Associated Papers
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
Intracellular Ca(2+) oscillations generated via the extracellular Ca(2+)-sensing receptor (CaSR) in response to extracellular Ca(2+) or L-phenylalanine: Impact of the highly conservative mutation Ser170Thr.
Young SH et al.
Biochemical and Biophysical Research Communications, 2015
Novel activating mutation of human calcium-sensing receptor in a family with autosomal dominant hypocalcaemia.
Baran N et al.
Molecular and Cellular Endocrinology, 2015
Epigenetic regulation of microRNAs controlling CLDN14 expression as a mechanism for renal calcium handling.
Gong Y et al.
Journal of the American Society of Nephrology : Jasn, 2015
Four cases of autosomal dominant hypocalcaemia with hypercalciuria including two with novel mutations in the calcium-sensing receptor gene.
Schouten BJ et al.
Annals of Clinical Biochemistry, 2011
Inherited disorders of calcium homeostasis.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2008
G protein-coupled receptors disrupted in human genetic disease.
Thompson MD et al.
Methods in Molecular Biology (clifton, N.j.), 2008
Sequence-based prioritization of nonsynonymous single-nucleotide polymorphisms for the study of disease mutations.
Jiang R et al.
American Journal of Human Genetics, 2007
The calcium-sensing receptor: physiology, pathophysiology and CaR-based therapeutics.
Brown EM
Sub-cellular Biochemistry, 2007
The calcium-sensing receptor in normal physiology and pathophysiology: a review.
Tfelt-Hansen J et al.
Critical Reviews in Clinical Laboratory Sciences, 2005
Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review.
Gunn IR et al.
Annals of Clinical Biochemistry, 2004
[The human calcium-sensing receptor's role in illness and targets for therapy].
Tfelt-Hansen J et al.
Ugeskrift for Laeger, 2003
The calcium-sensing receptor in human disease.
Tfelt-Hansen J et al.
Frontiers in Bioscience : a Journal and Virtual Library, 2003
Autosomal dominant hypocalcemia caused by a novel mutation in the loop 2 region of the human calcium receptor extracellular domain.
Hu J et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2002
[Activating mutations of calcium-sensing receptor cause insufficient secretion of parathyroid hormone].
Fukumoto S
Clinical Calcium, 2001
Activating mutations of the calcium-sensing receptor: management of hypocalcemia.
Lienhardt A et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
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
A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.
Lienhardt A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Identification of the cysteine residues in the amino-terminal extracellular domain of the human Ca(2+) receptor critical for dimerization. Implications for function of monomeric Ca(2+) receptor.
Ray K et al.
The Journal of Biological Chemistry, 1999
A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.
Okazaki R et al.
The Journal of Clinical Endocrinology and Metabolism, 1999
[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
Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.
Watanabe T et al.
The Journal of Clinical Endocrinology and Metabolism, 1998
Mutations in the calcium-sensing receptor and their clinical implications.
Brown EM
Hormone Research, 1997
A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.
Pearce SH et al.
The New England Journal of Medicine, 1996
Expression and characterization of inactivating and activating mutations in the human Ca2+o-sensing receptor.
Bai M et al.
The Journal of Biological Chemistry, 1996
The calcium-sensing receptor (CaR) and its disorders.
Brown EM
Hormones (athens, Greece), 0
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