Shirley He

发表

RPGR-ORF15, Which Is Mutated in Retinitis Pigmentosa, Associates with SMC1, SMC3, and Microtubule Transport Proteins*

A. Swaroop, A. Wright, H. Khanna, 2005, Journal of Biological Chemistry.

Anti-retinal pigment epithelium antibodies in acute exudative polymorphous vitelliform maculopathy: a new hypothesis about disease pathogenesis.

S. He, J. Heckenlively, N. Khan, 2009, Archives of ophthalmology.

RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin.

A. Swaroop, U. Wolfrum, A. Lennon, 2005, Human molecular genetics.

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

T. Aleman, A. Cideciyan, S. Schwartz, 2007, Human mutation.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

R. Reinhardt, J. Hellemans, A. Swaroop, 2005, Nature Genetics.

A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration

Gonçalo R. Abecasis, Anand Swaroop, Wei Chen, 2007, Proceedings of the National Academy of Sciences.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

A. Swaroop, H. Khanna, C. Lillo, 2006, Human molecular genetics.

Melanoma-associated retinopathy: a paraneoplastic autoimmune complication.

S. He, J. Heckenlively, T. Jayasundera, 2009, Archives of ophthalmology.

Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies

Hemant Khanna, Anand Swaroop, A. Swaroop, 2008, Vision Research.

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

Shigeo Yoshida, Alfred O Hero, Anand Swaroop, 2004, Human molecular genetics.

Two mouse models for recoverin-associated autoimmune retinopathy

S. He, J. Heckenlively, N. Khan, 2010, Molecular vision.

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*

Jindan Yu, Masayuki Akimoto, Anand Swaroop, 2004, Journal of Biological Chemistry.