Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 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
Case report: familial hypocalciuric hypercalcemia.
Al-Ramdhan A et al.
Ame Case Reports, 2024
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Mechanism of sensitivity modulation in the calcium-sensing receptor via electrostatic tuning.
Schamber MR et al.
Nature Communications, 2022
Radiofrequency Ablation of Parathyroid Glands to Treat a Patient With Hypercalcemia Caused by a Novel Inactivating Mutation in CaSR.
Hao Y et al.
Frontiers in Endocrinology, 2021
A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery.
Veldeman L et al.
Calcified Tissue International, 2020
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
Diseases associated with calcium-sensing receptor.
Vahe C et al.
Orphanet Journal of Rare Diseases, 2017
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo M et al.
European Journal of Endocrinology, 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
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
Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.
Zhang C et al.
Frontiers in Physiology, 2016
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
Grant MP et al.
Molecular Endocrinology (baltimore, Md.), 2012
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
Effect of the calcimimetic R-568 [3-(2-chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on correcting inactivating mutations in the human calcium-sensing receptor.
Lu JY et al.
The Journal of Pharmacology and Experimental Therapeutics, 2009
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.
White E et al.
Molecular Endocrinology (baltimore, Md.), 2009
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.
Obermannova B et al.
European Journal of Pediatrics, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
Zajickova K et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
Wystrychowski A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Editorial: mutant extracellular calcium-sensing receptors and severity of disease.
Brown EM
The Journal of Clinical Endocrinology and Metabolism, 2005
[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
Watanabe S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.
Pearce SH
Annals of Medicine, 2002
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN et al.
Human Mutation, 2000
Molecular biology and clinical importance of the Ca(2+)-sensing receptor.
De Luca F et al.
Current Opinion in Pediatrics, 1998
Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.
Pearce SH et al.
Clinical Endocrinology, 1996