Associated Papers
A calcium-sensing receptor allelic series and underdiagnosis of genetically driven hypocalcemia.
Chang JB et al.
American Journal of Human Genetics, 2025
Seizures due to Autosomal Dominant Hypocalcemia-Type 1.
Raha SJ et al.
Indian Journal of Pediatrics, 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
Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures.
Teleanu RI et al.
Children (basel, Switzerland), 2023
Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications.
Elston MS et al.
Journal of the Endocrine Society, 2022
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Wang Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2019
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
García-Castaño A et al.
European Journal of Endocrinology, 2019
Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report.
Rossi GC et al.
Child Neurology Open, 2019
Diagnostic strategy for inherited hypomagnesemia.
Horinouchi T et al.
Clinical and Experimental Nephrology, 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
Pathogenesis of hypokalemia in autosomal dominant hypocalcemia type 1.
Kamiyoshi N et al.
Clinical and Experimental Nephrology, 2016
Structure-Based Sequence Alignment of the Transmembrane Domains of All Human GPCRs: Phylogenetic, Structural and Functional Implications.
Cvicek V et al.
Plos Computational Biology, 2016
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
Baran N et al.
Molecular and Cellular Endocrinology, 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
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
Loss-of-function and gain-of-function mutations of calcium-sensing receptor: functional analysis and the effect of allosteric modulators NPS R-568 and NPS 2143.
Nakamura A et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
Pharmacochaperone-mediated rescue of calcium-sensing receptor loss-of-function mutants.
White E et al.
Molecular Endocrinology (baltimore, Md.), 2009
Activation switch in the transmembrane domain of metabotropic glutamate receptor.
Yanagawa M et al.
Molecular Pharmacology, 2009
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
Severe hypocalcemia due to a de novo mutation in the fifth transmembrane domain of the calcium-sensing receptor.
Mora S et al.
American Journal of Medical Genetics. Part A, 2006
Genetic variation in G-protein-coupled receptors--consequences for G-protein-coupled receptors as drug targets.
Tang CM et al.
Expert Opinion on Therapeutic Targets, 2005
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
A novel gain-of-function mutation (F821L) in the transmembrane domain of calcium-sensing receptor is a cause of severe sporadic hypoparathyroidism.
Shiohara M et al.
European Journal of Pediatrics, 2004
Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.
Hendy GN et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Identification of acidic residues in the extracellular loops of the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+ and a positive allosteric modulator.
Hu J et al.
The Journal of Biological Chemistry, 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
[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
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
Functional importance of the Ala(116)-Pro(136) region in the calcium-sensing receptor. Constitutive activity and inverse agonism in a family C G-protein-coupled receptor.
Jensen AA et al.
The Journal of Biological Chemistry, 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
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
Lienhardt A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
A missense mutation in the seventh transmembrane domain constitutively activates the human Ca2+ receptor.
Zhao XM et al.
Febs Letters, 1999
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
Okazaki R et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
Watanabe T et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
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