Associated Papers
An interesting case of coexistence of autosomal dominant hypocalcemia 1 with Bartter syndrome and chronic myelogenous leukemia.
Chondrogianni ME et al.
Hormones (athens, Greece), 2025
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
Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.
Tian L et al.
Chronic Diseases and Translational Medicine, 2024
Absence of calcium-sensing receptor basal activity due to inter-subunit disulfide bridges.
Ma S et al.
Communications Biology, 2024
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
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
Bartter syndrome: causes, diagnosis, and treatment.
Cunha TDS et al.
International Journal of Nephrology and Renovascular Disease, 2018
Genetics of Magnesium Disorders.
Li H et al.
Kidney Diseases (basel, Switzerland), 2017
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
Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH).
Dong B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 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
Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C.
Choi KH et al.
Korean Journal of Pediatrics, 2015
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
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
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
Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes.
Sayer JA et al.
Clinical Endocrinology, 2003
Recent advances in molecular genetics of hereditary magnesium-losing disorders.
Konrad M et al.
Journal of the American Society of Nephrology : Jasn, 2003
Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.
Watanabe S et al.
Lancet (london, England), 2002
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