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Nature Communications, ISSN 2041-1723, 03/2017, Volume 8, Issue 1, pp. 14716 - 14716
In retinitis pigmentosa, loss of cone photoreceptors leads to blindness, and preservation of cone function is a major therapeutic goal. However, cone loss is... 
STAPHYLOCOCCUS-AUREUS CAS9 | CONE VIABILITY FACTOR | ROD PHOTORECEPTORS | MULTIDISCIPLINARY SCIENCES | IN-VIVO | MUSCULAR-DYSTROPHY | GENE-THERAPY | MOUSE RETINA | TRANSCRIPTION FACTOR NRL | RAT MODEL | DOMINANT RETINITIS-PIGMENTOSA | Index Medicus
Journal Article
Human Gene Therapy, ISSN 1043-0342, 05/2016, Volume 27, Issue 5, pp. 376 - 389
Journal Article
Journal Article
Cell Reports, ISSN 2211-1247, 10/2018, Volume 25, Issue 3, pp. 611 - 623.e6
Mutations in cause ciliogenesis defects, leading to diverse clinical phenotypes, including Leber congenital amaurosis (LCA). Gene therapy for -associated... 
photoreceptors | retinal degeneration | AAV | gene therapy | LCA | CEP290 | ciliopathy | PLURIPOTENT STEM-CELLS | JOUBERT-SYNDROME | LEBER CONGENITAL AMAUROSIS | GENE REPLACEMENT THERAPY | MOUSE MODEL | CILIOPATHY | MUTATIONS | PHOTORECEPTOR DEGENERATION | CENTROSOMAL PROTEIN | RPGR | CELL BIOLOGY
Journal Article
PLoS ONE, ISSN 1932-6203, 05/2012, Volume 7, Issue 5, pp. e35865 - e35865
Animal models of human disease are an invaluable component of studies aimed at understanding disease pathogenesis and therapeutic possibilities. Mutations in... 
NEGATIVE RESPONSE | GENE | ONSET RETINAL DEGENERATION | B-WAVE | MULTIDISCIPLINARY SCIENCES | A-WAVE | RPGR EXON ORF15 | GTPASE REGULATOR RPGR | DISEASE EXPRESSION | PHOTORECEPTOR DEGENERATION | CONE OPSIN MISLOCALIZATION | Immunohistochemistry | Retina - metabolism | Humans | Molecular Sequence Data | Immunoblotting | Male | Mice, 129 Strain | Rhodopsin - metabolism | Retinal Degeneration - metabolism | Mice, Mutant Strains | Base Sequence | Female | Eye Proteins - genetics | Disease Models, Animal | Electroretinography | Amino Acid Sequence | Retinal Degeneration - genetics | Mice, Inbred C57BL | Retina - physiopathology | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Exons - genetics | Reverse Transcriptase Polymerase Chain Reaction | Sequence Homology, Nucleic Acid | Sequence Homology, Amino Acid | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Eye Proteins - metabolism | Mice | Mutation | Retinal Degeneration - pathology | Retina - pathology | Retinitis Pigmentosa - pathology | Medicine, Experimental | Medical research | Rhodopsin | Genetic aspects | Retinitis pigmentosa | Analysis | Neurosciences | Animal models | Disease | Laboratories | Physicians | Pathogenesis | Diagnostic tests | Neurobiology | Transducin | Retina | Males | Medical schools | Genotype & phenotype | Histopathology | Neurodegeneration | Degeneration | Congenital diseases | Stop codon | Electroretinograms | Thickness | Retinal degeneration | Photoreceptors | Gene loci | Retinitis | Dystrophy | Guanosinetriphosphatase | Index Medicus
Journal Article
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2016, Volume 24, pp. S105 - S106
Journal Article