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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Detalhes bibliográficos
Publicado no:PLoS Genet
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2018
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Research Article
Acesso em linha: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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