Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
40664210 (PubMed )
Supplement: mmc2.xlsx › Table_S8_AOU_variants
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
Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.
Zhang C et al.
Frontiers in Physiology, 2016
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
Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.
Frank-Raue K et al.
Clinical Endocrinology, 2011
Calcium-sensing receptor biosynthesis includes a cotranslational conformational checkpoint and endoplasmic reticulum retention.
Cavanaugh A et al.
The Journal of Biological Chemistry, 2010
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.
White E et al.
Molecular Endocrinology (baltimore, Md.), 2009
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.
Rus R et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
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
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