Article
Overexpression of human PHEX under the human beta-actin promoter does not fully rescue the Hyp mouse phenotype.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jul 2005
Erben Reinhold G, Mayer Dagmar, Weber Karin, Jonsson Kenneth, Jüppner Harald, Lanske Beate
Abstract excerpt
UNLABELLED: XLH in humans and the Hyp phenotype in mice are caused by inactivating Phex mutations. Overexpression of human PHEX under the human beta-actin promoter in Hyp mice rescued the bone phenotype almost completely, but did not affect phosphate homeostasis, suggesting that different, possibly independent, pathophysiological mechanisms contribute to hyperphosphaturia and bone abnormalities in XLH....
Topics
- Actins
- Animals
- Bone Density
- Fibroblast Growth Factor-23
- Humans
- Hypophosphatemia
- Kidney
- Mice
- Mice, Transgenic
- PHEX Phosphate Regulating Neutral Endopeptidase
