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Page 1
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.
Lamers IJC, Reijnders MRF, Venselaar H, Kraus A; DDD Study; Jansen S, de Vries BBA, Houge G, Gradek GA, Seo J, Choi M, Chae JH, van der Burgt I, Pfundt R, Letteboer SJF, van Beersum SEC, Dusseljee S, Brunner HG, Doherty D, Kleefstra T, Roepman R. Lamers IJC, et al. Among authors: van beersum sec. Am J Hum Genet. 2017 Nov 2;101(5):824-832. doi: 10.1016/j.ajhg.2017.09.015. Epub 2017 Oct 26. Am J Hum Genet. 2017. PMID: 29106825 Free PMC article.
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis.
den Hollander AI, Koenekoop RK, Mohamed MD, Arts HH, Boldt K, Towns KV, Sedmak T, Beer M, Nagel-Wolfrum K, McKibbin M, Dharmaraj S, Lopez I, Ivings L, Williams GA, Springell K, Woods CG, Jafri H, Rashid Y, Strom TM, van der Zwaag B, Gosens I, Kersten FF, van Wijk E, Veltman JA, Zonneveld MN, van Beersum SE, Maumenee IH, Wolfrum U, Cheetham ME, Ueffing M, Cremers FP, Inglehearn CF, Roepman R. den Hollander AI, et al. Nat Genet. 2007 Jul;39(7):889-95. doi: 10.1038/ng2066. Epub 2007 Jun 3. Nat Genet. 2007. PMID: 17546029
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. 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.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
Arts HH, Bongers EM, Mans DA, van Beersum SE, Oud MM, Bolat E, Spruijt L, Cornelissen EA, Schuurs-Hoeijmakers JH, de Leeuw N, Cormier-Daire V, Brunner HG, Knoers NV, Roepman R. Arts HH, et al. J Med Genet. 2011 Jun;48(6):390-5. doi: 10.1136/jmg.2011.088864. Epub 2011 Mar 4. J Med Genet. 2011. PMID: 21378380
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
Cevik S, Sanders AA, Van Wijk E, Boldt K, Clarke L, van Reeuwijk J, Hori Y, Horn N, Hetterschijt L, Wdowicz A, Mullins A, Kida K, Kaplan OI, van Beersum SE, Man Wu K, Letteboer SJ, Mans DA, Katada T, Kontani K, Ueffing M, Roepman R, Kremer H, Blacque OE. Cevik S, et al. PLoS Genet. 2013;9(12):e1003977. doi: 10.1371/journal.pgen.1003977. Epub 2013 Dec 5. PLoS Genet. 2013. PMID: 24339792 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.
Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.
Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R. Eblimit A, et al. Hum Mol Genet. 2015 Mar 15;24(6):1584-601. doi: 10.1093/hmg/ddu573. Epub 2014 Nov 14. Hum Mol Genet. 2015. PMID: 25398945 Free PMC article.
24 results