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
Genetic profile of a large Spanish cohort with hypercalcemia.
García-Castaño A et al.
Frontiers in Endocrinology, 2024
Prenatal bone abnormalities in three cases of familial hypocalciuric hypercalcemia.
Frerot A et al.
Prenatal Diagnosis, 2022
Off-label use of cinacalcet in pediatric primary hyperparathyroidism: A French multicenter experience.
Bernardor J et al.
Frontiers in Pediatrics, 2022
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
Aromatase inhibition remodels the clonal architecture of estrogen-receptor-positive breast cancers.
Miller CA et al.
Nature Communications, 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
Whole-genome analysis informs breast cancer response to aromatase inhibition.
Ellis MJ et al.
Nature, 2012
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series.
Rasmussen AQ et al.
Journal of Medical Case Reports, 2011
Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia.
Alon US et al.
Pediatric Nephrology (berlin, Germany), 2010
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
D'Souza-Li L et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
[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
A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.
Nakayama T et al.
Endocrine, 2001
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
Disorders of the calcium-sensing receptor.
Thakker RV
Biochimica Et Biophysica Acta, 1998
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