Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15
about
Biology and therapy of inherited retinal degenerative disease: insights from mouse modelsAblation of retinal ciliopathy protein RPGR results in altered photoreceptor ciliary compositionAblation of the X-linked retinitis pigmentosa 2 (Rp2) gene in mice results in opsin mislocalization and photoreceptor degenerationMeckelin 3 is necessary for photoreceptor outer segment development in rat Meckel syndromeDeletion of aryl hydrocarbon receptor AHR in mice leads to subretinal accumulation of microglia and RPE atrophy.Renal-retinal ciliopathy gene Sdccag8 regulates DNA damage response signalingSuccessful arrest of photoreceptor and vision loss expands the therapeutic window of retinal gene therapy to later stages of disease.Gene augmentation for X-linked retinitis pigmentosa caused by mutations in RPGRQuantitative autofluorescence as a clinical tool for expedited differential diagnosis of retinal degeneration.A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationDeletion of autophagy inducer RB1CC1 results in degeneration of the retinal pigment epithelium.RPGR: Its role in photoreceptor physiology, human disease, and future therapies.Stability and Safety of an AAV Vector for Treating RPGR-ORF15 X-Linked Retinitis Pigmentosa.RPGR-associated retinal degeneration in human X-linked RP and a murine model.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Loss of human disease protein retinitis pigmentosa GTPase regulator (RPGR) differentially affects rod or cone-enriched retina.Molecular studies of phenotype variation in canine RPGR-XLPRA1.Photoreceptor rescue by an abbreviated human RPGR gene in a murine model of X-linked retinitis pigmentosa.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsThe carboxyl terminal mutational hotspot of the ciliary disease protein RPGRORF15 (retinitis pigmentosa GTPase regulator) is glutamylated in vivoCellular imaging demonstrates genetic mosaicism in heterozygous carriers of an X-linked ciliopathy gene.Ciliopathy-associated protein CEP290 modifies the severity of retinal degeneration due to loss of RPGR.Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.RPGR-associated retinopathy: clinical features, molecular genetics, animal models and therapeutic options.Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration.Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E.Evolutionary Characterization of the Retinitis Pigmentosa GTPase Regulator Gene.A specific phosphorylation regulates the protective role of αA-crystallin in diabetes.
P2860
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P2860
Rd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15
description
2012 nî lūn-bûn
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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
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2012年論文
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2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
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name
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@ast
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@en
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@nl
type
label
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@ast
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@en
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@nl
prefLabel
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@ast
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@en
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@nl
P2093
P2860
P50
P1433
P1476
Rd9 is a naturally occurring m ...... sed by mutations in RPGR-ORF15
@en
P2093
Debra A Thompson
Garrett Grahek
Jacob Nellissery
John R Heckenlively
Mohammad I Othman
Naheed W Khan
Peter Colosi
Suja Hiriyanna
P2860
P304
P356
10.1371/JOURNAL.PONE.0035865
P407
P577
2012-05-01T00:00:00Z