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Signal peptide mutations in RANK prevent downstream activation of NF-κB.
Crockett JC, Mellis DJ, Shennan KI, Duthie A, Greenhorn J, Wilkinson DI, Ralston SH, Helfrich MH, Rogers MJ. Crockett JC, et al. Among authors: duthie a. J Bone Miner Res. 2011 Aug;26(8):1926-38. doi: 10.1002/jbmr.399. J Bone Miner Res. 2011. PMID: 21472776 Free PMC article.
RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.
Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, Strina D, Schulz A, Schlack C, Kornak U, Mellis DJ, Duthie A, Helfrich MH, Durandy A, Moshous D, Vellodi A, Chiesa R, Veys P, Lo Iacono N, Vezzoni P, Fischer A, Villa A, Sobacchi C. Pangrazio A, et al. Among authors: duthie a. J Bone Miner Res. 2012 Feb;27(2):342-51. doi: 10.1002/jbmr.559. J Bone Miner Res. 2012. PMID: 22271396 Free PMC article.
101 results