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Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.
Burdon KP, McKay JD, Sale MM, Russell-Eggitt IM, Mackey DA, Wirth MG, Elder JE, Nicoll A, Clarke MP, FitzGerald LM, Stankovich JM, Shaw MA, Sharma S, Gajovic S, Gruss P, Ross S, Thomas P, Voss AK, Thomas T, Gécz J, Craig JE. Burdon KP, et al. Among authors: sharma s. Am J Hum Genet. 2003 Nov;73(5):1120-30. doi: 10.1086/379381. Epub 2003 Oct 16. Am J Hum Genet. 2003. PMID: 14564667 Free PMC article.
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. 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
Rapid inexpensive genome-wide association using pooled whole blood.
Craig JE, Hewitt AW, McMellon AE, Henders AK, Ma L, Wallace L, Sharma S, Burdon KP, Visscher PM, Montgomery GW, MacGregor S. Craig JE, et al. Among authors: sharma s. Genome Res. 2009 Nov;19(11):2075-80. doi: 10.1101/gr.094680.109. Epub 2009 Oct 3. Genome Res. 2009. PMID: 19801603 Free PMC article.
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