Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
CASRdb: A Publicly Accessible Comprehensive Database for Disease-Associated Calcium-Sensing Receptor Variants.
Charoenngam N et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Identification and characterization of a novel CASR mutation causing familial hypocalciuric hypercalcemia.
Lin CM et al.
Frontiers in Endocrinology, 2024
Mechanism of sensitivity modulation in the calcium-sensing receptor via electrostatic tuning.
Schamber MR et al.
Nature Communications, 2022
Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.
Park HS et al.
Frontiers in Endocrinology, 2022
Late-Onset Bartter Syndrome Type II Due to a Homozygous Mutation in KCNJ1 Gene: A Case Report and Literature Review.
Elfert KA et al.
The American Journal of Case Reports, 2020
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
García-Castaño A et al.
European Journal of Endocrinology, 2019
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinoma.
Cardoso L et al.
Human Mutation, 2017
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
Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor.
Taki K et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2015
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
Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.
Hannan FM et al.
Human Molecular Genetics, 2012
A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia.
Tonyushkina KN et al.
International Journal of Pediatric Endocrinology, 2012
Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series.
Rasmussen AQ et al.
Journal of Medical Case Reports, 2011
[Familial hypercalcemia and hypophosphatemia: importance in differential diagnosis of disorders in calcium-phosphate metabolism].
Zofková I
Vnitrni Lekarstvi, 2010
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography.
Cole DE et al.
Journal of Molecular Endocrinology, 2009
Multiple Ca(2+)-binding sites in the extracellular domain of the Ca(2+)-sensing receptor corresponding to cooperative Ca(2+) response.
Huang Y et al.
Biochemistry, 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
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
The G protein-coupled receptors: pharmacogenetics and disease.
Thompson MD et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.
Hu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004
[Hypocalciuric hypercalcemia due to de novo mutation of the calcium sensing receptor].
Sarli M et al.
Medicina, 2004
Identification and functional characterization of novel calcium-sensing receptor mutations in familial hypocalciuric hypercalcemia and autosomal dominant hypocalcemia.
D'Souza-Li L et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Inactivating mutations of calcium-sensing receptor results in parathyroid lipohyperplasia.
Fukumoto S et al.
Diagnostic Molecular Pathology : the American Journal of Surgical Pathology, Part B, 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
[Severe neonatal hyperparathyroidism in a family with familial hypocalciuric hypercalcemia].
Friis IM et al.
Ugeskrift for Laeger, 2000
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism associated with mutations in the human Ca2+-sensing receptor gene in three Danish families.
Schwarz P et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 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