|
rs121908448
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Inhibition of endogenous WRN, through co-expression of WRN(K577M), diminishes recruitment of p300/CREB-binding protein-associated factor (PCAF) and positive transcription elongation factor b (P-TEFb) to Tat/transactivation response-RNA complexes, and immortalized WRN(-/-) WS fibroblasts exhibit comparable defects in recruitment of PCAF and P-TEFb to the HIV-1 LTR.
|
17317667 |
2007 |
|
rs121908448
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Primary tail fibroblast cultures from K577M-WRN mice showed three characteristics of WS cells: hypersensitivity to 4-nitroquinoline-1-oxide (4NQO), reduced replicative potential, and reduced expression of the endogenous WRN protein.
|
10628995 |
2000 |
|
rs747319628
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A WS patient with an Arg987Ter mutation has been previously reported in Switzerland, the present case is the first to be identified in Asia.
|
22188495 |
2012 |
|
rs2230009
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Five SNPs (α-ʟ-iduronidase rs3755955, C7orf58 rs190543052, homeobox C4 rs75256744, G patch domain-containing gene 1 rs2287679, and Werner syndrome rs2230009) showed a significant association (P < 0.05) with the prevalence of femoral fracture in 924 male subjects.
|
26462479 |
2016 |
|
rs2230009
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A missense single nucleotide polymorphism, V114I of the Werner syndrome gene, is associated with risk of osteoporosis and femoral fracture in the Japanese population.
|
25637295 |
2015 |
|
rs2230009
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Interestingly, a WRN cDNA expression vector bearing a valine at position 114 instead of isoleucine significantly affected cholesterol efflux in WS fibroblasts.
|
23523974 |
2013 |
|
rs3087425
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
|
28276523 |
2017 |
|
rs1346044
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of the rs1346044 Polymorphism of the Werner Syndrome Gene RECQL2 with Increased Risk and Premature Onset of Breast Cancer.
|
26690424 |
2015 |
|
rs1304645785
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we have characterized the G574R missense mutation, which was recently identified in a WS patient.
|
23583337 |
2013 |
|
rs188554751
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this case-control study of 1,004 breast cancer cases and 1,008 controls, we tested the hypothesis that non-conservative amino acid exchanges in WRN (leu1074Phe), BLM (Met298Thr) and BRCA1 (Pro871Leu) are independently or jointly associated with the risk of breast cancer in Chinese women.
|
19205873 |
2009 |