Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.
Tian L et al.
Chronic Diseases and Translational Medicine, 2024
Coexistence of a Calcium-Sensing Receptor Mutation and Primary Hyperparathyroidism.
Russell P et al.
Cureus, 2023
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C et al.
Clinical Endocrinology, 2020
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
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
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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
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
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
Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis.
Livadariu E et al.
European Journal of Endocrinology, 2011
Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.
Frank-Raue K et al.
Clinical Endocrinology, 2011
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.
Rus R et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.
Hu J et al.
Journal of Cellular and Molecular Medicine, 0
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