GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts

Preventing the Spread of Alzheimer’s Disease Neuropathology: A Role for Calcilytics?

(2015) Anna Chiarini et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

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

The calcium-sensing receptor: one of a kind

(2015) Irene Lopez-Fernandez et al.   EXPERIMENTAL PHYSIOLOGY

Polyclonality of Parathyroid Tumors in Neonatal Severe Hyperparathyroidism

(2015) Kristin R Corrado et al.   JOURNAL OF BONE AND MINERAL RESEARCH

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

The calcium-sensing receptor in bone—mechanistic and therapeutic insights

(2015) David Goltzman et al.   Nature Reviews Endocrinology

A phase 2 study of MK-5442, a calcium-sensing receptor antagonist, in postmenopausal women with osteoporosis after long-term use of oral bisphosphonates

(2015) F. Cosman et al.   OSTEOPOROSIS INTERNATIONAL

Calcium-sensing receptor antagonists abrogate airway hyperresponsiveness and inflammation in allergic asthma

(2015) Polina L. Yarova et al.   Science Translational Medicine

Inhibition of Excessive Cell Proliferation by Calcilytics in Idiopathic Pulmonary Arterial Hypertension

(2015) Aya Yamamura et al.   PLoS One

Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literature review

(2014) Signe B Thim et al.   ACTA PAEDIATRICA

AXT914 a novel, orally-active parathyroid hormone-releasing drug in two early studies of healthy volunteers and postmenopausal women

(2014) Markus R. John et al.   BONE

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

Chaperoning G Protein-Coupled Receptors: From Cell Biology to Therapeutics

(2014) Ya-Xiong Tao et al.   ENDOCRINE REVIEWS

The PRIMARA study: a prospective, descriptive, observational study to review cinacalcet use in patients with primary hyperparathyroidism in clinical practice

(2014) P Schwarz et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

CaSR mutants disrupting the disulfide bond between C582 and C568 in the cysteine-rich domain of the CaSR do not act as dominant negative mutants

(2014) S Letz et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Severe but not neonatally lethal. A homozygous inactivating CaSR mutation in a 3 year old child

(2014) D Schnabel et al.   EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES

Neonatal Severe Hyperparathyroidism due to Compound Heterozygous Mutation of Calcium Sensing Receptor (CaSR) Gene Presenting as Encephalopathy

(2014) Abhishek Kulkarni et al.   INDIAN JOURNAL OF PEDIATRICS

A HomozygousCaSRMutation Causing a FHH Phenotype Completely Masked by Vitamin D Deficiency Presenting as Rickets

(2014) Dorothea Szczawinska 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

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder

(2014) Alicia Diaz-Thomas et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

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

A novel mutation in calcium-sensing receptor gene associated to hypercalcemia and hypercalciuria

(2014) Eugenio Mastromatteo et al.   BMC Endocrine Disorders

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

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

Characterization of the effect of chronic administration of a calcium-sensing receptor antagonist, ronacaleret, on renal calcium excretion and serum calcium in postmenopausal women

(2013) Stephen Caltabiano et al.   BONE

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

Extrapyramidal Symptoms and Advanced Calcification of the Basal Ganglia in a Patient with Autosomal Dominant Hypocalcemia

(2013) Akira Kurozumi et al.   INTERNAL MEDICINE

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

(2013) Akie Nakamura 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

Neonatal Hypercalcemia due to a Homozygous Mutation in the Calcium-Sensing Receptor: Failure of Cinacalcet

(2013) Eduardo García Soblechero et al.   Neonatology

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

Pharmacoperones and the calcium sensing receptor: Exogenous and endogenous regulators

(2013) Gerda E. Breitwieser   PHARMACOLOGICAL RESEARCH

Cinacalcet in Patients with Chronic Kidney Disease: A Cumulative Meta-Analysis of Randomized Controlled Trials

(2013) Suetonia C. Palmer et al.   PLOS MEDICINE

Identification and characterization of D410E, a novel mutation in the loop 3 domain of CASR, in autosomal dominant hypocalcemia and a therapeutic approach using a novel calcilytic, AXT914

(2012) So Young Park et al.   CLINICAL ENDOCRINOLOGY

Pharmacokinetic and Pharmacodynamic Properties of the Calcimimetic Agent Cinacalcet (KRN1493) in Healthy Male Korean Subjects: A Randomized, Open-Label, Single Ascending–Dose, Parallel-Group Study

(2012) SeungHwan Lee et al.   CLINICAL THERAPEUTICS

Recombinant Human Parathyroid Hormone Therapy (1-34) in an Adult Patient with a Gain-of-Function Mutation in the Calcium-Sensing Receptor—A Case Report

(2012) Michael Gonzales et al.   Endocrine Practice

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

Cinacalcet as adjunctive therapy for hereditary 1,25-dihydroxyvitamin D-resistant rickets

(2012) Tarak Srivastava et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Long-Term Follow-Up of Patients with Hypoparathyroidism

(2012) Deborah M. Mitchell et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Minireview: The Intimate Link Between Calcium Sensing Receptor Trafficking and Signaling: Implications for Disorders of Calcium Homeostasis

(2012) Gerda E. Breitwieser   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

New concepts in calcium-sensing receptor pharmacology and signalling

(2011) Donald T Ward et al.   BRITISH JOURNAL OF PHARMACOLOGY

Activating mutations in the calcium-sensing receptor: genetic and clinical spectrum in 25 patients with autosomal dominant hypocalcaemia - a German survey

(2011) Friedhelm Raue et al.   CLINICAL ENDOCRINOLOGY

Calcilytics: antagonists of the calcium-sensing receptor for the treatment of osteoporosis

(2011) Leo Widler   Future Medicinal Chemistry

Neonatal Hyperparathyroidism with a Heterozygous Calcium-Sensing Receptor (CASR) R185Q Mutation: Clinical Benefit from Cinacalcet

(2011) Christina M. S. Reh et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Effects of Ronacaleret, a Calcium-Sensing Receptor Antagonist, on Bone Mineral Density and Biochemical Markers of Bone Turnover in Postmenopausal Women with Low Bone Mineral Density

(2011) Lorraine A. Fitzpatrick et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Autosomal Dominant Hypoparathyroidism with Severe Hypomagnesemia and Hypocalcemia, Successfully Treated with Recombinant PTH and Continuous Subcutaneous Magnesium Infusion

(2011) S. Sanda et al.   JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM

Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects

(2011) Hannsjörg W. Seyberth et al.   PEDIATRIC NEPHROLOGY

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

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

Clinical utility of calcimimetics targeting the extracellular calcium-sensing receptor (CaSR)

(2010) Edward M. Brown   BIOCHEMICAL PHARMACOLOGY

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

(2010) Daniel Álvarez-Hernández et al.   CALCIFIED TISSUE INTERNATIONAL

Neonatal severe hyperparathyroidism: further clinical and molecular delineation

(2010) Fawziya A. Al-Khalaf et al.   EUROPEAN JOURNAL OF PEDIATRICS

Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia

(2010) J.I. Sørheim et al.   Hormone Research in Paediatrics

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

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

(2010) Annalisa Terranegra et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Beneficial effect of cinacalcet in a child with familial hypocalciuric hypercalcemia

(2010) Uri S. Alon et al.   PEDIATRIC NEPHROLOGY

A Novel Loss-of-Function Mutation, Gln459Arg, of the Calcium-Sensing Receptor Gene Associated with Apparent Autosomal Recessive Inheritance of Familial Hypocalciuric Hypercalcemia

(2009) Steven A. Lietman et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Effect of the Calcimimetic R-568 [3-(2-Chlorophenyl)-N-((1R)-1-(3-methoxyphenyl)ethyl)-1-propanamine] on Correcting Inactivating Mutations in the Human Calcium-Sensing Receptor

(2009) J. Y. L. Lu et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

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

(2009) Elissa White et al.   MOLECULAR ENDOCRINOLOGY

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

(2008) Ogo I. Egbuna et al.   BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Calcimimetics as an Adjuvant Treatment for Familial Hypophosphatemic Rickets

(2008) U. S. Alon et al.   Clinical Journal of the American Society of Nephrology

Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene

(2008) Barbora Obermannova et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Cinacalcet for secondary hyperparathyroidism in children with end-stage renal disease

(2008) Jutta Muscheites et al.   PEDIATRIC NEPHROLOGY