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
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
Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.
Ali DS et al.
Frontiers in Endocrinology, 2023
PTH Infusion for Seizures in Autosomal Dominant Hypocalcemia Type 1.
Sastre A et al.
The New England Journal of Medicine, 2021
Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.
Wen T et al.
Science Advances, 2021
A cell function study on calcium regulation of a novel calcium-sensing receptor mutation (p.Tyr825Phe).
Moon JE et al.
Annals of Pediatric Endocrinology & Metabolism, 2021
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
Gorvin CM et al.
Human Molecular Genetics, 2018
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.
Moon JE et al.
Annals of Pediatric Endocrinology & Metabolism, 2018
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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