|
rs61752067
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The newly derived CSUASOi001-A iPS cell line harboring the c.304C > T mutation in the RS1 gene (p.R102W) provides a useful resource to investigate pathogenic mechanisms in XLRS.
|
31141763 |
2019 |
|
rs61752067
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our results show a RS1 (304C > T) mutation in a Taiwanese family with XLRS.
|
26043410 |
2015 |
|
rs281865365
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Our data show that the R213W mutation in RS1 causes various severities of retinoschisis in a large Chinese family, providing further evidence for X-linked juvenile retinoschisis phenotypic variability.
|
20806044 |
2010 |
|
rs104894928
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We determined the carrier status for the 214G > A mutation of the RS1 gene in 202 females belonging to a large RS founder pedigree.
|
11246454 |
1999 |
|
rs104894928
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The mutations in exon 4, 214G > A and 221G > T, are accountable for RS in Western Finland.
|
10234514 |
1999 |
|
rs281865365
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave.
|
10458173 |
1999 |
|
rs61752072
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While most of the XLRS associated mutations strongly interfere with cellular secretion, this is not true for mutants RS1-F108C, -R141G, -R141H, -R182C, -H207Q and -R209H.
|
30040949 |
2018 |
|
rs62645889
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To further investigate the role for retinoschisin in MAP kinase regulation, we exposed Y-79 cells and murine Rs1h<sup>-/Y</sup> retinae to recombinant retinoschisin and the XLRS-associated mutant RS1-C59S.
|
27995734 |
2017 |
|
rs281865360
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The H207Q XLRS-associated mutation was found in the interface between octamers and destabilized both monomeric and octameric retinoschisin.
|
27798099 |
2016 |
|
rs281865362
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations.
|
17615541 |
2007 |
|
rs281865364
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations.
|
17615541 |
2007 |
|
rs61752068
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Severe XLRS phenotypes are associated with the frameshift mutation 26 del T, splice donor site mutation (IVS1+2T to C), and Arg102Gln, Asp145His, Arg209His, and Arg213Gln mutations.
|
17615541 |
2007 |
|
rs61752144
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An unusual X-linked retinoschisis phenotype and biochemical characterization of the W112C RS1 mutation.
|
16884758 |
2006 |
|
rs104894930
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Identification of XLRS1 gene mutation (608C > T) in a Portuguese family with juvenile retinoschisis.
|
16167295 |
2005 |
|
rs61753174
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene.
|
12457918 |
2003 |
|
rs104894933
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The mutations in exon 4, 214G > A and 221G > T, are accountable for RS in Western Finland.
|
10234514 |
1999 |
|
rs104894934
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A third mutation in exon 4, 325G > C, gives rise to RS in Northern Finland.
|
10234514 |
1999 |
|
rs281865354
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
|
10079181 |
1999 |
|
rs61752061
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis.
|
10079181 |
1999 |