Teresa Nesbitt

TL;DR: Intragenic non–overlapping deletions from four different families and three mutations have been detected in HYP patients, which suggest that the PEX gene is involved in the HYP disorder.

TL;DR: It is reported that immortalized osteoblasts derived from the simian virus 40 (SV40) transgenic Hyp mouse (TMOb- Hyp) have an impaired capacity to mineralize extracellular matrix in vitro, and abnormal PEX in osteoblast is associated with the accumulation of a factor(s) that inhibits mineralization of extrace Cellular Matrix in vitro.

TL;DR: The data establish that IGF-I stimulates renal 1(OH)ase activity in a time- and dose-dependent fashion, but do not support the hypothesis that insulin-like growth factor-I modulates the effects of phosphate-depletion on 1( OH) enzyme activity.

TL;DR: The data indicate that renal proximal tubule cells from Hyp mice have intrinsically normal phosphate transport and support the hypothesis that a humoral abnormality underlies renal phosphate wasting in XLH.

TL;DR: The data suggest that the presence of inactivating PHEX mutations results in the enhanced renal phosphate transport inhibitory activity exhibited by hyp‐mouse osteoblasts.