Functional non-coding polymorphism in an EPHA2 promoter PAX2 binding site modifies expression and alters the MAPK and AKT pathways
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/s41598-017-10117-3.pdf
Reference83 articles.
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2. Hejtmancik, J. F. & Kantorow, M. Molecular genetics of age-related cataract. Experimental Eye Research 79, 3–9 (2004).
3. Okano, Y. et al. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, “Osaka,” in Asians. Am J Hum Genet 68, 1036–1042 (2001).
4. Validandi, V. et al. Temperature-dependent structural and functional properties of a mutant (F71L) alphaA-crystallin: molecular basis for early onset of age-related cataract. FEBS Lett 585, 3884–3889, doi: 10.1016/j.febslet.2011.10.049 (2011).
5. Zuercher, J. et al. Alterations of the 5′ untranslated leader region of SLC16A12 lead to age-related cataract. Invest Ophthalmol Vis Sci (2010).
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