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    RS1 retinoschisin 1 [ Homo sapiens (human) ]

    Gene ID: 6247, updated on 20-Apr-2017

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    A novel RS1 (97delT) mutation was identified in a Taiwanese family with X-linked retinoschisis (XLRS). This finding expands the RS1 mutation spectrum and may help to further understand the molecular pathogenesis of XLRS.

    A novel gene mutation in a family with X-linked retinoschisis.
    Lai YH, Huang SP, Chen SP, Hu PS, Lin SF, Sheu MM, Wang HZ, Tsai RK.

    Clinical and genetic characterization of affected homozygous females in XLRS affords the rare opportunity to explore the molecular mechanisms of XLRS and the manifestation of these mutations as disease in humans.

    Clinical and molecular characterization of females affected by X-linked retinoschisis.
    Staffieri SE, Rose L, Chang A, De Roach JN, McLaren TL, Mackey DA, Hewitt AW, Lamey TM.

    A novel RS1 (304C > T) mutation in a Taiwanese family with X-linked retinoschisis.

    The gene mutation in a Taiwanese family with X-linked retinoschisis.
    Huang CT, Chen SP, Tsai RK.

    We identified a novel causative mutation of RS1 in a Chinese family with X-linked juvenile retinoschisis.

    A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.
    Huang Y, Mei L, Gui B, Su W, Liang D, Wu L, Pan Q., Free PMC Article

    the disease and p.Arg197Cys mutation of RS1 gene was identified

    X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.
    Ulinska M, Kmera-Muszynska M, Szulborski K, Broniek-Kowalik K, Franaszczyk M, Oldak M, Ploski R.

    X-linked retinoschisis despite striking differences in phenotypic presentation in affected subjects, homozygosity of one affected female, and seemingly dominant inheritance in three subsequent generations because of multiple consanguinity.

    X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.
    Gliem M, Holz FG, Stöhr H, Weber BH, Charbel Issa P.

    Sequencing of the RS1 gene identified 16 mutations, nine of which were novel.

    Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
    Chen J, Xu K, Zhang X, Pan Z, Dong B, Li Y., Free PMC Article

    Severe RS1 missense changes were associated with a lower ERG b/a ratio than were mild changes in X-linked retinoschisis suggesting the effect of the mutations on protein structure influenced the retinal dysfunction.

    Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
    Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE., Free PMC Article

    Two novel exonic deletions within the RS1 gene locus, are reported.

    Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.
    D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X., Free PMC Article

    There is profound phenotypic variability in patients with XLRS. Nonsense, splice-site, or frame-shifting mutations in RS1 consistently caused electronegative bright-flash ERG, delayed flicker response, and abnormal PERG

    A phenotype-genotype correlation study of X-linked retinoschisis.
    Vincent A, Robson AG, Neveu MM, Wright GA, Moore AT, Webster AR, Holder GE.

    Four novel RS1 gene mutations have been described in male Polish patients with X-linked juvenile retinoschisis.

    Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.
    Skorczyk A, Krawczyński MR., Free PMC Article

    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

    In silico investigation of the disease-associated retinoschisin C110Y and C219G mutants.
    Wu JW, Liu HL.

    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.

    Thirty-two years follow-up of X-linked juvenile retinoschisis in a Chinese patient with RS1 mutation.
    Xu F, Sui R, Dong F.

    Ten hemizygous mutations in RS1 were detected in patients from 14 of the 20 families with retinoschisis.

    Novel RS1 mutations associated with X-linked juvenile retinoschisis.
    Yi J, Li S, Jia X, Xiao X, Wang P, Guo X, Zhang Q., Free PMC Article

    Loss of RS1 due to mutations in the X-linked retinoschsis gene leads to splitting within the retinal layers.

    Biology of retinoschisin.
    Vijayasarathy C, Ziccardi L, Sieving PA., Free PMC Article

    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.

    Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.
    Duncan JL, Ratnam K, Birch DG, Sundquist SM, Lucero AS, Zhang Y, Meltzer M, Smaoui N, Roorda A., Free PMC Article

    RS1 mutation putative severity and age both had significant effects on retinal function in X-linked retinoschisis only in the severe mutation group, as judged by electroretinography analysis of the b-wave amplitude and the b/a-ratio

    X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.
    Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA., Free PMC Article

    Data suggest that retinoschisin secretion is regulated by the F-actin cytoskeleton, that cGMP or inhibition of ROCK alters F-actin structure enhancing the secretion, and that the microtubule cytoskeleton is also involved in this process.

    Regulation of retinoschisin secretion in Weri-Rb1 cells by the F-actin and microtubule cytoskeleton.
    Kitamura E, Gribanova YE, Farber DB., Free PMC Article

    Two novel mutations (W112X and S134P) and three previously identified missense mutations (R102Q, R200H, and R213W) were found.

    Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.
    Xu F, Xiang H, Jiang R, Dong F, Sui R.

    Retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis, membrane association is severely impaired in the absence of ATP1A3 and ATP1B2.

    The Na/K-ATPase is obligatory for membrane anchorage of retinoschisin, the protein involved in the pathogenesis of X-linked juvenile retinoschisis.
    Friedrich U, Stöhr H, Hilfinger D, Loenhardt T, Schachner M, Langmann T, Weber BH.

    analyzed the biochemical consequences of several RS1 signal-sequence mutants (c.1A>T, c.35T>A, c.38T>C, and c.52G>A) in X-linked retinoschisis disease

    Molecular mechanisms leading to null-protein product from retinoschisin (RS1) signal-sequence mutants in X-linked retinoschisis (XLRS) disease.
    Vijayasarathy C, Sui R, Zeng Y, Yang G, Xu F, Caruso RC, Lewis RA, Ziccardi L, Sieving PA., Free PMC Article

    Observational study of genetic testing. (HuGE Navigator)

    Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
    Booij JC, Bakker A, Kulumbetova J, Moutaoukil Y, Smeets B, Verheij J, Kroes HY, Klaver CC, van Schooneveld M, Bergen AA, Florijn RJ.

    The R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family.

    R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family.
    Xu J, Gu H, Ma K, Liu X, Snellingen T, Sun E, Wang N, Liu N., Free PMC Article

    Clinical follow-up of ten young XLRS (X-linked retinoschisis) patients with a typical congenital retinoschisis phenotype revealed no significant decline in retinal function during this time period.

    Long-term 12 year follow-up of X-linked congenital retinoschisis.
    Kjellström S, Vijayasarathy C, Ponjavic V, Sieving PA, Andréasson S., Free PMC Article

    A novel p.D126G mutation appeared to be associated with a severe phenotype with vitreous hemorrhage developing in infancy.

    Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis.
    Atchaneeyasakul LO, Trinavarat A, Pituksung A, Jinda W, Thongnoppakhun W, Limwongse C.

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