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Single-nucleotide polymorphisms in the P2X7 receptor gene are associated with post-menopausal bone loss and vertebral fractures.
Jørgensen NR, Husted LB, Skarratt KK, Stokes L, Tofteng CL, Kvist T, Jensen JE, Eiken P, Brixen K, Fuller S, Clifton-Bligh R, Gartland A, Schwarz P, Langdahl BL, Wiley JS. Jørgensen NR, et al. Among authors: skarratt kk. Eur J Hum Genet. 2012 Jun;20(6):675-81. doi: 10.1038/ejhg.2011.253. Epub 2012 Jan 25. Eur J Hum Genet. 2012. PMID: 22274585 Free PMC article.
A Thr357 to Ser polymorphism in homozygous and compound heterozygous subjects causes absent or reduced P2X7 function and impairs ATP-induced mycobacterial killing by macrophages.
Shemon AN, Sluyter R, Fernando SL, Clarke AL, Dao-Ung LP, Skarratt KK, Saunders BM, Tan KS, Gu BJ, Fuller SJ, Britton WJ, Petrou S, Wiley JS. Shemon AN, et al. Among authors: skarratt kk. J Biol Chem. 2006 Jan 27;281(4):2079-86. doi: 10.1074/jbc.M507816200. Epub 2005 Nov 1. J Biol Chem. 2006. PMID: 16263709 Free article.
Genetics of the P2X7 receptor and human disease.
Fuller SJ, Stokes L, Skarratt KK, Gu BJ, Wiley JS. Fuller SJ, et al. Among authors: skarratt kk. Purinergic Signal. 2009 Jun;5(2):257-62. doi: 10.1007/s11302-009-9136-4. Epub 2009 Mar 25. Purinergic Signal. 2009. PMID: 19319666 Free PMC article.
33 results