PubMed

Carriers of an inactivating beta-cell ATP-sensitive K(+) channel mutation have normal glucose tolerance and insulin sensitivity and appropriate insulin secretion.

Huopio H, Vauhkonen I, Komulainen J, Niskanen L, Otonkoski T, Laakso M.

Diabetes Care. 2002 Jan;25(1):101-6.PMID: 11772909 [PubMed - indexed for MEDLINE]Related articlesFree article

Acute insulin response tests for the differential diagnosis of congenital hyperinsulinism.

Huopio H, Jääskeläinen J, Komulainen J, Miettinen R, Kärkkäinen P, Laakso M, Tapanainen P, Voutilainen R, Otonkoski T.

J Clin Endocrinol Metab. 2002 Oct;87(10):4502-7.PMID: 12364426 [PubMed - indexed for MEDLINE]Related articlesFree article

Dysregulation of insulin secretion in children with congenital hyperinsulinism due to sulfonylurea receptor mutations.

Grimberg A, Ferry RJ Jr, Kelly A, Koo-McCoy S, Polonsky K, Glaser B, Permutt MA, Aguilar-Bryan L, Stafford D, Thornton PS, Baker L, Stanley CA.

Diabetes. 2001 Feb;50(2):322-8.PMID: 11272143 [PubMed - indexed for MEDLINE]Related articlesFree article

Hyperinsulinism in mice with heterozygous loss of K(ATP) channels.

Remedi MS, Rocheleau JV, Tong A, Patton BL, McDaniel ML, Piston DW, Koster JC, Nichols CG.

Diabetologia. 2006 Oct;49(10):2368-78. Epub 2006 Aug 19.PMID: 16924481 [PubMed - indexed for MEDLINE]Related articles

Dominantly inherited hyperinsulinism caused by a mutation in the sulfonylurea receptor type 1.

Huopio H, Reimann F, Ashfield R, Komulainen J, Lenko HL, Rahier J, Vauhkonen I, Kere J, Laakso M, Ashcroft F, Otonkoski T.

J Clin Invest. 2000 Oct;106(7):897-906.PMID: 11018078 [PubMed - indexed for MEDLINE]Related articlesFree article

Sulfonylurea receptor 1 mutations that cause opposite insulin secretion defects with chemical chaperone exposure.

Pratt EB, Yan FF, Gay JW, Stanley CA, Shyng SL.

J Biol Chem. 2009 Mar 20;284(12):7951-9. Epub 2009 Jan 16.PMID: 19151370 [PubMed - indexed for MEDLINE]Related articles

A rare mutation in ABCC8/SUR1 leading to altered ATP-sensitive K+ channel activity and beta-cell glucose sensing is associated with type 2 diabetes in adults.

Tarasov AI, Nicolson TJ, Riveline JP, Taneja TK, Baldwin SA, Baldwin JM, Charpentier G, Gautier JF, Froguel P, Vaxillaire M, Rutter GA.

Diabetes. 2008 Jun;57(6):1595-604. Epub 2008 Mar 17.PMID: 18346985 [PubMed - indexed for MEDLINE]Related articlesFree article

Decreased tolbutamide-stimulated insulin secretion in healthy subjects with sequence variants in the high-affinity sulfonylurea receptor gene.

Hansen T, Echwald SM, Hansen L, Møller AM, Almind K, Clausen JO, Urhammer SA, Inoue H, Ferrer J, Bryan J, Aguilar-Bryan L, Permutt MA, Pedersen O.

Diabetes. 1998 Apr;47(4):598-605.PMID: 9568693 [PubMed - indexed for MEDLINE]Related articlesFree article

ABCC8 (SUR1) and KCNJ11 (KIR6.2) mutations in persistent hyperinsulinemic hypoglycemia of infancy and evaluation of different therapeutic measures.

Darendeliler F, Fournet JC, Baş F, Junien C, Gross MS, Bundak R, Saka N, Günöz H.

J Pediatr Endocrinol Metab. 2002 Jul-Aug;15(7):993-1000.PMID: 12199344 [PubMed - indexed for MEDLINE]Related articles

Congenital hyperinsulinism associated ABCC8 mutations that cause defective trafficking of ATP-sensitive K+ channels: identification and rescue.

Yan FF, Lin YW, MacMullen C, Ganguly A, Stanley CA, Shyng SL.

Diabetes. 2007 Sep;56(9):2339-48. Epub 2007 Jun 15.PMID: 17575084 [PubMed - indexed for MEDLINE]Related articlesFree article

Defective trafficking and function of KATP channels caused by a sulfonylurea receptor 1 mutation associated with persistent hyperinsulinemic hypoglycemia of infancy.

Cartier EA, Conti LR, Vandenberg CA, Shyng SL.

Proc Natl Acad Sci U S A. 2001 Feb 27;98(5):2882-7.PMID: 11226335 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotype-phenotype correlations in children with congenital hyperinsulinism due to recessive mutations of the adenosine triphosphate-sensitive potassium channel genes.

Henwood MJ, Kelly A, Macmullen C, Bhatia P, Ganguly A, Thornton PS, Stanley CA.

J Clin Endocrinol Metab. 2005 Feb;90(2):789-94. Epub 2004 Nov 23.PMID: 15562009 [PubMed - indexed for MEDLINE]Related articlesFree article

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. Epub 2009 Jun 2.PMID: 19491206 [PubMed - indexed for MEDLINE]Related articlesFree article

Switching from insulin to oral sulfonylureas in patients with diabetes due to Kir6.2 mutations.

Pearson ER, Flechtner I, Njølstad PR, Malecki MT, Flanagan SE, Larkin B, Ashcroft FM, Klimes I, Codner E, Iotova V, Slingerland AS, Shield J, Robert JJ, Holst JJ, Clark PM, Ellard S, Søvik O, Polak M, Hattersley AT; Neonatal Diabetes International Collaborative Group.

N Engl J Med. 2006 Aug 3;355(5):467-77.PMID: 16885550 [PubMed - indexed for MEDLINE]Related articlesFree article

A point mutation inactivating the sulfonylurea receptor causes the severe form of persistent hyperinsulinemic hypoglycemia of infancy in Finland.

Otonkoski T, Ammälä C, Huopio H, Cote GJ, Chapman J, Cosgrove K, Ashfield R, Huang E, Komulainen J, Ashcroft FM, Dunne MJ, Kere J, Thomas PM.

Diabetes. 1999 Feb;48(2):408-15.PMID: 10334322 [PubMed - indexed for MEDLINE]Related articlesFree article

Diabetes and hypoglycaemia in young children and mutations in the Kir6.2 subunit of the potassium channel: therapeutic consequences.

Flechtner I, de Lonlay P, Polak M.

Diabetes Metab. 2006 Dec;32(6):569-80. Review.PMID: 17296510 [PubMed - indexed for MEDLINE]Related articlesFree article

Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.

Ohkubo K, Nagashima M, Naito Y, Taguchi T, Suita S, Okamoto N, Fujinaga H, Tsumura K, Kikuchi K, Ono J.

Clin Endocrinol (Oxf). 2005 Apr;62(4):458-65.PMID: 15807877 [PubMed - indexed for MEDLINE]Related articles

Regulated expression of adenosine triphosphate-sensitive potassium channel subunits in pancreatic beta-cells.

Moritz W, Leech CA, Ferrer J, Habener JF.

Endocrinology. 2001 Jan;142(1):129-38.PMID: 11145575 [PubMed - indexed for MEDLINE]Related articlesFree article

Role of common sequence variants in insulin secretion in familial type 2 diabetic kindreds: the sulfonylurea receptor, glucokinase, and hepatocyte nuclear factor 1alpha genes.

Elbein SC, Sun J, Scroggin E, Teng K, Hasstedt SJ.

Diabetes Care. 2001 Mar;24(3):472-8.PMID: 11289470 [PubMed - indexed for MEDLINE]Related articlesFree article

Suppression of insulin oversecretion by subcutaneous recombinant human insulin-like growth factor I in children with congenital hyperinsulinism due to defective beta-cell sulfonylurea receptor.

Katz LE, Ferry RJ Jr, Stanley CA, Collett-Solberg PF, Baker L, Cohen P.

J Clin Endocrinol Metab. 1999 Sep;84(9):3117-24.PMID: 10487673 [PubMed - indexed for MEDLINE]Related articlesFree article