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Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structureA comprehensive review of retinal gene therapyAssessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisisNovel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence changeRetinoschisin (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 complexMolecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.The effects of transient retinal detachment on cavity size and glial and neural remodeling in a mouse model of X-linked retinoschisisProteomic profiling of human intraschisis cavity fluidImproved genetic mapping of X linked retinoschisis.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.R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.Long-term 12 year follow-up of X-linked congenital retinoschisis.Tyrosinase is the modifier of retinoschisis in mice.Bilateral foveal retinoschisis accompanying unilateral peripheral retinoschisis.Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits.Clinical characteristics and current therapies for inherited retinal degenerationsThe genetics of inherited macular dystrophies.Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.Rapid resolution of retinoschisis with acetazolamideClinical features of X linked juvenile retinoschisis associated with new mutations in the XLRS1 gene in Italian families.Multifocal ERG findings in carriers of X-linked retinoschisis.X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.Case report of an atypical early onset X-linked retinoschisis in monozygotic twins.Genetic modification of the schisis phenotype in a mouse model of X-linked retinoschisisX-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin.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.Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisisNovel phenotypic and genotypic findings in X-linked retinoschisis.Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.Intravitreal delivery of AAV8 retinoschisin results in cell type-specific gene expression and retinal rescue in the Rs1-KO mouse.Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study.Genetic modifiers and oligogenic inheritance.Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.Retinal Gene Therapy: Surgical Vector Delivery in the Translation to Clinical Trials.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on July 1995
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
X linked retinoschisis.
@en
X linked retinoschisis.
@nl
type
label
X linked retinoschisis.
@en
X linked retinoschisis.
@nl
prefLabel
X linked retinoschisis.
@en
X linked retinoschisis.
@nl
P2093
P2860
P356
P1476
X linked retinoschisis.
@en
P2093
P2860
P304
P356
10.1136/BJO.79.7.697
P407
P577
1995-07-01T00:00:00Z