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Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.
Yang Z, Chen Y, Lillo C, Chien J, Yu Z, Michaelides M, Klein M, Howes KA, Li Y, Kaminoh Y, Chen H, Zhao C, Chen Y, Al-Sheikh YT, Karan G, Corbeil D, Escher P, Kamaya S, Li C, Johnson S, Frederick JM, Zhao Y, Wang C, Cameron DJ, Huttner WB, Schorderet DF, Munier FL, Moore AT, Birch DG, Baehr W, Hunt DM, Williams DS, Zhang K. Yang Z, et al. Among authors: escher p. J Clin Invest. 2008 Aug;118(8):2908-16. doi: 10.1172/JCI35891. J Clin Invest. 2008. PMID: 18654668 Free PMC article.
The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.
Michaelides M, Gaillard MC, Escher P, Tiab L, Bedell M, Borruat FX, Barthelmes D, Carmona R, Zhang K, White E, McClements M, Robson AG, Holder GE, Bradshaw K, Hunt DM, Webster AR, Moore AT, Schorderet DF, Munier FL. Michaelides M, et al. Among authors: escher p. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4771-80. doi: 10.1167/iovs.09-4561. Epub 2010 Apr 14. Invest Ophthalmol Vis Sci. 2010. PMID: 20393116 Free PMC article.
Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5.
Cottet S, Jüttner R, Voirol N, Chambon P, Rathjen FG, Schorderet DF, Escher P. Cottet S, et al. Among authors: escher p. Mol Vis. 2013 Nov 16;19:2312-20. eCollection 2013. Mol Vis. 2013. PMID: 24265546 Free PMC article.
73 results