[HTML][HTML] Loss-of-function and dominant-negative mechanisms associated with hepatocyte nuclear factor-1β mutations in familial type 2 diabetes mellitus
H Tomura, H Nishigori, K Sho, K Yamagata… - Journal of Biological …, 1999 - ASBMB
Hepatocyte nuclear factor (HNF)-1β, a homeodomain-containing transcription factor,
regulates gene expression in a dimerized form in pancreas, liver, and some other tissues.
Recent genetic studies have identified two HNF-1β mutations, R177X and A263fsinsGG, in
subjects with a monogenic form of type 2 diabetes. Despite the defects being in the same
gene, diverse severities of disease are observed in the affected subjects. To investigate the
molecular mechanism by which mutations might cause various phenotypic features, wild …
regulates gene expression in a dimerized form in pancreas, liver, and some other tissues.
Recent genetic studies have identified two HNF-1β mutations, R177X and A263fsinsGG, in
subjects with a monogenic form of type 2 diabetes. Despite the defects being in the same
gene, diverse severities of disease are observed in the affected subjects. To investigate the
molecular mechanism by which mutations might cause various phenotypic features, wild …