Associated Papers
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
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
Calcium-sensing receptor residues with loss- and gain-of-function mutations are located in regions of conformational change and cause signalling bias.
Gorvin CM et al.
Human Molecular Genetics, 2018
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
A new mutation in the calcium-sensing receptor gene causing hypocalcaemia: case report of a father and two sons.
Schoutteten MK et al.
The Netherlands Journal of Medicine, 2017
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
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
[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
[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
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
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.
Pearce SH et al.
The Journal of Clinical Investigation, 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