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Sustained Notch2 signaling in osteoblasts, but not in osteoclasts, is linked to osteopenia in a mouse model of Hajdu-Cheney syndrome

Individuals with Hajdu-Cheney syndrome (HCS) present with osteoporosis, and HCS is associated with NOTCH2 mutations causing deletions of the proline-, glutamic acid-, serine-, and threonine-rich (PEST) domain that are predicted to enhance NOTCH2 stability and cause gain-of-function. Previously, we d...

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Vydáno v:J Biol Chem
Hlavní autoři: Zanotti, Stefano, Yu, Jungeun, Sanjay, Archana, Schilling, Lauren, Schoenherr, Chris, Economides, Aris N., Canalis, Ernesto
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Biochemistry and Molecular Biology 2017
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5519372/
https://ncbi.nlm.nih.gov/pubmed/28592489
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M117.786129
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