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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
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 09/2014, Volume 55, Issue 11, pp. 7147 - 7158
Journal Article
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 12/2017, Volume 494, Issue 1-2, pp. 133 - 137
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2000, Volume 26, Issue 3, pp. 270 - 271
Mutation of a receptor tyrosine kinase gene, Mertk, in the Royal College of Surgeons (RCS) rat results in defective phagocytosis of photoreceptor outer... 
EPITHELIUM | C-MER | PROTOONCOGENE | GENETICS & HEREDITY | Sequence Deletion | Frameshift Mutation | Species Specificity | Humans | Middle Aged | Male | Terminator Regions, Genetic - genetics | Mutation, Missense | Polymorphism, Single-Stranded Conformational | Chromosomes, Human, Pair 2 - genetics | Rodent Diseases - genetics | DNA Mutational Analysis | c-Mer Tyrosine Kinase | Cloning, Molecular | Rod Cell Outer Segment - pathology | Adult | Female | Proto-Oncogene Proteins | Codon - genetics | Eye Proteins - genetics | Disease Models, Animal | Receptor Protein-Tyrosine Kinases - deficiency | Rodent Diseases - enzymology | Introns - genetics | RNA Splice Sites - genetics | Retinal Degeneration - genetics | Rats | Retinitis Pigmentosa - genetics | Exons - genetics | Genes, Recessive | Point Mutation | Retinitis Pigmentosa - enzymology | Animals | Rats, Inbred Strains - genetics | Receptor Protein-Tyrosine Kinases - genetics | Consanguinity | Retinal Degeneration - pathology | Retinal Degeneration - enzymology | Retinal Degeneration - veterinary | Phagocytosis | Amino Acid Substitution | Complications and side effects | Care and treatment | Gene mutations | Retinitis pigmentosa | Retinal degeneration | Causes of | Genetic aspects | Research | Identification and classification | Health aspects | chromosome 2 | MERTK gene | Index Medicus
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 253 - 264
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the... 
RHODOPSIN GENE | CHIP-SEQ REVEALS | FLAGELLAR LENGTH | RETINAL DISEASE | TRANSCRIPTIONAL NETWORK | KINASE | MOUSE | GENETICS & HEREDITY | CRX | GENOME BROWSER DATABASE | FAMILY | Genes, Recessive - genetics | Homeodomain Proteins - metabolism | Humans | Middle Aged | Genetic Loci - genetics | Molecular Sequence Data | Male | Young Adult | Adult | Female | Transcription, Genetic | Cilia - enzymology | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Chromosome Mapping | Mutation - genetics | Sequence Analysis, DNA | Regulatory Sequences, Nucleic Acid - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Animals | Rhodopsin - genetics | Pedigree | Trans-Activators - metabolism | Mice | Protein-Serine-Threonine Kinases - chemistry | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Ciliary body | Chromosome mapping | Usage | Retinitis pigmentosa | Physiological aspects | Causes of | Genetic aspects | Nucleotide sequencing | Eye diseases | Mutation | Kinases | Genes | Rodents | Polymorphism | Animal models | Transcription factors | retinal degeneration | Nonsense mutation | Amino acids | Data processing | MAP kinase | Retina | Missense mutation | Photoreceptors | Gene mapping | Cilia | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2016, Volume 11, Issue 11, pp. e0167102 - e0167102
Retinitis Pigmentosa (RP) is one of the most common forms of inherited visual loss with the initial degeneration of rod photoreceptors, followed by a... 
RETINAL DEGENERATION | MATRIX METALLOPROTEINASES | MULTIDISCIPLINARY SCIENCES | TISSUE INHIBITORS | MEDIATED GENE-TRANSFER | EXTRACELLULAR-MATRIX | CILIARY NEUROTROPHIC FACTOR | PHOTORECEPTOR DEGENERATION | UP-REGULATION | RAT MODEL | CELL-DEATH | Rats, Transgenic | Retinal Degeneration - drug therapy | Retinitis Pigmentosa - drug therapy | Cells, Cultured | Rats | Sulfones - pharmacology | Rats, Sprague-Dawley | Protease Inhibitors - pharmacology | Retinitis Pigmentosa - enzymology | Animals | Heterocyclic Compounds, 1-Ring - pharmacology | Retinal Rod Photoreceptor Cells - cytology | Retinal Rod Photoreceptor Cells - enzymology | Female | Matrix Metalloproteinase 2 - chemistry | Matrix Metalloproteinase 9 - chemistry | Retinal Degeneration - enzymology | Retinal Rod Photoreceptor Cells - drug effects | Retinitis Pigmentosa - pathology | Disease Models, Animal | Rhodopsin | Genetic aspects | Models | Research | Gene expression | Retinitis pigmentosa | Neurosciences | Traumatic brain injury | Laboratories | Retina | Matrix metalloproteinase | Rodents | Extracellular matrix | Degeneration | Metalloproteinase | Photoreception | Cell survival | Preservation | Mortality | Feasibility studies | Clustering | Survival | Gelatinase B | Gelatinase A | Medicine | Brain research | Excitotoxicity | Retinal degeneration | Photoreceptors | Death | Retinitis | Apoptosis | Index Medicus
Journal Article