Article
HNF-1alpha G319S, a transactivation-deficient mutant, is associated with altered dynamics of diabetes onset in an Oji-Cree community.
Proceedings of the National Academy of Sciences of the United States of America - 2 Apr 2002
Triggs-Raine Barbara L, Kirkpatrick Robert D, Kelly Sherrie L, Norquay Lisa D, Cattini Peter A, Yamagata Kazuya, Hanley Anthony J G, Zinman Bernard, Harris Stewart B, Barrett P Hugh, Hegele Robert A
Abstract excerpt
The prevalence of type 2 diabetes mellitus in the Oji-Cree of northwestern Ontario is the third highest in the world. A private mutation, G319S, in HNF1A, which encodes hepatic nuclear factor-1alpha (HNF-1alpha), was associated with Oji-Cree type 2 diabetes and was found in approximately 40% of affected subjects. The G319S mutation reduced the in vitro ability of HNF-1alpha to activate transcription by...
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