ArticleFrontiers in molecular neuroscience2017
Recapitulating X-Linked Juvenile Retinoschisis in Mouse Model by Knock-In Patient-Specific Novel Mutation.
Article in Frontiers in molecular neuroscience, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- The Road towards Gene Therapy for X-Linked Juvenile Retinoschisis: A Systematic Review of Preclinical Gene Therapy in Cell-Based and Rodent Models of XLRS.International journal of molecular sciences · 2024Pooled it
- Unraveling the molecular mechanisms of aluminium chloride-induced Alzheimer's disease.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2026Review
- Correcting a patient-specific Rhodopsin mutation with adenine base editor in a mouse model.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- A Novel AAV Capsid-Mediated RS1 Gene Therapy Restored Retinal Function to Wild-Type Levels in Rs1R213W Mouse Model.Investigative ophthalmology & visual science · 2025Article
- Identifying Multiomic Signatures of X-Linked Retinoschisis-Derived Retinal Organoids and Mice Harboring Patient-Specific Mutation Using Spatiotemporal Single-Cell Transcriptomics.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Article
- Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy.Stem cell research & therapy · 2024Article
- OCT Intensity of the Region between Outer Retina Band 2 and Band 3 as a Biomarker for Retinal Degeneration and Therapy.Bioengineering (Basel, Switzerland) · 2024Article
- Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.Stem cell research & therapy · 2023Review
- Rs1hGene therapy · 2022Article
- Article
- Delivery strategies for CRISPR/Cas genome editing tool for retinal dystrophies: challenges and opportunities.Asian journal of pharmaceutical sciences · 2022Review
- Longitudinal Photoreceptor Phenotype Observation and Therapeutic Evaluation of a Carbonic Anhydrase Inhibitor in a X-Linked Retinoschisis Mouse Model.Frontiers in medicine · 2022Article
- Generation of novel Il2rg-knockout mice with clustered regularly interspaced short palindromic repeats (CRISPR) and Cas9.Experimental animals · 2020Article
- Mouse models of X-linked juvenile retinoschisis have an early onset phenotype, the severity of which varies with genotype.Human molecular genetics · 2019Article
- Ocular phenotypic consequences of a single copy deletion of theMolecular vision · 2019Article
- Engineered FnCas12a with enhanced activity through directional evolution in human cells.The Journal of biological chemistryArticle
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked juvenile retinoschisis (XLRS) is a retinal disease caused by mutations in the gene encoding retinoschisin (RS1), which leads to a significant proportion of visual impairment and blindness. To develop personalized genome editing based gene therapy, knock-in animal disease models that have the exact mutation identified in the patients is extremely crucial, and that the way which genome editing in knock-in animals could be easily transferred to the patients. Here we recruited a family diagnosed with XLRS and identified the causative mutation (
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Registered trials
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