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Association of whirlin with Cav1.3 (alpha1D) channels in photoreceptors, defining a novel member of the usher protein network.
Kersten FF, van Wijk E, van Reeuwijk J, van der Zwaag B, Märker T, Peters TA, Katsanis N, Wolfrum U, Keunen JE, Roepman R, Kremer H. Kersten FF, et al. Among authors: van reeuwijk j, van der zwaag b, van wijk e. Invest Ophthalmol Vis Sci. 2010 May;51(5):2338-46. doi: 10.1167/iovs.09-4650. Epub 2009 Dec 3. Invest Ophthalmol Vis Sci. 2010. PMID: 19959638
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Collin RW, Nikopoulos K, Dona M, Gilissen C, Hoischen A, Boonstra FN, Poulter JA, Kondo H, Berger W, Toomes C, Tahira T, Mohn LR, Blokland EA, Hetterschijt L, Ali M, Groothuismink JM, Duijkers L, Inglehearn CF, Sollfrank L, Strom TM, Uchio E, van Nouhuys CE, Kremer H, Veltman JA, van Wijk E, Cremers FP. Collin RW, et al. Among authors: van nouhuys ce, van wijk e. Proc Natl Acad Sci U S A. 2013 Jun 11;110(24):9856-61. doi: 10.1073/pnas.1220864110. Epub 2013 May 28. Proc Natl Acad Sci U S A. 2013. PMID: 23716654 Free PMC article.
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH; POC1B Study Group; Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP. Roosing S, et al. Among authors: van den born li, van wijk e. Am J Hum Genet. 2014 Aug 7;95(2):131-42. doi: 10.1016/j.ajhg.2014.06.012. Epub 2014 Jul 10. Am J Hum Genet. 2014. PMID: 25018096 Free PMC article.
Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.
Slijkerman RW, Vaché C, Dona M, García-García G, Claustres M, Hetterschijt L, Peters TA, Hartel BP, Pennings RJ, Millan JM, Aller E, Garanto A, Collin RW, Kremer H, Roux AF, Van Wijk E. Slijkerman RW, et al. Among authors: van wijk e. Mol Ther Nucleic Acids. 2016 Nov 1;5(10):e381. doi: 10.1038/mtna.2016.89. Mol Ther Nucleic Acids. 2016. PMID: 27802265 Free article.
Usherin defects lead to early-onset retinal dysfunction in zebrafish.
Dona M, Slijkerman R, Lerner K, Broekman S, Wegner J, Howat T, Peters T, Hetterschijt L, Boon N, de Vrieze E, Sorusch N, Wolfrum U, Kremer H, Neuhauss S, Zang J, Kamermans M, Westerfield M, Phillips J, van Wijk E. Dona M, et al. Among authors: van wijk e. Exp Eye Res. 2018 Aug;173:148-159. doi: 10.1016/j.exer.2018.05.015. Epub 2018 May 16. Exp Eye Res. 2018. PMID: 29777677 Free PMC article.
189 results