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SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts.
Stattin EL, Henning P, Klar J, McDermott E, Stecksen-Blicks C, Sandström PE, Kellgren TG, Rydén P, Hallmans G, Lönnerholm T, Ameur A, Helfrich MH, Coxon FP, Dahl N, Wikström J, Lerner UH. Stattin EL, et al. Among authors: helfrich mh. Sci Rep. 2017 Jun 7;7(1):3012. doi: 10.1038/s41598-017-02533-2. Sci Rep. 2017. PMID: 28592808 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.
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
Involvement of PLEKHM1 in osteoclastic vesicular transport and osteopetrosis in incisors absent rats and humans.
Van Wesenbeeck L, Odgren PR, Coxon FP, Frattini A, Moens P, Perdu B, MacKay CA, Van Hul E, Timmermans JP, Vanhoenacker F, Jacobs R, Peruzzi B, Teti A, Helfrich MH, Rogers MJ, Villa A, Van Hul W. Van Wesenbeeck L, et al. Among authors: helfrich mh. J Clin Invest. 2007 Apr;117(4):919-30. doi: 10.1172/JCI30328. J Clin Invest. 2007. PMID: 17404618 Free PMC article.
Identification of a novel phosphonocarboxylate inhibitor of Rab geranylgeranyl transferase that specifically prevents Rab prenylation in osteoclasts and macrophages.
Coxon FP, Helfrich MH, Larijani B, Muzylak M, Dunford JE, Marshall D, McKinnon AD, Nesbitt SA, Horton MA, Seabra MC, Ebetino FH, Rogers MJ. Coxon FP, et al. Among authors: helfrich mh. J Biol Chem. 2001 Dec 21;276(51):48213-22. doi: 10.1074/jbc.M106473200. Epub 2001 Oct 1. J Biol Chem. 2001. PMID: 11581260 Free 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.
76 results