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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: helfrich mh. 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.
Bone remodelling at a glance.
Crockett JC, Rogers MJ, Coxon FP, Hocking LJ, Helfrich MH. Crockett JC, et al. Among authors: helfrich mh. J Cell Sci. 2011 Apr 1;124(Pt 7):991-8. doi: 10.1242/jcs.063032. J Cell Sci. 2011. PMID: 21402872 No abstract available.
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: helfrich mh. 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.
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Guerrini MM, et al. Among authors: helfrich mh. Am J Hum Genet. 2008 Jul;83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015. Am J Hum Genet. 2008. PMID: 18606301 Free PMC article.
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL.
Sobacchi C, Frattini A, Guerrini MM, Abinun M, Pangrazio A, Susani L, Bredius R, Mancini G, Cant A, Bishop N, Grabowski P, Del Fattore A, Messina C, Errigo G, Coxon FP, Scott DI, Teti A, Rogers MJ, Vezzoni P, Villa A, Helfrich MH. Sobacchi C, et al. Among authors: helfrich mh. Nat Genet. 2007 Aug;39(8):960-2. doi: 10.1038/ng2076. Epub 2007 Jul 15. Nat Genet. 2007. PMID: 17632511
Osteoclast diseases.
Helfrich MH. Helfrich MH. Microsc Res Tech. 2003 Aug 15;61(6):514-32. doi: 10.1002/jemt.10375. Microsc Res Tech. 2003. PMID: 12879419 Review.
Osteoclast diseases and dental abnormalities.
Helfrich MH. Helfrich MH. Arch Oral Biol. 2005 Feb;50(2):115-22. doi: 10.1016/j.archoralbio.2004.11.016. Epub 2005 Jan 18. Arch Oral Biol. 2005. PMID: 15721137 Review.
76 results