|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we present the results of a search for a region that exhibits linkage disequilibrium with the disorder, under the assumption that identification of such a region may provide an alternative method of narrowing down the location of WRN, the gene responsible for WS.
|
8037212 |
1994 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recombination events were detected between WRN and the HRG and FGFR1 genes, excluding them as candidates for the WRN gene.
|
8325642 |
1993 |
|
Werner Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The gene responsible for WS (known as WRN) was identified by positional cloning.
|
8602509 |
1996 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
The gene responsible for WS (known as WRN) was identified by positional cloning.
|
8602509 |
1996 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The gene responsible for WS (known as WRN) was identified by positional cloning.
|
8602509 |
1996 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The gene responsible for WS (known as WRN) was identified by positional cloning.
|
8602509 |
1996 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The gene responsible for WS (known as WRN) was identified by positional cloning.
|
8602509 |
1996 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells.
|
8641691 |
1996 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Analysis of these markers in Werner syndrome subjects demonstrates that the candidate WRN gene is in a region of linkage disequilibrium.
|
8812476 |
1996 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The Saccharomyces cerevisiae SGS1 gene is homologous to Escherichia coli RecQ and the human BLM and WRN proteins that are defective in the cancer-prone disorder Bloom's syndrome and the premature aging disorder Werner's syndrome, respectively.
|
8913739 |
1996 |
|
Werner Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Homozygous and compound heterozygous mutations at the Werner syndrome locus.
|
8968742 |
1996 |
|
Werner Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.
|
9012406 |
1997 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These results confirm that mutations in the WRN gene are responsible for WS.
|
9012406 |
1997 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Analysis of helicase gene mutations in Japanese Werner's syndrome patients.
|
9048918 |
1997 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The correlation between mutations in the Werner's syndrome (WRN) gene and the haplotypes of surrounding markers was studied in Japanese patients.
|
9225981 |
1997 |
|
Werner Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population.
|
9225981 |
1997 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in WRN result in Werner's syndrome, a disease with symptoms resembling premature aging.
|
9271578 |
1997 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Second, the monitoring of the telomere length of both normal and WRN cell strains during the culture period suggests that the WRN gene mutation causes abnormal dynamics of the telomere: (1) a significant proportion of WRN cell strains showed drastic shortening or lengthening of telomere lengths during cell passages compared with normal cell strains, and (2) WRN cell strains terminated their life-span at a wide range of telomere length (between 3.5 and 18.5 Kbp), whereas normal cell strains terminated within a narrow telomere length range (between 5.5 and 9 Kbp).
|
9365237 |
1997 |
|
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 |
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 |
PosttranslationalModification
|
disease |
BEFREE |
The activity of the WRN promoter was dramatically reduced in cells from WS patients.
|
9671808 |
1998 |
|
Werner Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Moreover, it is a homologue of the human Werner syndrome gene product WRN, a protein associated with premature ageing in humans.
|
9697700 |
1998 |
|
Werner Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Our results suggest that the hypersensitivity to 4NQO and the extensive deletion mutations observed in the WS cell line are caused by a defect that is secondary to the WRN gene mutation, possibly a repair gene defect that controls the phenotypes of hypersensitivity to carcinogen(s) and/or the extensive deletion mutations.
|
9823331 |
1998 |
|
Werner Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The association of an exonuclease with WRN distinguishes it from other RecQ homologs and raises the possibility that the distinct phenotypic characteristics of WS may be due in part to a defective exonuclease.
|
9852073 |
1998 |
|
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 |