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Items: 1 to 20 of 99

1.

A nonsense mutation in the inward rectifier potassium channel gene, Kir6.2, is associated with familial hyperinsulinism.

Nestorowicz A, Inagaki N, Gonoi T, Schoor KP, Wilson BA, Glaser B, Landau H, Stanley CA, Thornton PS, Seino S, Permutt MA.

Diabetes. 1997 Nov;46(11):1743-8.

PMID:
9356020
2.
3.

Congenital hyperinsulinism: molecular basis of a heterogeneous disease.

Meissner T, Beinbrech B, Mayatepek E.

Hum Mutat. 1999;13(5):351-61. Review.

PMID:
10338089
4.

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.

PMID:
10868950
5.
6.

Mutations in the sulonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews.

Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4th, Bryan J, Aguilar-Bryan L, Permutt MA.

Hum Mol Genet. 1996 Nov;5(11):1813-22.

PMID:
8923011
7.

Intragenic single nucleotide polymorphism haplotype analysis of SUR1 mutations in familial hyperinsulinism.

Glaser B, Furth J, Stanley CA, Baker L, Thornton PS, Landau H, Permutt MA.

Hum Mutat. 1999;14(1):23-9.

PMID:
10447255
9.

ATP4- mediates closure of pancreatic beta-cell ATP-sensitive potassium channels by interaction with 1 of 4 identical sites.

Markworth E, Schwanstecher C, Schwanstecher M.

Diabetes. 2000 Sep;49(9):1413-8.

PMID:
10969823
10.

p57(KIP2) expression in normal islet cells and in hyperinsulinism of infancy.

Kassem SA, Ariel I, Thornton PS, Hussain K, Smith V, Lindley KJ, Aynsley-Green A, Glaser B.

Diabetes. 2001 Dec;50(12):2763-9.

11.
12.

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.

PMID:
17316607
13.

Evidence against functional heteromultimerization of the KATP channel subunits Kir6.1 and Kir6.2.

Seharaseyon J, Sasaki N, Ohler A, Sato T, Fraser H, Johns DC, O'Rourke B, Marbán E.

J Biol Chem. 2000 Jun 9;275(23):17561-5.

14.

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.

15.

Genetic heterogeneity in familial hyperinsulinism.

Nestorowicz A, Glaser B, Wilson BA, Shyng SL, Nichols CG, Stanley CA, Thornton PS, Permutt MA.

Hum Mol Genet. 1998 Jul;7(7):1119-28. Erratum in: Hum Mol Genet 1998 Sep;7(9):1527.

PMID:
9618169
16.

Subunit stoichiometry of the pancreatic beta-cell ATP-sensitive K+ channel.

Inagaki N, Gonoi T, Seino S.

FEBS Lett. 1997 Jun 9;409(2):232-6.

17.

Pharmacological plasticity of cardiac ATP-sensitive potassium channels toward diazoxide revealed by ADP.

D'hahan N, Moreau C, Prost AL, Jacquet H, Alekseev AE, Terzic A, Vivaudou M.

Proc Natl Acad Sci U S A. 1999 Oct 12;96(21):12162-7.

18.

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
19.

Mechanism of cloned ATP-sensitive potassium channel activation by oleoyl-CoA.

Gribble FM, Proks P, Corkey BE, Ashcroft FM.

J Biol Chem. 1998 Oct 9;273(41):26383-7.

20.

Iptakalim, a vascular ATP-sensitive potassium (KATP) channel opener, closes rat pancreatic beta-cell KATP channels and increases insulin release.

Misaki N, Mao X, Lin YF, Suga S, Li GH, Liu Q, Chang Y, Wang H, Wakui M, Wu J.

J Pharmacol Exp Ther. 2007 Aug;322(2):871-8. Epub 2007 May 23.

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