نتایج جستجو برای: werner syndrome
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VIPomas can occur as part of the type 1 multiple endocrine neoplasia (MEN) syndrome. VIP is the principal mediator of the watery diarrhea syndrome (also known as pancreatic cholera, Werner-Morrison syndrome, or diarrheogenic islet cell tumor). Watery diarrhea syndrome, with elevated VIP, has also been associated with neurogenic tumors (ganglioneuroma, neuroblastoma, pheochromocytoma), bronchoge...
Werner syndrome is an autosomal recessive human genetic instability and cancer predisposition syndrome that also has features of premature aging. We focused on two questions related to Werner syndrome protein (WRN) function in human fibroblasts: Do WRN-deficient fibroblasts have a consistent cellular phenotype? What role does WRN play in the recovery from replication arrest? We identified consi...
• Werner syndrome is an adult-onset of accelerated aging predisposing to solid cancer and hematological malignancies. Chemotherapy stem cell transplantation was successful in a patient with AML. Despite the poor risk profile, remains remission 5 years after toxicity acceptable.
Werner syndrome and Bloom syndrome result from defects in the RecQ helicases Werner (WRN) and Bloom (BLM), respectively, and display premature aging phenotypes. Similarly, XFE progeroid syndrome results from defects in the ERCC1-XPF DNA repair endonuclease. To gain insight into the origin of cellular senescence and human aging, we analyzed the dependence of sister chromatid exchange (SCE) frequ...
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