|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Of 129 index patients referred to our international registry for molecular diagnosis of Werner's syndrome, 26 (20%) had wildtype WRN coding regions and were categorised as having atypical Werner's syndrome on the basis of molecular criteria.
|
12927431 |
2003 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A genetic defect implicated in WS was mapped to the WRN locus.
|
10911957 |
2000 |
|
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 |
The SGS1 gene of the yeast Saccharomyces cerevisiae encodes a DNA helicase with homology to the human Bloom's syndrome gene BLM and the Werner's syndrome gene WRN.
|
10600744 |
1999 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Affected and unaffected members of a Caucasian family with Werner syndrome were analyzed for mutations in the recently described Werner syndrome (WRN) gene and for their relevance to phenotypic expression of chromosomal instability and x-ray hypersensitivity.
|
9450180 |
1998 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
We demonstrate here that the expression of the mutated WRN gene that produces nonsense mRNAs remains at low levels, resulting in the preferential expression of the intact WRN gene in the WS microcell hybrids.
|
11708785 |
2001 |
|
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 |
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 |
BLM- and WRN-bearing yeasts provide new useful models to investigate human BS and WS diseases.
|
9671747 |
1998 |
|
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 |
We recently discovered that cells from Werner syndrome patients displayed a deficiency in p53-mediated apoptosis and WRN binds to p53.
|
11399766 |
2001 |
|
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 |
Biomarker
|
disease |
BEFREE |
It is also of potential interest to measure WRN activities in WS patients.
|
18810497 |
2008 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
We prepared several monoclonal antibodies (mAbs) specific for the NH2- and COOH-terminal regions of the DNA helicase (WRN helicase) responsible for Werner's syndrome known as a premature aging disease.
|
9885239 |
1999 |
|
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 |
BLM and WRN, the products of the Bloom's and Werner's syndrome genes, are members of the RecQ family of DNA helicases.
|
11433031 |
2001 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of the RecQ DNA helicase WRN protein causes Werner syndrome, in which patients exhibit features of premature aging and increased cancer.
|
19812417 |
2009 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
The helicase activity of WRN, which is absent in the human progeroid Werner syndrome, is thought to counteract this genomic instability.
|
21285356 |
2011 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Extensive research over the last decade has revealed much about WRN biochemistry and the etiology of Werner syndrome.
|
16720342 |
2006 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The WRN gene defective in WS encodes a protein with both helicase and exonuclease activities that interacts with proteins implicated in DNA metabolism.
|
20157511 |
2009 |
|
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 |