Literature DB >> 2303247

Increased frequency of 6-thioguanine-resistant peripheral blood lymphocytes in Werner syndrome patients.

K Fukuchi1, K Tanaka, Y Kumahara, K Marumo, M B Pride, G M Martin, R J Monnat.   

Abstract

The frequency of spontaneous 6-thioguanine (TG)-resistant peripheral blood lymphocytes in five unrelated Werner syndrome (WS) patients was determined using an autoradiographic labeling assay. The average frequency of TG-resistant lymphocytes was eightfold higher in WS patients than in sex- and age-matched normal control donors. This finding and previous identification of increased spontaneous chromosomal rearrangements and deletions in WS cells or cell lines suggest that WS is a human genomic instability or mutator syndrome.

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Year:  1990        PMID： 2303247     DOI： 10.1007/bf00200569

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  32 in total

1.  Lesch-Nyhan syndrome: absence of the mutant enzyme in erythrocytes of a heterozygote for both normal and mutant hypoxanthine-guanine phosphoribosyl transferase.

Authors:  J A McDonald; W N Kelley
Journal:  Biochem Genet       Date:  1972-02       Impact factor: 1.890

2.  Premature ageing and occurance of altered enzyme in Werner's syndrome fibroblasts.

Authors:  R Holliday; J S Porterfield; D D Gibbs
Journal:  Nature       Date:  1974-04-26       Impact factor: 49.962

3.  Confidence intervals and sample size calculations to compare variant frequencies.

Authors:  D Sylwester; R J Albertini
Journal:  Environ Mutagen       Date:  1985

4.  Elevated frequencies of 6-thioguanine-resistant lymphocytes in multiple sclerosis patients treated with cyclophosphamide: a prospective study.

Authors:  M M Ammenheuser; J B Ward; E B Whorton; J M Killian; M S Legator
Journal:  Mutat Res       Date:  1988-03       Impact factor: 2.433

5.  Molecular analyses of in vivo hprt mutations in human T-lymphocytes. I. Studies of low frequency 'spontaneous' mutants by Southern blots.

Authors:  J A Nicklas; T C Hunter; L M Sullivan; J K Berman; J P O'Neill; R J Albertini
Journal:  Mutagenesis       Date:  1987-09       Impact factor: 3.000

6.  Molecular analyses of in vivo hypoxanthine-guanine phosphoribosyltransferase mutations in human T-lymphocytes: II. Demonstration of a clonal amplification of hprt mutant T-lymphocytes in vivo.

Authors:  J A Nicklas; J P O'Neill; L M Sullivan; T C Hunter; M Allegretta; B F Chastenay; B L Libbus; R J Albertini
Journal:  Environ Mol Mutagen       Date:  1988       Impact factor: 3.216

7.  Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning.

Authors:  J L Dempsey; A A Morley; R S Seshadri; B T Emmerson; R Gordon; C I Bhagat
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

8.  Genetic effects on the longevity of cultured human fibroblasts. I. Werner's syndrome.

Authors:  K V Thompson; R Holliday
Journal:  Gerontology       Date:  1983       Impact factor: 5.140

Review 9.  The molecular genetics of cancer: 1988.

Authors:  J M Bishop
Journal:  Leukemia       Date:  1988-04       Impact factor: 11.528

10.  Mutator phenotype of Werner syndrome is characterized by extensive deletions.

Authors:  K Fukuchi; G M Martin; R J Monnat
Journal:  Proc Natl Acad Sci U S A       Date:  1989-08       Impact factor: 11.205
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  23 in total

1.  Mutations in the WRN gene in mice accelerate mortality in a p53-null background.

Authors:  D B Lombard; C Beard; B Johnson; R A Marciniak; J Dausman; R Bronson; J E Buhlmann; R Lipman; R Curry; A Sharpe; R Jaenisch; L Guarente
Journal:  Mol Cell Biol       Date:  2000-05       Impact factor: 4.272

2.  Accelerated loss of telomeric repeats may not explain accelerated replicative decline of Werner syndrome cells.

Authors:  V P Schulz; V A Zakian; C E Ogburn; J McKay; A A Jarzebowicz; S D Edland; G M Martin
Journal:  Hum Genet       Date:  1996-06       Impact factor: 4.132

Review 3.  Progeroid syndromes: probing the molecular basis of aging?

Authors:  D Kipling; R G Faragher
Journal:  Mol Pathol       Date:  1997-10

Review 4.  The Werner mutation: does it lead to a "public" or "private" mechanism of aging?

Authors:  G M Martin
Journal:  Mol Med       Date:  1997-06       Impact factor: 6.354

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

Authors:  C E Yu; J Oshima; E M Wijsman; J Nakura; T Miki; C Piussan; S Matthews; Y H Fu; J Mulligan; G M Martin; G D Schellenberg
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

Review 6.  Review of How Genetic Research on Segmental Progeroid Syndromes Has Documented Genomic Instability as a Hallmark of Aging But Let Us Now Pursue Antigeroid Syndromes!

Authors:  George M Martin; Fuki M Hisama; Junko Oshima
Journal:  J Gerontol A Biol Sci Med Sci       Date:  2021-01-18       Impact factor: 6.053

Review 7.  Genetics and the pathobiology of ageing.

Authors:  G M Martin
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  1997-12-29       Impact factor: 6.237

8.  Effects of mutations in DNA repair genes on formation of ribosomal DNA circles and life span in Saccharomyces cerevisiae.

Authors:  P U Park; P A Defossez; L Guarente
Journal:  Mol Cell Biol       Date:  1999-05       Impact factor: 4.272

9.  Evidence against DNA polymerase beta as a candidate gene for Werner syndrome.

Authors:  M Chang; G C Burmer; J Sweasy; L A Loeb; S Edelhoff; C M Disteche; C E Yu; L Anderson; J Oshima; J Nakura
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

Review 10.  From old organisms to new molecules: integrative biology and therapeutic targets in accelerated human ageing.

Authors:  L S Cox; R G A Faragher
Journal:  Cell Mol Life Sci       Date:  2007-10       Impact factor: 9.261
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