Article
Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort.
Journal of the American Society of Nephrology : JASN - 1 Feb 2006
Ulinski Tim, Lescure Sandra, Beaufils Sandrine, Guigonis Vincent, Decramer Stéphane, Morin Denis, Clauin Séverine, Deschênes Georges, Bouissou François, Bensman Albert, Bellanné-Chantelot Christine
Abstract excerpt
The hepatocyte nuclear factor-1beta encoded by the TCF2 gene plays a role for the specific regulation of gene expression in various tissues such as liver, kidney, intestine, and pancreatic islets and is involved in the embryonic development of these organs. TCF2 mutations are known to be responsible for the maturity-onset diabetes of the young type 5 associated with renal manifestations. Several observations have...
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