original ) (raw )Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors
Dirk Schnabel
The Journal of Clinical Endocrinology & Metabolism, 2010
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Gα11 mutation in mice causes hypocalcemia rectifiable by calcilytic therapy
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Novel Inactivating Mutations of the Calcium-Sensing Receptor: The Calcimimetic NPS R-568 Improves Signal Transduction of Mutant Receptors
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The Journal of Clinical Endocrinology and Metabolism, 2008
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GENETICS IN ENDOCRINOLOGY: Gain and Loss of Function Mutations of the Calcium Sensing Receptor and Associated Proteins: Current Treatment Concepts
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European Journal of Endocrinology, 2015
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Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor
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Molecular and cellular endocrinology, 2016
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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
Kaoru Takegawa
The Journal of Clinical Endocrinology & Metabolism, 2013
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CASR gene activating mutations in two families with autosomal dominant hypocalcemia
Franco Grimaldi
Molecular Genetics and Metabolism, 2012
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Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia
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Journal of Pediatric Genetics, 2015
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A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
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BMC Endocrine Disorders, 2014
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PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor
Kamel Laghmani
Journal of Clinical Investigation, 2012
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A novel mutation in the calcium-sensing receptor responsible for autosomal dominant hypocalcemia in a family with two uncommon parathyroid hormone polymorphisms
Minerva Rodríguez
Journal of Molecular Endocrinology, 2003
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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
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European Journal of Endocrinology, 2013
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A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor
Pat Kendall-Taylor
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A novel mutation in the Calcium-Sensing Receptor in a French family with Familial Hypocalciuric Hypercalcaemia
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Mutant mice with calcium-sensing receptor (CaSR) activation have hyperglycemia, that is rectified by calcilytic therapy
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Pharmacology of the calcium sensing receptor
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Clinical cases in mineral and bone metabolism : the official journal of the Italian Society of Osteoporosis, Mineral Metabolism, and Skeletal Diseases, 2013
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Calcium-Sensing Receptor ( CASR ) Mutations in Hypercalcemic States: Studies from a Single Endocrine Clinic Over Three Years
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The Journal of Clinical Endocrinology & Metabolism, 2010
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Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
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A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia
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2011
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Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density
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Clinical Endocrinology, 2006
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Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS …
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Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1
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Hormones (Athens, Greece), 2017
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Impact of Clinically Relevant Mutations on the Pharmacoregulation and Signaling Bias of the Calcium-Sensing Receptor by Positive and Negative Allosteric Modulators
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Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome
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Journal of the American Society of Nephrology : JASN, 2002
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Recombinant human parathyroid hormone (1–84) is effective in CASR-associated hypoparathyroidism
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The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone
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Characterization of Highly Efficacious Allosteric Agonists of the Human Calcium-Sensing Receptor
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Human Calcium-sensing Receptor Gene
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Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
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