Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2024
Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis.
Ullah I et al.
Bmc Medical Genomics, 2021
Genome scale analysis of pathogenic variants targetable for single base editing.
Lavrov AV et al.
Bmc Medical Genomics, 2020
Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.
Marx SJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
Identification and functional analysis of a novel CaSR mutation in a family with familial hypocalciuric hypercalcemia.
Kim ES et al.
Journal of Bone and Mineral Metabolism, 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
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
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
Inactivating calcium-sensing receptor mutations in patients with primary hyperparathyroidism.
Frank-Raue K et al.
Clinical 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
Genetic causes of hypercalciuric nephrolithiasis.
Stechman MJ et al.
Pediatric Nephrology (berlin, Germany), 2009
Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS R-568 improves signal transduction of mutant receptors.
Rus R et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Genetics of hypercalciuric nephrolithiasis: renal stone disease.
Stechman MJ et al.
Annals of the New York Academy of Sciences, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.
Ward BK et al.
Clinical Endocrinology, 2006
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review.
Gunn IR et al.
Annals of Clinical Biochemistry, 2004
Familial hypocalciuric hypercalcemia caused by an R648stop mutation in the calcium-sensing receptor gene.
Yamauchi M et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
Simonds WF et al.
Medicine, 2002
Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.
Pearce SH
Annals of Medicine, 2002
Familial hypercalcemia and hypercalciuria: no mutations in the Ca2+-sensing receptor gene.
Rodríguez-Soriano J et al.
Pediatric Nephrology (berlin, Germany), 2001
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
Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor.
Carling T et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
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