Associated Papers
A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.
Conigrave AD et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025
Case report: Clinical and genetic characteristics of heterozygous CaSR variants in three Chinese females with familial hypocalciuric hypercalcemia type 1: a report of three cases.
Zhang R et al.
Frontiers in Genetics, 2025
Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.
Tian L et al.
Chronic Diseases and Translational Medicine, 2024
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Absence of calcium-sensing receptor basal activity due to inter-subunit disulfide bridges.
Ma S et al.
Communications Biology, 2024
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Structural insights into the activation of human calcium-sensing receptor.
Chen X et al.
Elife, 2021
Structural basis for activation and allosteric modulation of full-length calcium-sensing receptor.
Wen T et al.
Science Advances, 2021
Structural mechanism of cooperative activation of the human calcium-sensing receptor by Ca2+ ions and L-tryptophan.
Ling S et al.
Cell Research, 2021
Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.
Mouly C et al.
Clinical Endocrinology, 2020
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-sensing receptor inhibits TGF-β-signaling by decreasing Smad2 phosphorylation.
Organista-Juárez D et al.
Iubmb Life, 2013
Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.
Hannan FM et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2013
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
Calcium signaling regulates trafficking of familial hypocalciuric hypercalcemia (FHH) mutants of the calcium sensing receptor.
Grant MP et al.
Molecular Endocrinology (baltimore, Md.), 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
A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia.
Hannan FM et al.
Clinical Endocrinology, 2010
Rab1 small GTP-binding protein regulates cell surface trafficking of the human calcium-sensing receptor.
Zhuang X et al.
Endocrinology, 2010
Elucidation of a novel extracellular calcium-binding site on metabotropic glutamate receptor 1{alpha} (mGluR1{alpha}) that controls receptor activation.
Jiang Y et al.
The Journal of Biological Chemistry, 2010
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.
White E et al.
Molecular Endocrinology (baltimore, Md.), 2009
Association of parathyroid adenoma and familial hypocalciuric hypercalcaemia in a teenager.
Brachet C et al.
European Journal of Endocrinology, 2009
Molecular basis for amino acid sensing by family C G-protein-coupled receptors.
Wellendorph P et al.
British Journal of Pharmacology, 2009
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
Identification and dissection of Ca(2+)-binding sites in the extracellular domain of Ca(2+)-sensing receptor.
Huang Y et al.
The Journal of Biological Chemistry, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
The calcium-sensing receptor and related diseases.
D'Souza-Li L
Arquivos Brasileiros De Endocrinologia E Metabologia, 2006
A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.
Woo SI et al.
Yonsei Medical Journal, 2006
Delineating a Ca2+ binding pocket within the venus flytrap module of the human calcium-sensing receptor.
Silve C et al.
The Journal of Biological Chemistry, 2005
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.
Tan YM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Three adjacent serines in the extracellular domains of the CaR are required for L-amino acid-mediated potentiation of receptor function.
Zhang Z et al.
The Journal of Biological Chemistry, 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
Extracellular calcium-sensing receptor: structural and functional features and association with diseases.
Hauache OM
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 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
Functional importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor.
Jensen AA et al.
The Journal of Biological Chemistry, 2000
Functional interactions between the extracellular domain and the seven-transmembrane domain in Ca2+ receptor activation.
Hauache OM et al.
Endocrine, 2000
Intermolecular interactions between dimeric calcium-sensing receptor monomers are important for its normal function.
Bai M et al.
Proceedings of the National Academy of Sciences of the United States of America, 1999
[Controversial opinions regarding the role of Bcml vitamin D receptor gene polymorphism on parathyroid function, calcium absorption and bone mineral density in persons with normal renal function and patients with chronic renal failure].
Maik J et al.
Przeglad Lekarski, 1999
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
In vivo and in vitro characterization of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcemia.
Bai M et al.
The Journal of Clinical Investigation, 1997
Mutations in the calcium-sensing receptor and their clinical implications.
Brown EM
Hormone Research, 1997