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Results: 10

1.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A.

Hum Mol Genet. 2006 Jun 1;15(11):1847-57. Epub 2006 Apr 21.

PMID:
16632484
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Murga-Zamalloa CA, Swaroop A, Khanna H.

J Genet. 2009 Dec;88(4):399-407. Review.

PMID:
20090203
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.

Hosch J, Lorenz B, Stieger K.

Ophthalmic Genet. 2011 Mar;32(1):1-11. doi: 10.3109/13816810.2010.535889. Epub 2010 Dec 21. Review.

PMID:
21174525
[PubMed - indexed for MEDLINE]
4.

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.

Anand M, Khanna H.

Expert Opin Ther Targets. 2012 Jun;16(6):541-51. doi: 10.1517/14728222.2012.680956. Epub 2012 May 7. Review.

PMID:
22563985
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).

Murga-Zamalloa C, Swaroop A, Khanna H.

Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_13. Review.

PMID:
20238008
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Epub 2008 Jun 1. Review.

PMID:
18632300
[PubMed - indexed for MEDLINE]
7.

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA.

Hum Mol Genet. 2012 Oct 15;21(R1):R111-24. Epub 2012 Jul 26. Review.

PMID:
22843501
[PubMed - indexed for MEDLINE]
Free Article
8.

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.

Koenekoop RK.

Ophthalmic Genet. 2005 Dec;26(4):175-9. Review.

PMID:
16352478
[PubMed - indexed for MEDLINE]
9.

Composition and function of the Crumbs protein complex in the mammalian retina.

Gosens I, den Hollander AI, Cremers FP, Roepman R.

Exp Eye Res. 2008 May;86(5):713-26. doi: 10.1016/j.exer.2008.02.005. Epub 2008 Feb 26. Review.

PMID:
18407265
[PubMed - indexed for MEDLINE]
10.

Photoreceptor sensory cilia and inherited retinal degeneration.

Liu Q, Zhang Q, Pierce EA.

Adv Exp Med Biol. 2010;664:223-32. doi: 10.1007/978-1-4419-1399-9_26. Review.

PMID:
20238021
[PubMed - indexed for MEDLINE]
Free PMC Article

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