EY12298/EY/NEI NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
2001	3
2002	2
2004	1
2005	2
2008	1
2024	0

1

Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.

Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, Apfelstedt-Sylla E, Gal A. Thompson DA, et al. Nat Genet. 2001 Jun;28(2):123-4. doi: 10.1038/88828. Nat Genet. 2001. PMID: 11381255

2

Clinical course and visual function in a family with mutations in the RPE65 gene.

Felius J, Thompson DA, Khan NW, Bingham EL, Jamison JA, Kemp JA, Sieving PA. Felius J, et al. Arch Ophthalmol. 2002 Jan;120(1):55-61. doi: 10.1001/archopht.120.1.55. Arch Ophthalmol. 2002. PMID: 11786058

3

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. Invest Ophthalmol Vis Sci. 2004 May;45(5):1456-63. doi: 10.1167/iovs.03-0909. Invest Ophthalmol Vis Sci. 2004. PMID: 15111602

4

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

5

Inhibition of the visual cycle in vivo by 13-cis retinoic acid protects from light damage and provides a mechanism for night blindness in isotretinoin therapy.

Sieving PA, Chaudhry P, Kondo M, Provenzano M, Wu D, Carlson TJ, Bush RA, Thompson DA. Sieving PA, et al. Proc Natl Acad Sci U S A. 2001 Feb 13;98(4):1835-40. doi: 10.1073/pnas.98.4.1835. Epub 2001 Feb 6. Proc Natl Acad Sci U S A. 2001. PMID: 11172037 Free PMC article.

6

Nrl-knockout mice deficient in Rpe65 fail to synthesize 11-cis retinal and cone outer segments.

Feathers KL, Lyubarsky AL, Khan NW, Teofilo K, Swaroop A, Williams DS, Pugh EN Jr, Thompson DA. Feathers KL, et al. Invest Ophthalmol Vis Sci. 2008 Mar;49(3):1126-35. doi: 10.1167/iovs.07-1234. Invest Ophthalmol Vis Sci. 2008. PMID: 18326740 Free PMC article.

7

RPE65 surface epitopes, protein interactions, and expression in rod- and cone-dominant species.

Hemati N, Feathers KL, Chrispell JD, Reed DM, Carlson TJ, Thompson DA. Hemati N, et al. Mol Vis. 2005 Dec 21;11:1151-65. Mol Vis. 2005. PMID: 16379027 Free article.

8

Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively.

Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. Thompson DA, et al. Am J Hum Genet. 2002 Jan;70(1):224-9. doi: 10.1086/338455. Epub 2001 Nov 27. Am J Hum Genet. 2002. PMID: 11727200 Free PMC article.

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