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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 15 May 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, U2AF35
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
Clinical and molecular characterisation of females affected by X-linked retinoschisis.
New
Lamey et al., Melbourne, Australia. In Clin Experiment Ophthalmol, 20 May 2015
BACKGROUND: X-linked Retinoschisis (XLRS) is a leading cause of juvenile macular degeneration associated with mutations in the RS1 gene.
Integration of Signaling in the Kinome: Architecture and Regulation of the αC Helix.
New
Kornev et al., San Diego, United States. In Biochim Biophys Acta, 16 May 2015
RS1 is in the catalytic loop, RS2 is the Phe in the DFG motif, RS3 is at the C-terminus of the αC-Helix, and RS4 is at the beginning of β4.
The BRAF Pseudogene Functions as a Competitive Endogenous RNA and Induces Lymphoma In Vivo.
New
Impact
Pandolfi et al., Boston, United States. In Cell, 09 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.
Retinoschisis and outer retinal hole formation in a patient with papillorenal syndrome.
New
Duker et al., In Ophthalmic Surg Lasers Imaging Retina, 01 May 2015
This report describes a 19-year-old patient with the rare association of macular retinoschisis and outer retinal hole formation with papillorenal syndrome.
Rapid resolution of retinoschisis with acetazolamide.
New
Tsang et al., New York City, United States. In Doc Ophthalmol, 22 Apr 2015
PURPOSE: To report the results of an acetazolamide (Diamox(®)) treatment regimen in a genetically confirmed case of X-linked juvenile retinoschisis (XLRS).
Mechanisms of Starch Digestion by α-amylase-structural Basis for Kinetic Properties.
New
Gidley et al., Australia. In Crit Rev Food Sci Nutr, 09 Apr 2015
The current classification of resistant starch types as RS1,2,3,4 should be replaced by one which recognises the essential kinetic nature of RS (enzyme digestion rate vs small intestinal passage rate), and that there are two fundamental origins for resistance based on (i) rate-determining access/binding of enzyme to substrate and (ii) rate-determining conversion of substrate to product once bound.
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.
Hybrid Vibrio cholerae El Tor lacking SXT identified as the cause of a cholera outbreak in the Philippines.
New
Colwell et al., Quezon, Philippines. In Mbio, Dec 2014
The CTXΦ-RS1 array of the Philippines isolates was similar to that of V. cholerae O1 MG116926, a hybrid El Tor strain isolated in Bangladesh in 1991.
X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.
Ploski et al., In Klin Oczna, 2013
The aim of the study is to present an atypical case of late-onset X-linked retinoschisis.
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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