Article
Genetic variants in human sterol regulatory element binding protein-1c in syndromes of severe insulin resistance and type 2 diabetes.
Diabetes - 1 Mar 2004
Laudes Matthias, Barroso Inês, Luan Jian'an, Soos Maria A, Yeo Giles, Meirhaeghe Aline, Logie Lisa, Vidal-Puig Antonio, Schafer Alan J, Wareham Nick J, O'Rahilly Stephen
Abstract excerpt
The transcription factor sterol regulatory element binding protein (SREBP)-1c is intimately involved in the regulation of lipid and glucose metabolism. To investigate whether mutations in this gene might contribute to insulin resistance, we screened the exons encoding the aminoterminal transcriptional activation domain in a cohort of 85 unrelated human subjects with severe insulin resistance. Two missense...
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