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Gene therapy restores vision in a canine model of childhood blindness
The relationship between the neurosensory photoreceptors and the adjacent retinal pigment epithelium (RPE) controls not only normal retinal function, but also the pathogenesis of hereditary retinal… Expand
A second-generation genetic linkage map of the domestic dog, Canis familiaris.
Purebred strains, pronounced phenotypic variation, and a high incidence of heritable disease make the domestic dog uniquely suited to complement genetic analyses in humans and mice. A comprehensive… Expand
Gene therapy rescues cone function in congenital achromatopsia.
- A. Komáromy, J. Alexander, +7 authors G. Aguirre
- Biology, Medicine
- Human molecular genetics
- 1 July 2010
The successful restoration of visual function with recombinant adeno-associated virus (rAAV)-mediated gene replacement therapy in animals and humans with an inherited disease of the retinal pigment… Expand
An Expressed Fgf4 Retrogene Is Associated with Breed-Defining Chondrodysplasia in Domestic Dogs
Going Retro In a year celebrating Darwin, the question of how new functional genes arise during evolution is of particular interest. Through a multibreed genetic analysis of the domestic dog, Parker… Expand
Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.
The canine disease, X-linked progressive retinal atrophy (XLPRA), is similar to human RP3, an X-linked form of retinitis pigmentosa, and maps to the same region in the X chromosome. Analysis of the… Expand
Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.
- G. Acland, G. Aguirre, +9 authors S. Jacobson
- Biology, Medicine
- Molecular therapy : the journal of the American…
- 1 December 2005
The short- and long-term effects of gene therapy using AAV-mediated RPE65 transfer to canine retinal pigment epithelium were investigated in dogs affected with disease caused by RPE65 deficiency.… Expand
Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3.
Cone degeneration (cd ) is an autosomal recessive canine disease that occurs naturally in the Alaskan Malamute and German Shorthaired Pointer breeds. It is phenotypically similar to human… Expand
Mutations associated with neutropenia in dogs and humans disrupt intracellular transport of neutrophil elastase
Cyclic hematopoiesis is a stem cell disease in which the number of neutrophils and other blood cells oscillates in weekly phases. Autosomal dominant mutations of ELA2, encoding the protease… Expand
Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.
Progressive rod-cone degeneration (prcd) is a late-onset, autosomal recessive photoreceptor degeneration of dogs and a homolog for some forms of human retinitis pigmentosa (RP). Previously, the… Expand
Encapsulated cell-based delivery of CNTF reduces photoreceptor degeneration in animal models of retinitis pigmentosa.
- W. Tao, R. Wen, +12 authors G. Aguirre
- Investigative ophthalmology & visual science
- 1 October 2002
PURPOSE The objective of the present study was to evaluate the therapeutic efficacy of ciliary neurotrophic factor (CNTF) delivered through encapsulated cells directly into the vitreous of the eye in… Expand