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The molecular mechanisms and pharmacotherapy of ATP-sensitive potassium channel gene mutations underlying neonatal diabetes.

Lang V, Light PE.

Pharmgenomics Pers Med. 2010;3:145-61. doi: 10.2147/PGPM.S6969. Epub 2010 Nov 24.


Transient Neonatal Diabetes Mellitus in a Very Preterm Infant due to ABCC8 Mutation.

Piccini B, Coviello C, Drovandi L, Rosangela A, Monzali F, Casalini E, Giglio S, Toni S, Dani C.

AJP Rep. 2018 Jan;8(1):e39-e42. doi: 10.1055/s-0038-1636427. Epub 2018 Mar 7.


Diverse roles of K(ATP) channels learned from Kir6.2 genetically engineered mice.

Seino S, Iwanaga T, Nagashima K, Miki T.

Diabetes. 2000 Mar;49(3):311-8. Review.


Functional characterization of a novel KCNJ11 in frame mutation-deletion associated with infancy-onset diabetes and a mild form of intermediate DEND: a battle between K(ATP) gain of channel activity and loss of channel expression.

Lin YW, Li A, Grasso V, Battaglia D, Crinò A, Colombo C, Barbetti F, Nichols CG.

PLoS One. 2013 May 7;8(5):e63758. doi: 10.1371/journal.pone.0063758. Print 2013.


Identification of mutations in the Kir6.2 subunit of the K(ATP) channel.

Flanagan SE, Ellard S.

Methods Mol Biol. 2008;491:235-45. doi: 10.1007/978-1-59745-526-8_18.


Identification of two novel frameshift mutations in the KCNJ11 gene in two Italian patients affected by Congenital Hyperinsulinism of Infancy.

Biagiotti L, Proverbio MC, Bosio L, Gervasi F, Rovida E, Cerioni V, Bove M, Valin PS, Albarello L, Zamproni I, Grassi S, Doglioni C, Mora S, Chiumello G, Biunno I.

Exp Mol Pathol. 2007 Aug;83(1):59-64. Epub 2007 Jan 17.


Successful sulfonylurea treatment in a patient with permanent neonatal diabetes mellitus with a novel KCNJ11 mutation.

Ahn SY, Kim GH, Yoo HW.

Korean J Pediatr. 2015 Aug;58(8):309-12. doi: 10.3345/kjp.2015.58.8.309. Epub 2015 Aug 21.


Pharmacological rescue of trafficking-impaired ATP-sensitive potassium channels.

Martin GM, Chen PC, Devaraneni P, Shyng SL.

Front Physiol. 2013 Dec 24;4:386. doi: 10.3389/fphys.2013.00386. Review.


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

Gloyn AL, Pearson ER, Antcliff JF, Proks P, Bruining GJ, Slingerland AS, Howard N, Srinivasan S, Silva JM, Molnes J, Edghill EL, Frayling TM, Temple IK, Mackay D, Shield JP, Sumnik Z, van Rhijn A, Wales JK, Clark P, Gorman S, Aisenberg J, Ellard S, Njølstad PR, Ashcroft FM, Hattersley AT.

N Engl J Med. 2004 Apr 29;350(18):1838-49. Erratum in: N Engl J Med. 2004 Sep 30;351(14):1470.


Molecular biology of adenosine triphosphate-sensitive potassium channels.

Aguilar-Bryan L, Bryan J.

Endocr Rev. 1999 Apr;20(2):101-35. Review.


The G53D mutation in Kir6.2 (KCNJ11) is associated with neonatal diabetes and motor dysfunction in adulthood that is improved with sulfonylurea therapy.

Koster JC, Cadario F, Peruzzi C, Colombo C, Nichols CG, Barbetti F.

J Clin Endocrinol Metab. 2008 Mar;93(3):1054-61. Epub 2007 Dec 11.


Pancreatic β-cell KATP channels: Hypoglycaemia and hyperglycaemia.

Bennett K, James C, Hussain K.

Rev Endocr Metab Disord. 2010 Sep;11(3):157-63. doi: 10.1007/s11154-010-9144-2. Review.


Genetics and pathophysiology of neonatal diabetes mellitus.

Naylor RN, Greeley SA, Bell GI, Philipson LH.

J Diabetes Investig. 2011 Jun 5;2(3):158-69. doi: 10.1111/j.2040-1124.2011.00106.x. Review.


beta-cell hyperexcitability: from hyperinsulinism to diabetes.

Nichols CG, Koster JC, Remedi MS.

Diabetes Obes Metab. 2007 Nov;9 Suppl 2:81-8.


A Kir6.2 mutation causing neonatal diabetes impairs electrical activity and insulin secretion from INS-1 beta-cells.

Tarasov AI, Welters HJ, Senkel S, Ryffel GU, Hattersley AT, Morgan NG, Ashcroft FM.

Diabetes. 2006 Nov;55(11):3075-82.


The K(ATP) channel and neonatal diabetes.

Shimomura K.

Endocr J. 2009;56(2):165-75. Epub 2008 Jun 20. Review.


Congenital hyperinsulinism and glucose hypersensitivity in homozygous and heterozygous carriers of Kir6.2 (KCNJ11) mutation V290M mutation: K(ATP) channel inactivation mechanism and clinical management.

Loechner KJ, Akrouh A, Kurata HT, Dionisi-Vici C, Maiorana A, Pizzoferro M, Rufini V, de Ville de Goyet J, Colombo C, Barbetti F, Koster JC, Nichols CG.

Diabetes. 2011 Jan;60(1):209-17. doi: 10.2337/db10-0731. Epub 2010 Oct 27.


Neonatal Diabetes and Congenital Hyperinsulinism Caused by Mutations in ABCC8/SUR1 are Associated with Altered and Opposite Affinities for ATP and ADP.

Ortiz D, Bryan J.

Front Endocrinol (Lausanne). 2015 Apr 15;6:48. doi: 10.3389/fendo.2015.00048. eCollection 2015.


From congenital hyperinsulinism to diabetes mellitus: the role of pancreatic beta-cell KATP channels.

Hussain K, Cosgrove KE.

Pediatr Diabetes. 2005 Jun;6(2):103-13.


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