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- Title
Abnormal nephron development associated with a frameshift mutation in the transcription factor hepatocyte nuclear factor-1 beta.
- Authors
Bingham, C; Ellard, S; Allen, L; Bulman, M; Shepherd, M; Frayling, T; Berry, P J; Clark, P M; Lindner, T; Bell, G I; Ryffel, G U; Nicholls, A J; Hattersley, A T
- Abstract
The transcription factor hepatocyte nuclear factor (HNF)-1 beta functions as a homodimer or as a heterodimer with the structurally related protein HNF-1 alpha. Both are expressed sequentially in rat kidney development, with HNF-1 beta being detected from the earliest inductory phases. HNF-1 beta gene mutations are associated with a unique disorder characterized by maturity-onset diabetes of the young (MODY) and early-onset and progressive nondiabetic renal dysfunction, which may lead to chronic renal failure.
- Publication
Kidney international, 2000, Vol 57, Issue 3, p898
- ISSN
0085-2538
- Publication type
Journal Article
- DOI
10.1046/j.1523-1755.2000.057003898.x