Associated Papers
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review.
Thim SB et al.
Acta Paediatrica (oslo, Norway : 1992), 2014
Autosomal dominant hypoparathyroidism caused by germline mutation in GNA11: phenotypic and molecular characterization.
Li D et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
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
Activation switch in the transmembrane domain of metabotropic glutamate receptor.
Yanagawa M et al.
Molecular Pharmacology, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Inherited endocrine diseases involving G proteins and G protein-coupled receptors.
Spiegel AM
Endocrine Development, 2007
[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
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