original ) (raw )Functional characterization of calcium sensing receptor polymorphisms and absence of association with indices of calcium homeostasis and bone mineral density
Geeta Hampson
Clinical Endocrinology, 2006
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A Familial Syndrome of Hypocalcemia with Hypercalciuria Due to Mutations in the Calcium-Sensing Receptor
Pat Kendall-Taylor
New England Journal of Medicine, 1996
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Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
Hae Cheong
Korean journal of pediatrics, 2015
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Autosomal dominant hypocalcemia due to a truncation in the C-tail of the calcium-sensing receptor
Annalisa Terranegra
Molecular and cellular endocrinology, 2016
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A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria
Michela Campo
BMC Endocrine Disorders, 2014
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Extracellular calcium-sensing receptor dysfunction is associated with two new phenotypes
John Sayer
Clinical Endocrinology, 2003
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Autosomal Dominant Hypocalcemia: A Novel Activating Mutation (E604K) in the Cysteine-Rich Domain of the Calcium-Sensing Receptor
Arthur Conigrave
The Journal of Clinical Endocrinology & Metabolism, 2003
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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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Functional Characterization of a Calcium-Sensing Receptor-Polycystin-2 Channel Complex in the Plasma Membrane of LLC-PK1 Cells
Noelia Scarinci
Biophysical Journal, 2018
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Identification and Functional Characterization of a Calcium-Sensing Receptor Mutation in an Infant with Familial Hypocalciuric Hypercalcemia
Tania Siahanidou
Journal of Clinical Research in Pediatric Endocrinology, 2016
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A novel mutation of the primary protein kinase C phosphorylation site in the calcium-sensing receptor causes autosomal dominant hypocalcemia
Arthur Conigrave
2011
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Rare diseases caused by abnormal calcium sensing and signalling
Miklós Tóth
Endocrine
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A novel mutation in the Calcium-Sensing Receptor in a French family with Familial Hypocalciuric Hypercalcaemia
Abdallah Salameh
European Journal of …, 2011
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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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Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor
Niklas Dahl
Journal of Clinical …, 2000
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Familial hypercalcemia and hypercalciuria: no mutations in the Ca 2+ -sensing receptor gene
Guiomar Perez de Nanclares
Pediatric Nephrology, 2001
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Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia
lurdes lopes
Journal of Pediatric Genetics, 2015
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Diseases associated with calcium-sensing receptor
M. Odou
Orphanet Journal of Rare Diseases, 2017
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A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
Kyung Song
Yonsei Medical Journal, 2006
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Calcium-Sensing Receptor ( CASR ) Mutations in Hypercalcemic States: Studies from a Single Endocrine Clinic Over Three Years
Lucia Anna Muscarella
The Journal of Clinical Endocrinology & Metabolism, 2010
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Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome
Giuseppe Bianchi
Journal of Nephrology, 2006
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The calcilytic agent NPS 2143 rectifies hypocalcemia in a mouse model with an activating calcium-sensing-receptor (CaSR) mutation: relevance to autosomal dominant hypocalcemia type 1 (ADH1)
Andrew Nesbit
Endocrinology, 2015
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Localization and function of the renal calcium-sensing receptor
Giovanna Valenti
Nature Reviews Nephrology, 2016
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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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Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
Kwang-won Kim
Journal of Korean Medical Science, 2010
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Clinical characterization of a novel calcium sensing receptor genetic alteration in a Greek patient with autosomal dominant hypocalcemia type 1
Anna Papadopoulou
Hormones (Athens, Greece), 2017
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Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population
Claudio Musetti , Marco Quaglia
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 2014
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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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Recurrent Familial Hypocalcemia Due to Germline Mosaicism for an Activating Mutation of the Calcium-Sensing Receptor Gene
Lucie Canaff
The Journal of Clinical Endocrinology & Metabolism, 2003
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Calcium-Regulated Renal Calcium Handling in Healthy Men: Relationship to Sodium Handling 1
julian seifter
The Journal of Clinical Endocrinology & Metabolism, 1998
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R990G polymorphism of calcium-sensing receptor does produce a gain-of-function and predispose to primary hypercalciuria
HAFSA MAJID
2007
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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
Franck Sturtz
European Journal of Endocrinology, 2013
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Molecular Genetic Analysis of the Calcium Sensing Receptor Gene in Patients Clinically Suspected to Have Familial Hypocalciuric Hypercalcemia: Phenotypic Variation and Mutation Spectrum in a Danish Population
Leif Mosekilde
The Journal of Clinical Endocrinology & Metabolism, 2007
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