Heterozygous loss-of-function mutation of the calcium sensing-receptor (CaSR), causes
familial hypocalciuric hypercalcemia type 1 (FHH1), a typically benign condition …

Calcium-sensing receptors (CaSRs) regulate systemic Ca2+ homeostasis. Loss-of-function
mutations cause familial benign hypocalciuric hypercalcemia (FHH) or neonatal severe …

Familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism
(NSHPT), and autosomal dominant hypocalcemia (ADH), in which calcium homeostasis is …

Objective Identification and characterization of calcium-sensing receptor (CASR) mutations
in four unrelated Italian kindreds with familial hypocalciuric hypercalcemia. Design Clinical …

The human calcium-sensing receptor (CaSR) is a 1078 amino acid cell surface protein,
which is predominantly expressed in the parathyroids and kidney, and is a member of the …

The extracellular calcium (Ca2+ o)-sensing receptor (CaSR) is a family CG protein-coupled
receptor, which detects alterations in Ca2+ o concentrations and modulates parathyroid …

The calcium‐sensing receptor (CASR) is a plasma membrane G protein coupled receptor
that is expressed in the parathyroid hormone (PTH) producing chief cells of the parathyroid …

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

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

Context: Inactivating mutations of the calcium-sensing receptor (CaSR) cause familial
hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Most mutations are …