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Article

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

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Aug 2011

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

Abstract excerpt

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 of these mutant proteins causes constitutive activation of NF-κB signaling in vitro, and it has been assumed that...

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Identifiers

PMID: 21472776
DOI: 10.1002/jbmr.399
PMCID: PMC3378713

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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