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

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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Bibliographic Details
Main Authors: Gretl Hendrickx, Vere M Borra, Ellen Steenackers, Timur A Yorgan, Christophe Hermans, Eveline Boudin, Jérôme J Waterval, Ineke D C Jansen, Tolunay Beker Aydemir, Niels Kamerling, Geert J Behets, Christine Plumeyer, Patrick C D'Haese, Björn Busse, Vincent Everts, Martin Lammens, Geert Mortier, Robert J Cousins, Thorsten Schinke, Robert J Stokroos, Johannes J Manni, Wim Van Hul
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2018-04-01
Series:PLoS Genetics
Online Access:http://europepmc.org/articles/PMC5903675?pdf=render

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http://europepmc.org/articles/PMC5903675?pdf=render

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