Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis

Towards a structural understanding of allosteric drugs at the human calcium-sensing receptor

(2016) Katie Leach et al.   CELL RESEARCH

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia

(2016) Heidi Murphy et al.   European Journal of Medical Genetics

Allosteric Modulation of the Calcium-sensing Receptor Rectifies Signaling Abnormalities Associated with G-protein α-11 Mutations Causing Hypercalcemic and Hypocalcemic Disorders

(2016) Valerie N. Babinsky et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)

(2016) Caroline M Gorvin et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Identification of a G-Protein Subunit-α11 Gain-of-Function Mutation, Val340Met, in a Family With Autosomal Dominant Hypocalcemia Type 2 (ADH2)

(2016) Sian E Piret et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences

(2016) Rosa Vargas-Poussou et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Localization and function of the renal calcium-sensing receptor

(2016) Daniela Riccardi et al.   Nature Reviews Nephrology

Cinacalcet for Symptomatic Hypercalcemia Caused by AP2S1 Mutations

(2016) Sarah A. Howles et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structural basis for regulation of human calcium-sensing receptor by magnesium ions and an unexpected tryptophan derivative co-agonist

(2016) C. Zhang et al.   Science Advances

Calcimimetic and Calcilytic Drugs: Feats, Flops, and Futures

(2015) E. F. Nemeth et al.   CALCIFIED TISSUE INTERNATIONAL

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)

(2015) Fadil M. Hannan et al.   ENDOCRINOLOGY

Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype–phenotype correlations, codon bias and dominant-negative effects

(2015) Fadil M. Hannan et al.   HUMAN MOLECULAR GENETICS

Calcilytic Ameliorates Abnormalities of Mutant Calcium-Sensing Receptor (CaSR) Knock-In Mice Mimicking Autosomal Dominant Hypocalcemia (ADH)

(2015) Bingzi Dong et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused byAP2S1Mutation

(2015) Sirpa Tenhola et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Letter to the Editor: Distinguishing Typical Primary Hyperparathyroidism From Familial Hypocalciuric Hypercalcemia by Using an Index of Urinary Calcium

(2015) Stephen J. Marx   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Probing Gαi1 protein activation at single–amino acid resolution

(2015) Dawei Sun et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Probing Gαi1 protein activation at single–amino acid resolution

(2015) Dawei Sun et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Novel homozygous inactivating mutation of the calcium-sensing receptor gene (CASR) in neonatal severe hyperparathyroidism—lack of effect of cinacalcet

(2014) Zeynep Atay et al.   BONE

A Conserved Phenylalanine as a Relay between the α5 Helix and the GDP Binding Region of Heterotrimeric GiProtein α Subunit

(2014) Ali I. Kaya et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mutational Analysis of the Adaptor Protein 2 Sigma Subunit (AP2S1) Gene: Search for Autosomal Dominant Hypocalcemia Type 3 (ADH3)

(2014) Angela Rogers et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation inGNA11: Phenotypic and Molecular Characterization

(2014) Dong Li et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Codon Arg15 Mutations of theAP2S1Gene: Common Occurrence in Familial Hypocalciuric Hypercalcemia Cases Negative for Calcium-Sensing Receptor (CASR) Mutations

(2014) Geoffrey N. Hendy et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Structure of class C GPCR metabotropic glutamate receptor 5 transmembrane domain

(2014) Andrew S. Doré et al.   NATURE

Role of Ca2+ and L-Phe in Regulating Functional Cooperativity of Disease-Associated “Toggle” Calcium-Sensing Receptor Mutations

(2014) Chen Zhang et al.   PLoS One

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

(2014) Saskia Letz et al.   PLoS One

Calcium-sensing receptor (CaSR) mutations and disorders of calcium, electrolyte and water metabolism

(2013) Fadil M. Hannan et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Calcimimetic and calcilytic drugs for treating bone and mineral-related disorders

(2013) Edward F. Nemeth et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Calcium-sensing receptor (CaSR): Pharmacological properties and signaling pathways

(2013) Arthur D. Conigrave et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

The calcium sensing receptor life cycle: Trafficking, cell surface expression, and degradation

(2013) Gerda E. Breitwieser   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2013) Katie Leach et al.   ENDOCRINOLOGY

Identification ofAP2S1Mutation and Effects of Low Calcium Formula in an Infant With Hypercalcemia and Hypercalciuria

(2013) Yasuko Fujisawa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Functional Activities of Mutant Calcium-Sensing Receptors Determine Clinical Presentations in Patients With Autosomal Dominant Hypocalcemia

(2013) Yuka Kinoshita et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Cinacalcet Monotherapy in Neonatal Severe Hyperparathyroidism: A Case Study and Review

(2013) Anthony W. Gannon et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Associations Between Bone Mineral Density and Subclinical Atherosclerosis: A Cross-Sectional Study of a Chinese Population

(2013) Dong-Ke Liang et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Germline Mutations Affecting Gα11 in Hypoparathyroidism

(2013) Michael Mannstadt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia

(2013) M. Andrew Nesbit et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structure-Function of the G Protein–Coupled Receptor Superfamily

(2012) Vsevolod Katritch et al.   Annual Review of Pharmacology and Toxicology

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

(2012) Katie Leach et al.   ENDOCRINOLOGY

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

(2012) Anne-Sophie Lia-Baldini et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites

(2012) F. M. Hannan et al.   HUMAN MOLECULAR GENETICS

PTH-independent regulation of blood calcium concentration by the calcium-sensing receptor

(2012) Alexandre Loupy et al.   JOURNAL OF CLINICAL INVESTIGATION

Calcium Signaling Regulates Trafficking of Familial Hypocalciuric Hypercalcemia (FHH) Mutants of the Calcium Sensing Receptor

(2012) Michael P. Grant et al.   MOLECULAR ENDOCRINOLOGY

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

(2012) M Andrew Nesbit et al.   NATURE GENETICS

Successful Use of Bisphosphonate and Calcimimetic in Neonatal Severe Primary Hyperparathyroidism

(2012) A. Wilhelm-Bals et al.   PEDIATRICS

Crystal structure of the β2 adrenergic receptor–Gs protein complex

(2011) Søren G. F. Rasmussen et al.   NATURE

Agonist-Driven Maturation and Plasma Membrane Insertion of Calcium-Sensing Receptors Dynamically Control Signal Amplitude

(2011) M. P. Grant et al.   Science Signaling

A homozygous inactivating calcium-sensing receptor mutation, Pro339Thr, is associated with isolated primary hyperparathyroidism: correlation between location of mutations and severity of hypercalcaemia

(2010) Fadil M. Hannan et al.   CLINICAL ENDOCRINOLOGY

Identification of a Second Kindred with Familial Hypocalciuric Hypercalcemia Type 3 (FHH3) Narrows Localization to a

(2010) M. Andrew Nesbit et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Novel Activating Mutations of the Calcium-Sensing Receptor: The Calcilytic NPS-2143 Mitigates Excessive Signal Transduction of Mutant Receptors

(2010) Saskia Letz et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations inGNA11in Uveal Melanoma

(2010) Catherine D. Van Raamsdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Structural basis for the specific inhibition of heterotrimeric Gq protein by a small molecule

(2010) A. Nishimura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Comparison of human chromosome 19q13 and syntenic region on mouse chromosome 7 reveals absence, in man, of 11.6 Mb containing four mouse calcium-sensing receptor-related sequences: relevance to familial benign hypocalciuric hypercalcaemia type 3

(2009) Fadil M Hannan et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Familial hypocalciuric hypercalcemia revealed by chondrocalcinosis

(2009) Alessandro Volpe et al.   JOINT BONE SPINE

Pharmacochaperone-Mediated Rescue of Calcium-Sensing Receptor Loss-of-Function Mutants

(2009) Elissa White et al.   MOLECULAR ENDOCRINOLOGY

Multiple Ca2+-Binding Sites in the Extracellular Domain of the Ca2+-Sensing Receptor Corresponding to Cooperative Ca2+Response†

(2008) Yun Huang et al.   BIOCHEMISTRY

Anatomical Profiling of G Protein-Coupled Receptor Expression

(2008) Jean B. Regard et al.   CELL

PTH(1-34) Replacement Therapy in a Child With Hypoparathyroidism Caused by a Sporadic Calcium Receptor Mutation

(2008) Todd A Theman et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Novel Inactivating Mutations of the Calcium-Sensing Receptor: The Calcimimetic NPS R-568 Improves Signal Transduction of Mutant Receptors

(2008) Ramona Rus et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

A structural explanation for the binding of endocytic dileucine motifs by the AP2 complex

(2008) Bernard T. Kelly et al.   NATURE

Heterotrimeric G protein activation by G-protein-coupled receptors

(2007) William M. Oldham et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY