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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 02 Nov 2015.

Retinoschisin 1

Retinoschisis, RS1, X-linked juvenile retinoschisis, XLRS1
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. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: HAD, CAN, ACID, AGE, OCT
Papers using Retinoschisis antibodies
Gs G protein–coupled receptor signaling in osteoblasts elicits age-dependent effects on bone formation
Hsiao E. C. et al., In Calcified Tissue International, 2009
... ColI(2.3)-tTA/TetO-Rs1
Papers on Retinoschisis
HSV-1 infection of tree shrews differs from that of mice in the severity of acute infection and viral transcription in the peripheral nervous system.
Zhou et al., Kunming, China. In J Virol, 28 Nov 2015
Cultivation of supernatant from homogenized, acutely infected TGs with RS1 cells also exhibited an absence of infectious HSV-1 from tree shrew TGs.
The Hybrid Pre-CTXΦ-RS1 Prophage Genome and Its Regulatory Function in Environmental Vibrio cholerae O1 Strains.
Kan et al., Changping, China. In Appl Environ Microbiol, 15 Nov 2015
A novel hybrid genome of the helper phage RS1 was identified in an environmental strain carrying pre-CTX(ZJ)Φ in this study.
Phosphorylation of RS1 (RSC1A1) Steers Inhibition of Different Exocytotic Pathways for Glucose Transporter SGLT1 and Nucleoside Transporter CNT1 and a RS1 Derived Peptide Inhibits Glucose Absorption.
Koepsell et al., Würzburg, Germany. In Mol Pharmacol, 13 Nov 2015
The human gene RSC1A1 codes for a 67-kDa protein named RS1 that has been shown to induce downregulation of SGLT1 and of the concentrating nucleoside transporter CNT1 in the plasma membrane by blocking exocytosis at the Golgi.
Safety and Biodistribution Evaluation of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin, in RS1-Deficient Mice.
Chulay et al., Seattle, United States. In Hum Gene Ther Clin Dev, Sep 2015
We report here results of a study evaluating the safety and biodistribution of rAAV2tYF-CB-hRS1 in RS1-deficient mice.
Safety and Biodistribution Evaluation in Cynomolgus Macaques of rAAV2tYF-CB-hRS1, a Recombinant Adeno-Associated Virus Vector Expressing Retinoschisin.
Chulay et al., Seattle, United States. In Hum Gene Ther Clin Dev, Sep 2015
Applied Genetic Technologies Corporation is developing rAAV2tYF-CB-hRS1, a recombinant adeno-associated virus (rAAV) vector for treatment of X-linked retinoschisis (XLRS), an inherited retinal disease characterized by splitting (schisis) of retinal layers causing poor vision.
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.
Sieving et al., Bethesda, United States. In Cold Spring Harb Perspect Med, Aug 2015
Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males.
The BRAF pseudogene functions as a competitive endogenous RNA and induces lymphoma in vivo.
Pandolfi et al., Boston, United States. In Cell, May 2015
Here, we report that mice engineered to overexpress either the full-length murine B-Raf pseudogene Braf-rs1 or its pseudo "CDS" or "3' UTR" develop an aggressive malignancy resembling human diffuse large B cell lymphoma.
Retinal microglia: just bystander or target for therapy?
Langmann et al., Köln, Germany. In Prog Retin Eye Res, Mar 2015
These include rare hereditary retinopathies such as retinitis pigmentosa and X-linked juvenile retinoschisis but also comprise more common multifactorial retinal diseases such as age-related macular degeneration, diabetic retinopathy, glaucoma, and uveitis as well as neurological disorders with ocular manifestation.
Comprehensive Assessment of Host Responses to 5-Fluorouracil-Induced Oral Mucositis through Transcriptomic Analysis.
Huang et al., Taipei, Taiwan. In Plos One, Dec 2014
The gene expression of Bone gamma-carboxyglutamate protein, related sequence 1 (Bglap-rs1) (-12.69-fold) and Chitinase 3-like 4 (Chi3l4) (-6.35-fold) were significantly down-regulated in this phase.
Detailed Morphological Changes of Foveoschisis in Patient with X-Linked Retinoschisis Detected by SD-OCT and Adaptive Optics Fundus Camera.
Takahashi et al., Chiba, Japan. In Case Rep Ophthalmol Med, Dec 2014
To report the morphological and functional changes associated with a regression of foveoschisis in a patient with X-linked retinoschisis (XLRS).
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
Mukai et al., Boston, United States. In Semin Ophthalmol, 2013
X-linked juvenile retinoschisis (XLRS) is one of the most common genetic causes of juvenile progressive retinal-vitreal degeneration in males.
X-linked juvenile retinoschisis in females and response to carbonic anhydrase inhibitors: case report and review of the literature.
Seth et al., Tucson, United States. In Semin Ophthalmol, 2013
X-linked retinoschisis was diagnosed in the patient after her retina exam revealed an area of retinoschisis and a foveal cyst.
Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.
Dong et al., Beijing, China. In Ophthalmic Genet, 2012
Clinical follow-up of an X-linked juvenile retinoschisis (XLRS) patient with a typical juvenile retinoschisis phenotype revealed no significant decline in visual acuity during this time period.
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.
Weber et al., Vancouver, Canada. In Prog Retin Eye Res, 2012
X-linked juvenile retinoschisis (XLRS, MIM 312700) is a common early onset macular degeneration in males characterized by mild to severe loss in visual acuity, splitting of retinal layers, and a reduction in the b-wave of the electroretinogram (ERG).
Novel RS1 mutations associated with X-linked juvenile retinoschisis.
Zhang et al., Changsha, China. In Int J Mol Med, 2012
Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families with retinoschisis.
Biology of retinoschisin.
Sieving et al., Bethesda, United States. In Adv Exp Med Biol, 2011
RS1 is needed for preservation of synaptic structures but not synaptogenesis in retinoschisis model.
In silico investigation of the disease-associated retinoschisin C110Y and C219G mutants.
Liu et al., Taipei, Taiwan. In J Biomol Struct Dyn, 2011
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
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
Roorda et al., San Francisco, United States. In Invest Ophthalmol Vis Sci, 2010
adaptive optics scanning laser ophthalmoscopy images of two patients with molecularly characterized XLRS revealed increased cone spacing and abnormal packing in the macula of each patient, but cone coverage and function were near normal.
Positional cloning of the gene associated with X-linked juvenile retinoschisis.
Weber et al., Würzburg, Germany. In Nat Genet, 1997
X-linked juvenile retinoschisis(RS) is a recessively inherited vitreo-retinal degeneration characterized by macular pathology and intraretinal splitting of the retina.
Duplication and amplification of toxin genes in Vibrio cholerae.
Mekalanos, In Cell, 1983
The variation in size among these large tandem duplications was due to a difference in the copy number of a smaller, 2.7 kb, tandemly repeated sequence (RS1) that is located at the novel joint of these duplications, as well as upstream and downstream of ctx.
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