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Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.
Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF. Parry DA, et al. Among authors: pierce ea. Am J Hum Genet. 2009 May;84(5):683-91. doi: 10.1016/j.ajhg.2009.04.005. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409519 Free PMC article.
Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene.
Gao J, Cheon K, Nusinowitz S, Liu Q, Bei D, Atkins K, Azimi A, Daiger SP, Farber DB, Heckenlively JR, Pierce EA, Sullivan LS, Zuo J. Gao J, et al. Among authors: pierce ea. Proc Natl Acad Sci U S A. 2002 Apr 16;99(8):5698-703. doi: 10.1073/pnas.042122399. Proc Natl Acad Sci U S A. 2002. PMID: 11960024 Free PMC article.
RP1 is required for the correct stacking of outer segment discs.
Liu Q, Lyubarsky A, Skalet JH, Pugh EN Jr, Pierce EA. Liu Q, et al. Among authors: pierce ea. Invest Ophthalmol Vis Sci. 2003 Oct;44(10):4171-83. doi: 10.1167/iovs.03-0410. Invest Ophthalmol Vis Sci. 2003. PMID: 14507858 Free PMC article.
The proteome of the mouse photoreceptor sensory cilium complex.
Liu Q, Tan G, Levenkova N, Li T, Pugh EN Jr, Rux JJ, Speicher DW, Pierce EA. Liu Q, et al. Among authors: pierce ea. Mol Cell Proteomics. 2007 Aug;6(8):1299-317. doi: 10.1074/mcp.M700054-MCP200. Epub 2007 May 9. Mol Cell Proteomics. 2007. PMID: 17494944 Free PMC article.
Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.
Poulter JA, Ali M, Gilmour DF, Rice A, Kondo H, Hayashi K, Mackey DA, Kearns LS, Ruddle JB, Craig JE, Pierce EA, Downey LM, Mohamed MD, Markham AF, Inglehearn CF, Toomes C. Poulter JA, et al. Among authors: pierce ea. Am J Hum Genet. 2010 Feb 12;86(2):248-53. doi: 10.1016/j.ajhg.2010.01.012. Am J Hum Genet. 2010. PMID: 20159112 Free PMC article.
155 results