Experts and Doctors on retinitis pigmentosa in Ithaca, New York, United States
Locale: Ithaca, New York, United States
Topic: retinitis pigmentosa
- Zeiss C, Ray K, Acland G, Aguirre G. Mapping of X-linked progressive retinal atrophy (XLPRA), the canine homolog of retinitis pigmentosa 3 (RP3). Hum Mol Genet. 2000;9:531-7 pubmed..In addition, the possibility of another disease locus in the RP3 region is supported. ..
- Kijas J, Cideciyan A, Aleman T, Pianta M, Pearce Kelling S, Miller B, et al. Naturally occurring rhodopsin mutation in the dog causes retinal dysfunction and degeneration mimicking human dominant retinitis pigmentosa. Proc Natl Acad Sci U S A. 2002;99:6328-33 pubmed..The RHO mutant dog also becomes the large animal needed for preclinical trials of therapies for a major subset of human retinopathies. ..
- Zhang Q, Acland G, Wu W, Johnson J, Pearce Kelling S, Tulloch B, et al. Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration. Hum Mol Genet. 2002;11:993-1003 pubmed..The cellular and molecular results in the two canine RPGR exon ORF15 mutations have implications for understanding the phenotypic variability found in human RP3 families that carry similar mutations. ..
- Chow C, Kelsey K, Wolfner M, Clark A. Candidate genetic modifiers of retinitis pigmentosa identified by exploiting natural variation in Drosophila. Hum Mol Genet. 2016;25:651-9 pubmed publisher..This study demonstrates the utility of studying a pathogenic mutation across a wide range of genetic backgrounds. These candidate modifiers provide new avenues of inquiry that may reveal new RP disease mechanisms and therapies. ..