Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
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X-linked retinoschisis: an updateThe dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteinsA comprehensive review of retinal gene therapyStructure-function correlation of the human central retinaThe Diversity of Spine Synapses in AnimalsBiology and therapy of inherited retinal degenerative disease: insights from mouse modelsDefective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisisEffects of pathological mutations on the stability of a conserved amino acid triad in retinoschisinRetinoschisin (RS1), the protein encoded by the X-linked retinoschisis gene, is anchored to the surface of retinal photoreceptor and bipolar cells through its interactions with a Na/K ATPase-SARM1 complexWild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.Retinal Thickness Normative Data in Wild-Type Mice Using Customized Miniature SD-OCT.Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.A carboxy-terminal affinity tag for the purification and mass spectrometric characterization of integral membrane proteinsThe effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisisRetinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain OCT.Regulation of retinoschisin secretion in Weri-Rb1 cells by the F-actin and microtubule cytoskeleton.Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.In vivo imaging reveals novel aspects of retinal disease progression in Rs1h(-/Y) mice but no therapeutic effect of carbonic anhydrase inhibition.Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked RetinoschisisMacular telangiectasia type 2.The genetics of inherited macular dystrophies.X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype.Identification and characterization of two mature isoforms of retinoschisin in murine retinaCog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked RetinoschisisX-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.Cyclic intensive light exposure induces retinal lesions similar to age-related macular degeneration in APPswe/PS1 bigenic miceSynaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer.Biology of retinoschisinA novel locus on chromosome 1 underlies the evolution of a melanic plumage polymorphism in a wild songbirdGenetic modification of the schisis phenotype in a mouse model of X-linked retinoschisisCircadian regulation of retinoschisin in the chick retinaPreclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function.Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retinaSynaptic pathology in retinoschisis knockout (Rs1-/y) mouse retina and modification by rAAV-Rs1 gene deliveryAn ex vivo gene therapy approach in X-linked retinoschisis.Retinal morphological changes of patients with X-linked retinoschisis evaluated by Fourier-domain optical coherence tomography.Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography.Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
P2860
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P2860
Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
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2002 nî lūn-bûn
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2002 թուականի Ապրիլին հրատարակուած գիտական յօդուած
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2002 թվականի ապրիլին հրատարակված գիտական հոդված
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年论文
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name
Inactivation of the murine X-l ...... ization and synaptic structure
@ast
Inactivation of the murine X-l ...... ization and synaptic structure
@en
Inactivation of the murine X-l ...... ization and synaptic structure
@nl
type
label
Inactivation of the murine X-l ...... ization and synaptic structure
@ast
Inactivation of the murine X-l ...... ization and synaptic structure
@en
Inactivation of the murine X-l ...... ization and synaptic structure
@nl
prefLabel
Inactivation of the murine X-l ...... ization and synaptic structure
@ast
Inactivation of the murine X-l ...... ization and synaptic structure
@en
Inactivation of the murine X-l ...... ization and synaptic structure
@nl
P2093
P2860
P3181
P356
P1476
Inactivation of the murine X-l ...... ization and synaptic structure
@en
P2093
Andrea Gehrig
Christoph Friedburg
Gesine B Jaissle
Heinrich Schrewe
Karen L White
Laurie L Molday
Mathias W Seeliger
Robert S Molday
P2860
P304
P3181
P356
10.1073/PNAS.092528599
P407
P577
2002-04-01T00:00:00Z