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Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 13387 - 8
Age-related macular degeneration (AMD) is a common, blinding disease associated with increased complement system activity. Eyes with AMD show elevated... 
RECOVERY | ACTIVATION | MEMBRANE ATTACK COMPLEX | TARGETED INHIBITOR | PATHWAY | BEVACIZUMAB | MULTIDISCIPLINARY SCIENCES | DISEASE | ECONAZOLE | MACULAR DEGENERATION | RANIBIZUMAB | Macular degeneration | Cell death | Imidazole | Lysis | Membrane attack complex | Degeneration | Miconazole | Cell surface | Econazole | Age | Endothelial cells | Apoptosis
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2015, Volume 133, Issue 5, p. 598
  Age-related macular degeneration is a very common condition that is caused by a complex interplay of genetic and environmental factors. It is likely that, in... 
Macular degeneration | Genotype & phenotype | Clinical trials | Genetic testing | Ophthalmology | Clinical outcomes
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2016, Volume 134, Issue 5, p. 580
  Stargardt disease is a phenotypically diverse macular dystrophy caused by the autosomal recessive inheritance of mutations in ABCA4. Pseudodominant... 
Genotype & phenotype | Genetic disorders | Ophthalmology | Mutation | Genetic testing | Muscular dystrophy | Drug use
Journal Article
GENES, ISSN 2073-4425, 04/2019, Volume 10, Issue 4, p. 278
Enhanced S-cone syndrome (ESCS) is caused by recessive mutations in the photoreceptor cell transcription factor NR2E3. Loss of NR2E3 is characterized by... 
TRANSCRIPTION | MOUSE | induced pluripotent stem cell (iPSC) | NR2E3 | NUCLEAR RECEPTOR NR2E3 | DEGENERATION | PLURIPOTENT STEM-CELLS | GENE | clustered regularly interspaced short palindromic repeats (CRISPR) | Enhanced S-Cone Syndrome (ESCS) | MUTATION | GENETICS & HEREDITY | homology-directed repair (HDR)
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 9/2008, Volume 105, Issue 39, pp. 15112 - 15117
Journal Article
Proceedings of the National Academy of Sciences, ISSN 0027-8424, 08/2011, Volume 108, Issue 34, pp. E569 - E576
Retinitis pigmentosa (RP) is a genetically heterogeneous heritable disease characterized by apoptotic death of photoreceptor cells. We used exome sequencing to... 
Retinal degeneration | Photoreceptor differentiation | Disease modeling | Next generation sequencing | retinal degeneration | next generation sequencing | PROTEIN-KINASE | MULTIDISCIPLINARY SCIENCES | disease modeling | ABCR | DISCOVERY | DEGENERATION | ALIGNMENT | DATABASE | MUTATIONS | photoreceptor differentiation | STARGARDT-DISEASE | Humans | Molecular Sequence Data | Jews - genetics | Point Mutation - genetics | Retinal Cone Photoreceptor Cells - enzymology | Retinitis Pigmentosa - complications | Isoenzymes - metabolism | Retinal Cone Photoreceptor Cells - pathology | Retinal Rod Photoreceptor Cells - enzymology | Cell Differentiation | Alu Elements - genetics | Genealogy and Heraldry | Induced Pluripotent Stem Cells - metabolism | Biomarkers - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Organ Specificity | Sequence Analysis, DNA | Mutagenesis, Insertional - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Protein-Serine-Threonine Kinases - chemistry | Retinal Degeneration - enzymology | Retinal Rod Photoreceptor Cells - pathology | Retinal Degeneration - complications | Eye diseases | Mutation | Kinases | Stem cells | Apoptosis | Immunohistochemistry | Alternative splicing | Transcription | Exons | Retinitis pigmentosa | Insertion | Retina | Pathogenicity | Axons | Cones | Donors | Photoreceptors | Skin | Cell body | Index Medicus | Biological Sciences | PNAS Plus
Journal Article
Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 05/2015, Volume 133, Issue 5, pp. 598 - 600
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2011, Volume 121, Issue 9, pp. 3542 - 3553
Journal Article