Associated Papers
A new publicly available database of human calcium-sensing receptor variants that disrupt calcium homeostasis.
Conigrave AD et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Evolutionary history of calcium-sensing receptors unveils hyper/hypocalcemia-causing mutations.
Bircan A et al.
Plos Computational Biology, 2024
Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.
Teleanu RI et al.
Children (basel, Switzerland), 2023
A new missense mutation of calcium sensing receptor with isoleucine replaced by serine at codon 857 leading to type V Bartter syndrome.
Chou KJ et al.
Experimental Cell Research, 2022
The role of calcium-sensing receptor signaling in regulating transepithelial calcium transport.
Tan RSG et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
Gain-of-function mutations in G-protein-coupled receptor genes associated with human endocrine disorders.
Fukami M et al.
Clinical Endocrinology, 2018
Diseases associated with calcium-sensing receptor.
Vahe C et al.
Orphanet Journal of Rare Diseases, 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
Structural basis for regulation of human calcium-sensing receptor by magnesium ions and an unexpected tryptophan derivative co-agonist.
Zhang C et al.
Science Advances, 2016
Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations.
Al Shibli A et al.
World Journal of Methodology, 2015
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
Baran N et al.
Molecular and Cellular Endocrinology, 2015
Molecular pathophysiology of Bartter's and Gitelman's syndromes.
Koulouridis E et al.
World Journal of Pediatrics : Wjp, 2015
Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia.
Regala J et al.
Journal of Pediatric Genetics, 2015
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
Calcium-sensing receptor activation in chronic kidney disease: effects beyond parathyroid hormone control.
Massy ZA et al.
Seminars in Nephrology, 2014
Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia.
Kinoshita Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Amino alcohol- (NPS-2143) and quinazolinone-derived calcilytics (ATF936 and AXT914) differentially mitigate excessive signalling of calcium-sensing receptor mutants causing Bartter syndrome Type 5 and autosomal dominant hypocalcemia.
Letz S et al.
Plos One, 2014
Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism.
Hannan FM et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2013
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
Gitelman or Bartter type 3 syndrome? A case of distal convoluted tubulopathy caused by CLCNKB gene mutation.
Cruz AJ et al.
Bmj Case Reports, 2013
Understanding Bartter syndrome and Gitelman syndrome.
Fremont OT et al.
World Journal of Pediatrics : Wjp, 2012
Calcium-sensing receptor decreases cell surface expression of the inwardly rectifying K+ channel Kir4.1.
Cha SK et al.
The Journal of Biological Chemistry, 2011
Primary molecular disorders and secondary biological adaptations in bartter syndrome.
Deschênes G et al.
International Journal of Nephrology, 2011
Thick ascending limb: the Na(+):K (+):2Cl (-) co-transporter, NKCC2, and the calcium-sensing receptor, CaSR.
Gamba G et al.
Pflugers Archiv : European Journal of Physiology, 2009
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
Diseases and clinical applications of the calcium sensing receptor.
Alon US
Pediatric Endocrinology Reviews : Per, 2007
The calcium-sensing receptor and related diseases.
D'Souza-Li L
Arquivos Brasileiros De Endocrinologia E Metabologia, 2006
A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+.
Hu J et al.
The Journal of Biological Chemistry, 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
Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes.
Sayer JA et al.
Clinical Endocrinology, 2003
Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.
Tan YM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Recent advances in molecular genetics of hereditary magnesium-losing disorders.
Konrad M et al.
Journal of the American Society of Nephrology : Jasn, 2003
Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.
Vargas-Poussou R et al.
Journal of the American Society of Nephrology : Jasn, 2002
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
Hu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002
Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.
Sato K 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
[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
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
Effects of a calcimimetic compound and naturally activating mutations on the human Ca2+ receptor and on Ca2+ receptor/metabotropic glutamate chimeric receptors.
Hauache OM et al.
Endocrinology, 2000
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
Human Ca2+ receptor cysteine-rich domain. Analysis of function of mutant and chimeric receptors.
Hu J et al.
The Journal of Biological Chemistry, 2000
Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca(2+) receptor critical for dimerization. Implications for function of monomeric Ca(2+) receptor.
Ray K et al.
The Journal of Biological Chemistry, 1999
Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.
Vezzoli G et al.
Journal of Nephrology, 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
[Disorders Caused by Mutations in Calcium-Sensing Receptor and Related Diseases.]
Michigami T
Clinical Calcium, 0