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Items: 1 to 20 of 148

1.

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.

2.

Clinical and molecular characterization of a dominant form of congenital hyperinsulinism caused by a mutation in the high-affinity sulfonylurea receptor.

Thornton PS, MacMullen C, Ganguly A, Ruchelli E, Steinkrauss L, Crane A, Aguilar-Bryan L, Stanley CA.

Diabetes. 2003 Sep;52(9):2403-10.

3.

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
4.

Functional analyses of novel mutations in the sulfonylurea receptor 1 associated with persistent hyperinsulinemic hypoglycemia of infancy.

Shyng SL, Ferrigni T, Shepard JB, Nestorowicz A, Glaser B, Permutt MA, Nichols CG.

Diabetes. 1998 Jul;47(7):1145-51.

PMID:
9648840
5.

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
6.

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
7.

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.

8.

Functional analysis of a mutant sulfonylurea receptor, SUR1-R1420C, that is responsible for persistent hyperinsulinemic hypoglycemia of infancy.

Matsuo M, Trapp S, Tanizawa Y, Kioka N, Amachi T, Oka Y, Ashcroft FM, Ueda K.

J Biol Chem. 2000 Dec 29;275(52):41184-91.

9.
10.

Genetic analysis of Japanese patients with persistent hyperinsulinemic hypoglycemia of infancy: nucleotide-binding fold-2 mutation impairs cooperative binding of adenine nucleotides to sulfonylurea receptor 1.

Tanizawa Y, Matsuda K, Matsuo M, Ohta Y, Ochi N, Adachi M, Koga M, Mizuno S, Kajita M, Tanaka Y, Tachibana K, Inoue H, Furukawa S, Amachi T, Ueda K, Oka Y.

Diabetes. 2000 Jan;49(1):114-20.

PMID:
10615958
11.

Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations.

Pinney SE, MacMullen C, Becker S, Lin YW, Hanna C, Thornton P, Ganguly A, Shyng SL, Stanley CA.

J Clin Invest. 2008 Aug;118(8):2877-86. doi: 10.1172/JCI35414.

12.

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
13.

Diazoxide-unresponsive congenital hyperinsulinism in children with dominant mutations of the β-cell sulfonylurea receptor SUR1.

Macmullen CM, Zhou Q, Snider KE, Tewson PH, Becker SA, Aziz AR, Ganguly A, Shyng SL, Stanley CA.

Diabetes. 2011 Jun;60(6):1797-804. doi: 10.2337/db10-1631. Epub 2011 May 2. Erratum in: Diabetes. 2011 Nov;60(11):3097.

14.

[Congenital hyperinsulinism in newborn and infant].

Giurgea I, Ribeiro MJ, Boddaert N, Touati G, Robert JJ, Saudubray JM, Jaubert F, Bellanné-Chantelot C, Brunelle F, Nihoul-Fékété C, de Lonlay P.

Arch Pediatr. 2005 Nov;12(11):1628-35. Epub 2005 Sep 28. Review. French.

PMID:
16198094
15.

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
16.

Characterisation of new KATP-channel mutations associated with congenital hyperinsulinism in the Finnish population.

Reimann F, Huopio H, Dabrowski M, Proks P, Gribble FM, Laakso M, Otonkoski T, Ashcroft FM.

Diabetologia. 2003 Feb;46(2):241-9. Epub 2003 Jan 9. Erratum in: Diabetologia. 2004 Jan;47(1):155.

PMID:
12627323
17.

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.

18.

Severe congenital hyperinsulinism caused by a mutation in the Kir6.2 subunit of the adenosine triphosphate-sensitive potassium channel impairing trafficking and function.

Marthinet E, Bloc A, Oka Y, Tanizawa Y, Wehrle-Haller B, Bancila V, Dubuis JM, Philippe J, Schwitzgebel VM.

J Clin Endocrinol Metab. 2005 Sep;90(9):5401-6. Epub 2005 Jul 5.

PMID:
15998776
19.

C-terminal tails of sulfonylurea receptors control ADP-induced activation and diazoxide modulation of ATP-sensitive K(+) channels.

Matsuoka T, Matsushita K, Katayama Y, Fujita A, Inageda K, Tanemoto M, Inanobe A, Yamashita S, Matsuzawa Y, Kurachi Y.

Circ Res. 2000 Nov 10;87(10):873-80.

20.

Loss of imprinted genes and paternal SUR1 mutations lead to hyperinsulinism in focal adenomatous hyperplasia.

Fournet JC, Verkarre V, De Lonlay P, Rahier J, Brunelle F, Robert JJ, Nihoul-Fékété C, Saudubray JM, Junien C.

Ann Endocrinol (Paris). 1998;59(6):485-91.

PMID:
10189991
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