|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Rs1 gene editing in mouse retinas resulted in several pathological features typical for XLRS, such as aberrant photoreceptor structure.
|
31672582 |
2020 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The newly derived CSUASOi001-A iPS cell line harboring the c.304C > T mutation in the RS1 gene (p.R102W) provides a useful resource to investigate pathogenic mechanisms in XLRS.
|
31141763 |
2019 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype.
|
31668851 |
2019 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked juvenile retinoschisis (XLRS) is a hereditary retinal dystrophy, caused by mutations in the RS1 gene which encodes the secreted protein retinoschisin.
|
31048931 |
2019 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the retinal protein retinoschisin (RS1) cause progressive loss of vision in young males, a form of macular degeneration called X-linked retinoschisis (XLRS).
|
30630865 |
2019 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To evaluate diurnal variations in macular schisis cavities in patients with X-linked juvenile retinoschisis (XLRS) with pathogenic variants in the RS1 gene using spectral-domain optical coherence tomography (SD-OCT).
|
29902095 |
2018 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pathomechanism of mutated and secreted retinoschisin in X-linked juvenile retinoschisis.
|
30040949 |
2018 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked retinoschisis (XLRS) is a retinal degenerative disorder caused by mutations in RS1 gene leading to splitting of retinal layers (schisis) which impairs visual signal processing.
|
29851975 |
2018 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The aim of the study was to determine optical coherence tomography angiography (OCTA) findings and to identify mutations in the RS1 gene in a three-generation family with X-linked juvenile retinoschisis (XLRS).
|
30222815 |
2018 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study evaluated the safety and tolerability of ocular RS1 adeno-associated virus (AAV8-RS1) gene augmentation therapy to the retina of participants with X-linked retinoschisis (XLRS).
|
30196853 |
2018 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Taken together, our 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.
|
28615319 |
2017 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
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.
|
29379415 |
2017 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
RS1 gene screening for XLRS was performed by Sanger sequencing.
|
28574807 |
2017 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A retrospective observational case series was performed in 65 patients with XLRS with a pathogenic variant in retinoschisin 1.
|
28348004 |
2017 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To further investigate the role for retinoschisin in MAP kinase regulation, we exposed Y-79 cells and murine Rs1h<sup>-/Y</sup> retinae to recombinant retinoschisin and the XLRS-associated mutant RS1-C59S.
|
27995734 |
2017 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene.
|
25894957 |
2016 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The H207Q XLRS-associated mutation was found in the interface between octamers and destabilized both monomeric and octameric retinoschisin.
|
27798099 |
2016 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Our study is to describe the clinical characteristics of a four generations of this family (a total of 18 members)with X-linked retinoschisis (XLRS) and detected a novel mutations of c.3G > A (p.M1?) in the initiation codon of the RS1 gene. by direct sequencing.Identification of this mutation in this family provides evidence about potential genetic or environmental factors on its phenotypic variance, as patients presented with different phenotypes regardless of having the same mutation.
|
26823236 |
2016 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
X-linked retinoschisis (XLRS) is juvenile-onset macular degeneration caused by haploinsufficiency of the extracellular cell adhesion protein retinoschisin (RS1).
|
27390514 |
2016 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Upon AAV8-RS1 gene transfer to the retina of adult XLRS mice, TRPM1 and the signaling molecules returned to their proper dendritic tip location, and the DBC resting membrane potential was restored.
|
26098217 |
2015 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study is to describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the genetic mutation in the retinoschisin 1 (RS1) gene.
|
26043410 |
2015 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
Biomarker
|
disease |
BEFREE |
Introduction of a normal human retinoschisin cDNA into retinoschisin knockout mice restores retinal structure and improves neural function, providing proof-of-concept that gene replacement therapy is a plausible treatment for XLRS.
|
26101206 |
2015 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To describe the clinical characteristics of a Taiwanese family with X-linked retinoschisis (XLRS) and to investigate the molecular genetics of a novel mutation in the retinoschisin 1 (RS1) gene.
|
24529551 |
2015 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
X-linked juvenile retinoschisis (XLRS), which results from mutations in the gene RS1 that encodes the protein retinoschisin, is a retinal degenerative disease affecting between 1/5000 and 1/25,000 people worldwide.
|
26400864 |
2015 |
|
Retinoschisis, Juvenile, X-Linked
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
|
24505212 |
2014 |