PubMed (OMIM) for id: 348473

Year	Number of Results
1963	1
1989	1
1992	1
1993	1
1994	1
1995	1
1997	2
1998	3
2000	3
2001	3
2002	3
2003	3
2004	3
2005	2
2023	0

1

RPE65 is the isomerohydrolase in the retinoid visual cycle.

Moiseyev G, Chen Y, Takahashi Y, Wu BX, Ma JX. Moiseyev G, et al. Proc Natl Acad Sci U S A. 2005 Aug 30;102(35):12413-8. doi: 10.1073/pnas.0503460102. Epub 2005 Aug 22. Proc Natl Acad Sci U S A. 2005. PMID: 16116091 Free PMC article.

2

Downregulation of cone-specific gene expression and degeneration of cone photoreceptors in the Rpe65-/- mouse at early ages.

Znoiko SL, Rohrer B, Lu K, Lohr HR, Crouch RK, Ma JX. Znoiko SL, et al. Invest Ophthalmol Vis Sci. 2005 Apr;46(4):1473-9. doi: 10.1167/iovs.04-0653. Invest Ophthalmol Vis Sci. 2005. PMID: 15790918

3

A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.

Kondo H, Qin M, Mizota A, Kondo M, Hayashi H, Hayashi K, Oshima K, Tahira T, Hayashi K. Kondo H, et al. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4433-9. doi: 10.1167/iovs.04-0544. Invest Ophthalmol Vis Sci. 2004. PMID: 15557452

4

A palmitoylation switch mechanism in the regulation of the visual cycle.

Xue L, Gollapalli DR, Maiti P, Jahng WJ, Rando RR. Xue L, et al. Cell. 2004 Jun 11;117(6):761-71. doi: 10.1016/j.cell.2004.05.016. Cell. 2004. PMID: 15186777 Free article.

5

Thirty-year follow-up of a patient with leber congenital amaurosis and novel RPE65 mutations.

Al-Khayer K, Hagstrom S, Pauer G, Zegarra H, Sears J, Traboulsi EI. Al-Khayer K, et al. Am J Ophthalmol. 2004 Feb;137(2):375-7. doi: 10.1016/S0002-9394(03)00913-9. Am J Ophthalmol. 2004. PMID: 14962443

6

Spontaneous activity of opsin apoprotein is a cause of Leber congenital amaurosis.

Woodruff ML, Wang Z, Chung HY, Redmond TM, Fain GL, Lem J. Woodruff ML, et al. Nat Genet. 2003 Oct;35(2):158-64. doi: 10.1038/ng1246. Epub 2003 Sep 21. Nat Genet. 2003. PMID: 14517541

7

The dangers of seeing light in the dark.

Remé CE, Wenzel A. Remé CE, et al. Nat Genet. 2003 Oct;35(2):115-6. doi: 10.1038/ng1003-115. Nat Genet. 2003. PMID: 14517534 No abstract available.

8

ON VARIOUS RECESSIVE BIOTYPES OF LEBER'S CONGENITAL AMAUROSIS.

WAARDENBURG PJ, SCHAPPERT-KIMMIJSER J. WAARDENBURG PJ, et al. Acta Ophthalmol (Copenh). 1963;41:317-20. doi: 10.1111/j.1755-3768.1963.tb02444.x. Acta Ophthalmol (Copenh). 1963. PMID: 14047474 No abstract available.

9

Correlation of regenerable opsin with rod ERG signal in Rpe65-/- mice during development and aging.

Rohrer B, Goletz P, Znoiko S, Ablonczy Z, Ma JX, Redmond TM, Crouch RK. Rohrer B, et al. Invest Ophthalmol Vis Sci. 2003 Jan;44(1):310-5. doi: 10.1167/iovs.02-0567. Invest Ophthalmol Vis Sci. 2003. PMID: 12506090

10

Recovery of visual functions in a mouse model of Leber congenital amaurosis.

Van Hooser JP, Liang Y, Maeda T, Kuksa V, Jang GF, He YG, Rieke F, Fong HK, Detwiler PB, Palczewski K. Van Hooser JP, et al. J Biol Chem. 2002 May 24;277(21):19173-82. doi: 10.1074/jbc.M112384200. Epub 2002 Mar 15. J Biol Chem. 2002. PMID: 11897783 Free PMC article.

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