Associated Papers
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
Biased signaling in naturally occurring mutations of G protein-coupled receptors associated with diverse human diseases.
Yang LK et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2021
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
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
Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.
Nakamura A et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Impact of clinically relevant mutations on the pharmacoregulation and signaling bias of the calcium-sensing receptor by positive and negative allosteric modulators.
Leach K et al.
Endocrinology, 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
CASR gene activating mutations in two families with autosomal dominant hypocalcemia.
Guarnieri V et al.
Molecular Genetics and Metabolism, 2012
Identification of molecular phenotypes and biased signaling induced by naturally occurring mutations of the human calcium-sensing receptor.
Leach K et al.
Endocrinology, 2012
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.
White E et al.
Molecular Endocrinology (baltimore, Md.), 2009
Activation switch in the transmembrane domain of metabotropic glutamate receptor.
Yanagawa M et al.
Molecular Pharmacology, 2009
Point mutations in either subunit of the GABAB receptor confer constitutive activity to the heterodimer.
Mukherjee RS et al.
Molecular Pharmacology, 2006
Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.
Pearce SH
Annals of Medicine, 2002
[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].
Fukumoto S
Clinical Calcium, 2001
Activating mutations of the calcium-sensing receptor: management of hypocalcemia.
Lienhardt A et al.
The Journal of Clinical Endocrinology and Metabolism, 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
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
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
Lienhardt A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor.
Zhao XM et al.
Febs Letters, 1999
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
Okazaki R et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Mutations in the calcium-sensing receptor and their clinical implications.
Brown EM
Hormone Research, 1997
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