Roepman R - Search Results

1

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. Among authors: roepman r. 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.

2

Identification of a gene disrupted by a microdeletion in a patient with X-linked retinitis pigmentosa (XLRP).

Roepman R, Bauer D, Rosenberg T, van Duijnhoven G, van de Vosse E, Platzer M, Rosenthal A, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Hum Mol Genet. 1996 Jun;5(6):827-33. doi: 10.1093/hmg/5.6.827. Hum Mol Genet. 1996. PMID: 8776599 Free article.

3

Positional cloning of the gene for X-linked retinitis pigmentosa 3: homology with the guanine-nucleotide-exchange factor RCC1.

Roepman R, van Duijnhoven G, Rosenberg T, Pinckers AJ, Bleeker-Wagemakers LM, Bergen AA, Post J, Beck A, Reinhardt R, Ropers HH, Cremers FP, Berger W. Roepman R, et al. Hum Mol Genet. 1996 Jul;5(7):1035-41. doi: 10.1093/hmg/5.7.1035. Hum Mol Genet. 1996. PMID: 8817343

4

Isolation of retinal proteins that interact with retinitis pigmentosa GTPase regulator by interaction trap screen in yeast.

Roepman R, Schick D, Ferreira PA. Roepman R, et al. Methods Enzymol. 2000;316:688-704. doi: 10.1016/s0076-6879(00)16757-6. Methods Enzymol. 2000. PMID: 10800709 No abstract available.

5

The retinitis pigmentosa GTPase regulator (RPGR) interacts with novel transport-like proteins in the outer segments of rod photoreceptors.

Roepman R, Bernoud-Hubac N, Schick DE, Maugeri A, Berger W, Ropers HH, Cremers FP, Ferreira PA. Roepman R, et al. Hum Mol Genet. 2000 Sep 1;9(14):2095-105. doi: 10.1093/hmg/9.14.2095. Hum Mol Genet. 2000. PMID: 10958648

6

Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations.

Roepman R, Letteboer SJ, Arts HH, van Beersum SE, Lu X, Krieger E, Ferreira PA, Cremers FP. Roepman R, et al. Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18520-5. doi: 10.1073/pnas.0505774102. Epub 2005 Dec 9. Proc Natl Acad Sci U S A. 2005. PMID: 16339905 Free PMC article.

7

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: roepman r. Nat Genet. 2007 Jul;39(7):882-8. doi: 10.1038/ng2069. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558407

8

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: roepman r. 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

9

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: roepman r. 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

10

Versatile screening for binary protein-protein interactions by yeast two-hybrid mating.

Letteboer SJ, Roepman R. Letteboer SJ, et al. Among authors: roepman r. Methods Mol Biol. 2008;484:145-59. doi: 10.1007/978-1-59745-398-1_10. Methods Mol Biol. 2008. PMID: 18592178

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