Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Two novel mutations of the calcium-sensing receptor gene affecting the same amino acid position lead to opposite phenotypes and reveal the importance of p.N802 on receptor activity.
Lia-Baldini AS et al.
European Journal of Endocrinology, 2013
Activation switch in the transmembrane domain of metabotropic glutamate receptor.
Yanagawa M et al.
Molecular Pharmacology, 2009
Inherited endocrine diseases involving G proteins and G protein-coupled receptors.
Spiegel AM
Endocrine Development, 2007
A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+.
Hu J et al.
The Journal of Biological Chemistry, 2005
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.
Hendy GN et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
D'Souza-Li L et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
Watanabe S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].
Fukumoto S
Clinical Calcium, 2001
Activating mutations of the calcium-sensing receptor: management of hypocalcemia.
Lienhardt A et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Extracellular calcium-sensing receptor: structural and functional features and association with diseases.
Hauache OM
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2001
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN et al.
Human Mutation, 2000