Olga Kifor

TL;DR: The cloning of complementary DNA encoding an extracellular Ca2+ -sensing receptor from bovine parathyroid is reported with pharmacological and functional properties nearly identical to those of the native receptor.

TL;DR: It is demonstrated that a missense mutation (Glu128Ala) in this gene causes familial hypocalcaemia in affected members of one family, and this extracellular domain mutation increases the receptor's activity at low Ca2+ concentrations, causing hypocalcemia in patients heterozygous for such a mutation.

TL;DR: The findings suggest that Casr mutations cause these human disorders by reducing the number of functional receptor molecules on the cell surface.

TL;DR: Gain-of-function mutations in the calcium-sensing receptor are associated with a familial syndrome of hypocalcemia with hypercalciuria that needs to be distinguished from hypoparathyroidism.

TL;DR: There is a variable, but substantial, reduction in the immunoreactivity of the Ca2+o-sensing receptor protein in both parathyroid adenomas and uremic hyperparathyroidism, as assessed by immunohistochemistry, that probably results from reduced expression of the receptor protein and may contribute to the increase in the set-point often observed in these patients.