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RS1 encodes an extracellular protein that plays a crucial role in the cellular organization of the retina. Zusätzlich bieten wir Ihnen Retinoschisin 1 Antikörper (9) und Retinoschisin 1 Kits (7) und viele weitere Produktgruppen zu diesem Protein an.
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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.
Results suggest a regulatory effect of retinoschisin on Na/K-ATPase (zeige ATP1A1 Proteine) signaling and localization, whereas Na/K-ATPase (zeige ATP1A1 Proteine)-dysregulation caused by retinoschisin deficiency could represent an initial step in XLRS pathogenesis.
these findings support distinct mechanisms of pathology for two classes of X-linked retinoschisis -associated mutations in the retinoschisin assembly.
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 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 (zeige ERG Proteine)/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.
retinoschisin is a novel regulator of MAP kinase (zeige MAPK1 Proteine) signalling and exerts an anti-apoptotic effect on retinal cells.
Based on this structure, we propose that RS1 couples neighboring membranes together through octamer-octamer contacts, perhaps modulated by interactions with other membrane components.
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 (zeige ATP1A3 Proteine) and ATP1B2 (zeige ATP1B2 Proteine).
Upon Rs1 adsorption, phosphatidylserine and phosphatidylserine-containing mixed lipid bilayers underwent fast and extensive reorganization.
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