenotype correlations of the sulfonylurea receptor and the islet ATP-sensitive potassium channel gene region.

Florez JC, Burtt N, de Bakker PI, Almgren P, Tuomi T, Holmkvist J, Gaudet D, Hudson TJ, Schaffner SF, Daly MJ, Hirschhorn JN, Groop L, Altshuler D.

Diabetes. 2004 May;53(5):1360-8.


KATP channel knockout worsens myocardial calcium stress load in vivo and impairs recovery in stunned heart.

Gumina RJ, O'Cochlain DF, Kurtz CE, Bast P, Pucar D, Mishra P, Miki T, Seino S, Macura S, Terzic A.

Am J Physiol Heart Circ Physiol. 2007 Apr;292(4):H1706-13. Epub 2006 Dec 22.


The E23K variant of Kir6.2 associates with impaired post-OGTT serum insulin response and increased risk of type 2 diabetes.

Nielsen EM, Hansen L, Carstensen B, Echwald SM, Drivsholm T, Gl├╝mer C, Thorsteinsson B, Borch-Johnsen K, Hansen T, Pedersen O.

Diabetes. 2003 Feb;52(2):573-7.


KCNJ11 gene knockout of the Kir6.2 KATP channel causes maladaptive remodeling and heart failure in hypertension.

Kane GC, Behfar A, Dyer RB, O'Cochlain DF, Liu XK, Hodgson DM, Reyes S, Miki T, Seino S, Terzic A.

Hum Mol Genet. 2006 Aug 1;15(15):2285-97. Epub 2006 Jun 16.


KCNJ11 E23K variant is associated with the therapeutic effect of sulphonylureas in Chinese type 2 diabetic patients.

Li Q, Chen M, Zhang R, Jiang F, Wang J, Zhou J, Bao Y, Hu C, Jia W.

Clin Exp Pharmacol Physiol. 2014 Oct;41(10):748-54. doi: 10.1111/1440-1681.12280.


Association studies of variants in promoter and coding regions of beta-cell ATP-sensitive K-channel genes SUR1 and Kir6.2 with Type 2 diabetes mellitus (UKPDS 53).

Gloyn AL, Hashim Y, Ashcroft SJ, Ashfield R, Wiltshire S, Turner RC; UK Prospective Diabetes Study (UKPDS 53).

Diabet Med. 2001 Mar;18(3):206-12. Erratum in: Diabet Med. 2003 Mar;20(3):252..


Pharmacogenomic analysis of ATP-sensitive potassium channels coexpressing the common type 2 diabetes risk variants E23K and S1369A.

Lang VY, Fatehi M, Light PE.

Pharmacogenet Genomics. 2012 Mar;22(3):206-14. doi: 10.1097/FPC.0b013e32835001e7.


Single nucleotide polymorphisms in K(ATP) channels: muscular impact on type 2 diabetes.

Li L, Shi Y, Wang X, Shi W, Jiang C.

Diabetes. 2005 May;54(5):1592-7.

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