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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
Retinal Microglia: Just Bystander or Target for Therapy ?
Langmann et al., Köln, Germany. In Prog Retin Eye Res, 01 Jan 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.
CT Density Distribution Analysis in Patients with Cystic Fibrosis: Correlation with Pulmonary Function and Radiologic Scores.
Bayat et al., Amiens, France. In Acad Radiol, 11 Dec 2014
RESULTS: Positive relations were evidenced between the log indices of lung density distribution kurtosis (iKurtosis) and the overall radiologic scores (RS) of both observers (R = 0.58; P < .001 vs RS1 and R = 0.71; P < .001 vs RS2).
Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis.
Sieving et al., Houston, United States. In Transl Vis Sci Technol, Sep 2014
PURPOSE: To examine the variability of four outcome measures that could be used to address safety and efficacy in therapeutic trials with X-linked juvenile retinoschisis.
[Arginine-vasopressin receptor gene (AVPR1A, AVPR1B) polymorphisms and their relation to personality traits].
In Genetika, Mar 2014
The present study aimed to assess the main effects ofAVPRIA (rs11174811, RSI) and AVPRIB (rs28632197, rs33911258) gene polymorphisms, as well as haplotypic, GxE and GxG effects on personality trait variation in 1018 healthy individuals, considering gender and ethnicity confounding.
X-linked juvenile retinoschisis (XLRS): a review of genotype-phenotype relationships.
Mukai et al., Boston, United States. In Semin Ophthalmol, Sep 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.
Retinoschisis detected by spectral-domain optical coherence tomography in von hippel-lindau disease.
Ohta et al., Matsumoto, Japan. In Retin Cases Brief Rep, 2011
PURPOSE: To report the presence of retinoschises in a case of von Hippel-Lindau disease detected by spectral-domain optical coherence tomography.
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.
Spontaneous closure of macular hole in a patient with x-linked juvenile retinoschisis.
Peracha et al., Indianapolis, United States. In Retin Cases Brief Rep, 2009
METHODS AND PATIENT: A 4-year-old boy with X-linked juvenile retinoschisis was examined and followed-up for 2 years.
Congenital x-linked retinoschisis: a novel approach for management of a large schitic cavity overhanging the macula.
Deshmukh et al., Chennai, India. In Retin Cases Brief Rep, 2008
PURPOSE: To describe a novel surgical technique used in the management of a patient with congenital X-linked juvenile retinoschisis who presented with a schitic cavity overhanging the macula.
[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.
Surgical removal of the internal limiting membrane in progressive macular change in x-linked juvenile retinoschisis.
Kwon et al., Seoul, South Korea. In Retin Cases Brief Rep, 2006
PURPOSE: To report two cases of progressive macular changes in X-linked juvenile retinoschisis (XLRS) treated with vitrectomy.
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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