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Egbuna OI, Brown EM. Hypercalcaemic and hypocalcaemic conditions due to calcium-sensing receptor mutations. Best Pract Res Clin Rheumatol 22: 129-148, 2008.","DOI":"10.1016\/j.berh.2007.11.006"},{"key":"2","doi-asserted-by":"publisher","unstructured":"2. Brown EM, Gamba G, Riccardi D, et al. Cloning and characterization of an extracellular Ca<sup>++<\/sup>-sensing receptor from bovine parathyroid. Nature 366: 575-580, 1993.","DOI":"10.1038\/366575a0"},{"key":"3","unstructured":"3. Mutations and polymorphisms in the CaSR (http:\/\/www.casrdb.mcgill.ca\/?Topic=CasrMutation)"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Pollak MR, Brown EM, Estep HL, et al. Autosomal dominant hypocalcemia caused by a Ca<sup>2+<\/sup>-sensing receptor gene mutation. Nat Genet 8: 303-307, 1994.","DOI":"10.1038\/ng1194-303"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Pearce SHS, Williamson C, Kifor O, et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335: 1115-1122, 1996.","DOI":"10.1056\/NEJM199610103351505"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6. Watanabe T, Bai M, Lane CR, et al. Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor. J Clin Endocrinol Metab 83: 2497-2502, 1998.","DOI":"10.1210\/jc.83.7.2497"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Baron J, Winer KK, Yanovski JA, et al. Mutations in the Ca<sup>2++<\/sup>-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism. Hum Mol Genet 5: 601-606, 1996.","DOI":"10.1093\/hmg\/5.5.601"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Pearce SHS, Williamson C, Kifor O, et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor gene. 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J Clin Endocrinol Metab 87: 1309-1318, 2002.","DOI":"10.1210\/jc.87.3.1309"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Sato K, Hasegawa Y, Nakae J, et al. Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J Clin Endocrinol Metab 87: 3068-3073, 2002.","DOI":"10.1210\/jcem.87.7.8639"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Tan YM, Cardinal J, Franks AH, et al. Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor. J Clin Endocrinol Metab 88: 605-610, 2003.","DOI":"10.1210\/jc.2002-020081"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Pidasheva S, D'Souza-Li L, Canaff L, Cole DEC, Hendy GN. CASRdb: calcium-sensing receptor locus-specific database for mutations causing familial (benign) hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 24: 107-111, 2004.","DOI":"10.1002\/humu.20067"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Sato K, Nakajima K, Imamura HD, et al. A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy : Case report and review of the literature in Japan. Endocrine J 49: 625-633, 2002.","DOI":"10.1507\/endocrj.49.625"},{"key":"16","doi-asserted-by":"crossref","unstructured":"16. Okazaki R, Chikatsu N, Nakatsu M, et al. A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia. J Clin Endocrinol Metab 84: 363-366, 1999.","DOI":"10.1210\/jc.84.1.363"},{"key":"17","doi-asserted-by":"crossref","unstructured":"17. Yamamoto M, Akatsu T, Nagase T, Ogata E. Comparison of hypocalcemic 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 Endocrinol Metab 85: 4583-4591, 2000.","DOI":"10.1210\/jcem.85.12.7035"},{"key":"18","doi-asserted-by":"crossref","unstructured":"18. Canaff L, Hendy GN. Calcium-sensing receptor gene transcription is up-regulated by the proinflammatory cytokine, interleukin-1beta. Role of the NF-kappaB pathway and kappaB elements. J Biol Chem 280: 14177-14188, 2005.","DOI":"10.1074\/jbc.M408587200"},{"key":"19","doi-asserted-by":"crossref","unstructured":"19. Canaff L, Zhou X, Hendy GN. The proinflammatory cytokine, interleukin-6, up-regulates calcium-sensing receptor gene transcription via Stat1\/3 and Sp1\/3. J Biol Chem 283: 13586-13600, 2008.","DOI":"10.1074\/jbc.M708087200"},{"key":"20","doi-asserted-by":"crossref","unstructured":"20. Zaloga GP, Chernow B. The multifactorial basis for hypocalcemia during sepsis. Studies of the parathyroid hormone-vitamin D axis. Ann Intern Med 107: 36-41, 1987.","DOI":"10.7326\/0003-4819-107-1-36"},{"key":"21","doi-asserted-by":"crossref","unstructured":"21. Nakamura Y, Matsumoto T, Tamakoshi A, et al. Prevalence of idiopathic hypoparathyroidism and pseudohypoparathyroidism in Japan. J Epidemiol 10: 29-33, 2000.","DOI":"10.2188\/jea.10.29"},{"key":"22","doi-asserted-by":"crossref","unstructured":"22. Fukumoto S, Namba N, Ozono K, et al. Causes and differential diagnosis of hypocalcemia&mdash;recommendation proposed by expert panel supported by ministry of health, labour and welfare, Japan. 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