Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration
about
Calpain-6 deficiency promotes skeletal muscle development and regenerationCalpain 5 is highly expressed in the central nervous system (CNS), carries dual nuclear localization signals, and is associated with nuclear promyelocytic leukemia protein bodiesDevelopments in Ocular Genetics: 2013 Annual ReviewBestrophin 1 and retinal disease.CAPN5 gene silencing by short hairpin RNA interference.Structural modeling of a novel CAPN5 mutation that causes uveitis and neovascular retinal detachmentCAPN5 mutation in hereditary uveitis: the R243L mutation increases calpain catalytic activity and triggers intraocular inflammation in a mouse modelSecondary glaucoma in CAPN5-associated neovascular inflammatory vitreoretinopathy.Monozygotic twins with CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses.Surgical management of fibrotic encapsulation of the fluocinolone acetonide implant in CAPN5-associated proliferative vitreoretinopathy.Role of calpains in the injury-induced dysfunction and degeneration of the mammalian axon.Functional validation of a human CAPN5 exome variant by lentiviral transduction into mouse retina.The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.Calpain research for drug discovery: challenges and potential.Effect of 8-hydroxyquinoline and derivatives on human neuroblastoma SH-SY5Y cells under high glucose.Small-angle X-ray scattering of calpain-5 reveals a highly open conformation among calpains.Lymphocyte infiltration in CAPN5 autosomal dominant neovascular inflammatory vitreoretinopathy.Two Novel CAPN5 Variants Associated with Mild and Severe Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Phenotypes.Calpain-5 gene expression in the mouse eye and brain.An anti-CAPN5 intracellular antibody acts as an inhibitor of CAPN5-mediated neuronal degeneration.Calpain-2 as a therapeutic target for acute neuronal injury.A novel de novo CAPN5 mutation in a patient with inflammatory vitreoretinopathy, hearing loss, and developmental delay.
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P2860
Calpain-5 mutations cause autoimmune uveitis, retinal neovascularization, and photoreceptor degeneration
description
2012 nî lūn-bûn
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2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年論文
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2012年论文
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name
Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
@en
Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Calpain-5 mutations cause auto ...... and photoreceptor degeneration
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Alexander G Bassuk
Heather T Daggett
Jessica M Skeie
Terry A Braun
Vinit B Mahajan
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P304
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10.1371/JOURNAL.PGEN.1003001
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2012-10-04T00:00:00Z