ArticleHuman mutation2010
Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
Article in Human mutation, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 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
- Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.Molecular therapy : the journal of the American Society of Gene Therapy · 2018Trial
- X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family.Scientific reports · 2016Trial
- Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families.BMC ophthalmology · 2026Article
- Intravitreal adenine base editing of RS1 improves vision in a preclinical mouse model of retinoschisis.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.Scientific reports · 2025Article
- Early Developmental Characteristics and Features of a Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis.International journal of molecular sciences · 2024Article
- Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.Investigative ophthalmology & visual science · 2024Article
- Long-term functional and structural outcomes in X-linked retinoschisis: implications for clinical trials.Frontiers in medicine · 2023Article
- Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.International journal of molecular sciences · 2022Article
- RS1 gene is a novel prognostic biomarker for lung adenocarcinoma.Thoracic cancer · 2022Article
- A novel mutation in RS1 and clinical manifestations in a Chinese twin family with congenital retinoschisis.Frontiers in genetics · 2022Article
- Whole-exome sequencing identifies anExperimental and therapeutic medicine · 2021Article
- Investigation of Correlations Between Optical Coherence Tomography Biomarkers and Visual Acuity in X-Linked Retinoschisis.Frontiers in medicine · 2021Article
- Treatment-Emergent Adverse Events in Gene Therapy Trials for Inherited Retinal Diseases: A Narrative Review.Ophthalmology and therapy · 2020Review
- Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.The Journal of cell biology · 2019Article
- Lipoid proteinosis: a first report of mutation Val10Gly in the signal peptide of the ECM1 gene.Postepy dermatologii i alergologii · 2018Article
- Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?PloS one · 2018Article
- Proteomic profiling of human intraschisis cavity fluid.Clinical proteomics · 2017Article
- In silico Mapping of Protein Unfolding Mutations for Inherited Disease.Scientific reports · 2016Article
Corrections and comments
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Authors and funding
9 authors at 7 institutions in 3 countries.
Funding
Abstract
Retinoschisin (RS1) is a cell-surface adhesion molecule expressed by photoreceptor and bipolar cells of the retina. The 24-kDa protein encodes two conserved sequence motifs: the initial signal sequence targets the protein for secretion while the larger discoidin domain is implicated in cell adhesion. RS1 helps to maintain the structural organization of the retinal cell layers and promotes visual signal transduction. RS1 gene mutations cause X-linked retinoschisis disease (XLRS) in males, characterized by early-onset central vision loss. We analyzed the biochemical consequences of several RS1 signal-sequence mutants (c.1A>T, c.35T>A, c.38T>C, and c.52G>A) found in our subjects. Expression analysis in COS-7 cells demonstrates that these mutations affect RS1 biosynthesis and result in an RS1 null phenotype by several different mechanisms. By comparison, discoidin-domain mutations generally lead to nonfunctional conformational variants that remain trapped inside the cell. XLRS disease has a broad heterogeneity in general, but subjects with the RS1 null-protein signal-sequence mutations are on the more severe end of the clinical phenotype. Results from the signal-sequence mutants are discussed in the context of the discoidin-domain mutations, clinical phenotypes, genotype-phenotype correlations, and implications for RS1 gene replacement therapy.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.