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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Pubblicato in:PLoS Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Public Library of Science 2018
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Research Article
Accesso online: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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