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
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C et al.
Clinical Endocrinology, 2020
Structural mechanism of ligand activation in human calcium-sensing receptor.
Geng Y et al.
Elife, 2016
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
Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.
Nakamura A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Two novel mutations causing familial benign hypocalciuric hypercalcaemia in three Scottish families.
Hinnie J et al.
Scottish Medical Journal, 2009
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