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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.
Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC. Jamieson RV, et al. Among authors: mcavoy jw. Hum Mutat. 2007 Oct;28(10):968-77. doi: 10.1002/humu.20545. Hum Mutat. 2007. PMID: 17492639
NHS-A isoform of the NHS gene is a novel interactor of ZO-1.
Sharma S, Koh KS, Collin C, Dave A, McMellon A, Sugiyama Y, McAvoy JW, Voss AK, Gécz J, Craig JE. Sharma S, et al. Among authors: mcavoy jw. Exp Cell Res. 2009 Aug 15;315(14):2358-72. doi: 10.1016/j.yexcr.2009.05.008. Epub 2009 May 15. Exp Cell Res. 2009. PMID: 19447104
120 results