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Page 1
Photoreceptor Discs: Built Like Ectosomes.
Spencer WJ, Lewis TR, Pearring JN, Arshavsky VY. Spencer WJ, et al. Trends Cell Biol. 2020 Nov;30(11):904-915. doi: 10.1016/j.tcb.2020.08.005. Epub 2020 Sep 6. Trends Cell Biol. 2020. PMID: 32900570 Free PMC article. Review.
PRCD is essential for high-fidelity photoreceptor disc formation.
Spencer WJ, Ding JD, Lewis TR, Yu C, Phan S, Pearring JN, Kim KY, Thor A, Mathew R, Kalnitsky J, Hao Y, Travis AM, Biswas SK, Lo WK, Besharse JC, Ellisman MH, Saban DR, Burns ME, Arshavsky VY. Spencer WJ, et al. Proc Natl Acad Sci U S A. 2019 Jun 25;116(26):13087-13096. doi: 10.1073/pnas.1906421116. Epub 2019 Jun 12. Proc Natl Acad Sci U S A. 2019. PMID: 31189593 Free PMC article.
De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.
Burrage LC, Charng WL, Eldomery MK, Willer JR, Davis EE, Lugtenberg D, Zhu W, Leduc MS, Akdemir ZC, Azamian M, Zapata G, Hernandez PP, Schoots J, de Munnik SA, Roepman R, Pearring JN, Jhangiani S, Katsanis N, Vissers LE, Brunner HG, Beaudet AL, Rosenfeld JA, Muzny DM, Gibbs RA, Eng CM, Xia F, Lalani SR, Lupski JR, Bongers EM, Yang Y. Burrage LC, et al. Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006. Am J Hum Genet. 2015. PMID: 26637980 Free PMC article.