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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
Association and Promoter Analysis of AVPR1A in Finnish Autism Families.
Järvelä et al., Helsinki, Finland. In Autism Res, 23 Mar 2015
Given that the microsatellite RS1 and a few SNPs in the promoter region of the AVPR1A have repeatedly associated with several traits, including autism it is rather surprising that the molecular explanation for these associations has remained unknown, although it has been reported that the allele length of the AVPR1A microsatellites might affect disease risk.
The CSC proteins FAP61 and FAP251 build the basal substructures of radial spoke 3 in cilia.
Wloga et al., Warsaw, Poland. In Mol Biol Cell, 18 Mar 2015
Each repeat contains three radial spokes, RS1, RS2, and RS3, that transduct signals between the central microtubules and dynein arms.
FAP206 is a microtubule-docking adapter for ciliary radial spoke 2 and dynein c.
Gaertig et al., Warsaw, Poland. In Mol Biol Cell, 15 Mar 2015
A triplet of three radial spokes, RS1, RS2, and RS3, repeats every 96 nm along the doublet microtubules.
CT density distribution analysis in patients with cystic fibrosis: correlation with pulmonary function and radiologic scores.
Bayat et al., Amiens, France. In Acad Radiol, 28 Feb 2015
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).
Recognition of bacterial signal peptides by mammalian formyl peptide receptors: a new mechanism for sensing pathogens.
Zufall et al., Germany. In J Biol Chem, 20 Feb 2015
The vomeronasal receptor mFpr-rs1 and its sequence orthologue hFPR3 also react to signal peptides but are much more narrowly tuned in signal peptide recognition.
Case report: pneumatic retinopexy for the treatment of progressive retinal detachment in senile retinoschisis.
Takahashi et al., São Paulo, Brazil. In Arq Bras Oftalmol, 31 Jan 2015
UNASSIGNED: Retinoschisis is an abnormal separation of the retinal layers and is asymptomatic in most cases.
Retinal microglia: Just bystander or target for therapy?
Langmann et al., Köln, Germany. In Prog Retin Eye Res, 02 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.
[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.
Oxidative enzymes, the ultimate regulator: implications for factors affecting their efficiency.
Huang et al., In J Environ Qual, 2013
Rice straw (RS) and green manure (GM) were used at three rates (0, 5, and 25 mg g soil, expressed as control [CK], RS1, RS2, GM1, and GM2, respectively).
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
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.
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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