Diseases associated with the extracellular calcium-sensing receptor

Cell Calcium

Volumn 35, Issue 3, 2004, Pages 275-282

  Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

G protein coupled receptor; Hypercalcaemia; Hypocalcaemia

Indexed keywords

AMINO ACID; CALCIUM SENSING RECEPTOR; CELL SURFACE PROTEIN; G PROTEIN COUPLED RECEPTOR; PARATHYROID HORMONE;

AMINO ACID SEQUENCE; AUTOIMMUNE DISEASE; AUTOSOMAL DOMINANT DISORDER; BARTTER SYNDROME; CALCIUM ABSORPTION; CHROMOSOME 19P; CHROMOSOME 19Q; CHROMOSOME 3Q; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; EXTRACELLULAR CALCIUM; FAMILIAL DISEASE; GENE FUNCTION; GENE LOCATION; GENE LOSS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; HUMAN; HYPERCALCEMIA; HYPERCALCIURIA; HYPOPARATHYROIDISM; KIDNEY; KIDNEY TUBULE ABSORPTION; NEWBORN DISEASE; PARATHYROID GLAND; PARATHYROID HORMONE RELEASE; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FAMILY; REGULATORY MECHANISM; REVIEW;

EID: 1442277000     PISSN: 01434160     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ceca.2003.10.010     Document Type: Article

References (54)

1. E.M. Brown, R.J. MacLeod, Extracellular calcium-sensing and extracellular calcium signalling, Physiol. Rev. 81 (2001) 239-297.
2. E.M. Brown, Mutations in the calcium-sensing receptor and their clinical implications, Hormone Res. 48 (1997) 199-208.
3. 2+ sensing receptor in divalent mineral ion homeostasis, J. Exp. Biol. 200 (1997) 295-302.
4. 2+-sensing receptor from bovine parathyroid, Nature 366 (1993) 575-580.
5. J. Tfelt-Hansen, R.J. MacLeod, N. Chattopadhyay, S. Yano, S. Quinn, X. Ren, E.F. Terwilliger, P. Schwarz, E.M. Brown, 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 (2003) E329-E337.
6. Y.H. Chou, E.M. Brown, T. Levi, G. Crowe, A.B. Atkinson, H.J. Arnqvist, G. Toss, G.E. Fuleihan, J.G. Seidman, C.E. Seidman, The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families, Nat. Genet. 1 (1992) 295-300.
7. 2+ sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, Cell 75 (1993) 1297-1303.
8. 2+)-sensing receptor gene mutation, Nat. Genet. 8 (1994) 303-307.
9. S.H. Pearce, C. Williamson, O. Kifor, M. Bai, M.G. Coulthard, M. Davies, N. Lewis-Barned, D. McCredie, H. Powell, P. Kendall-Taylor, E.M. Brown, R.V. Thakker, A familial syndrome of hypocalcaemia with hypercalciuria due to mutations in the calcium-sensing receptor, New Eng. J. Med. 335 (1996) 1115-1122.
10. S. Watanabe, S. Fukumoto, H. Chang, Y. Takenchi, Y. Hasegaiva, R. Okazaki, N. Chikatsu, T. Fujita, Association between activating mutations of calcium-sensing receptor and Bartter's syndrome, Lancet 360 (2002) 692-694.
11. R. Vargas-Poussou, C. Huang, P. Huliu, P. Houiller, X. Jeunemaitre, M. Paillard, G. Planelles, M. Dechaux, R.T. Miller, C. Antignac, Functional characterisation of calcium-sensing receptor mutation in severe autosomal dominant hypocalcaemia with a Bartter-like syndrome, J. Am. Soc. Nephrol. 13 (2002) 2259-2266.
12. O. Kifor, F.D. Moore Jr., M. Delaney, J. Garber, G.N. Hendy, R. Batters, P. Gao, T.L. Cantor, I. Kifor, E.M. Brown, J. Wysolmerski, A syndrome of hypocalciuric hypercalcaemia caused by auto-antibodies directed at the calcium-sensing receptor, J. Clin. Endo. Metab. 88 (2003) 60-72.
13. Y. Li, Y-H. Song, N. Rais, E. Connor, D. Schatz, A. Muir, N. Maclaren, Auto antibodies to the extracellular domain of the calcium-sensing receptor in patients with acquired hypoparathyroidism, J. Clin. Invest. 97 (1996) 910-914.
14. N. Janicic, E. Soliman, Z. Pausova, M.F. Seldin, M. Riviere, J. Szpirer, C. Szpirer, G.N. Hendy, 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 (1995) 798-801.
15. H. Heath III, C.E. Jackson, B. Otterud, M.F. Leppert, Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity, Am. J. Hum. Genet. 53 (1993) 93-200.
16. Ok), to chromosome 19q13, Am. J. Hum. Genet. 64 (1999) 189-195.
17. T.P. Foley Jr., H.C. Harrison, C.D. Arnand, H.E. Harrison, Familial benign hypercalcaemia, J. Pediatr. 81 (1972) 1060-1067.
18. S.J. Marx, M.F. Attie, M.A. Levine, A.M. Spiegel, R.W. Downs Jr., R.D. Lasker, The hypo-calciuric or benign variant of familial hypercalcaemia. Clinical and biochemical features of fifteen families, Medicine (Baltimore) 60 (1981) 397-412.
19. C.R. Paterson, A. Gunn, Familial benign hypercalcaemia, Lancet 2 (1981) 61-63.
20. W.M. Law, H. Heath, Familial benign hypercalcaemia (hypocalciuric hypercalcaemia). Clinical and pathogenetic study of 21 families, Ann. Int. Med. 102 (1885) 511-519.
21. H. Heath III, Familial benign (hypocalciuric) hypercalcaemia, a troublesome mimic of mild primary hyperparathyroidism, Endocrinol. Metab. Clin. N. Am. 18 (1989) 723-740.
22. J.H. Kristiansen, P. Rodbro, C. Christiansen, J. Brocher Mortensen, J. Carl, Familial hypocalciuric hypercalcaemia II: intestinal calcium absorption and vitamin D metabolism, Clin. Endocrinol. 23 (1985) 511-515.
23. M. Davies, P.S. Klimiuk, P.H. Adams, G.A. Lumb, D.M. Large, D.C. Anderson, Familial hypocalciuric hypercalcaemia and acute pancreatitis, Br. Med. J. 282 (1981) 1023-1025.
24. L. Canaff, J.L. Petif, M. Gason-Barre, G.N. Hendy, The calcium-sensing receptor is expressed in rat hepatocytes and is coupled to intracellular calcium mobilisation, Bone 235 (1998) T200.
25. W. Chang, C. Tu, T.H. Chen, L. Komuves, Y. Oda, S. Pratt, S. Miller, D. Shoback, Expression and signal transduction of calcium-sensing receptors in cartilage and bone, Endocrinology 140 (1999) 5883-5893.
26. 2+ (polyvalent cation)-sensing receptor in a rat pancreas, J. Biol. Chem. 274 (1999) 20561-20568.
27. J. Auwerx, M. Demedts, R. Bouillon, Altered parathyroid set point to calcium in familial hypocalciuric hypercalcemia, Acta Endocrinol. 106 (1984) 215-218.
28. S. Khosla, P.R. Ebeling, A.F. Firek, M.M. Burritt, P.C. Kao, H. Heath, 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 (1993) 715-720.
29. J.E. Garrett, I.V. Capuano, L.G. Hammerland, B.C. Hung, E.M. Brown, S.C. Hebert, E.F. Nemeth, F. Fuller, Molecular cloning and functional expression of human parathyroid calcium receptor cDNAs, J. Biol. Chem. 270 (1995) 12919-12925.
30. S.H. Pearce, D. Trump, C. Wooding, G.M. Besser, S.L. Chew, D.B. Grant, D.A. Heath, I.A. Hughes, C.R. Paterson, M.P. Whyte, R.V. Thakker, Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidsm, J. Clin. Invest. 96 (1995) 2683-2692.
31. 2+-sensing receptor gene that cause familial hypocalciuric hypercalcaemia, Am. J. Hum. Genet. 56 (1995) 1075-1079.
32. 2+-sensing receptor gene in familial hypocalciuric hypercalcaemia and neonatal severe hyper-parathyroidism, Am. J. Hum. Genet. 56 (1995) 880-886.
33. 2+-sensing receptor gene, J. Clin. Endocrinol. Metab. 80 (1995) 2594-2598.
34. H. Heath III, S. Odelberg, C.E. Jackson, B.T. Teh, N. Hayward, C. Larsson, N.R.M. Buist, K.J. Krapcho, B.C. Hung, I.V. Capuano, J.E. Garrett, M.F. Leppert, 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 (1996) 1312-1317.
35. M.R. Pollak, Y.H.W. Chou, S.J. Marx, B. Steinmann, D.E. Cole, M.L. Brandi, S.E. Papapoulos, F.H. Menko, G.N. Hendy, E.M. Brown, C.E. Seidman, J.G. Seidman, Familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype, J. Clin. Invest. 93 (1994) 1108-1112.
36. G.N. Hendy, L. D'Souza-Li, B. Yang, L. Canaff, D.E.C. Cole, Mutations of the calcium-sensing receptor (CaSR) in familial hypocalciuric hypercalcaemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcaemia, Human Mutation 16 (2000) 281-296.
37. C.T. McMurtry, F.W. Schranck, D.A. Walkenhorst, W.A. Murphy, D.B. Kocher, S.L. Teitelbaum, R.C. Rupich, M.P. Whyte, Significant developmental elevation in serum parathyroid hormone levels in a large kindred with familial benign (hypocalciuric) hypercalcemia, Am. J. Med. 93 (1992) 247-258.
38. D.A. Hillman, C.R. Scriver, S. Pedvis, I. Shragovitch, Neonatal familial primary hyperparathyroidism, N. Engl. J. Med. 270 (1964) 483-490.
39. S.J. Marx, M.F. Attie, A.M. Spiegel, M.A. Levine, R.D. Lasker, M. Fox, An association between neonatal severe primary hyperparathyroidism and familial hypocalciuric hypercalcemia in three kindreds, N. Engl. J. Med. 1306 (1982) 257-264.
40. B. Steinmann, H.E. Gnehm, V.H. Rao, H.P. Kind, A. Prader, Neonatal severe primary hyperparathyroidism and alkaptonuria in a boy born to related parents with familial hypocalciuric hypercalcaemia, Helv. Paediatr. Acta 39 (1984) 171-186.
41. L.G. Raisz, The hunting of the snark: the elusive calcium receptor(s), J. Clin. Invest. 111 (2003) 945-947.
42. 2+-sensing receptor gene: normal maternal calcium homeostasis as a cause of secondary hyperparathyroidism in familial benign hypocalciuric hypercalcaemia, J. Clin. Invest. 99 (1999) 88-96.
43. G.H. Kos, A.C. Karaplis, J.B. Peng, M.A. Hediger, D. Goltzman, K.S. Mohammad, T.A. Guise, M.R. Pollak, The calcium-sensing receptor is required for normal calcium homeostasis independent of parathyroid hormone, J. Clin. Invest. 111 (2003) 1021-1028.
44. Q. Tu, M. Pi, G. Karsenty, L. Simpson, S. Liu, L.D. Quarles, Rescue of skeletal phenotype in CaSR-deficient mice by transfer onto the Gcm2 null background, J. Clin. Invest. 111 (2003) 1029-1037.
45. C. Ho, D.A. Conner, M.R. Pollak, D.J. Ladd, O. Kifor, B. Warren, E.M. Brown, J.G. Seidman, C.E. Seidman, A mouse model of human familial hypocalciuric hypercalcaemia and neonatal severe hyperparathyroidism, Nat. Genet. 11 (1995) 294-389.
46. T. Gunther, Z.F. Chen, J. Kim, M. Priemel, J.M. Rueger, M. Amling, J.M. Moseley, T.J. Martin, D.J. Anderson, G. Karsenty, Genetic ablation of parathyroid glands reveals another source of parathyroid hormone, Nature 406 (2000) 199-203.
47. O. Kifor, F.D. Moore Jr., M. Delaney, J. Garber, G.N. Hendy, R. Bulters, P. Gao, T.L. Couter, I. Kifor, E.M. Brown, J. Wysolmerski, A syndrome of hypocalciuric hypercalcaemia caused by auto-antibodies directed at the calcium-sensing receptor, J. Clin. Endo. Metab. 88 (2003) 60-72.
48. D.N. Finegold, M.M. Armitage, M. Galiani, T.C. Matise, M.R. Pandian, Y.M. Perry, R. Deka, R.E. Ferrell, Preliminary localisation of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13, Pediatr. Res. 36 (1994) 414-417.
49. Y.M. Perry, D.N. Finegold, M.M. Armitage, R.E. Ferrell, A missense mutation in the Ca-sensing receptor causes familial autosomal dominant hypoparathyroidism, Am. J. Hum. Genet. 55 (1994) A17.
50. 2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism, Hum. Mol. Genet. 5 (1996) 601-606.
51. M. Yamamoto, T. Akatsu, T. Nagase, E. Ogata, 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 (2000) 4583-4591.
52. R.V. Thakker, Molecular pathology of renal chloride channels in Dent's disease and Bartter's syndrome, Exp. Nephrol. 8 (2000) 351-360.
53. S.C. Hebert, Bartter syndrome, Curr. Opin. Nephrol. Hypertens. 12 (2003) 527-532.
54. Y. Li, Y-H. Song, N. Rais, E. Connor, D. Schatz, A. Muir, N. Maclaren, Auto-antibodies to the extracellular domain of the calcium-sensing receptor in patients with acquired hypoparathyroidism, J. Clin. Invest. 97 (1996) 910-914.