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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, U2AF35
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
Oxytocin and Vasopressin Receptor Polymorphisms Interact With Circulating Neuropeptides to Predict Human Emotional Reactions to Stress.
Taylor et al., In Emotion, 24 Apr 2014
In this study, 68 men and 98 women were genotyped for the OXTR rs53576 polymorphism and the AVPR1A RS1 polymorphism.
Stellate Nonhereditary Idiopathic Foveomacular Retinoschisis.
Yannuzzi et al., Chicago, United States. In Ophthalmology, 21 Apr 2014
PURPOSE: To describe a new classification of stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR).
Retinoschisis in the setting of coats' disease.
Berrocal et al., In Ophthalmic Surg Lasers Imaging Retina, 01 Apr 2014
Optical coherence tomography confirmed the concurrent presence of retinoschisis in the same eye, adjacent to the areas of exudation and ischemia.
A novel gene therapy vector based on hyaluronic acid and solid lipid nanoparticles for ocular diseases.
Solinís et al., Vitoria-Gasteiz, Spain. In Int J Pharm, 24 Mar 2014
Besides, the therapeutic plasmid which encodes the protein retinoschisin was employed achieving a positive transfection in ARPE-19 cells, showing a promising application of this new non-viral system for the treatment of X-linked juvenile retinoschisis by gene therapy.
R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.
Jin et al., Wenzhou, China. In Int J Ophthalmol, Dec 2013
AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma.
Photoreceptor Pathology in the X-Linked Retinoschisis (XLRS) Mouse Results in Delayed Rod Maturation and Impaired Light Driven Transducin Translocation.
Sieving et al., Roma, Italy. In Adv Exp Med Biol, Dec 2013
Loss- of- expression of the retina specific cell surface protein, retinoschsin (Rs1-KO), led to a dramatic 3-10 fold increase, depending on age, in the luminance threshold for transducin translocation from ROS into IS compared with wild-type control.
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.
Single-nucleotide polymorphisms of TNFA and IL1 in allergic rhinitis.
Rezaei et al., In J Investig Allergol Clin Immunol, 2012
Genotyping was performed using polymerase chain reaction with sequence-specific primers for 2 TNFA promoter variants (rs1800629 and rs361525), 1 variant in the promoter region of IL1A (rs1800587), 2 SNPs in the IL1B gene (rs16944 and rs1 143634), 1 variant in the IL1 receptor (rs2234650), and 1 in IL1RA (rs315952).
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
Phosphorylation mechanism and structure of serine-arginine protein kinases.
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.
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.
[Retinal detachment in children: differential diagnosis and current therapy].
Meier, Leipzig, Germany. In Klin Monbl Augenheilkd, 2008
Associated conditions include hereditary vitreoretinal disorders (e. g., morbus Stickler, X-linked juvenile retinoschisis, Marfan syndrome, familiär exsudative vitreoretinopathy), malformations (e. g., persistent hyperplastic primary vitreous, coloboma) and retinal detachment following cataract surgery.
[Study of vitreoretinal dystrophies in a Mexican population].
Lambarri-Arroyo et al., Mexico. In Cir Cir, 2008
We found an incidence of 0.008% for familial exudative vitreoretinal dystrophy, 0.008% for X-linked juvenile retinoschisis, 0.005% for Wagner disease and 0.005% for Goldmann-Favre disease.
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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