Conditional mouse models support the role of SLC39A14 (ZIP14) in Hyperostosis Cranialis Interna and in bone homeostasis

Hyperostosis Cranialis Interna (HCI) is a rare bone disorder characterized by progressive intracranial bone overgrowth at the skull. Here we identified by whole-exome sequencing a dominant mutation (L441R) in SLC39A14 (ZIP14). We show that L441R ZIP14 is no longer trafficked towards the plasma membr...

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Détails bibliographiques
Publié dans:PLoS Genet
Auteurs principaux: Hendrickx, Gretl, Borra, Vere M., Steenackers, Ellen, Yorgan, Timur A., Hermans, Christophe, Boudin, Eveline, Waterval, Jérôme J., Jansen, Ineke D. C., Aydemir, Tolunay Beker, Kamerling, Niels, Behets, Geert J., Plumeyer, Christine, D’Haese, Patrick C., Busse, Björn, Everts, Vincent, Lammens, Martin, Mortier, Geert, Cousins, Robert J., Schinke, Thorsten, Stokroos, Robert J., Manni, Johannes J., Van Hul, Wim
Format: Artigo
Langue:Inglês
Publié: Public Library of Science 2018
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5903675/
https://ncbi.nlm.nih.gov/pubmed/29621230
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1007321
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