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Nrl is required for rod photoreceptor development
The protein neural retina leucine zipper (Nrl) is a basic motif–leucine zipper transcription factor that is preferentially expressed in rod photoreceptors. It acts synergistically with Crx toExpand
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Overexpression of optineurin E50K disrupts Rab8 interaction and leads to a progressive retinal degeneration in mice
Glaucoma is one of the leading causes of bilateral blindness affecting nearly 8 million people worldwide. Glaucoma is characterized by a progressive loss of retinal ganglion cells (RGCs) and is oftenExpand
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Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Occult macular dystrophy (OMD) is an inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Typical OMD is characterized by a centralExpand
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Zebrafish Olfactomedin 1 Regulates Retinal Axon Elongation In Vivo and Is a Modulator of Wnt Signaling Pathway
Olfactomedin 1 (Olfm1) is a secreted glycoprotein belonging to a family of olfactomedin domain-containing proteins. It is involved in the regulation of neural crest production in chicken and promotesExpand
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RS-1 Gene Delivery to an Adult Rs1h Knockout Mouse Model Restores ERG b-Wave with Reversal of the Electronegative Waveform of X-Linked Retinoschisis.
PURPOSE To create and evaluate a mouse model of human X-linked juvenile retinoschisis (XLRS) and then investigate whether supplementing with the retinoschisin protein by gene delivery can reverse theExpand
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A retinal neuronal developmental wave of retinoschisin expression begins in ganglion cells during layer formation.
PURPOSE Mutations in the retinoschisin gene, RS-1, cause juvenile X-linked retinoschisis (XLRS), a dystrophy characterized by delamination of the inner retinal layers, leading to visual impairment.Expand
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Retinoschisin gene therapy and natural history in the Rs1h-KO mouse: long-term rescue from retinal degeneration.
PURPOSE The authors characterized the natural history of a retinoschisin gene knockout (Rs1h-KO) mouse model and evaluated the long-term effects of retinal rescue after AAV(2/2)-CMV-Rs1h geneExpand
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Mutant WDR36 directly affects axon growth of retinal ganglion cells leading to progressive retinal degeneration in mice
Primary open-angle glaucoma (POAG) is one of the three principal subtypes of glaucoma and among the leading cause of blindness worldwide. POAG is defined by cell death of the retinal ganglion cellsExpand
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Retinoschisin is a peripheral membrane protein with affinity for anionic phospholipids and affected by divalent cations.
PURPOSE Retinoschisin (RS) is a retina-specific, secreted protein implicated in X-linked juvenile retinoschisis and essential for the structural and functional integrity of the retina. ThisExpand
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Ames Waltzer deaf mice have reduced electroretinogram amplitudes and complex alternative splicing of Pcdh15 transcripts.
PURPOSE Mutations of PCDH15, the gene encoding protocadherin 15, cause either nonsyndromic deafness DFNB23 or Usher syndrome type 1F (USH1F) in humans and deafness with balance problems in AmesExpand
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