Swaroop A - Search Results

1

In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations.

Shimada H, Lu Q, Insinna-Kettenhofen C, Nagashima K, English MA, Semler EM, Mahgerefteh J, Cideciyan AV, Li T, Brooks BP, Gunay-Aygun M, Jacobson SG, Cogliati T, Westlake CJ, Swaroop A. Shimada H, et al. Among authors: swaroop a. Cell Rep. 2017 Jul 11;20(2):384-396. doi: 10.1016/j.celrep.2017.06.045. Cell Rep. 2017. PMID: 28700940 Free PMC article.

2

Disease expression in X-linked retinitis pigmentosa caused by a putative null mutation in the RPGR gene.

Jacobson SG, Buraczynska M, Milam AH, Chen C, Järvaläinen M, Fujita R, Wu W, Huang Y, Cideciyan AV, Swaroop A. Jacobson SG, et al. Among authors: swaroop a. Invest Ophthalmol Vis Sci. 1997 Sep;38(10):1983-97. Invest Ophthalmol Vis Sci. 1997. PMID: 9331262

3

Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration.

Swain PK, Chen S, Wang QL, Affatigato LM, Coats CL, Brady KD, Fishman GA, Jacobson SG, Swaroop A, Stone E, Sieving PA, Zack DJ. Swain PK, et al. Among authors: swaroop a. Neuron. 1997 Dec;19(6):1329-36. doi: 10.1016/s0896-6273(00)80423-7. Neuron. 1997. PMID: 9427255 Free article.

4

A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.

Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. Gieser L, et al. Among authors: swaroop a. Am J Hum Genet. 1998 Nov;63(5):1439-47. doi: 10.1086/302121. Am J Hum Genet. 1998. PMID: 9792872 Free PMC article.

5

Mutation screening of patients with Leber Congenital Amaurosis or the enhanced S-Cone Syndrome reveals a lack of sequence variations in the NRL gene.

Acar C, Mears AJ, Yashar BM, Maheshwary AS, Andreasson S, Baldi A, Sieving PA, Iannaccone A, Musarella MA, Jacobson SG, Swaroop A. Acar C, et al. Among authors: swaroop a. Mol Vis. 2003 Jan 24;9:14-7. Mol Vis. 2003. PMID: 12552256 Free article.

6

De novo mutation in the RP1 gene (Arg677ter) associated with retinitis pigmentosa.

Schwartz SB, Aleman TS, Cideciyan AV, Swaroop A, Jacobson SG, Stone EM. Schwartz SB, et al. Among authors: swaroop a. Invest Ophthalmol Vis Sci. 2003 Aug;44(8):3593-7. doi: 10.1167/iovs.03-0155. Invest Ophthalmol Vis Sci. 2003. PMID: 12882812

7

QRX, a novel homeobox gene, modulates photoreceptor gene expression.

Wang QL, Chen S, Esumi N, Swain PK, Haines HS, Peng G, Melia BM, McIntosh I, Heckenlively JR, Jacobson SG, Stone EM, Swaroop A, Zack DJ. Wang QL, et al. Among authors: swaroop a. Hum Mol Genet. 2004 May 15;13(10):1025-40. doi: 10.1093/hmg/ddh117. Epub 2004 Mar 17. Hum Mol Genet. 2004. PMID: 15028672

8

Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration.

Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Jacobson SG, et al. Among authors: swaroop a. Hum Mol Genet. 2004 Sep 1;13(17):1893-902. doi: 10.1093/hmg/ddh198. Epub 2004 Jun 30. Hum Mol Genet. 2004. PMID: 15229190

9

Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome.

Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, Cideciyan AV, Stone EM, Jacobson SG, Swaroop A. Wright AF, et al. Among authors: swaroop a. Hum Mutat. 2004 Nov;24(5):439. doi: 10.1002/humu.9285. Hum Mutat. 2004. PMID: 15459973

10

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.

Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A. Cheng H, et al. Among authors: swaroop a. Hum Mol Genet. 2006 Sep 1;15(17):2588-602. doi: 10.1093/hmg/ddl185. Epub 2006 Jul 25. Hum Mol Genet. 2006. PMID: 16868010 Free PMC article.

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