Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome (i.e., adult progeria) is a rare autosomal recessive disorder caused by mutations of the WRN gene, which is characterized by the premature appearance of features associated with normal aging and cancer predisposition.
|
27931782 |
2017 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We have recently developed a novel human WS model using WRN-deficient human mesenchymal stem cells (MSCs).
|
27271327 |
2016 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In contrast, loss-of-function mutations in Werner syndrome ATP-dependent helicase (WRN) lead to Werner syndrome.
|
26948039 |
2016 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Many features seen in WS can be explained by the diverse functions of WRN in DNA metabolism.
|
27922005 |
2016 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Human WRN, a RecQ helicase encoded by the Werner syndrome gene, is implicated in genome maintenance, including replication, recombination, excision repair and DNA damage response.
|
26808708 |
2016 |
Werner Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Our results identify the human WRN RECQ protein as a G4 helicase that modulates gene expression in G4-dependent fashion at many chromosomal sites and provide several new and unexpected mechanistic insights into WS disease pathogenesis.
|
26984941 |
2016 |
Werner Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Clinical utility gene card for: Werner Syndrome--Update 2014.
|
25182132 |
2015 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Functional mutations in WRN cause Werner syndrome, a human autosomal recessive disease characterized by premature aging and associated with genetic instability and increased cancer risk.
|
26241669 |
2015 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Telomeric abnormalities caused by loss of function of the RecQ helicase WRN are linked to the multiple premature ageing phenotypes that characterize Werner syndrome.
|
26420422 |
2015 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome (WS) is a premature aging disorder caused by WRN protein deficiency.
|
25931448 |
2015 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inactivating mutations in RECQL2 lead to Werner syndrome, a rare autosomal disease associated with premature aging and an increased susceptibility to multiple cancer types.
|
26690424 |
2015 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Thus, immunohistochemical detection of WRN in erythroblasts from bone marrow paraffin sections could be useful in screening of WS cases and worthy of further molecular confirmation.
|
25503078 |
2015 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, the majority of wide and complex pathological phenotypes of WS may be explained in a unified manner by the cascade beginning with telomere dysfunction initiated by WRN gene mutation.
|
24356923 |
2014 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Cellular starvation autophagy in WS cells is restored after transfection with full length WRN.
|
25257404 |
2014 |
Werner Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Reprogramming suppresses premature senescence phenotypes of Werner syndrome cells and maintains chromosomal stability over long-term culture.
|
25390333 |
2014 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In the acquired forms, genes such as LMNA, PPARG, CIDEC (cell-death-inducing DNA fragmentation factor a-like effector c) and PLIN1 are heavily involved in familial partial lipodystrophy (FPLD) type 2 (also known as the Dunnigan-Variety) and WRN along with RECQL5 in Werner Syndrome (WS).
|
24152769 |
2014 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
After long-term cultures, WS iPSCs exhibited stable undifferentiated states and differentiation capacity, and premature upregulation of senescence-associated genes in WS cells was completely suppressed in WS iPSCs despite WRN deficiency.
|
25390333 |
2014 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome (WS) is a rare autosomal recessive disorder caused by mutations in the WRN gene.
|
23583337 |
2013 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Mutations in the RecQ helicases BLM and WRN are linked to the cancer-prone disorder Bloom's syndrome and premature aging condition Werner syndrome, respectively.
|
23161009 |
2013 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We show here that lipodystrophy and extreme insulin resistance can also reveal the adult progeria Werner syndrome linked to mutations in WRN, encoding a RecQ DNA helicase.
|
23849162 |
2013 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
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 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome is genetically linked to mutations in WRN that encodes a DNA helicase-nuclease believed to operate at stalled replication forks.
|
23867477 |
2013 |
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Although WS has been characterized by a variety of clinical manifestations mimicking premature aging, the recent longevity and delayed age-associated manifestations observed both from Japanese WS and general population may suggest a common environmental effect on some gene(s) other than WRN and may give us a newer pathophysiological look at WS and also natural aging through the molecular dysfunction of WRN.
|
23524889 |
2013 |
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome is caused by mutations in the DNA repair Werner helicase (WRN) gene and characterized by accelerated aging including cataracts.
|
23334603 |
2013 |
Werner Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
A case of Werner syndrome without metabolic abnormality: implications for the early pathophysiology.
|
22188495 |
2012 |