Property Summary

NCBI Gene PubMed Count 72
Grant Count 106
R01 Count 44
Funding $14,838,925.27
PubMed Score 308.03
PubTator Score 406.84

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
osteosarcoma -1.019 0.000
lung cancer -1.800 0.000
lung adenocarcinoma -1.500 0.000

Synonym

Accession O15537 Q0QD39
Symbols RS
XLRS1

Gene

RS1

PDB

3JD6  

Gene RIF (60)

PMID Text
26043410 A novel RS1 (304C > T) mutation in a Taiwanese family with X-linked retinoschisis.
25894957 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.
25799783 the disease and p.Arg197Cys mutation of RS1 gene was identified
25168411 We identified a novel causative mutation of RS1 in a Chinese family with X-linked juvenile retinoschisis.
25054456 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.
24529551 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.
24505212 Sequencing of the RS1 gene identified 16 mutations, nine of which were novel.
24227916 Two novel exonic deletions within the RS1 gene locus, are reported.
23847049 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.
23453514 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
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AA Sequence

MSRKIEGFLLLLLFGYEATLGLSSTEDEGEDPWYQKACKCDCQGGPNALWSAGATSLDCIPECPYHKPLG      1 - 70
FESGEVTPDQITCSNPEQYVGWYSSWTANKARLNSQGFGCAWLSKFQDSSQWLQIDLKEIKVISGILTQG     71 - 140
RCDIDEWMTKYSVQYRTDERLNWIYYKDQTGNNRVFYGNSDRTSTVQNLLRPPIISRFIRLIPLGWHVRI    141 - 210
AIRMELLECVSKCA                                                            211 - 224
//

Text Mined References (73)

PMID Year Title
26043410 2015 The gene mutation in a Taiwanese family with X-linked retinoschisis.
25894957 Clinical and molecular characterization of females affected by X-linked retinoschisis.
25799783 2014 X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene.
25168411 2014 A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.
25054456 2014 X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.
24529551 2015 A novel gene mutation in a family with X-linked retinoschisis.
24505212 2014 Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.
24227916 2013 Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.
23847049 2013 Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.
23453514 2013 A phenotype-genotype correlation study of X-linked retinoschisis.
More...