Associated Papers
Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.
Wejaphikul K et al.
Hormone Research in Paediatrics, 2023
Mechanism of sensitivity modulation in the calcium-sensing receptor via electrostatic tuning.
Schamber MR et al.
Nature Communications, 2022
A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery.
Veldeman L et al.
Calcified Tissue International, 2020
Molecular and clinical insights from studies of calcium-sensing receptor mutations.
Gorvin CM
Journal of Molecular Endocrinology, 2019
Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype.
Glaudo M et al.
European Journal of Endocrinology, 2016
Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis.
Hannan FM et al.
Journal of Molecular Endocrinology, 2016
Structural mechanism of ligand activation in human calcium-sensing receptor.
Geng Y et al.
Elife, 2016
GENETICS IN ENDOCRINOLOGY: Gain and loss of function mutations of the calcium-sensing receptor and associated proteins: current treatment concepts.
Mayr B et al.
European Journal of Endocrinology, 2016
Molecular Basis of the Extracellular Ligands Mediated Signaling by the Calcium Sensing Receptor.
Zhang C et al.
Frontiers in Physiology, 2016
Unusually severe phenotype of neonatal primary hyperparathyroidism due to a heterozygous inactivating mutation in the CASR gene.
Obermannova B et al.
European Journal of Pediatrics, 2009
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene.
Tõke J et al.
Clinical Endocrinology, 2007
Identification and functional characterization of a novel mutation in the calcium-sensing receptor gene in familial hypocalciuric hypercalcemia: modulation of clinical severity by vitamin D status.
Zajickova K et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.
Yun FH et al.
Clinical Biochemistry, 2007
Inactivating mutations of G protein-coupled receptors and diseases: structure-function insights and therapeutic implications.
Tao YX
Pharmacology & Therapeutics, 2006
Novel mutations in the calcium-sensing receptor gene associated with biochemical and functional differences in familial hypocalciuric hypercalcaemia.
Ward BK et al.
Clinical Endocrinology, 2006
Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism.
Wystrychowski A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Editorial: mutant extracellular calcium-sensing receptors and severity of disease.
Brown EM
The Journal of Clinical Endocrinology and Metabolism, 2005
Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.
Hu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2004
Familial hypocalciuric hypercalcemia in a woman with metastatic breast cancer: a case report of mistaken identity.
Marcocci C et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
[Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism caused by inactivating mutations of calcium-sensing receptor].
Watanabe S et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2002
Clinical disorders of extracellular calcium-sensing and the molecular biology of the calcium-sensing receptor.
Pearce SH
Annals of Medicine, 2002
A novel mutation in Ca2+-sensing receptor gene in familial hypocalciuric hypercalcemia.
Nakayama T et al.
Endocrine, 2001
Extracellular calcium-sensing receptor: structural and functional features and association with diseases.
Hauache OM
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2001
Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia.
Hendy GN et al.
Human Mutation, 2000
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
[Controversial opinions regarding the role of Bcml vitamin D receptor gene polymorphism on parathyroid function, calcium absorption and bone mineral density in persons with normal renal function and patients with chronic renal failure].
Maik J et al.
Przeglad Lekarski, 1999
Disorders of the calcium-sensing receptor.
Thakker RV
Biochimica Et Biophysica Acta, 1998
Molecular biology and clinical importance of the Ca(2+)-sensing receptor.
De Luca F et al.
Current Opinion in Pediatrics, 1998
Mutations in the calcium-sensing receptor and their clinical implications.
Brown EM
Hormone Research, 1997
Functional characterization of calcium-sensing receptor mutations expressed in human embryonic kidney cells.
Pearce SH et al.
The Journal of Clinical Investigation, 1996
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.
Pearce SH et al.
The Journal of Clinical Investigation, 1995
Structure and function of the human calcium-sensing receptor: insights from natural and engineered mutations and allosteric modulators.
Hu J et al.
Journal of Cellular and Molecular Medicine, 0