Searchable abstracts of presentations at key conferences in endocrinology

ea0013oc9 | Clinical and translational endocrinology | SFEBES2007

A novel homozygous inactivating mutation, Pro339Thr, of the calcium-sensing receptor is associated with isolated primary hyperparathyroidism

Hannan Fadil , Andrew Nesbit M , Christie Paul , Lissens Willy , Bex Marie , Bouillon Roger , Thakker Rajesh

The calcium-sensing receptor (CaSR) plays a central role in regulating parathyroid hormone (PTH) secretion in response to changes in extracellular calcium. The CaSR is a G-protein-coupled receptor and ligand binding results in stimulation of phospholipase C (PLC) activity, causing accumulation of inositol 1,4,5-triphosphate (IP3) and the rapid release of calcium ions from intracellular stores. Given the pivotal role of the CaSR in calcium homeostasis, we decided to ...