Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
Charoenngam N et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B et al.
European Journal of Endocrinology, 2016
Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
Thim SB et al.
Acta Paediatrica (oslo, Norway : 1992), 2014
Activation switch in the transmembrane domain of metabotropic glutamate receptor.
Yanagawa M et al.
Molecular Pharmacology, 2009
PTH(1-34) replacement therapy in a child with hypoparathyroidism caused by a sporadic calcium receptor mutation.
Theman TA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
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
A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.
Shiohara M et al.
European Journal of Pediatrics, 2004
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.
Sato K 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
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
Lienhardt A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
Okazaki R et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Disorders of the calcium-sensing receptor.
Thakker RV
Biochimica Et Biophysica Acta, 1998
Molecular biology and clinical importance of the Ca(2+)-sensing receptor.
De Luca F et al.
Current Opinion in Pediatrics, 1998
Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.
De Luca F et al.
The Journal of Clinical Endocrinology and Metabolism, 1997
Recent advances in the genetics of disorders of calcium homeostasis.
Root AW
Advances in Pediatrics, 1996
Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.
Hu J et al.
Journal of Cellular and Molecular Medicine, 0