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RS1 encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. Additionally we are shipping Retinoschisin 1 Antibodies (8) and Retinoschisin 1 Proteins (6) and many more products for this protein.
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A novel RS1 (304C > T) mutation in a Taiwanese family with X-linked retinoschisis.
We identified a novel causative mutation of RS1 in a Chinese family with X-linked juvenile retinoschisis.
the disease and p.Arg197Cys mutation of RS1 gene was identified
Sequencing of the RS1 gene identified 16 mutations, nine of which were novel.
Severe RS1 missense changes were associated with a lower ERG b (show ERG ELISA Kits)/a ratio than were mild changes in X-linked retinoschisis suggesting the effect of the mutations on protein structure influenced the retinal dysfunction.
Two novel exonic deletions within the RS1 gene locus, are reported.
There is profound phenotypic variability in patients with XLRS. Nonsense, splice-site, or frame-shifting mutations in RS1 consistently caused electronegative bright-flash ERG (show ERG ELISA Kits), delayed flicker response, and abnormal PERG
Four novel RS1 gene mutations have been described in male Polish patients with X-linked juvenile retinoschisis.
aggregation propensity in the RS1 C110Y mutant is dependent upon the formation of suitable aggregating substrates for propagation of aggregation and not directly related to or determined by overall structural instability
Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families with retinoschisis.
Changes in Rs1-knockout mice were associated with age related alterations in photoreceptor morphology and transcription factor expression that suggest delayed photoreceptor maturation.
Time line analysis after short-term treatment with dorzolamide failed to show short-, intermediate-, or long-term evidence of structural improvement in Rs1h(-/y) mice.
The results of this study demonstrated that loss of Rs1 gene function has a significant impact on the expression of photoreceptor transcription factor network genes, and morphological and functional defects in young (P21) Rs1-KO mice.
RS1 is needed for preservation of synaptic structures but not synaptogenesis in retinoschisis model.
Data suggest that a CpG island enhancer and two CBRs may act in a combinatorial fashion to fine-tune RS1 transcript levels in the retina.
Retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 (show ATP1A3 ELISA Kits) and ATP1B2 (show ATP1B2 ELISA Kits).
Upon Rs1 adsorption, phosphatidylserine and phosphatidylserine-containing mixed lipid bilayers underwent fast and extensive reorganization.
Inactivation of Rs1h suggests a role of retinoschisin in retinal cell layer organization and synaptic structure
After synthesis and secretion by the photoreceptors, retinoschisin [Xlrs1] reaches the surface of retinal cells and mediates interactions/adhesion between photoreceptor, bipolar, and Muller cells
Mimics structural features of human X-linked juvenile retinoschisis. Knockout results in electronegative ERG (show ERG ELISA Kits) waveform characteristic of human retinoschisis and implicates synaptic transmission deficit in the absence of retinoschisin protein.
This gene encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. The encoded protein is assembled and secreted from photoreceptors and bipolar cells as a homo-oligomeric protein complex. Mutations in this gene are responsible for X-linked retinoschisis, a common, early-onset macular degeneration in males that results in a splitting of the inner layers of the retina and severe loss in vision.
retinoschisis (X-linked, juvenile) 1
, retinoschisin 1
, X-linked juvenile retinoschisis protein
, X-linked juvenile retinoschisis protein homolog
, retinoschisis 1 homolog