Beltran, William A; Cideciyan, Artur V; Lewin, Alfred S et al. (2014) Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGR. Cold Spring Harb Perspect Med 5:a017392
|
Branham, Kari; Othman, Mohammad; Brumm, Matthew et al. (2012) Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci 53:8232-7
|
Beltran, William A; Cideciyan, Artur V; Lewin, Alfred S et al. (2012) Gene therapy rescues photoreceptor blindness in dogs and paves the way for treating human X-linked retinitis pigmentosa. Proc Natl Acad Sci U S A 109:2132-7
|
Chakarova, Christina F; Khanna, Hemant; Shah, Amna Z et al. (2011) TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum Mol Genet 20:975-87
|
Murga-Zamalloa, Carlos A; Ghosh, Amiya K; Patil, Suresh B et al. (2011) Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies. J Biol Chem 286:28276-86
|
O'Toole, John F; Liu, Yangjian; Davis, Erica E et al. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J Clin Invest 120:791-802
|
Wu, D M; Khanna, H; Atmaca-Sonmez, P et al. (2010) Long-term follow-up of a family with dominant X-linked retinitis pigmentosa. Eye (Lond) 24:764-74
|
Patzke, Sebastian; Redick, Sambra; Warsame, Abdirashid et al. (2010) CSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation. Mol Biol Cell 21:2555-67
|
Hurd, Toby; Zhou, Weibin; Jenkins, Paul et al. (2010) The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. Hum Mol Genet 19:4330-44
|
Patil, Suresh B; Verma, Rakesh; Venkatareddy, Madhusudan et al. (2010) Expression and localization of the ciliary disease protein retinitis pigmentosa GTPase regulator in mammalian kidney. Kidney Int 78:622-3
|
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