Results 1 to 10 of about 15,770 (195)

RS1 gene is a novel prognostic biomarker for lung adenocarcinoma [PDF]

Thoracic Cancer, 2022
Background Although it has a poor prognosis, patients with lung adenocarcinoma (LUAD) have a relatively higher 5‐year survival period. Thus, it is necessary to identify effective prognostic markers to evaluate the effect of early treatment.
Tao Zhang, Guowei Cheng, Ping Chen, Yue Peng, Lei Liu, Runze Li, Bin Qiu   +6 more
doaj   +4 more sources

A novel mutation in the RS1 gene in a Chinese family with X-linked congenital retinoschisis. [PDF]

Exp Ther Med, 2021
The purpose of the present study was to assess the clinical characteristics of X-linked retinoschisis (XLRS) in a Chinese family over a 7-year period with the aim of identifying possible genetic mutations associated with this disease. A total of 2 male siblings from a family with XLRS were followed up for 7 years and the best-corrected visual acuity ...
Zhang N, Peng Y, Zhou N, Qi Y.
europepmc   +4 more sources

AAV2/4-RS1 gene therapy in the retinoschisin knockout mouse model of X-linked retinoschisis. [PDF]

PLoS One, 2022
Objective To evaluate efficacy of a novel adeno-associated virus (AAV) vector, AAV2/4-RS1, for retinal rescue in the retinoschisin knockout (Rs1-KO) mouse model of X-linked retinoschisis (XLRS). Brinzolamide (Azopt®), a carbonic anhydrase inhibitor, was tested for its ability to potentiate the effects of AAV2/4-RS1.
Scruggs BA, Bhattarai S, Helms M, Cherascu I, Salesevic A, Stalter E, Laird J, Baker SA, Drack AV.   +8 more
europepmc   +5 more sources

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]

Stem Cell Reports, 2019
Summary: X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal
Kang-Chieh Huang, Mong-Lien Wang, Shih-Jen Chen, Jean-Cheng Kuo, Won-Jing Wang, Phan Nguyen Nhi Nguyen, Karl J. Wahlin, Jyh-Feng Lu, Audrey A. Tran, Michael Shi, Yueh Chien, Aliaksandr A. Yarmishyn, Ping-Hsing Tsai, Tien-Chun Yang, Wann-Neng Jane, Chia-Ching Chang, Chi-Hsien Peng, Thorsten M. Schlaeger, Shih-Hwa Chiou   +18 more
doaj   +4 more sources

Genetic Rescue of X-Linked Retinoschisis Mouse (Rs1^-/y) Retina Induces Quiescence of the Retinal Microglial Inflammatory State Following AAV8-RS1 Gene Transfer and Identifies Gene Networks Underlying Retinal Recovery. [PDF]

Hum Gene Ther, 2021
To understand RS1 gene interaction networks in the X-linked retinoschisis (XLRS) mouse retina (Rs1-/y), we analyzed the transcriptome by RNA sequencing before and after in vivo expression of exogenous retinoschisin (RS1) gene delivered by AAV8. RS1 is a secreted cell adhesion protein that is critical for maintaining structural lamination and synaptic ...
Vijayasarathy C, Zeng Y, Brooks MJ, Fariss RN, Sieving PA.   +4 more
europepmc   +9 more sources

Rebound macular edema following oral acetazolamide therapy for juvenile X-linked retinoschisis in an Italian family [PDF]

Clinical Ophthalmology, 2016
Maria Silvana Galantuomo,1,* Maurizio Fossarello,1 Alberto Cuccu,1 Roberta Farci,1 Markus N Preising,2 Birgit Lorenz,2 Pietro Emanuele Napoli1,* 1Department of Surgical Sciences, Eye Clinic, University of Cagliari, Cagliari, Italy; 2Department of ...
Galantuomo MS, Fossarello M, Cuccu A, Farci R, Preising MN, Lorenz B, Napoli PE   +6 more
doaj   +3 more sources

Comprehensive analysis of RS1 gene mutations and clinical manifestations in nine unrelated X-linked retinoschisis (XLRS) Chinese families [PDF]

BMC Ophthalmology
Purpose X-linked retinoschisis (XLRS) is an X-linked recessive (XLR) inherited retinal disease. Accurate diagnosis of XLRS is difficult because of its diverse clinical presentations and genetic heterogeneity.
Dongjun Xing, Cece Zhao, Yan Shao, Rongguo Yu, Zhaohui Cheng, Linni Wang, Bincui Cai, Yibo Gong, Zhiqing Li, Xiaorong Li   +9 more
doaj   +2 more sources

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis. [PDF]

Hum Genome Var, 2019
AbstractX-linked congenital retinoschisis (XLRS) is an inherited retinal disorder characterized by reduced central vision and schisis of the macula and peripheral retina. XLRS is caused by mutations in the RS1 gene. We have identified 37 different mutations in the RS1 gene, including 12 novel mutations, in 67 Japanese patients from 56 XLRS families. We
Kondo H, Oku K, Katagiri S, Hayashi T, Nakano T, Iwata A, Kuniyoshi K, Kusaka S, Hiyoshi A, Uchio E, Kondo M, Oishi N, Kameya S, Mizota A, Naoi N, Ueno S, Terasaki H, Morimoto T, Iwaki M, Yoshitake K, Iejima D, Fujinami K, Tsunoda K, Shinoda K, Iwata T.   +24 more
europepmc   +4 more sources

A Novel AAV Capsid-Mediated RS1 Gene Therapy Restored Retinal Function to Wild-Type Levels in Rs1R213W Mouse Model. [PDF]

Invest Ophthalmol Vis Sci
X-linked juvenile retinoschisis (XLRS) is a retinal disease caused by retinoschisin 1 (RS1) gene variants, potentially leading to severe visual impairment and blindness. This study aimed to develop a novel adeno-associated virus (AAV) serotype and evaluate its therapeutic potential in an XLRS mouse model.A novel RS1 mouse model was established using ...
Wei X, Ma S, Zhou Y, Cui H, Zhang S, Wang D, Fu Y, Li W, Han H, Li Y, Li W, Liu H, Sun Z, Han X, Zou X, Li H, Wang C, Sui R.   +17 more
europepmc   +3 more sources