ea0019oc29 | Bone and Calcium | SFEBES2009
Hannan F
, Walls G
, Nesbit M
, Hough T
, Shine B
, Cheeseman M
, Lyon M
, Cox R
, Thakker R
The calcium sensing receptor (CaSR) is a G protein coupled receptor that is expressed in the parathyroids and kidneys, where it plays a pivotal role in the regulation of extracellular calcium homeostasis. Patients with activating CaSR mutations have autosomal dominant hypocalcaemia with hypercalciuria (ADHH), which is associated with polydipsia, polyuria, nephrocalcinosis and renal impairment. The Nuf mouse, which has an activating CaSR mutation (Leu723Gln) has been reported t...