Article
High Bone Turnover in Mice Carrying a Pathogenic Notch2 Mutation Causing Hajdu-Cheney Syndrome.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Jan 2018
Vollersen Nele, Hermans-Borgmeyer Irm, Cornils Kerstin, Fehse Boris, Rolvien Tim, Triviai Ioanna, Jeschke Anke, Oheim Ralf, Amling Michael, Schinke Thorsten, Yorgan Timur Alexander
Abstract excerpt
Hajdu-Cheney syndrome (HCS) is a rare autosomal-dominant disorder primarily characterized by acro-osteolysis and early-onset osteoporosis. Genetically, HCS is caused by nonsense or deletion mutations within exon 34 of the NOTCH2 gene, resulting in premature translational termination and production of C-terminally truncated NOTCH2 proteins that are predicted to activate NOTCH2-dependent signaling. To understand...
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