Williams-Beuren syndrome hypercalcemia: Is TRPC3 a novel mediator in calcium homeostasis
Letavernier E, Rodenas A, Guerrot D, Haymann JP. Williams-Beuren syndrome hypercalcemia: is TRPC3 a novel mediator in calcium homeostasis? Pediatrics 2012;129:e1626-30
Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia
Dauber A, Nguyen TT, Sochett E, Cole DE, Horst R, et al. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrino l Metab 2012;97:E268-74
Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: Effects of ketoconazole therapy
Tebben PJ, Milliner DS, Horst RL, Harris PC, Singh RJ, et al. Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab 2012;97:E423-7
Distinct function of 2 chromatin remodeling complexes that share a common subunit williams syndrome transcription factor (WSTF)
Yoshimura K, Kitagawa H, Fujiki R, Tanabe M, Takezawa S, et al. Distinct function of 2 chromatin remodeling complexes that share a common subunit, Williams syndrome transcription factor (WSTF). Proc Natl Acad Sci USA 2009;106:9280-5
Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevat ed 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D
St-Arnaud R, Arabian A, Travers R, Barletta F, Raval-Pandya M, et al. Deficient mineralization of intramembranous bone in vitamin D-24-hydroxylase-ablated mice is due to elevat ed 1,25-dihydroxyvitamin D and not to the absence of 24,25-dihydroxyvitamin D. Endocrinology 2000;141:2658-66