Associated Papers
Intravitreal adenine base editing of RS1 improves vision in a preclinical mouse model of retinoschisis.
Jo DH et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.
Lee SJ et al.
Ophthalmology. Retina, 2025
A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis.
Järvinen MA et al.
Acta Ophthalmologica, 2025
Generation of human induced pluripotent stem cell lines from three different male XLRS patients carrying RS1 gene mutation.
Kim SY et al.
Stem Cell Research, 2025
Identifying Multiomic Signatures of X-Linked Retinoschisis-Derived Retinal Organoids and Mice Harboring Patient-Specific Mutation Using Spatiotemporal Single-Cell Transcriptomics.
Chien Y et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025
Photoreceptor deficits appear at eye opening in Rs1 mutant mouse models of X-linked retinoschisis.
Tarchick MJ et al.
Experimental Eye Research, 2024
Do the retinal abnormalities in X-linked juvenile retinoschisis include impaired phototransduction?
Ambrosio L et al.
Experimental Eye Research, 2023
Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.
Heymann JB et al.
Progress in Retinal and Eye Research, 2023
Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S et al.
The British Journal of Ophthalmology, 2023
XLRS Rat with Rs1-/Y Exon-1-Del Shows Failure of Early Postnatal Outer Retina Development.
Ye EA et al.
Genes, 2022
Rs1h-/y exon 3-del rat model of X-linked retinoschisis with early onset and rapid phenotype is rescued by RS1 supplementation.
Zeng Y et al.
Gene Therapy, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.
Kousal B et al.
Genes, 2021
Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.
Gao FJ et al.
Acta Ophthalmologica, 2021
Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.
Liu Y et al.
Human Molecular Genetics, 2019
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB et al.
The Journal of Cell Biology, 2019
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D et al.
Plos One, 2018
Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.
Hu QR et al.
Scientific Reports, 2017
Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
Sergeev YV et al.
Human Molecular Genetics, 2013
A phenotype-genotype correlation study of X-linked retinoschisis.
Vincent A et al.
Ophthalmology, 2013
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Molday RS et al.
Progress in Retinal and Eye Research, 2012
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Investigative Ophthalmology & Visual Science, 2009
Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.
Riveiro-Alvarez R et al.
Human Genetics, 2008
ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.
Renner AB et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2008
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Lesch B et al.
Molecular Vision, 2008
Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.
Dyka FM et al.
Investigative Ophthalmology & Visual Science, 2007
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation.
Wang T et al.
The British Journal of Ophthalmology, 2006
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro-Alvarez R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 2005
Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.
Riveiro R et al.
Human Genetics, 2005
X-linked retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.
Pimenides D et al.
Journal of Medical Genetics, 2005
Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.
Wu WW et al.
The Journal of Biological Chemistry, 2003
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Assessment of RS1 in X-linked juvenile retinoschisis and sporadic senile retinoschisis.
Gehrig A et al.
Clinical Genetics, 1999
Mutations of the XLRS1 gene cause abnormalities of photoreceptor as well as inner retinal responses of the ERG.
Bradshaw K et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 1999
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
Unknown Author
Human Molecular Genetics, 1998
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.
Tanimoto N et al.
Japanese Journal of Ophthalmology, 0