Identification of a Novel β-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

OBJECTIVE: Inactivating mutations in glucokinase (GCK) cause mild fasting hyperglycemia. Identification of a GCK mutation has implications for treatment and prognosis; therefore, it is important to identify these individuals. A significant number of patients have a phenotype suggesting a defect in g...

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Detalhes bibliográficos
Main Authors: Gašperíková, Daniela, Tribble, Nicolas D., Staník, Juraj, Hučková, Miroslava, Mišovicová, Nadežda, van de Bunt, Martijn, Valentínová, Lucia, Barrow, Beryl A., Barák, L'ubomir, Dobránsky, Radoslav, Bereczková, Eva, Michálek, Jozef, Wicks, Kate, Colclough, Kevin, Knight, Julian C., Ellard, Sian, Klimeš, Iwar, Gloyn, Anna L.
Formato: Artigo
Idioma:Inglês
Publicado em: American Diabetes Association 2009
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2712784/
https://ncbi.nlm.nih.gov/pubmed/19411616
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db09-0070
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