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Journal of Biological Chemistry, ISSN 0021-9258, 04/2013, Volume 288, Issue 16, pp. 11395 - 11406
Interphotoreceptor retinoid-binding protein (IRBP) secreted by photoreceptors plays a pivotal role in photoreceptor survival and function. Recently, a D1080N... 
TRANSMEMBRANE CONDUCTANCE REGULATOR | CARBONIC-ANHYDRASE-IV | VISUAL CYCLE | DISULFIDE-ISOMERASE | MESSENGER-RNA | ER-STRESS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENE-EXPRESSION | ENDOPLASMIC-RETICULUM | RETINOID-BINDING PROTEIN | PHYSIOLOGICALLY RELEVANT CARRIER | Humans | Endoplasmic Reticulum - metabolism | Mutation, Missense | Retinol-Binding Proteins - secretion | Heat-Shock Proteins - genetics | Cell Nucleus - metabolism | Retinol-Binding Proteins - genetics | CCAAT-Enhancer-Binding Proteins - genetics | Eye Proteins - genetics | Active Transport, Cell Nucleus - genetics | CCAAT-Enhancer-Binding Proteins - metabolism | Cell Line | Endoplasmic Reticulum - genetics | Heat-Shock Proteins - metabolism | Activating Transcription Factor 4 - genetics | Retinitis Pigmentosa - genetics | Retinitis Pigmentosa - metabolism | Unfolded Protein Response | Protein Folding | Protein Disulfide-Isomerases - genetics | Animals | Protein Disulfide-Isomerases - biosynthesis | Activating Transcription Factor 4 - metabolism | Cell Nucleus - genetics | Golgi Apparatus - metabolism | Mice | Eye Proteins - secretion | Retinitis Pigmentosa - pathology | Amino Acid Substitution | Golgi Apparatus - genetics | Molecular Bases of Disease | Protein Misfolding | Retinal Degeneration | ER Stress | Extracellular Matrix | Photoreceptors | Retinoid-binding Protein
Journal Article
by Koev, K
Acta Ophthalmologica, ISSN 1755-375X, 10/2015, Volume 93, Issue S255, p. n/a
Purpose Retinitis pigmentosa (RP) is a group of rare, genetic disorders that involve a breakdown and loss of cells in the retina. The objective of this study... 
Care and treatment | Retinitis pigmentosa | Lasers in surgery | Fluorescein | Lasers in medicine
Journal Article
Genes, ISSN 2073-4425, 10/2019, Volume 10, Issue 10, p. 792
This work describes the application of NGS for molecular diagnosis of RP in a family with a history of severe hypovision. In particular, the proband received a... 
retinitis pigmentosa | d2 loop domain | ngs panel | prph2 | genotype-phenotype correlation
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 12/2009, Volume 50, Issue 12, pp. 5927 - 5933
Journal Article
Journal Article
Value in Health : The Journal of the International Society for Pharmacoeconomics and Outcomes Research, ISSN 1098-3015, 10/2017, Volume 20, Issue 9, p. A761
OBJECTIVES: RLBP1 RP is a rare autosomal recessive form of retinitis pigmentosa (RP), characterized by night blindness, prolonged dark adaptation, constricted... 
Qualitative research | Physical ability | Activities of daily living | Functional impairment | Retinitis pigmentosa | Brightness | Cognitive ability | Retina | Night blindness | Coverage | Nyctalopia | Social functioning | Clinical outcomes | Debriefing | Quality of life | Emotional well being | Psychological functioning | Lighting | Blindness | Questionnaires | Eye diseases | Retinitis | Elicitation | Adaptation
Journal Article
Progress in Biomedical Optics and Imaging - Proceedings of SPIE, ISSN 1605-7422, 2013, Volume 8591
Conference Proceeding
Reference
PLoS ONE, ISSN 1932-6203, 11/2016, Volume 11, Issue 11, p. e0165197
Retinitis pigmentosa (RP) is a degenerative disease leading to photoreceptor cell loss. Mouse models of RP, such as the rd10 mouse (B6.CXBl-Pde6brd10/J), have... 
PHOTORECEPTOR CELL-DEATH | IN-VITRO | ACTIVATION | 18 KDA TSPO | MULTIDISCIPLINARY SCIENCES | RECEPTOR | MICE | RD10 MOUSE MODEL | INFLAMMATORY RESPONSE | RETINITIS-PIGMENTOSA | BRAIN | Cell Line | Microglia - metabolism | Retina - metabolism | Chemokine CX3CL1 - metabolism | Mice, Inbred C57BL | Receptors, Chemokine - metabolism | Retinitis Pigmentosa - metabolism | Male | Retinal Degeneration - metabolism | Neuroprotective Agents - metabolism | Animals | Progesterone - metabolism | Central Nervous System Stimulants - metabolism | Female | Signal Transduction - physiology | Mice | Norgestrel - metabolism | Photoreceptor Cells, Vertebrate - metabolism | CX3C Chemokine Receptor 1 | Disease Models, Animal | Physiological aspects | Retinal degeneration | Norgestrel | Progesterone | Cell death | Cell culture | Neuroprotection | Neurosciences | Animal models | Sucrose | Disease | Laboratories | Retinitis pigmentosa | Weaning | Retina | CX3CR1 protein | Activation | Biochemistry | Drug development | Kinases | Neurotoxicity | Cell activation | Moisture content | Neurodegeneration | Rodents | Fractalkine | Degeneration | Growth factors | Neurochemistry | Cultures | Hazards | Inflammation | Gene expression | Ribonucleic acid--RNA | Microglia | Studies | Signaling | Diet | Photoreceptors | Retinitis | Cell migration | Apoptosis | RNA | Ribonucleic acid
Journal Article