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PLoS Genetics, ISSN 1553-7390, 08/2010, Volume 6, Issue 8, p. e1001075
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, pp. e63205 - e63205
Despite the proposed link between ablation of the CHOP protein and delay of the onset of ER stress-mediated disorders including diabetes, Alzheimer Disease,... 
APOPTOSIS | CELLS | ACETYLATION | MULTIDISCIPLINARY SCIENCES | RHODOPSIN | CHOP | NRL | ENDOPLASMIC-RETICULUM STRESS | RETINITIS-PIGMENTOSA | EXPRESSION | Transcription Factor CHOP - genetics | Retina - metabolism | Basic-Leucine Zipper Transcription Factors - metabolism | Homeodomain Proteins - metabolism | Humans | RNA, Messenger - metabolism | Rhodopsin - metabolism | Retinal Degeneration - metabolism | DNA-Binding Proteins - metabolism | p300-CBP Transcription Factors - genetics | Trans-Activators - genetics | Eye Proteins - genetics | Disease Models, Animal | Electroretinography | Retinal Degeneration - genetics | Tomography, Optical Coherence | RNA, Messenger - genetics | Gene Expression Regulation | Basic-Leucine Zipper Transcription Factors - genetics | Transcription Factor CHOP - deficiency | Transcription Factors - genetics | DNA-Binding Proteins - genetics | Regulatory Factor X Transcription Factors | Homeodomain Proteins - genetics | Mice, Knockout | Transcription Factors - metabolism | p300-CBP Transcription Factors - metabolism | Animals | Rhodopsin - genetics | Eye Proteins - metabolism | Trans-Activators - metabolism | Mice | Retinal Degeneration - pathology | Transcription Factor CHOP - metabolism | Retina - pathology | Histone Deacetylase 1 - metabolism | Heart | Rhodopsin | RNA | Heart enlargement | Cell death | Physiological aspects | Retinal degeneration | Genetic engineering | Alzheimer's disease | Histone deacetylase | Transcription factors | Retinitis pigmentosa | Dark adaptation | Retina | Homology | CCAAT/enhancer-binding protein | Proteins | Signal transduction | Reduction | Protein folding | Rodents | Gangrene | Physiology | Degeneration | Heart diseases | Photoreception | Neurodegenerative diseases | Diabetes mellitus | Transgenic mice | Gene expression | Ablation | Coronary artery disease | Electroretinograms | Optical Coherence Tomography | Photoreceptors | Retinitis | Mutation | Endoplasmic reticulum | CHOP protein | Hypertrophy | Apoptosis | 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
The American Journal of Human Genetics, ISSN 0002-9297, 2011, Volume 88, Issue 2, pp. 201 - 206
Journal Article
Human Mutation, ISSN 1059-7794, 2001, Volume 17, Issue 1, pp. 42 - 51
Journal Article
Neuron, ISSN 0896-6273, 06/2013, Volume 78, Issue 5, pp. 785 - 798
Available methods for differentiating human embryonic stem cells (ESCs) and induced pluripotent cells (iPSCs) into neurons are often cumbersome, slow, and... 
HUMAN ES | RETINOIC ACID | DISEASE | DIRECT CONVERSION | HUMAN FIBROBLASTS | HOMEOSTATIC SYNAPTIC PLASTICITY | DOPAMINERGIC-NEURONS | DIFFERENTIATION | NEUROSCIENCES | HIGHLY EFFICIENT | IPS CELLS | Electric Stimulation | Calcium - metabolism | Humans | Munc18 Proteins - metabolism | Green Fluorescent Proteins - genetics | Excitatory Postsynaptic Potentials - drug effects | Epidermolysis Bullosa Dystrophica - pathology | Transfection | Time Factors | Neurons - physiology | 6-Cyano-7-nitroquinoxaline-2,3-dione - pharmacology | Fibroblasts | Biophysical Phenomena - genetics | Tetrodotoxin - pharmacology | Excitatory Postsynaptic Potentials - genetics | Brain - cytology | Munc18 Proteins - genetics | Gene Expression Regulation - genetics | Synapses - physiology | Pluripotent Stem Cells - physiology | Cells, Cultured | Gene Expression Regulation - physiology | Collagen Type VII - genetics | RNA, Small Interfering - physiology | Sodium Channel Blockers - pharmacology | Excitatory Amino Acid Antagonists - pharmacology | Biophysics | Mutation - genetics | Nerve Tissue Proteins - genetics | Biophysical Phenomena - physiology | Gene Expression Regulation - drug effects | Nerve Tissue Proteins - metabolism | Microscopy, Confocal | Patch-Clamp Techniques | Animals | Rhodopsin - genetics | Mice | Epidermolysis Bullosa Dystrophica - genetics | Medical colleges | Embryonic stem cells | Neurons | Analysis | Studies | Transcription factors | Alzheimers disease | Experiments | Stem cells | Index Medicus
Journal Article
Stem Cell Research and Therapy, ISSN 1757-6512, 10/2018, Volume 9, Issue 1, pp. 279 - 279
BackgroundGeneration of induced photoreceptors holds promise for in vitro modeling of intractable retinal diseases. Retinitis pigmentosa is an inherited... 
disease modeling | phenotypic variation | photoreceptor | truncating mutation | retinitis pigmentosa | genotype-phenotype relationship | nonsense-mediated mRNA decay (NMD) | Redirect differentiation | dermal fibroblast | EYS | MEDICINE, RESEARCH & EXPERIMENTAL | ORTHOLOG | NEUROD | EYES SHUT HOMOLOG | IDENTIFICATION | CELL BIOLOGY | PLURIPOTENT STEM-CELLS | PATHWAY | NONSENSE-MEDIATED DECAY | MESSENGER-RNA DECAY | DIFFERENTIATION | HOMEOBOX GENE | Homeodomain Proteins - metabolism | Humans | Middle Aged | Otx Transcription Factors - metabolism | Male | Cyclic Nucleotide Phosphodiesterases, Type 6 - genetics | Rhodopsin - metabolism | Case-Control Studies | Rod Opsins - genetics | Basic Helix-Loop-Helix Transcription Factors - metabolism | Otx Transcription Factors - genetics | Rod Opsins - metabolism | Trans-Activators - genetics | Female | Cell Differentiation | Eye Proteins - genetics | Arrestin - metabolism | Recoverin - genetics | Fibroblasts - metabolism | Arrestin - genetics | Cyclic Nucleotide Phosphodiesterases, Type 6 - metabolism | Basic Helix-Loop-Helix Transcription Factors - genetics | RNA, Messenger - genetics | Gene Expression Regulation | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Transcription Factors - genetics | Fibroblasts - pathology | RNA Stability | Nerve Tissue Proteins - genetics | Homeodomain Proteins - genetics | Nerve Tissue Proteins - metabolism | Transcription Factors - metabolism | Homozygote | Rhodopsin - genetics | Eye Proteins - metabolism | Heterozygote | Trans-Activators - metabolism | Aged | Mutation | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Retinitis Pigmentosa - pathology | Recoverin - metabolism | Photoreceptors | Genetic aspects | Research | Genetic transcription | Gene mutations | Retinitis pigmentosa | Rhodopsin | Messenger RNA | Analysis | Genes | Genetic research | NeuroD protein | Phenotypes | Disease | mRNA turnover | Phenotypic variations | Retina | Recoverin | Nonsense-mediated mRNA decay | Gene expression | Defects | Polymerase chain reaction | Fibroblasts | Retinal degeneration | Otx2 protein | Retinitis | Skin | Dystrophy | Index Medicus
Journal Article
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2013, Volume 8, Issue 4, pp. e62097 - e62097
Journal Article