Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 125

1.

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with Rab geranylgeranyl transferase.

Esposito G, De Falco F, Tinto N, Testa F, Vitagliano L, Tandurella IC, Iannone L, Rossi S, Rinaldi E, Simonelli F, Zagari A, Salvatore F.

Hum Mutat. 2011 Dec;32(12):1460-9. doi: 10.1002/humu.21591. Epub 2011 Oct 11.

PMID:
21905166
2.

Rab escort protein 1 (REP1) in intracellular traffic: a functional and pathophysiological overview.

Preising M, Ayuso C.

Ophthalmic Genet. 2004 Jun;25(2):101-10. Review.

PMID:
15370541
3.

Novel truncating mutations of the CHM gene in Chinese patients with choroideremia.

Yip SP, Cheung TS, Chu MY, Cheung SC, Leung KW, Tsang KP, Lam ST, To CH.

Mol Vis. 2007 Nov 27;13:2183-93.

PMID:
18087237
4.

Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia.

Tolmachova T, Anders R, Abrink M, Bugeon L, Dallman MJ, Futter CE, Ramalho JS, Tonagel F, Tanimoto N, Seeliger MW, Huxley C, Seabra MC.

J Clin Invest. 2006 Feb;116(2):386-94. Epub 2006 Jan 12.

5.

CHM/REP1 cDNA delivery by lentiviral vectors provides functional expression of the transgene in the retinal pigment epithelium of choroideremia mice.

Tolmachova T, Tolmachov OE, Wavre-Shapton ST, Tracey-White D, Futter CE, Seabra MC.

J Gene Med. 2012 Mar;14(3):158-68. doi: 10.1002/jgm.1652.

PMID:
22228595
6.

CHM gene molecular analysis and X-chromosome inactivation pattern determination in two families with choroideremia.

Perez-Cano HJ, Garnica-Hayashi RE, Zenteno JC.

Am J Med Genet A. 2009 Oct;149A(10):2134-40. doi: 10.1002/ajmg.a.32727.

PMID:
19764077
7.

Functional expression of Rab escort protein 1 following AAV2-mediated gene delivery in the retina of choroideremia mice and human cells ex vivo.

Tolmachova T, Tolmachov OE, Barnard AR, de Silva SR, Lipinski DM, Walker NJ, Maclaren RE, Seabra MC.

J Mol Med (Berl). 2013 Jul;91(7):825-37. doi: 10.1007/s00109-013-1006-4. Epub 2013 Jun 12.

8.

Fundus autofluorescence in carriers of choroideremia and correlation with electrophysiologic and psychophysical data.

Preising MN, Wegscheider E, Friedburg C, Poloschek CM, Wabbels BK, Lorenz B.

Ophthalmology. 2009 Jun;116(6):1201-9.e1-2. doi: 10.1016/j.ophtha.2009.01.016. Epub 2009 Apr 19.

PMID:
19376587
9.

Single choroideremia gene in nonmammalian vertebrates explains early embryonic lethality of the zebrafish model of choroideremia.

Moosajee M, Tulloch M, Baron RA, Gregory-Evans CY, Pereira-Leal JB, Seabra MC.

Invest Ophthalmol Vis Sci. 2009 Jun;50(6):3009-16. doi: 10.1167/iovs.08-2755. Epub 2008 Dec 30.

PMID:
19117920
10.

Mutational analysis of patients with the diagnosis of choroideremia.

McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM.

Hum Mutat. 2002 Sep;20(3):189-96.

PMID:
12203991
11.

Genetic analysis of choroideremia families in the Australian population.

McLaren TL, De Roach JN, Montgomery H, Hoffmann L, Kap C, Lamey TM.

Clin Exp Ophthalmol. 2015 Nov;43(8):727-34. doi: 10.1111/ceo.12542. Epub 2015 Jul 17.

PMID:
25912515
12.

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

Strunnikova NV, Barb J, Sergeev YV, Thiagarajasubramanian A, Silvin C, Munson PJ, Macdonald IM.

PLoS One. 2009 Dec 22;4(12):e8402. doi: 10.1371/journal.pone.0008402.

13.

Molecular analysis of the choroideremia gene related clinical findings in two families with choroideremia.

Lin Y, Liu X, Luo L, Qu B, Jiang S, Yang H, Liang X, Ye S, Liu Y.

Mol Vis. 2011;17:2564-9. Epub 2011 Sep 30.

14.

The functional effect of pathogenic mutations in Rab escort protein 1.

Sergeev YV, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald IM.

Mutat Res. 2009 Jun 1;665(1-2):44-50. doi: 10.1016/j.mrfmmm.2009.02.015. Epub 2009 Mar 13.

15.
16.

Genetic and phenotypic characteristics of three Mainland Chinese families with choroideremia.

Zhou Q, Liu L, Xu F, Li H, Sergeev Y, Dong F, Jiang R, MacDonald I, Sui R.

Mol Vis. 2012;18:309-16. Epub 2012 Feb 3.

17.

Molecular basis for Rab prenylation.

Alory C, Balch WE.

J Cell Biol. 2000 Jul 10;150(1):89-103.

18.

Novel types of mutation in the choroideremia ( CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.

van den Hurk JA, van de Pol DJ, Wissinger B, van Driel MA, Hoefsloot LH, de Wijs IJ, van den Born LI, Heckenlively JR, Brunner HG, Zrenner E, Ropers HH, Cremers FP.

Hum Genet. 2003 Aug;113(3):268-75. Epub 2003 Jun 25.

PMID:
12827496
19.

Conditional ablation of the choroideremia gene causes age-related changes in mouse retinal pigment epithelium.

Wavre-Shapton ST, Tolmachova T, Lopes da Silva M, Futter CE, Seabra MC.

PLoS One. 2013;8(2):e57769. doi: 10.1371/journal.pone.0057769. Epub 2013 Feb 27. Erratum in: PLoS One. 2013;8(5). doi:10.1371/annotation/83a88285-e6a0-41fb-ae67-4315c21e5090. da Silva, Mafalda Lopes [corrected to Lopes da Silva, Mafalda].

20.

Prenylation of Rab GTPases: molecular mechanisms and involvement in genetic disease.

Pereira-Leal JB, Hume AN, Seabra MC.

FEBS Lett. 2001 Jun 8;498(2-3):197-200. Review.

Supplemental Content

Support Center