Clinical utility gene card for: Werner Syndrome - Update 2014
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 کاملAlport syndrome: clinical update.
This review of the literature on Alport syndrome (AS) places emphasis on genetic and clinical issues related to the sensorineural hearing loss in type III and type IV X-linked AS. The review covers prevalence, medical issues, genetic issues, audiologic findings, vestibular findings, the pathophysiology of hearing loss in type III AS, age- and phenotype-specific normative data and concludes with...
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). ...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2014
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2014.171