Diseases associated with the extracellular calcium-sensing receptor

Brown, 2001, Extracellular calcium-sensing and extracellular calcium signalling, Physiol. Rev., 81, 239, 10.1152/physrev.2001.81.1.239

Brown, 1997, Mutations in the calcium-sensing receptor and their clinical implications, Hormone Res., 48, 199, 10.1159/000185516

Hebert, 1997, Role of the Ca2+ sensing receptor in divalent mineral ion homeostasis, J. Exp. Biol., 200, 295, 10.1242/jeb.200.2.295

Brown, 1993, Cloning and characterization of an extracellular Ca2+-sensing receptor from bovine parathyroid, Nature, 366, 575, 10.1038/366575a0

Tfelt-Hansen, 2003, Calcium-sensing receptor stimulates PTHrP release by PKC-, P38MAPK-, JNK- and ERK1/2-dependent pathways in H-500 cells, Am. J. Physiol. Endocrinol. Metab., 285, E329, 10.1152/ajpendo.00489.2002

Chou, 1992, The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families, Nat. Genet., 1, 295, 10.1038/ng0792-295

Pollak, 1993, Mutations in the human Ca2+ sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Cell, 75, 1297, 10.1016/0092-8674(93)90617-Y

Pollak, 1994, Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation, Nat. Genet., 8, 303, 10.1038/ng1194-303

Pearce, 1996, A familial syndrome of hypocalcaemia with hypercalciuria due to mutations in the calcium-sensing receptor, New Eng. J. Med., 335, 1115, 10.1056/NEJM199610103351505

Watanabe, 2002, Association between activating mutations of calcium-sensing receptor and Bartter’s syndrome, Lancet, 360, 692, 10.1016/S0140-6736(02)09842-2

Vargas-Poussou, 2002, Functional characterisation of calcium-sensing receptor mutation in severe autosomal dominant hypocalcaemia with a Bartter-like syndrome, J. Am. Soc. Nephrol., 13, 2259, 10.1097/01.ASN.0000025781.16723.68

Kifor, 2003, A syndrome of hypocalciuric hypercalcaemia caused by auto-antibodies directed at the calcium-sensing receptor, J. Clin. Endo. Metab., 88, 60, 10.1210/jc.2002-020249

Li, 1996, Auto antibodies to the extracellular domain of the calcium-sensing receptor in patients with acquired hypoparathyroidism, J. Clin. Invest., 97, 910, 10.1172/JCI118513

Janicic, 1995, Mapping of the calcium-sensing receptor gene (CaSR) to human chromosome 3q13.3-21 by fluorescent in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16, Mammalian Genome, 6, 798, 10.1007/BF00539007

Heath, 1993, Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity, Am. J. Hum. Genet., 53, 93

Lloyd, 1999, Localization of familial benign hypercalcaemia, Oklahoma variant (FBHOk), to chromosome 19q13, Am. J. Hum. Genet., 64, 189, 10.1086/302202

Foley, 1972, Familial benign hypercalcaemia, J. Pediatr., 81, 1060, 10.1016/S0022-3476(72)80232-4

Marx, 1981, The hypo-calciuric or benign variant of familial hypercalcaemia. Clinical and biochemical features of fifteen families, Medicine (Baltimore), 60, 397, 10.1097/00005792-198111000-00002

Paterson, 1981, Familial benign hypercalcaemia, Lancet, 2, 61, 10.1016/S0140-6736(81)90410-4

Law, 1885, Familial benign hypercalcaemia (hypocalciuric hypercalcaemia). Clinical and pathogenetic study of 21 families, Ann. Int. Med., 102, 511, 10.7326/0003-4819-102-4-511

Heath, 1989, Familial benign (hypocalciuric) hypercalcaemia, a troublesome mimic of mild primary hyperparathyroidism, Endocrinol. Metab. Clin. N. Am., 18, 723, 10.1016/S0889-8529(18)30362-1

Kristiansen, 1985, Familial hypocalciuric hypercalcaemia II: intestinal calcium absorption and vitamin D metabolism, Clin. Endocrinol., 23, 511, 10.1111/j.1365-2265.1985.tb01110.x

Davies, 1981, Familial hypocalciuric hypercalcaemia and acute pancreatitis, Br. Med. J., 282, 1023, 10.1136/bmj.282.6269.1023

Canaff, 1998, The calcium-sensing receptor is expressed in rat hepatocytes and is coupled to intracellular calcium mobilisation, Bone, 235, T200

Chang, 1999, Expression and signal transduction of calcium-sensing receptors in cartilage and bone, Endocrinology, 140, 5883, 10.1210/en.140.12.5883

Bruce, 1999, Molecular and functional identification of a Ca2+ (polyvalent cation)-sensing receptor in a rat pancreas, J. Biol. Chem., 274, 20561, 10.1074/jbc.274.29.20561

Auwerx, 1984, Altered parathyroid set point to calcium in familial hypocalciuric hypercalcemia, Acta Endocrinol., 106, 215, 10.1530/acta.0.1060215

Khosla, 1993, Calcium infusion suggests a “set point” abnormality of parathyroid gland function in familial benign hyper-calcemia and more complex disturbances in primary hyperparathyroidism, J. Clin. Endocrinol. Metab., 76, 715, 10.1210/jc.76.3.715

Garrett, 1995, Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs, J. Biol. Chem., 270, 12919, 10.1074/jbc.270.21.12919

Pearce, 1995, Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidsm, J. Clin. Invest., 96, 2683, 10.1172/JCI118335

Chou, 1995, Mutations in the human Ca2+-sensing receptor gene that cause familial hypocalciuric hypercalcaemia, Am. J. Hum. Genet., 56, 1075

Janicic, 1995, Insertion of an Alu sequence in the Ca2+-sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyper-parathyroidism, Am. J. Hum. Genet., 56, 880

Aida, 1995, Familial hypocalciuric hypercalcemia associated with mutation in the human Ca2+-sensing receptor gene, J. Clin. Endocrinol. Metab., 80, 2594, 10.1210/jc.80.9.2594

Heath, 1996, Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcaemia suggest receptor functional domains, J. Clin. Endocrinol. Metab., 81, 1312, 10.1210/jc.81.4.1312

Pollak, 1994, Familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype, J. Clin. Invest., 93, 1108, 10.1172/JCI117062

Hendy, 2000, Mutations of the calcium-sensing receptor (CaSR) in familial hypocalciuric hypercalcaemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcaemia, Human Mutation, 16, 281, 10.1002/1098-1004(200010)16:4<281::AID-HUMU1>3.0.CO;2-A

McMurtry, 1992, Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia, Am. J. Med., 93, 247, 10.1016/0002-9343(92)90229-5

Hillman, 1964, Neonatal familial primary hyperparathyroidism, N. Engl. J. Med., 270, 483, 10.1056/NEJM196403052701001

Marx, 1982, An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds, N. Engl. J. Med., 1306, 257, 10.1056/NEJM198202043060502

Steinmann, 1984, Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcaemia, Helv. Paediatr. Acta, 39, 171

Raisz, 2003, The hunting of the snark: the elusive calcium receptor(s), J. Clin. Invest., 111, 945, 10.1172/JCI18235

Bai, 1999, In vivo and in vitro characterisation of neonatal hyperparathyroidism resulting from a de novo, heterozygous mutation in the Ca2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcaemia, J. Clin. Invest., 99, 88, 10.1172/JCI119137

Kos, 2003, The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone, J. Clin. Invest., 111, 1021, 10.1172/JCI17416

Tu, 2003, Rescue of skeletal phenotype in CaSR-deficient mice by transfer onto the Gcm2 null background, J. Clin. Invest., 111, 1029, 10.1172/JCI200317054

Ho, 1995, A mouse model of human familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism, Nat. Genet., 11, 294, 10.1038/ng1295-389

Gunther, 2000, Genetic ablation of parathyroid glands reveals another source of parathyroid hormone, Nature, 406, 199, 10.1038/35018111

Kifor, 2003, A syndrome of hypocalciuric hypercalcaemia caused by auto-antibodies directed at the calcium-sensing receptor, J. Clin. Endo. Metab., 88, 60, 10.1210/jc.2002-020249

Finegold, 1994, Preliminary localisation of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13, Pediatr. Res., 36, 414, 10.1203/00006450-199409000-00024

Perry, 1994, A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism, Am. J. Hum. Genet., 55, A17

Baron, 1996, Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism, Hum. Mol. Genet., 5, 601, 10.1093/hmg/5.5.601

Yamamoto, 2000, Comparison of hypocalcaemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?, J. Clin. Endo. Metab., 85, 4583, 10.1210/jc.85.12.4583

Thakker, 2000, Molecular pathology of renal chloride channels in Dent’s disease and Bartter’s syndrome, Exp. Nephrol., 8, 351, 10.1159/000020689

Hebert, 2003, Bartter syndrome, Curr. Opin. Nephrol. Hypertens., 12, 527, 10.1097/00041552-200309000-00008

Li, 1996, Auto-antibodies to the extracellular domain of the calcium-sensing receptor in patients with acquired hypoparathyroidism, J. Clin. Invest., 97, 910, 10.1172/JCI118513