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Lorenz-Depiereux, B. ; Bastepe, M.* ; Benet-Pagès, A. ; Amyere, M.* ; Wagenstaller, J. ; Müller-Barth, U.* ; Badenhoop, K.* ; Kaiser, S.M.* ; Rittmaster, R.S.* ; Shlossberg, A.H.* ; Olivares, J.L.* ; Loris, C.* ; Ramos, F.J.* ; Glorieux, F.* ; Vikkula, M.* ; Jüppner, H.* ; Strom, T.M.

DMP1 mutations in autosomal recessive hypophosphatemia implicate a bone matrix protein in the regulation of phosphate homeostasis.

Nat. Genet. 38, 1248-1250 (2006)
DOI
Open Access Green as soon as Postprint is submitted to ZB.
Hypophosphatemia is a genetically heterogeneous disease. Here, we mapped an autosomal recessive form (designated ARHP) to chromosome 4q21 and identified homozygous mutations in DMP1 (dentin matrix protein 1), which encodes a non-collagenous bone matrix protein expressed in osteoblasts and osteocytes. Intact plasma levels of the phosphaturic protein FGF23 were clearly elevated in two of four affected individuals, providing a possible explanation for the phosphaturia and inappropriately normal 1,25(OH)2D levels and suggesting that DMP1 may regulate FGF23 expression. © 2006 Nature Publishing Group.
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Publication type Article: Journal article
Document type Scientific Article
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 38, Issue: -, Pages: 1248-1250 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)