Associated Papers
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
Structural mechanism of ligand activation in human calcium-sensing receptor.
Geng Y et al.
Elife, 2016
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
[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
Human Ca(2+) receptor extracellular domain. Analysis of function of lobe I loop deletion mutants.
Reyes-Cruz G et al.
The Journal of Biological Chemistry, 2001
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
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
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
Calcium-sensing receptor mutations in familial hypocalciuric hypercalcaemia with recurrent pancreatitis.
Pearce SH et al.
Clinical Endocrinology, 1996
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains.
Heath H et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
The calcium-sensing receptor (CaR) and its disorders.
Brown EM
Hormones (athens, Greece), 0
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