Associated Papers
Progression in X-Linked Retinoschisis: A Longitudinal Study Defining Quantitative Biomarkers and Their Implications for Gene Therapy.
Wei X et al.
American Journal of Ophthalmology, 2026
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
Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort.
Chowdhury S et al.
Indian Journal of Ophthalmology, 2024
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
The genetic spectrum and clinical features of X-linked juvenile retinoschisis in Central China.
Liu Z et al.
Ophthalmic Genetics, 2023
X-linked retinoschisis: mutation spectrum and genotype-phenotype relationship in an Italian pediatric cohort.
Fortunato P et al.
Ophthalmic Genetics, 2023
Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population.
Cetin GO et al.
Ophthalmic Genetics, 2022
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
A comprehensive WGS-based pipeline for the identification of new candidate genes in inherited retinal dystrophies.
González-Del Pozo M et al.
Npj Genomic Medicine, 2022
Spontaneous resolution of schitic cavities in XLRS.
Campbell TG et al.
Ophthalmic Genetics, 2021
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Casalino G et al.
Ophthalmology, 2021
Clinical findings and RS1 genotype in 90 Chinese families with X-linked retinoschisis.
Chen C et al.
Molecular Vision, 2020
Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB et al.
The Journal of Cell Biology, 2019
Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.
Kondo H et al.
Human Genome Variation, 2019
Identification of the retinoschisin-binding site on the retinal Na/K-ATPase.
Plössl K et al.
Plos One, 2019
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.
Plössl K et al.
Experimental Eye Research, 2018
Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.
Cukras C et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018
Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D et al.
Plos One, 2018
X-linked juvenile retinoschisis: phenotypic and genetic characterization.
Strupaitė R et al.
International Journal of Ophthalmology, 2018
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
Ramsay EP et al.
Human Molecular Genetics, 2016
Abnormal 8-Hz flicker electroretinograms in carriers of X-linked retinoschisis.
McAnany JJ et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2016
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
Wild-type and missense mutants of retinoschisin co-assemble resulting in either intracellular retention or incorrect assembly of the functionally active octamer.
Gleghorn LJ et al.
The Biochemical Journal, 2009
Relation of response to treatment with dorzolamide in X-linked retinoschisis to the mechanism of functional loss in retinoschisin.
Walia S et al.
American Journal of Ophthalmology, 2009
Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.
Dyka FM et al.
Biochemistry, 2008
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis.
Lesch B et al.
Molecular Vision, 2008
Unusual manifestations of x-linked retinoschisis: clinical profile and diagnostic evaluation.
Shukla D et al.
American Journal of Ophthalmology, 2007
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
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 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
Three novel mutations in the X-linked juvenile retinoschisis (XLRS1) gene in 6 Japanese patients, 1 of whom had Turner's syndrome.
Sato M et al.
Ophthalmic Research, 0