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 › Unique_variants___1.5
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Promiscuous G-protein activation by the calcium-sensing receptor.
Zuo H et al.
Nature, 2024
Common calcium-sensing receptor (CASR) gene variants do not modify risk for chronic pancreatitis in a Hungarian cohort.
Takáts A et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2021
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R et al.
American Journal of Human Genetics, 2020
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
Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
Thim SB et al.
Acta Paediatrica (oslo, Norway : 1992), 2014
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
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