WRN, WRN RecQ like helicase, 7486

N. diseases: 172; N. variants: 89
Disease: Werner Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0043119
Disease: Werner Syndrome
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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE WRNIP1 interacts with WRN helicase, which is defective in the premature aging disease Werner syndrome. 28118071 2017
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 CausalMutation disease CLINVAR WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations. 20443122 2010
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease LHGDN Werner syndrome protein contains three structure-specific DNA binding domains. 14534320 2003
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 CausalMutation disease CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514 2006
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease CLINVAR Werner syndrome and mutations of the WRN and LMNA genes in France. 16786514 2006
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease LHGDN Werner protein cooperates with the XRCC4-DNA ligase IV complex in end-processing. 18558713 2008
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE We therefore speculated that the WRN gene (encoding RECQL2, a DNA helicase), the germline mutation of which causes the progeroid disorder Werner syndrome, may be associated with breast tumorigenesis. 17301258 2007
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE We therefore examined WRN, a 3'-->5' exonuclease and helicase mutated in Werner syndrome, a disorder characterized by aberrant telomere maintenance, premature aging, chromosomal rearrangements, and predisposition to malignancy. 17015833 2006
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE We show that wild-type WRN protein physically associates with PCNA at physiological protein concentrations in normal cells, while no association is seen in cells from patients with WS. 12633936 2003
CUI: C0043119
Disease: Werner Syndrome
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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE We review the spectrum of WS-associated WRN mutations, the organization and potential functions of the WRN protein, and potential mechanistic links between the loss of WRN function and pathogenesis of the WS clinical and cellular phenotypes. 10220139 1999
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE We report on a familial case of atypical Werner syndrome (a progeroid syndrome with Werner syndrome phenotype but without typical RECQL2 mutation) presenting with acute ischemic cerebral disease or peripheral artery disease associated with diffuse atherosclerosis, attributable to transmission of a novel LMNA mutation. 19095983 2009
CUI: C0043119
Disease: Werner Syndrome
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
CUI: C0043119
Disease: Werner Syndrome
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
CUI: C0043119
Disease: Werner Syndrome
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
CUI: C0043119
Disease: Werner Syndrome
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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE We have identified a dense set of markers useful in association studies involving the Werner syndrome (WRN) gene. 11161804 2001
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 AlteredExpression disease BEFREE We have assessed the role of the WRN gene in transcription by analyzing the efficiency of basal transcription in WS lymphoblastoid cell lines that carry homozygous WRN mutations. 10436020 1999
CUI: C0043119
Disease: Werner Syndrome
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
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE We considered cells from patients with Hutchinson-Gilford progeria syndrome (HGPS) with an altered nucleoskeletal protein; a mouse model of XFE progeroid syndrome caused by a deficiency of ERCC1-XPF DNA repair nuclease; and patients with Werner syndrome (WS) lacking a functional WRN exonuclease and helicase protein. 22127259 2012
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease BEFREE We conclude that, despite evidence of accelerated senescence in WS cells, there is no evidence that the absence of active WRN acts as a barrier to neoplastic transformation. 20043098 2010
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE We asked whether spontaneous sarcomas, not known to be associated with WS, also harbor mutations or unreported single nucleotide polymorphisms (SNPs) in WRN. 19824023 2010
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND Unusual features of thyroid carcinomas in Japanese patients with Werner syndrome and possible genotype-phenotype relations to cell type and race. 10440702 1999
CUI: C0043119
Disease: Werner Syndrome
Werner Syndrome 		1.000 GeneticVariation disease BEFREE To investigate whether the WRN gene affects the course of aging in non-Werner syndrome individuals, we performed association studies analyzing several single nucleotide polymorphisms (SNPs) in the WRN locus. 16804003 2006