4.6 Review

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

Related references

Note: Only part of the references are listed.
Article Biochemistry & Molecular Biology

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

Anna Chiarini et al.

CURRENT PHARMACEUTICAL BIOTECHNOLOGY (2015)

Review Physiology

The calcium-sensing receptor: one of a kind

Irene Lopez-Fernandez et al.

EXPERIMENTAL PHYSIOLOGY (2015)

Article Endocrinology & Metabolism

Polyclonality of Parathyroid Tumors in Neonatal Severe Hyperparathyroidism

Kristin R. Corrado et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2015)

Review Endocrinology & Metabolism

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

David Goltzman et al.

NATURE REVIEWS ENDOCRINOLOGY (2015)

Review Endocrinology & Metabolism

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

Ya-Xiong Tao et al.

ENDOCRINE REVIEWS (2014)

Meeting Abstract Endocrinology & Metabolism

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

S. Letz et al.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2014)

Meeting Abstract Endocrinology & Metabolism

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

D. Schnabel et al.

EXPERIMENTAL AND CLINICAL ENDOCRINOLOGY & DIABETES (2014)

Article Endocrinology & Metabolism

A Homozygous CaSR Mutation Causing a FHH Phenotype Completely Masked by Vitamin D Deficiency Presenting as Rickets

Dorothea Szczawinska et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

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

Yuka Kinoshita et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

Autosomal Dominant Hypoparathyroidism Caused by Germline Mutation in GNA11: Phenotypic and Molecular Characterization

Dong Li et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

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

Anthony W. Gannon et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Endocrinology & Metabolism

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

Alicia Diaz-Thomas et al.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2014)

Review Pharmacology & Pharmacy

Pharmacoperones and the calcium sensing receptor: Exogenous and endogenous regulators

Gerda E. Breitwieser

PHARMACOLOGICAL RESEARCH (2014)

Article Endocrinology & Metabolism

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

Eugenio Mastromatteo et al.

BMC ENDOCRINE DISORDERS (2014)

Article Endocrinology & Metabolism

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

Edward F. Nemeth et al.

BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2013)

Article Endocrinology & Metabolism

Cinacalcet as Adjunctive Therapy for Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

Tarak Srivastava et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2013)

Article Genetics & Heredity

Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3

M. Andrew Nesbit et al.

NATURE GENETICS (2013)

Letter Medicine, General & Internal

Germline Mutations Affecting Gα11 in Hypoparathyroidism

Michael Mannstadt et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Article Medicine, General & Internal

Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia

M. Andrew Nesbit et al.

NEW ENGLAND JOURNAL OF MEDICINE (2013)

Review Pharmacology & Pharmacy

New concepts in calcium-sensing receptor pharmacology and signalling

Donald T. Ward et al.

BRITISH JOURNAL OF PHARMACOLOGY (2012)

Article Endocrinology & Metabolism

Long-Term Follow-Up of Patients with Hypoparathyroidism

Deborah M. Mitchell et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Endocrinology & Metabolism

A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia

Ksenia N. Tonyushkina et al.

INTERNATIONAL JOURNAL OF PEDIATRIC ENDOCRINOLOGY (2012)

Article Pediatrics

Neonatal severe hyperparathyroidism: further clinical and molecular delineation

Fawziya A. Al-Khalaf et al.

EUROPEAN JOURNAL OF PEDIATRICS (2011)

Review Chemistry, Medicinal

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

Leo Widler

FUTURE MEDICINAL CHEMISTRY (2011)

Article Endocrinology & Metabolism

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

Christina M. S. Reh et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2011)

Review Pediatrics

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

Hannsjoerg W. Seyberth et al.

PEDIATRIC NEPHROLOGY (2011)

Article Pharmacology & Pharmacy

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

Edward M. Brown

BIOCHEMICAL PHARMACOLOGY (2010)

Article Endocrinology & Metabolism

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

Daniel Alvarez-Hernandez et al.

CALCIFIED TISSUE INTERNATIONAL (2010)

Article Endocrinology & Metabolism

Phenotypic Variation in a Large Family with Autosomal Dominant Hypocalcaemia

J. I. Sorheim et al.

HORMONE RESEARCH IN PAEDIATRICS (2010)

Article Endocrinology & Metabolism

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

Saskia Letz et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2010)

Article Endocrinology & Metabolism

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

Annalisa Terranegra et al.

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2010)

Review Physiology

Physiology and pathophysiology of the calcium-sensing receptor in the kidney

Daniela Riccardi et al.

AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY (2010)

Article Endocrinology & Metabolism

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

Todd A. Theman et al.

JOURNAL OF BONE AND MINERAL RESEARCH (2009)

Article Endocrinology & Metabolism

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

Elissa White et al.

MOLECULAR ENDOCRINOLOGY (2009)

Article Rheumatology

Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations

Ogo I. Egbuna et al.

BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY (2008)

Article Urology & Nephrology

Calcimimetics as an adjuvant treatment for familial hypophosphatemic rickets

Uri S. Alon et al.

CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2008)

Article Endocrinology & Metabolism

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

Ramona Rus et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Pediatrics

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

Jutta Muscheites et al.

PEDIATRIC NEPHROLOGY (2008)

Article Biochemistry & Molecular Biology

Rescue of calcium-sensing receptor mutants by allosteric modulators reveals a conformational checkpoint in receptor biogenesis

Ying Huang et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Article Endocrinology & Metabolism

A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: Successful treatment with recombinant human parathyroid hormone

Steven D. Mittelman et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Biochemistry & Molecular Biology

A region in the seven-transmembrane domain of the human Ca2+ receptor critical for response to Ca2+

JX Hu et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2005)

Article Endocrinology & Metabolism

Cinacalcet hydrochloride maintains long-term normocalcemia in patients with primary hyperparathyroidism

M Peacock et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)

Article Endocrinology & Metabolism

Blood ionized calcium is associated with clustered polymorphisms in the carboxyl-terminal tail of the calcium-sensing receptor

A Scillitani et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2004)

Review Cell Biology

Extracellular calcium sensing and signalling

AM Hofer et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2003)

Article Endocrinology & Metabolism

Autosomal dominant hypocalcemia: A novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor

YM Tan et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)

Article Urology & Nephrology

Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome

R Vargas-Poussou et al.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2002)

Article Endocrinology & Metabolism

The search for calcium receptor antagonists (calcilytics)

EF Nemeth

JOURNAL OF MOLECULAR ENDOCRINOLOGY (2002)

Article Medicine, Research & Experimental

Antagonizing the parathyroid calcium receptor stimulates parathyroid hormone secretion and bone formation in osteopenic rats

M Gowen et al.

JOURNAL OF CLINICAL INVESTIGATION (2000)