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Page 1
Regulation of E2F1 by the von Hippel-Lindau tumour suppressor protein predicts survival in renal cell cancer patients.
Mans DA, Vermaat JS, Weijts BG, van Rooijen E, van Reeuwijk J, Boldt K, Daenen LG, van der Groep P, Rowland BD, Jans JJ, Roepman R, Voest EE, van Diest PJ, Verhaar MC, de Bruin A, Giles RH. Mans DA, et al. Among authors: van der groep p, van reeuwijk j, van diest pj, van rooijen e. J Pathol. 2013 Sep;231(1):117-29. doi: 10.1002/path.4219. J Pathol. 2013. PMID: 23744542
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
Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
Gilissen C, Arts HH, Hoischen A, Spruijt L, Mans DA, Arts P, van Lier B, Steehouwer M, van Reeuwijk J, Kant SG, Roepman R, Knoers NV, Veltman JA, Brunner HG. Gilissen C, et al. Among authors: van reeuwijk j, van lier b. Am J Hum Genet. 2010 Sep 10;87(3):418-23. doi: 10.1016/j.ajhg.2010.08.004. Am J Hum Genet. 2010. PMID: 20817137 Free PMC article.
Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy.
Otto EA, Hurd TW, Airik R, Chaki M, Zhou W, Stoetzel C, Patil SB, Levy S, Ghosh AK, Murga-Zamalloa CA, van Reeuwijk J, Letteboer SJ, Sang L, Giles RH, Liu Q, Coene KL, Estrada-Cuzcano A, Collin RW, McLaughlin HM, Held S, Kasanuki JM, Ramaswami G, Conte J, Lopez I, Washburn J, Macdonald J, Hu J, Yamashita Y, Maher ER, Guay-Woodford LM, Neumann HP, Obermüller N, Koenekoop RK, Bergmann C, Bei X, Lewis RA, Katsanis N, Lopes V, Williams DS, Lyons RH, Dang CV, Brito DA, Dias MB, Zhang X, Cavalcoli JD, Nürnberg G, Nürnberg P, Pierce EA, Jackson PK, Antignac C, Saunier S, Roepman R, Dollfus H, Khanna H, Hildebrandt F. Otto EA, et al. Among authors: van reeuwijk j. Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12. Nat Genet. 2010. PMID: 20835237 Free PMC article.
Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice.
Boldt K, Mans DA, Won J, van Reeuwijk J, Vogt A, Kinkl N, Letteboer SJ, Hicks WL, Hurd RE, Naggert JK, Texier Y, den Hollander AI, Koenekoop RK, Bennett J, Cremers FP, Gloeckner CJ, Nishina PM, Roepman R, Ueffing M. Boldt K, et al. Among authors: van reeuwijk j. J Clin Invest. 2011 Jun;121(6):2169-80. doi: 10.1172/JCI45627. Epub 2011 May 23. J Clin Invest. 2011. PMID: 21606596 Free PMC article.
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.
Coene KL, Mans DA, Boldt K, Gloeckner CJ, van Reeuwijk J, Bolat E, Roosing S, Letteboer SJ, Peters TA, Cremers FP, Ueffing M, Roepman R. Coene KL, et al. Among authors: van reeuwijk j. Hum Mol Genet. 2011 Sep 15;20(18):3592-605. doi: 10.1093/hmg/ddr280. Epub 2011 Jun 17. Hum Mol Genet. 2011. PMID: 21685204
Elution profile analysis of SDS-induced subcomplexes by quantitative mass spectrometry.
Texier Y, Toedt G, Gorza M, Mans DA, van Reeuwijk J, Horn N, Willer J, Katsanis N, Roepman R, Gibson TJ, Ueffing M, Boldt K. Texier Y, et al. Among authors: van reeuwijk j. Mol Cell Proteomics. 2014 May;13(5):1382-91. doi: 10.1074/mcp.O113.033233. Epub 2014 Feb 21. Mol Cell Proteomics. 2014. PMID: 24563533 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. 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.
54 results