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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.
Hjeij R, Onoufriadis A, Watson CM, Slagle CE, Klena NT, Dougherty GW, Kurkowiak M, Loges NT, Diggle CP, Morante NF, Gabriel GC, Lemke KL, Li Y, Pennekamp P, Menchen T, Konert F, Marthin JK, Mans DA, Letteboer SJ, Werner C, Burgoyne T, Westermann C, Rutman A, Carr IM, O'Callaghan C, Moya E, Chung EM; UK10K Consortium; Sheridan E, Nielsen KG, Roepman R, Bartscherer K, Burdine RD, Lo CW, Omran H, Mitchison HM. Hjeij R, et al. Among authors: letteboer sj. Am J Hum Genet. 2014 Sep 4;95(3):257-74. doi: 10.1016/j.ajhg.2014.08.005. Am J Hum Genet. 2014. PMID: 25192045 Free PMC article.
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, Peters TA, Märker T, Voesenek K, Kartono A, Ozyurek H, Farin FM, Kroes HY, Wolfrum U, Brunner HG, Cremers FP, Glass IA, Knoers NV, Roepman R. Arts HH, et al. Among authors: letteboer sj. Nat Genet. 2007 Jul;39(7):882-8. doi: 10.1038/ng2069. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558407
MPP1 links the Usher protein network and the Crumbs protein complex in the retina.
Gosens I, van Wijk E, Kersten FF, Krieger E, van der Zwaag B, Märker T, Letteboer SJ, Dusseljee S, Peters T, Spierenburg HA, Punte IM, Wolfrum U, Cremers FP, Kremer H, Roepman R. Gosens I, et al. Among authors: letteboer sj. Hum Mol Genet. 2007 Aug 15;16(16):1993-2003. doi: 10.1093/hmg/ddm147. Epub 2007 Jun 21. Hum Mol Genet. 2007. PMID: 17584769
FERM protein EPB41L5 is a novel member of the mammalian CRB-MPP5 polarity complex.
Gosens I, Sessa A, den Hollander AI, Letteboer SJ, Belloni V, Arends ML, Le Bivic A, Cremers FP, Broccoli V, Roepman R. Gosens I, et al. Among authors: letteboer sj. Exp Cell Res. 2007 Nov 15;313(19):3959-70. doi: 10.1016/j.yexcr.2007.08.025. Epub 2007 Sep 7. Exp Cell Res. 2007. PMID: 17920587
Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.
van Wijk E, Kersten FF, Kartono A, Mans DA, Brandwijk K, Letteboer SJ, Peters TA, Märker T, Yan X, Cremers CW, Cremers FP, Wolfrum U, Roepman R, Kremer H. van Wijk E, et al. Among authors: letteboer sj. Hum Mol Genet. 2009 Jan 1;18(1):51-64. doi: 10.1093/hmg/ddn312. Epub 2008 Sep 30. Hum Mol Genet. 2009. PMID: 18826961 Free PMC article.
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Gorden NT, Arts HH, Parisi MA, Coene KL, Letteboer SJ, van Beersum SE, Mans DA, Hikida A, Eckert M, Knutzen D, Alswaid AF, Ozyurek H, Dibooglu S, Otto EA, Liu Y, Davis EE, Hutter CM, Bammler TK, Farin FM, Dorschner M, Topçu M, Zackai EH, Rosenthal P, Owens KN, Katsanis N, Vincent JB, Hildebrandt F, Rubel EW, Raible DW, Knoers NV, Chance PF, Roepman R, Moens CB, Glass IA, Doherty D. Gorden NT, et al. Among authors: letteboer sj. Am J Hum Genet. 2008 Nov;83(5):559-71. doi: 10.1016/j.ajhg.2008.10.002. Epub 2008 Oct 23. Am J Hum Genet. 2008. PMID: 18950740 Free PMC article.
OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. Coene KL, et al. Among authors: letteboer sj. Am J Hum Genet. 2009 Oct;85(4):465-81. doi: 10.1016/j.ajhg.2009.09.002. Am J Hum Genet. 2009. PMID: 19800048 Free PMC article.
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F. Fernández-Martínez L, et al. Eur J Hum Genet. 2011 Apr;19(4):445-51. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224891 Free PMC article.
41 results