Swaroop A - Search Results

1

Canine RD3 mutation establishes rod-cone dysplasia type 2 (rcd2) as ortholog of human and murine rd3.

Kukekova AV, Goldstein O, Johnson JL, Richardson MA, Pearce-Kelling SE, Swaroop A, Friedman JS, Aguirre GD, Acland GM. Kukekova AV, et al. Among authors: swaroop a. Mamm Genome. 2009 Feb;20(2):109-23. doi: 10.1007/s00335-008-9163-4. Epub 2009 Jan 9. Mamm Genome. 2009. PMID: 19130129 Free PMC article.

2

Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15.

Aguirre GD, Yashar BM, John SK, Smith JE, Breuer DK, Hiriyanna S, Swaroop A, Milam AH. Aguirre GD, et al. Among authors: swaroop a. Exp Eye Res. 2002 Oct;75(4):431-43. Exp Eye Res. 2002. PMID: 12387791

3

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A. Friedman JS, et al. Among authors: swaroop a. Am J Hum Genet. 2006 Dec;79(6):1059-70. doi: 10.1086/510021. Epub 2006 Oct 23. Am J Hum Genet. 2006. PMID: 17186464 Free PMC article.

4

Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function.

Nishiguchi KM, Friedman JS, Sandberg MA, Swaroop A, Berson EL, Dryja TP. Nishiguchi KM, et al. Among authors: swaroop a. Proc Natl Acad Sci U S A. 2004 Dec 21;101(51):17819-24. doi: 10.1073/pnas.0408183101. Epub 2004 Dec 9. Proc Natl Acad Sci U S A. 2004. PMID: 15591106 Free PMC article.

5

Retinopathy mutations in the bZIP protein NRL alter phosphorylation and transcriptional activity.

Kanda A, Friedman JS, Nishiguchi KM, Swaroop A. Kanda A, et al. Among authors: swaroop a. Hum Mutat. 2007 Jun;28(6):589-98. doi: 10.1002/humu.20488. Hum Mutat. 2007. PMID: 17335001 Free article.

6

Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa.

Beltran WA, Cideciyan AV, Lewin AS, Iwabe S, Khanna H, Sumaroka A, Chiodo VA, Fajardo DS, Román AJ, Deng WT, Swider M, Alemán TS, Boye SL, Genini S, Swaroop A, Hauswirth WW, Jacobson SG, Aguirre GD. Beltran WA, et al. Among authors: swaroop a. Proc Natl Acad Sci U S A. 2012 Feb 7;109(6):2132-7. doi: 10.1073/pnas.1118847109. Epub 2012 Jan 23. Proc Natl Acad Sci U S A. 2012. PMID: 22308428 Free PMC article.

7

Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.

Hugosson T, Friedman JS, Ponjavic V, Abrahamson M, Swaroop A, Andréasson S. Hugosson T, et al. Among authors: swaroop a. Arch Ophthalmol. 2010 Jun;128(6):772-8. doi: 10.1001/archophthalmol.2010.98. Arch Ophthalmol. 2010. PMID: 20547956 Free PMC article.

8

Altered expression of genes of the Bmp/Smad and Wnt/calcium signaling pathways in the cone-only Nrl-/- mouse retina, revealed by gene profiling using custom cDNA microarrays.

Yu J, He S, Friedman JS, Akimoto M, Ghosh D, Mears AJ, Hicks D, Swaroop A. Yu J, et al. Among authors: swaroop a. J Biol Chem. 2004 Oct 1;279(40):42211-20. doi: 10.1074/jbc.M408223200. Epub 2004 Jul 28. J Biol Chem. 2004. PMID: 15292180 Free article.

9

Retinoic acid regulates the expression of photoreceptor transcription factor NRL.

Khanna H, Akimoto M, Siffroi-Fernandez S, Friedman JS, Hicks D, Swaroop A. Khanna H, et al. Among authors: swaroop a. J Biol Chem. 2006 Sep 15;281(37):27327-34. doi: 10.1074/jbc.M605500200. Epub 2006 Jul 19. J Biol Chem. 2006. PMID: 16854989 Free PMC article.

10

Expression profiling of the developing and mature Nrl-/- mouse retina: identification of retinal disease candidates and transcriptional regulatory targets of Nrl.

Yoshida S, Mears AJ, Friedman JS, Carter T, He S, Oh E, Jing Y, Farjo R, Fleury G, Barlow C, Hero AO, Swaroop A. Yoshida S, et al. Among authors: swaroop a. Hum Mol Genet. 2004 Jul 15;13(14):1487-503. doi: 10.1093/hmg/ddh160. Epub 2004 May 26. Hum Mol Genet. 2004. PMID: 15163632

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