Novel inactivating mutations of the calcium-sensing receptor: the calcimimetic NPS … (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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Novel Inactivating Mutations of the Calcium-Sensing Receptor: The Calcimimetic NPS R-568 Improves Signal Transduction of Mutant Receptors

Friedhelm Raue

The Journal of Clinical Endocrinology and Metabolism, 2008

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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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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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Mutations of calcium-sensing receptor gene: two novel mutations and overview of impact on calcium homeostasis

Adrian Daly

European journal of endocrinology / European Federation of Endocrine Societies, 2011

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Human Calcium-sensing Receptor Gene

Lucie Canaff

Journal of Biological Chemistry, 2002

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Residue 826 in the Calcium-Sensing Receptor Is Implicated in the Response to Calcium and to R-568 Calcimimetic Compound

Isabel Rodríguez

Calcified Tissue International, 2010

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Identification of Molecular Phenotypes and Biased Signaling Induced by Naturally Occurring Mutations of the Human Calcium-Sensing Receptor

Katie Leach

Endocrinology, 2012

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Calcium-sensing receptor 20 years later

ahmad saleh

American journal of physiology. Cell physiology, 2014

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Calcimimetic R-568 effects on activity of R990G polymorphism of calcium-sensing receptor

Anita Ferraretto, Andrea Aloia, L. Soldati

Journal of Molecular Endocrinology, 2010

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Identification of Serine-875 as an Inhibitory Phosphorylation Site in the Calcium-Sensing Receptor

Lenah Binmahfouz

Molecular Pharmacology, 2019

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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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Impact of Clinically Relevant Mutations on the Pharmacoregulation and Signaling Bias of the Calcium-Sensing Receptor by Positive and Negative Allosteric Modulators

Katie Leach

Endocrinology, 2013

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Excessive Signal Transduction of Gain-of-Function Variants of the Calcium-Sensing Receptor (CaSR) Are Associated with Increased ER to Cytosol Calcium Gradient

Marianna Ranieri, Giovanna Valenti

PLoS ONE, 2013

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Naturally-Occurring Mutation in the Calcium-Sensing Receptor Reveals the Significance of Extracellular Domain Loop III Region for Class C G-Protein-Coupled Receptor Function

Brigitte Blackman

The Journal of Clinical Endocrinology and Metabolism, 2010

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Dimerization of the Calcium-sensing Receptor Occurs within the Extracellular Domain and Is Eliminated by Cys right-arrow Ser Mutations at Cys101 and Cys236

Gerda Breitwieser

Journal of Biological Chemistry, 1999

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Pharmacology of the calcium sensing receptor

S. Corbetta

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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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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Calcium-sensing receptor (version 2020.5) in the IUPHAR/BPS Guide to Pharmacology Database

Arthur Conigrave

IUPHAR/BPS Guide to Pharmacology CITE

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Diseases associated with calcium-sensing receptor

M. Odou

Orphanet Journal of Rare Diseases, 2017

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A novel mutation of the calcium-sensing receptor gene in a Greek family from Nisyros

THEODORA MARGARITI

HORMONES, 2015

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The impact of functional characterization of variants in calcium sensing receptor gene (CASR) on the clinical diagnosis

stephane allouche

HAL (Le Centre pour la Communication Scientifique Directe), 2022

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Calcium Sensing Receptor Activation by a Calcimimetic Suggests a Link between Cooperativity and Intracellular Calcium Oscillations

Gerda Breitwieser

Journal of Biological Chemistry, 2002

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Functional Importance of the Ala116–Pro136 Region in the Calcium-sensing Receptor

Anders Jensen

Journal of Biological …, 2000

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Calcium-sensing receptor (version 2019.4) in the IUPHAR/BPS Guide to Pharmacology Database

Katie Leach

IUPHAR/BPS Guide to Pharmacology CITE

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Novel mutations associated with inherited human calcium-sensing receptor disorders: a clinical genetic study

Leire Madariaga

European Journal of Endocrinology

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Pharmacoperones and the calcium sensing receptor: exogenous and endogenous regulators

Gerda Breitwieser

Pharmacological research : the official journal of the Italian Pharmacological Society, 2014

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