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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
Supplier
Hsiao E. C. et al., In Calcified Tissue International, 2009
... ColI(2.3)-tTA/TetO-Rs1
Papers on Retinoschisis
Intra-domain Cross-talk Regulates Serine-arginine Protein Kinase 1-dependent Phosphorylation and Splicing Function of Transformer 2β1.
New
Adams et al., San Diego, United States. In J Biol Chem, 10 Aug 2015
Transformer 2β1 (Tra2β1) is a splicing effector protein composed of a core RNA recognition motif flanked by two arginine-serine-rich (RS) domains, RS1 and RS2.
Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer.
New
Sieving et al., In J Clin Invest, 01 Aug 2015
The human retinal synaptic disease X-linked retinoschisis (XLRS) is characterized by impaired visual signal transmission through the retina and progressive visual acuity loss, and mice lacking retinoschisin (RS1) recapitulate human disease.
Sodium-glucose cotransport.
New
Rieg et al., San Diego, United States. In Curr Opin Nephrol Hypertens, 26 Jul 2015
Several studies provide evidence of SGLT regulation via cyclic adenosine monophosphate/protein kinase A, protein kinase C, glucagon-like peptide 2, insulin, leptin, signal transducer and activator of transcription-3 (STAT3), phosphoinositide-3 kinase (PI3K)/Akt, mitogen-activated protein kinases (MAPKs), nuclear factor-kappaB (NF-kappaB), with-no-K[Lys] kinases/STE20/SPS1-related proline/alanine-rich kinase (Wnk/SPAK) and regulatory solute carrier protein 1 (RS1) pathways.
Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.
New
Sieving et al., Bethesda, United States. In Cold Spring Harb Perspect Med, 22 Jul 2015
UNASSIGNED: Retinoschisis is an X-linked recessive genetic disease that leads to vision loss in males.
The gene mutation in a Taiwanese family with X-linked retinoschisis.
New
Tsai et al., Taiwan. In Kaohsiung J Med Sci, 30 Jun 2015
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.
SU-E-T-189: Commission Range Shifter On a Spot Scanning Proton System Using Raystation Treatment Planning System.
New
Wu et al., Shreveport, United States. In Med Phys, 30 Jun 2015
chest wall, head&neck or cranial cases, we commissioned two range shifter(RS) in Raystation4.0 with 7.37cm(RS1) and 4.1cm(RS2) Water Equivalent Thickness(WET) respectively.
The BRAF pseudogene functions as a competitive endogenous RNA and induces lymphoma in vivo.
New
Impact
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?
Review
New
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.
Clinical presentations of X-linked retinoschisis in Taiwanese patients confirmed with genetic sequencing.
New
Lai et al., Taiwan. In Mol Vis, Dec 2014
The coding regions of the RS1 gene that encodes retinoschisin were sequenced.
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
Review
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.
Review
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.
GeneRIF
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.
Review
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.
GeneRIF
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.
GeneRIF
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.
GeneRIF
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
Phosphorylation mechanism and structure of serine-arginine protein kinases.
Review
Adams et al., San Diego, United States. In Febs J, 2011
SRPK1 binds SRSF1 with unusually high affinity, and rapidly modifies about 10-12 serines in the N-terminal region of the RS domain (RS1), using a mechanism that incorporates sequential, C-terminal to N-terminal phosphorylation and several processive steps.
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
GeneRIF
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.
Impact
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.
Impact
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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