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Items: 1 to 20 of 30

1.

The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.

Veltel S, Gasper R, Eisenacher E, Wittinghofer A.

Nat Struct Mol Biol. 2008 Apr;15(4):373-80. doi: 10.1038/nsmb.1396. Epub 2008 Mar 23.

PMID:
18376416
2.
3.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V, Jambou M, Delphin N, Zinovieva E, Stum M, Gigarel N, Dollfus H, Hamel C, Toutain A, Dufier JL, Roche O, Munnich A, Bonnefont JP, Kaplan J, Rozet JM.

Hum Mutat. 2007 Jan;28(1):81-91.

PMID:
16969763
4.

ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development.

Schrick JJ, Vogel P, Abuin A, Hampton B, Rice DS.

Am J Pathol. 2006 Apr;168(4):1288-98.

5.

Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.

K├╝hnel K, Veltel S, Schlichting I, Wittinghofer A.

Structure. 2006 Feb;14(2):367-78.

6.

Arg120stop nonsense mutation in the RP2 gene: mutational hotspot and germ line mosaicism?

Vorster AA, Rebello MT, Coutts N, Ehrenreich L, Gama AD, Roberts LJ, Goliath R, Ramesar R, Greenberg LJ.

Clin Genet. 2004 Jan;65(1):7-10.

PMID:
15032968
7.

An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.

Dandekar SS, Ebenezer ND, Grayson C, Chapple JP, Egan CA, Holder GE, Jenkins SA, Fitzke FW, Cheetham ME, Webster AR, Hardcastle AJ.

Br J Ophthalmol. 2004 Apr;88(4):528-32.

8.

RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.

Sharon D, Sandberg MA, Rabe VW, Stillberger M, Dryja TP, Berson EL.

Am J Hum Genet. 2003 Nov;73(5):1131-46. Epub 2003 Oct 16.

9.

Arf and its many interactors.

Nie Z, Hirsch DS, Randazzo PA.

Curr Opin Cell Biol. 2003 Aug;15(4):396-404. Review.

PMID:
12892779
10.

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I, Brandau O, Achatz H, Apfelstedt-Sylla E, Hergersberg M, Lorenz B, Wissinger B, Wittwer B, Rudolph G, Meindl A, Meitinger T.

Invest Ophthalmol Vis Sci. 2003 Apr;44(4):1458-63.

PMID:
12657579
11.

Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2.

Chapple JP, Hardcastle AJ, Grayson C, Willison KR, Cheetham ME.

Invest Ophthalmol Vis Sci. 2002 Jun;43(6):2015-20.

PMID:
12037013
12.

A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.

Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 2002 Jun;70(6):1545-54. Epub 2002 Apr 30.

13.

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

De Luca A, Torrente I, Mangino M, Danesi R, Dallapiccola B, Novelli G.

Mutat Res. 2001 Jan;432(3-4):79-82.

PMID:
11465545
14.
15.

Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.

Chapple JP, Hardcastle AJ, Grayson C, Spackman LA, Willison KR, Cheetham ME.

Hum Mol Genet. 2000 Aug 12;9(13):1919-26.

PMID:
10942419
16.

X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.

Sharon D, Bruns GA, McGee TL, Sandberg MA, Berson EL, Dryja TP.

Invest Ophthalmol Vis Sci. 2000 Aug;41(9):2712-21.

PMID:
10937588
17.

A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.

Wada Y, Nakazawa M, Abe T, Tamai M.

Invest Ophthalmol Vis Sci. 2000 Jan;41(1):290-3.

PMID:
10634633
18.

Genotype-phenotype correlation in X-linked retinitis pigmentosa 2 (RP2).

Rosenberg T, Schwahn U, Feil S, Berger W.

Ophthalmic Genet. 1999 Sep;20(3):161-72.

PMID:
10520237
19.

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

Hardcastle AJ, Thiselton DL, Van Maldergem L, Saha BK, Jay M, Plant C, Taylor R, Bird AC, Bhattacharya S.

Am J Hum Genet. 1999 Apr;64(4):1210-5. No abstract available.

20.

Protein-truncation mutations in the RP2 gene in a North American cohort of families with X-linked retinitis pigmentosa.

Mears AJ, Gieser L, Yan D, Chen C, Fahrner S, Hiriyanna S, Fujita R, Jacobson SG, Sieving PA, Swaroop A.

Am J Hum Genet. 1999 Mar;64(3):897-900. No abstract available.

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