| Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India. | Identification and molecular characterization of two recurrent missense mutations in the RS1 gene in two families with X-linked retinoschisis from North India.
Chatterjee S, Gupta S, Kirola L, Chandra A, Mukherjee A, Mutsuddi M. | 09/23/2023 |
| Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes. | Vitreous Hemorrhage in Pediatric Patients With X-Linked Retinoschisis: Characteristics and Outcomes.
da Cruz NFS, Sengillo JD, Al-Khersan H, Negron CI, Felder MB, Patel NA, Berrocal AM. | 09/20/2023 |
| Advances in understanding the molecular structure of retinoschisin while questions remain of biological function. | Advances in understanding the molecular structure of retinoschisin while questions remain of biological function.
Heymann JB, Vijayasarathy C, Fariss RN, Sieving PA., Free PMC Article | 07/10/2023 |
| Clinical and genetic features of retinoschisis in 120 families with RS1 mutations. | Clinical and genetic features of retinoschisis in 120 families with RS1 mutations.
Xiao S, Sun W, Xiao X, Li S, Luo H, Jia X, Ouyang J, Li X, Wang Y, Jiang Y, Wang P, Zhang Q. | 02/23/2023 |
| Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors. | Targeted Expression of Retinoschisin by Retinal Bipolar Cells in XLRS Promotes Resolution of Retinoschisis Cysts Sans RS1 From Photoreceptors.
Vijayasarathy C, Zeng Y, Marangoni D, Dong L, Pan ZH, Simpson EM, Fariss RN, Sieving PA., Free PMC Article | 01/14/2023 |
| [Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters]. | [Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters].
Luo P, Liu Q, Xing X, Liu Q, Luo Y. | 05/7/2022 |
| X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients. | X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
Hahn LC, van Schooneveld MJ, Wesseling NL, Florijn RJ, Ten Brink JB, Lissenberg-Witte BI, Strubbe I, Meester-Smoor MA, Thiadens AA, Diederen RM, van Cauwenbergh C, de Zaeytijd J, Walraedt S, de Baere E, Klaver CCW, Ossewaarde-van Norel J, van den Born LI, Hoyng CB, van Genderen MM, Sieving PA, Leroy BP, Bergen AA, Boon CJF. | 02/19/2022 |
| Spontaneous resolution of schitic cavities in XLRS. | Spontaneous resolution of schitic cavities in XLRS.
Campbell TG, Elder J, Ruddle J. | 02/5/2022 |
| X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation. | X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation.
Smith LM, Cernichiaro-Espinosa LA, McKeown CA, Tekin M, Lam BL, Chiang J, Russell JF, Berrocal AM. | 03/13/2021 |
| Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene. | Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene.
Mao S, Ding C, Zhou Y, Jing Y, Chen J, Guo Y, Liu J, Cui Z, Yan X, Gu J, Wang Y, Chen J, Tang S. | 01/23/2021 |
| Mutation in the RS1 gene is associated with X-linked retinoschisis. | Overlapping retinal phenotypes in a consanguineous family harboring mutations in CRB1 and RS1.
Khan AO, El-Ghrably IA. | 04/4/2020 |
| These observations suggest that branched networks of RS1 may play a stabilizing role in maintaining the integrity of the retina. | Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.
Heymann JB, Vijayasarathy C, Huang RK, Dearborn AD, Sieving PA, Steven AC., Free PMC Article | 02/29/2020 |
| Full-field electroretinography recordings showed extinguished rod and cone responses. Diagnostic-genetic testing revealed a hemizygous missense mutation in the RS1 gene (c.305G > A; p.Arg102Gln) was identified. | A case of X-linked retinoschisis with atypical fundus appearance.
Nasser F, Kohl S, Kuehlewein L, Wissinger B, Obermaier CD, Kurtenbach A, Zrenner E. | 08/31/2019 |
| A novel RS1 (Xp22.2) mutation was detected (413C > A) resulting in a Thr138Asn substitution in an Irish pedigree of X-linked Retinoschisis. Protein modelling demonstrated a change in higher order protein folding that is likely pathogenic. | Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant.
Stephenson K, Dockery A, Wynne N, Carrigan M, Kenna P, Jane Farrar G, Keegan D., Free PMC Article | 05/25/2019 |
| The central foveal thickness varies during daytime hours in patients with XLRS. This finding may explain the inconsistent and heterogeneous responses to treatment with CAIs and necessitate standardization of measurement times in treatment trials for XLRS as well as in the routine ophthalmic evaluation of these patients. | Diurnal variations of foveoschisis by optical coherence tomography in patients with RS1 X-linked juvenile retinoschisis.
Abalem MF, Musch DC, Birch DG, Pennesi ME, Heckenlively JR, Jayasundera T., Free PMC Article | 03/30/2019 |
| molecular detail such as the precise localization of mutant protein in the cell as well as its ability to assemble into a functionally active oligomer might largely influence disease severity among XLRS patients | Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?
Sudha D, Neriyanuri S, Sachidanandam R, Natarajan SN, Gandra M, Tharigopala A, Sivashanmugam M, Alameen M, Vetrivel U, Gopal L, Khetan V, Raman R, Sen P, Chidambaram S, Arunachalam JP., Free PMC Article | 12/1/2018 |
| These results establish that extracellular delivery of RS1 rescues the structural and functional deficits in the Rs1h knockout mouse model and that this ex vivo gene therapy approach can inhibit progression of disease. | An ex vivo gene therapy approach in X-linked retinoschisis.
Bashar AE, Metcalfe AL, Viringipurampeer IA, Yanai A, Gregory-Evans CY, Gregory-Evans K., Free PMC Article | 01/13/2018 |
| Taken together, RS1 mutation was found to segregate with retinoschisis phenotype while none of the other identified variations were co-segregating with the systemic defects. Hereby, we infer that the multisystemic defects harbored by the patient are a rare coexistence of XLRS, developmental delay, sensorineural hearing loss, and reduced axial tone reported for the first time in the literature. | Genetic studies in a patient with X-linked retinoschisis coexisting with developmental delay and sensorineural hearing loss.
Sudha D, Patric IRP, Ganapathy A, Agarwal S, Krishna S, Neriyanuri S, Sripriya S, Sen P, Chidambaram S, Arunachalam JP. | 11/18/2017 |
| Results suggest a regulatory effect of retinoschisin on Na/K-ATPase signaling and localization, whereas Na/K-ATPase-dysregulation caused by retinoschisin deficiency could represent an initial step in XLRS pathogenesis. | Retinoschisin is linked to retinal Na/K-ATPase signaling and localization.
Plössl K, Royer M, Bernklau S, Tavraz NN, Friedrich T, Wild J, Weber BHF, Friedrich U., Free PMC Article | 11/18/2017 |
| these findings support distinct mechanisms of pathology for two classes of X-linked retinoschisis -associated mutations in the retinoschisin assembly. | Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
Ramsay EP, Collins RF, Owens TW, Siebert CA, Jones RPO, Wang T, Roseman AM, Baldock C., Free PMC Article | 06/10/2017 |
| A novel RS1 (97delT) mutation was identified in a Taiwanese family with X-linked retinoschisis (XLRS). This finding expands the RS1 mutation spectrum and may help to further understand the molecular pathogenesis of XLRS. | A novel gene mutation in a family with X-linked retinoschisis.
Lai YH, Huang SP, Chen SP, Hu PS, Lin SF, Sheu MM, Wang HZ, Tsai RK. | 11/19/2016 |
| Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans. | Clinical and molecular characterization of females affected by X-linked retinoschisis.
Staffieri SE, Rose L, Chang A, De Roach JN, McLaren TL, Mackey DA, Hewitt AW, Lamey TM. | 04/16/2016 |
| A novel RS1 (304C > T) mutation in a Taiwanese family with X-linked retinoschisis. | The gene mutation in a Taiwanese family with X-linked retinoschisis.
Huang CT, Chen SP, Tsai RK. | 03/12/2016 |
| We identified a novel causative mutation of RS1 in a Chinese family with X-linked juvenile retinoschisis. | A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.
Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q., Free PMC Article | 05/23/2015 |
| the disease and p.Arg197Cys mutation of RS1 gene was identified | X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.
Ulinska M, Kmera-Muszynska M, Szulborski K, Broniek-Kowalik K, Franaszczyk M, Oldak M, Ploski R. | 05/16/2015 |