Associated Papers
An activating calcium-sensing receptor variant with biased signaling reveals a critical residue for Gα11 coupling.
Benson MR et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
39658204 (PubMed )
Supplement: revised_supplementary_appendix_clean_zjae199.docx
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency.
Tsuji T et al.
Journal of the Endocrine Society, 2021
A calcium-sensing receptor mutation causing hypocalcemia disrupts a transmembrane salt bridge to activate β-arrestin-biased signaling.
Gorvin CM et al.
Science Signaling, 2018
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.
Kim ES et al.
Journal of Bone and Mineral Metabolism, 2016
Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
Hannan FM et al.
Journal of Molecular Endocrinology, 2016
Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.
Zhang C et al.
Frontiers in Physiology, 2016
Role of Ca2+ and L-Phe in regulating functional cooperativity of disease-associated "toggle" calcium-sensing receptor mutations.
Zhang C et al.
Plos One, 2014
The CASR gene: alternative splicing and transcriptional control, and calcium-sensing receptor (CaSR) protein: structure and ligand binding sites.
Hendy GN et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2013
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
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hannan FM et al.
Human Molecular Genetics, 2012
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