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Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL. Wabitsch M, et al. Among authors: van de bunt m. Diabet Med. 2007 Dec;24(12):1393-9. doi: 10.1111/j.1464-5491.2007.02285.x. Epub 2007 Nov 1. Diabet Med. 2007. PMID: 17976205
Identification of a novel beta-cell glucokinase (GCK) promoter mutation (-71G>C) that modulates GCK gene expression through loss of allele-specific Sp1 binding causing mild fasting hyperglycemia in humans.
Gasperíková D, Tribble ND, Staník J, Hucková M, Misovicová N, van de Bunt M, Valentínová L, Barrow BA, Barák L, Dobránsky R, Bereczková E, Michálek J, Wicks K, Colclough K, Knight JC, Ellard S, Klimes I, Gloyn AL. Gasperíková D, et al. Among authors: van de bunt m. Diabetes. 2009 Aug;58(8):1929-35. doi: 10.2337/db09-0070. Epub 2009 May 1. Diabetes. 2009. PMID: 19411616 Free PMC article.
From genetic association to molecular mechanism.
van de Bunt M, Gloyn AL. van de Bunt M, et al. Curr Diab Rep. 2010 Dec;10(6):452-66. doi: 10.1007/s11892-010-0150-2. Curr Diab Rep. 2010. PMID: 20878272 Review.
68 results