Lessons from human progeroid syndromes

Nature

Volumn 408, Issue 6809, 2000, Pages 263-266

  Martin, George M ^a   Oshima, Junko ^a  

^a UNIVERSITY OF WASHINGTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT;

AGING; CARBOHYDRATE METABOLISM; GENE MUTATION; GENETIC ASSOCIATION; GENETIC STABILITY; HUMAN; LIPID METABOLISM; METABOLIC DISORDER; MYOTONIC DYSTROPHY; NONHUMAN; PRIORITY JOURNAL; PROGERIA; REVIEW; WERNER SYNDROME;

AGING; ANIMALS; COCKAYNE SYNDROME; HUMANS;

EID: 0034626770     PISSN: 00280836     EISSN: None     Source Type: Journal    
DOI: 10.1038/35041705     Document Type: Review

References (58)

1. In vivo human somatic mutation: Frequency and spectrum with age
2. Somatic mutations are frequent and increase with age in human kidney epithelial cells
3. Spontaneous mutation in man
4. Positional cloning of the Werner's syndrome gene
5. Mutator phenotype of Werner syndrome is characterized by extensive deletions
6. Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process
7. Excess of rare cancers in Werner syndrome (adult progeria)
8. Endothelial dysfunction, hemodynamic forces, and atherosclerosis
9. Replicative life-span of cultivated human cells. Effects of donor's age, tissue, and genotype
10. An apoptosis-inducing genotoxin differentiates heterozygotic carriers for Werner helicase mutations from wild-type and homozygous mutants
11. Polymorphisms at the Werner locus: I. Newly identified polymorphisms, ethnic variability of 1367Cys/Arg, and its stability in a population of Finnish centenarians
12. Association of a polymorphic variant of the Werner helicase gene with myocardial infarction in a Japanese population
13. The premature aging syndrome protein, WRN, is a 3' 5' exonuclease
14. Werner syndrome protein. I. DNA helicase and dna exonuclease reside on the same polypeptide
15. Werner syndrome helicase contains a 5' 3' exonuclease activity that digests DNA and RNA strands in DNA/DNA and RNA/DNA duplexes dependent on unwinding
16. Impaired S-phase transit of Werner syndrome cells expressed in lymphoblastoid cell lines
17. Replication focus-forming activity 1 and the Werner syndrome gene product
18. The Werner syndrome gene product co-purifies with the DNA replication complex and interacts with PCNA and topoisomerase I
19. The Werner syndrome protein is a DNA helicase
20. Ku complex interacts with and stimulates the Werner protein
21. Functional interaction between Ku and the Werner syndrome protein in DNA end processing
22. The Werner syndrome protein is involved in RNA polymerase II transcription
23. Physical and functional interaction between p53 and the Werner's syndrome protein
24. RecQ DNA helicase is a suppressor of illegitimate recombination in Escherichia coli
25. Bloom's and Werner's syndrome genes suppress hyperrecombination in yeast sgs 1 mutant: Implication for genomic instability in human diseases
26. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
27. Myotonic dystrophy: The role of the CUG triplet repeats in splicing of a novel DMPK exon and altered cytoplasmic DMPK mRNA isoform ratios
28. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
29. Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
30. Mice deficient in Six5 develop cataracts: Implications for myotonic dystrophy
31. Role of glycation in aging
32. Generalized lipodystrophy, congenital and acquired (lipoatrophy)
33. Peculiar distribution of adipose tissue in patients with congenital generalized lipodystrophy
34. Severe islet amyloidosis in congenital generalized llpodystrophy
35. Radiological features in generalized lipodystrophy
36. Mutation of the mouse klotho gene leads to a syndrome resembling ageing
37. New mice for old questions
38. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34
39. Progeria: A human-disease model of accelerated ageing
40. No detectable mutations at Werner helicase locus in progeria
41. Mitotic misregulation and human ageing
42. Telomere length predicts replicative capacity of human fibroblasts
43. Reduced DNA repair in progeria cells and effects of gamma-ray irradiation on UV-induced unscheduled DNA synthesis in normal and progeria cells
44. Oxidative stress, caloric restriction, and aging
45. Genetic analysis of aging: Role of oxidative damage and environmental stresses
46. Mutations in RECQL4 cause a subset of cases of Rothmund-Thomson syndrome
47. Rothmund-Thomson syndrome: Review of the world literature
48. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
49. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes
50. Cockayne syndrome: Review of 140 cases
51. A single ataxia telangiectasia gene with a product similar to PI-3 kinase
52. Ataxia-telangiectasia: An interdisciplinary approach to pathogenesis
53. Nibrin, a novel DNA double-strand break repair protein, is mutated in Nijmegen breakage syndrome
54. Nijmegen breakage syndrome