Meningioma arising in Werner syndrome confirmed by mutation analysis

Y Nakamura, T Shimizu, Y Ohigashi, N Itou… - Journal of clinical …, 2005 - Elsevier
mutation analysis. We present the first reported case of meningioma in a patient with Werner
syndrome and a confirmed major mutation. … meningioma associated with Werner syndrome. …

Mutations in the consensus helicase domains of the Werner syndrome gene. Werner's Syndrome Collaborative Group.

C Yu, J Oshima, EM Wijsman, J Nakura… - American journal of …, 1997 - ncbi.nlm.nih.gov
… Gray lines indicate frameshift mutations causing deletion of exon(s). D, Predicted proteins. …
produced from mutations in the WRN gene. Mutation Analysis Mutations were detected by …

The spectrum of WRN mutations in Werner syndrome patients

S Huang, L Lee, NB Hanson, C Lenaerts… - … mutation, 2006 - Wiley Online Library
… Samples were collected from individuals with Werner syndrome participating in our International
Registry of Werner Syndrome (www.wernersyndrome.org), supplemented by materials …

Mutation and haplotype analyses of the Werner's syndrome gene based on its genomic structure: genetic epidemiology in the Japanese population

T Matsumoto, O Imamura, Y Yamabe, J Kuromitsu… - Human genetics, 1997 - Springer
… and they described four mutations, designated mutations 1–4… population analyzed here, we
previously observed mutations … Toward localization of the Werner syndrome gene by linkage …

Werner syndrome: characterization of mutations in the WRN gene in an affected family

C Meisslitzer, W Ruppitsch… - European Journal of …, 1997 - karger.com
… the pheno typic expression of Werner syndrome features in homozy gotes … mutations in the
protein, we characterized the mutations in the WRN gene in a Caucasian family with Werner

Recent Trends in WRN Gene Mutation Patterns in Individuals with Werner Syndrome

M Yamaga, M Takemoto… - Journal of the …, 2017 - Wiley Online Library
Werner syndrome (WS), also known as adult progeroid syndrome, is an autosomal-… In
this analysis, the clinical signs and symptoms listed in the diagnostic criteria were compared. …

Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions

J Oshima, JM Sidorova, RJ Monnat Jr - Ageing research reviews, 2017 - Elsevier
syndromes. One prominent example is our work to better define patients with “atypical Werner
syndrome (… , but were found on subsequent analysis to lack WRN mutations. As of 2015, …

Functional deficit associated with a missense Werner syndrome mutation

T Tadokoro, I Rybanska-Spaeder, T Kulikowicz… - DNA repair, 2013 - Elsevier
mutation, which was recently identified in a WS patient. Our biochemical experiments with
purified mutant recombinant WRN protein showed that the G574R mutationWerner syndrome

Werner syndrome

L Chen, J Oshima - BioMed Research International, 2002 - Wiley Online Library
Mutation and haplotype analyses of the Werner’s syndrome gene based on its genomic
structure: genetic epidemiology in the Japanese population. Hum Genet. 1997;100(1):123– 130. …

Analysis of helicase gene mutations in Japanese Werner's syndrome patients

M Goto, O Imamura, J Kuromitsu, T Matsumoto… - Human genetics, 1997 - Springer
mutations was studied in 89 Japanese Werner’s syndrome (WRN) patients by examining the
previously described mutations 1– 4 as well as a new mutation … the Werner syndrome gene …