Clinical utility gene card for: Werner syndrome
نویسندگان
چکیده
منابع مشابه
Werner syndrome gene variants in human sarcomas.
Werner syndrome is an autosomal inherited disease that is characterized by premature aging. The gene mutated in Werner syndrome (WS), WRN, encodes both a 3' --> 5' DNA helicase and a 3' --> 5' DNA exonuclease. Among the WS phenotypes is an exceptionally high incidence of sarcomas. We asked whether spontaneous sarcomas, not known to be associated with WS, also harbor mutations or unreported sing...
متن کاملWerner Syndrome
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, ...
متن کاملWerner Syndrome
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 کاملAgeing in Werner syndrome.
Oxidative stress markers including pentosidine and homocysteine were examined comparing them with inflammation markers including highly sensitive C-reactive protein (hsCRP) and matrix metalloproteinase-9 (MMP-9) in serum from patients with Werner syndrome (WS) and healthy individuals. Elevation of serum pentosidine correlated significantly with normal aging in healthy individuals (p < 0.0004). ...
متن کاملAdult Progeria: Werner Syndrome.
Werner's syndrome is an adult premature aging syndrome of autosomal recessive inheritance affecting connective tissues throughout the body.1 The exact etiology remains obscure even though biochemical and connective tissue abnormalities have been postulated.2 The disease involves multiple systems of the body and may be associated with internal malignancy.3 We report a case of a 35 year old man w...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2012
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2011.265