Signal peptide mutations in RANK prevent downstream activation of NF-κB

Familial expansile osteolysis and related disorders are caused by heterozygous tandem duplication mutations in the signal peptide region of the gene encoding receptor activator of NF-κB (RANK), a receptor critical for osteoclast formation and function. Previous studies have shown that overexpression...

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Bibliographische Detailangaben
Hauptverfasser: Crockett, Julie C, Mellis, David J, Shennan, Kathleen IJ, Duthie, Angela, Greenhorn, John, Wilkinson, Debbie I, Ralston, Stuart H, Helfrich, Miep H, Rogers, Michael J
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wiley Subscription Services, Inc., A Wiley Company 2011
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Original Articles
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3378713/
https://ncbi.nlm.nih.gov/pubmed/21472776
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.399
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