|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in RecQ helicases result in Bloom Syndrome (BLM mutation), Werner Syndrome (WRN mutation), Rothmund-Thomson Syndrome (RECQL4 mutation), and other genetic diseases, including cancer.
|
31772289 |
2019 |
|
Werner Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Further study is needed to elucidate the precise role of retinal WRN protein expression in the development of CMO in those with Werner syndrome.
|
29705892 |
2019 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here, we summarize the latest progress of the molecular understandings of WRN protein, highlight the advantages of using different WS model systems, including Caenorhabditis elegans, Drosophila melanogaster and induced pluripotent stem cell (iPSC) systems.
|
30666569 |
2019 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gene responsible for WS is the WRN gene.
|
31235391 |
2019 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome is a rare autosomal recessive disorder where Werner (WRN) gene is mutated.
|
31085421 |
2019 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Possible WS was considered and both WRN and LMNA genes were analyzed.
|
31270292 |
2019 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We propose that transcriptional misregulation of downstream genes by the absence of WRN protein contributes to the variable premature aging phenotypes of WS.
|
31259468 |
2019 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome (WRN) gene variants and their association with altered function and age-associated diseases.
|
29146545 |
2018 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The ocular and systemic findings in this patient in combination with the homozygous WRN mutation indicated the definitive Werner's syndrome diagnosis.
|
30107835 |
2018 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, due to mutations in WRN helicase genes in Werner syndrome, G4 motifs are likely to be key elements in the expression of premature aging phenotypes.
|
29412869 |
2018 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Augmenting the dose of ascorbate reversed the activation of this pathway to WT levels rendering this pathway a potential therapeutic target in WS.-Aumailley, L., Dubois, M. J., Brennan, T. A., Garand, C., Paquet, E. R., Pignolo, R. J., Marette, A., Lebel, M. Serum vitamin C levels modulate the lifespan and endoplasmic reticulum stress response pathways in mice synthesizing a nonfunctional mutant WRN protein.
|
29452565 |
2018 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, by gene editing we created isogenic human embryonic stem cells (ESCs) with heterozygous (G608G/+) or homozygous (G608G/G608G) LMNA mutation and biallelic WRN knockout, for modeling HGPS and WS pathogenesis, respectively.
|
29476423 |
2018 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The induced pluripotent stem cell (iPSC) technology has provided a unique opportunity to develop disease-specific models and personalized treatment for genetic disorders, and is well suitable for the study of Werner syndrome (WS), an autosomal recessive disease with adult onset of premature aging caused by mutations in the RecQ like helicase (WRN) gene.
|
30206203 |
2018 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Yet, little is known about the impact of WRN mutations on the central nervous system in both humans and mouse models of WS.
|
29908963 |
2018 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype.
|
28276523 |
2017 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous studies have demonstrated that mutations in the Werner syndrome RecQ like helicase gene (WRN) may contribute to WS.
|
28440507 |
2017 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
WRNIP1 interacts with WRN helicase, which is defective in the premature aging disease Werner syndrome.
|
28118071 |
2017 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
A role of the WRN protein in telomere maintenance could explain many of the WS phenotypes.
|
26993153 |
2017 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that RECQL5 associates longer at laser-induced DNA double-strand breaks in the absence of Werner syndrome (WRN) protein, and that it interacts physically and functionally with WRN both in vivo and in vitro.
|
28180303 |
2017 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome (WS) is a rare inheritable progeroid syndrome caused by a mutation in the WRN gene.
|
28738022 |
2017 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline and somatic genetics of osteosarcoma - connecting aetiology, biology and therapy.
|
28338660 |
2017 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A long-term follow-up study on WRN homozygotes and compound heterozygotes will allow the relationship between WRN genotype and clinical severity of WS to be evaluated in the future.
|
28394436 |
2017 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although it is well established that autosomal recessive mutations in the WRN gene is responsible for Werner syndrome, the molecular alterations that lead to disease phenotype remain still unidentified.
|
28861129 |
2017 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
In humans, mutations in three RecQ genes - BLM, WRN, and RECQL4 - give rise to Bloom's syndrome (BS), Werner syndrome (WS), and Rothmund-Thomson syndrome (RTS), respectively.
|
27238185 |
2017 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Werner syndrome (WS) is a progeroid-like syndrome caused by WRN gene mutations.
|
28158503 |
2017 |