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DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.
Lorenz-Depiereux B, Bastepe M, Benet-Pagès A, Amyere M, Wagenstaller J, Müller-Barth U, Badenhoop K, Kaiser SM, Rittmaster RS, Shlossberg AH, Olivares JL, Loris C, Ramos FJ, Glorieux F, Vikkula M, Jüppner H, Strom TM. Lorenz-Depiereux B, et al. Among authors: strom tm. Nat Genet. 2006 Nov;38(11):1248-50. doi: 10.1038/ng1868. Epub 2006 Oct 8. Nat Genet. 2006. PMID: 17033625 Free PMC article.
Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3.
Lorenz-Depiereux B, Benet-Pages A, Eckstein G, Tenenbaum-Rakover Y, Wagenstaller J, Tiosano D, Gershoni-Baruch R, Albers N, Lichtner P, Schnabel D, Hochberg Z, Strom TM. Lorenz-Depiereux B, et al. Among authors: strom tm. Am J Hum Genet. 2006 Feb;78(2):193-201. doi: 10.1086/499410. Epub 2005 Dec 9. Am J Hum Genet. 2006. PMID: 16358215 Free PMC article.
PHEX, FGF23, DMP1 and beyond.
Strom TM, Jüppner H. Strom TM, et al. Curr Opin Nephrol Hypertens. 2008 Jul;17(4):357-62. doi: 10.1097/MNH.0b013e3282fd6e5b. Curr Opin Nephrol Hypertens. 2008. PMID: 18660670 Review.
FGF23 is processed by proprotein convertases but not by PHEX.
Benet-Pagès A, Lorenz-Depiereux B, Zischka H, White KE, Econs MJ, Strom TM. Benet-Pagès A, et al. Among authors: strom tm. Bone. 2004 Aug;35(2):455-62. doi: 10.1016/j.bone.2004.04.002. Bone. 2004. PMID: 15268897
366 results