We report three novel activating mutations in the calcium-sensing receptor (CASR) that are
responsible for autosomal dominant hypocalcemia (ADH) in three unrelated families. Each …

The extracellular calcium (Ca _ o^ 2+)-sensing receptor (CaSR) was the first GPCR
identified whose principal physiological ligand is an ion, namely extracellular Ca 2+. It …

The calcium sensing receptor (CASR) is expressed most abundantly in the parathyroid
glands and the kidney. CASR regulates calcium homeostasis through its ability to modulate …

Sensing of extracellular calcium by CasR is important in regulating calcium homeostasis, but
CasR may have vestigial function in various tissues where it is expressed in low abundance …

Context and Objective: Inactivating mutations in the calcium-sensing receptor (CaSR) gene
cause neonatal severe hyperparathyroidism and familial hypocalciuric hypercalcemia …

The cloning of the extracellular calcium-sensing receptor (CaSR) provided a new paradigm
in G-protein-coupled receptor (GPCR) signaling in which principal physiological ligand is a …

Context: The autosomal dominantly inherited condition familial hypocalciuric hypercalcemia
(FHH) is characterized by elevated plasma calcium levels, relative or absolute hypocalciuria …

De novo activating mutations in the calcium-sensing receptor (CASR) gene are a common
cause of sporadic isolated hypoparathyroidism. Here, we describe a family in which two …

Familial benign hypocalciuric hypercalcemia (FBHH), in which calcium homeostasis is
disordered, can be distinguished from mild primary hyperparathyroidism by the finding of a …

It is now known that variations in extracellular calcium concentration exert diverse
physiologic effects in a variety of tissues that are mediated by a calcium-sensing receptor …