Associated Papers
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
A rapid approach to capture the potential bioactive compounds from Rhizoma Drynariae, utilizing disease-associated mutation in calcium sensing receptor to alter the binding affinity for agonists.
Meng KL et al.
Journal of Pharmaceutical and Biomedical Analysis, 2023
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Structural basis for regulation of human calcium-sensing receptor by magnesium ions and an unexpected tryptophan derivative co-agonist.
Zhang C et al.
Science Advances, 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
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
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
Cole DE et al.
Journal of Molecular Endocrinology, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
G protein-coupled receptor pharmacogenetics.
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
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review.
Gunn IR et al.
Annals of Clinical Biochemistry, 2004
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.
Hu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
Hu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.
Nakayama T et al.
Endocrine, 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
Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca(2+) receptor critical for dimerization. Implications for function of monomeric Ca(2+) receptor.
Ray K et al.
The Journal of Biological Chemistry, 1999
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
[Controversial opinions regarding the role of Bcml vitamin D receptor gene polymorphism on parathyroid function, calcium absorption and bone mineral density in persons with normal renal function and patients with chronic renal failure].
Maik J et al.
Przeglad Lekarski, 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
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
Watanabe T et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Mutations in the calcium-sensing receptor and their clinical implications.
Brown EM
Hormone Research, 1997
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
Pearce SH et al.
The New England Journal of Medicine, 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