Khanna H - Search Results

1

RPGR isoform imbalance causes ciliary defects due to exon ORF15 mutations in X-linked retinitis pigmentosa (XLRP).

Moreno-Leon L, West EL, O'Hara-Wright M, Li L, Nair R, He J, Anand M, Sahu B, Chavali VRM, Smith AJ, Ali RR, Jacobson SG, Cideciyan AV, Khanna H. Moreno-Leon L, et al. Among authors: khanna h. Hum Mol Genet. 2021 Jan 21;29(22):3706-3716. doi: 10.1093/hmg/ddaa269. Hum Mol Genet. 2021. PMID: 33355362 Free PMC article.

2

Ablation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary composition.

Rao KN, Li L, Anand M, Khanna H. Rao KN, et al. Among authors: khanna h. Sci Rep. 2015 Jun 11;5:11137. doi: 10.1038/srep11137. Sci Rep. 2015. PMID: 26068394 Free PMC article.

3

Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.

Rao KN, Zhang W, Li L, Ronquillo C, Baehr W, Khanna H. Rao KN, et al. Among authors: khanna h. Hum Mol Genet. 2016 May 15;25(10):2005-2012. doi: 10.1093/hmg/ddw075. Epub 2016 Mar 2. Hum Mol Genet. 2016. PMID: 26936822 Free PMC article.

4

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Charng J, et al. Among authors: khanna h. Hum Mol Genet. 2016 Dec 15;25(24):5444-5459. doi: 10.1093/hmg/ddw361. Hum Mol Genet. 2016. PMID: 27798110 Free PMC article.

5

Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.

Rao KN, Zhang W, Li L, Anand M, Khanna H. Rao KN, et al. Among authors: khanna h. Hum Mol Genet. 2016 Oct 15;25(20):4533-4545. doi: 10.1093/hmg/ddw281. Hum Mol Genet. 2016. PMID: 28172980 Free PMC article.

6

Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.

Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Charng J, et al. Among authors: khanna h. Hum Mol Genet. 2019 Jan 1;28(1):175. doi: 10.1093/hmg/ddy342. Hum Mol Genet. 2019. PMID: 30285110 Free PMC article. No abstract available.

7

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.

Anand M, Khanna H. Anand M, et al. Among authors: khanna h. Expert Opin Ther Targets. 2012 Jun;16(6):541-51. doi: 10.1517/14728222.2012.680956. Epub 2012 May 7. Expert Opin Ther Targets. 2012. PMID: 22563985 Free PMC article. Review.

8

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A. Cideciyan AV, et al. Among authors: khanna h. Hum Mutat. 2007 Nov;28(11):1074-83. doi: 10.1002/humu.20565. Hum Mutat. 2007. PMID: 17554762 Free article.

9

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: khanna h. 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.

10

Cilia in photoreceptors.

Li L, Anand M, Rao KN, Khanna H. Li L, et al. Among authors: khanna h. Methods Cell Biol. 2015;127:75-92. doi: 10.1016/bs.mcb.2014.12.005. Epub 2015 Feb 14. Methods Cell Biol. 2015. PMID: 25837387

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