Mutator phenotype of Werner syndrome is characterized by extensive deletions.
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چکیده
منابع مشابه
Mutator phenotype of Werner syndrome is characterized by extensive deletions.
Werner syndrome (WS) is a rare autosomal-recessive disorder characterized by the premature appearance of features of normal aging in young adults. The extensive phenotypic overlap between WS and normal aging suggests they may also share pathogenetic mechanisms. We reported previously that somatic cells from WS patients demonstrate a propensity to develop chromosomal aberrations, including trans...
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Deletions of the long arm of chromosome 11 (11q) are one of the most frequent structural chromosome aberrations in various types of lymphoproliferative disorders. However, in most conventional chromosome banding studies of B-cell chronic lymphocytic leukemia (B-CLL), 11q deletions were not identified as a frequent aberration. The objective of this study was to analyze the frequency and clinical...
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Werner Syndrome (WS) is an autosomal recessive disease that leads to the premature manifestation of clinical symptoms associated with normal aging. Clinical symptoms include: short stature, graying/loss of hair, osteoporosis, cataracts, atherosclerosis, type II diabetes, hypogonadism, skin ulcers, reduced fertility, and high incidence of malignant neoplasms. They appear in one’s 20’s and 30’s, ...
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Werner syndrome is a premature aging disease caused by the mutation in the WRN gene. The cloning and characterization of the WRN gene and its product allows investigators to study the disease and the human aging process at molecular level. This review summarizes the recent progresses on various aspects of the WRN research including functional analysis of the protein, interactive cloning, comple...
متن کاملWerner syndrome protein suppresses the formation of large deletions during the replication of human telomeric sequences.
Werner syndrome (WS) is a disorder characterized by features of premature aging and increased cancer that is caused by loss of the RecQ helicase WRN. Telomeres consisting of duplex TTAGGG repeats in humans protect chromosome ends and sustain cellular proliferation. WRN prevents the loss of telomeres replicated from the G-rich strand, which can form secondary G-quadruplex (G4) structures. Here, ...
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ژورنال
عنوان ژورنال: Proceedings of the National Academy of Sciences
سال: 1989
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.86.15.5893