Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C et al.
Clinical Endocrinology, 2020
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
A Novel Mutation of the Calcium-Sensing Receptor Gene Causing Familial Hypocalciuric Hypercalcemia Complicates Medical Followup after Roux-en-Y Gastric Bypass: A Case Report and a Summary of Mutations Found in the Same Hospital Laboratory.
Carlsson ER et al.
Case Reports in Endocrinology, 2019
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
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
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
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
Multiple Ca(2+)-binding sites in the extracellular domain of the Ca(2+)-sensing receptor corresponding to cooperative Ca(2+) response.
Huang Y et al.
Biochemistry, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.
Nissen PH 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
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
Simonds WF et al.
Medicine, 2002
Expression of a calcium-sensing receptor in a human medullary thyroid carcinoma cell line and its contribution to calcitonin secretion.
Freichel M et al.
Endocrinology, 1996
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