Thompson DA - Search Results

1

The phenotype of early-onset retinal degeneration in persons with RDH12 mutations.

Schuster A, Janecke AR, Wilke R, Schmid E, Thompson DA, Utermann G, Wissinger B, Zrenner E, Gal A. Schuster A, et al. Among authors: thompson da. Invest Ophthalmol Vis Sci. 2007 Apr;48(4):1824-31. doi: 10.1167/iovs.06-0628. Invest Ophthalmol Vis Sci. 2007. PMID: 17389517

2

Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy.

Janecke AR, Thompson DA, Utermann G, Becker C, Hübner CA, Schmid E, McHenry CL, Nair AR, Rüschendorf F, Heckenlively J, Wissinger B, Nürnberg P, Gal A. Janecke AR, et al. Among authors: thompson da. Nat Genet. 2004 Aug;36(8):850-4. doi: 10.1038/ng1394. Epub 2004 Jul 18. Nat Genet. 2004. PMID: 15258582

3

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A. Thompson DA, et al. Hum Mol Genet. 2005 Dec 15;14(24):3865-75. doi: 10.1093/hmg/ddi411. Epub 2005 Nov 3. Hum Mol Genet. 2005. PMID: 16269441

4

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration.

Thompson DA, Gyürüs P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. Thompson DA, et al. Invest Ophthalmol Vis Sci. 2000 Dec;41(13):4293-9. Invest Ophthalmol Vis Sci. 2000. PMID: 11095629

5

Vitamin A metabolism in the retinal pigment epithelium: genes, mutations, and diseases.

Thompson DA, Gal A. Thompson DA, et al. Prog Retin Eye Res. 2003 Sep;22(5):683-703. doi: 10.1016/s1350-9462(03)00051-x. Prog Retin Eye Res. 2003. PMID: 12892646 Review.

6

MERTK arginine-844-cysteine in a patient with severe rod-cone dystrophy: loss of mutant protein function in transfected cells.

McHenry CL, Liu Y, Feng W, Nair AR, Feathers KL, Ding X, Gal A, Vollrath D, Sieving PA, Thompson DA. McHenry CL, et al. Among authors: thompson da. Invest Ophthalmol Vis Sci. 2004 May;45(5):1456-63. doi: 10.1167/iovs.03-0909. Invest Ophthalmol Vis Sci. 2004. PMID: 15111602

7

Targeted disruption of the murine retinal dehydrogenase gene Rdh12 does not limit visual cycle function.

Kurth I, Thompson DA, Rüther K, Feathers KL, Chrispell JD, Schroth J, McHenry CL, Schweizer M, Skosyrski S, Gal A, Hübner CA. Kurth I, et al. Among authors: thompson da. Mol Cell Biol. 2007 Feb;27(4):1370-9. doi: 10.1128/MCB.01486-06. Epub 2006 Nov 27. Mol Cell Biol. 2007. PMID: 17130236 Free PMC article.

8

Genetic defects in vitamin A metabolism of the retinal pigment epithelium.

Thompson DA, Gal A. Thompson DA, et al. Dev Ophthalmol. 2003;37:141-54. doi: 10.1159/000072044. Dev Ophthalmol. 2003. PMID: 12876835 Review.

9

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA. Jacobson SG, et al. Among authors: thompson da. Invest Ophthalmol Vis Sci. 2007 Jan;48(1):332-8. doi: 10.1167/iovs.06-0599. Invest Ophthalmol Vis Sci. 2007. PMID: 17197551

10

Rdh12 activity and effects on retinoid processing in the murine retina.

Chrispell JD, Feathers KL, Kane MA, Kim CY, Brooks M, Khanna R, Kurth I, Hübner CA, Gal A, Mears AJ, Swaroop A, Napoli JL, Sparrow JR, Thompson DA. Chrispell JD, et al. Among authors: thompson da. J Biol Chem. 2009 Aug 7;284(32):21468-77. doi: 10.1074/jbc.M109.020966. Epub 2009 Jun 8. J Biol Chem. 2009. PMID: 19506076 Free PMC article.

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