Roepman R - Search Results

1

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

2

DLG1 functions upstream of SDCCAG3 and IFT20 to control ciliary targeting of polycystin-2.

Rezi CK, Aslanyan MG, Diwan GD, Cheng T, Chamlali M, Junger K, Anvarian Z, Lorentzen E, Pauly KB, Afshar-Bahadori Y, Fernandes EFA, Qian F, Tosi S, Christensen ST, Pedersen SF, Strømgaard K, Russell RB, Miner JH, Mahjoub MR, Boldt K, Roepman R, Pedersen LB. Rezi CK, et al. Among authors: roepman r. bioRxiv [Preprint]. 2024 Mar 14:2023.11.10.566524. doi: 10.1101/2023.11.10.566524. bioRxiv. 2024. Update in: EMBO Rep. 2024 Jul;25(7):3040-3063. doi: 10.1038/s44319-024-00170-1. PMID: 37987012 Free PMC article. Updated. Preprint.

3

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.

4

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

5

The cyclophilin-like domain mediates the association of Ran-binding protein 2 with subunits of the 19 S regulatory complex of the proteasome.

Ferreira PA, Yunfei C, Schick D, Roepman R. Ferreira PA, et al. Among authors: roepman r. J Biol Chem. 1998 Sep 18;273(38):24676-82. doi: 10.1074/jbc.273.38.24676. J Biol Chem. 1998. PMID: 9733766 Free article.

6

RPGR transcription studies in mouse and human tissues reveal a retina-specific isoform that is disrupted in a patient with X-linked retinitis pigmentosa.

Kirschner R, Rosenberg T, Schultz-Heienbrok R, Lenzner S, Feil S, Roepman R, Cremers FP, Ropers HH, Berger W. Kirschner R, et al. Among authors: roepman r. Hum Mol Genet. 1999 Aug;8(8):1571-8. doi: 10.1093/hmg/8.8.1571. Hum Mol Genet. 1999. PMID: 10401007

7

The zinc finger cluster domain of RanBP2 is a specific docking site for the nuclear export factor, exportin-1.

Singh BB, Patel HH, Roepman R, Schick D, Ferreira PA. Singh BB, et al. Among authors: roepman r. J Biol Chem. 1999 Dec 24;274(52):37370-8. doi: 10.1074/jbc.274.52.37370. J Biol Chem. 1999. PMID: 10601307 Free article.

8

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.

9

Genomic organization, expression, and localization of murine Ran-binding protein 2 (RanBP2) gene.

Fauser S, Aslanukov A, Roepman R, Ferreira PA. Fauser S, et al. Among authors: roepman r. Mamm Genome. 2001 Jun;12(6):406-15. doi: 10.1007/s003350010291. Mamm Genome. 2001. PMID: 11353387

10

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. den Hollander AI, et al. Among authors: roepman r. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.

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