نتایج جستجو برای: werner syndrome
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A valid method of studying age related degenerative pathologies is to study human genetic diseases that appear to accelerate many, though not necessarily all, features of the aging process. Such diseases are described as progeroid syndromes because of their possible relevance to many aspects of aging and age related disease. This article describes the recent progress made at the cellular and mo...
lymphoproliferative syndrome Aleš Janda, Aff1 Aff2 Corresponding Affiliation: Aff1 Klaus Schwarz, Aff3 Aff4 Mirjam van der Burg, Aff5 Werner Vach, Aff6 Hanna Ijspeert, Aff5 Myriam Ricarda Lorenz, Aff3 Magdeldin Elgizouli, Aff1 Kathrin Pieper, Aff1 Paul Fisch, Aff7 Joachim Hagel, Aff1 Raquel Lorenzetti, Aff1 Maximilian Seidl, Aff1 Aff7 Joachim Roesler, Aff8 Fabian Hauck, Aff9 Elisabetta Traggiai...
The International Registry of Werner syndrome (www.wernersyndrome.org) has been providing molecular diagnosis of the Werner syndrome (WS) for the past decade. The present communication summarizes, from among 99 WS subjects, the spectrum of 50 distinct mutations discovered by our group and by others since the WRN gene (also called RECQL2 or REQ3) was first cloned in 1996; 25 of these have not pr...
Mutations in the chromosome 8p WRN gene cause Werner syndrome (WRN), a human autosomal recessive disease that mimics premature aging and is associated with genetic instability and an increased risk of cancer. All of the WRN mutations identified in WRN patients are predicted to truncate the WRN protein with loss of a C-terminal nuclear localization signal. However, many of these truncated protei...
Werner syndrome (WS) is the canonical adult human progeroid ('premature aging') syndrome. Patients with this autosomal recessive Mendelian disorder display constitutional genomic instability and an elevated risk of important age-associated diseases including cancer. Remarkably few analyses of WS patient tissue and tumors have been performed to provide insight into WS disease pathogenesis or the...
Many data pertaining to the accelerated telomere loss in cultured cells derived from Werner syndrome (WS), a representative premature aging syndrome, have been accumulated. However, there have been no definitive data on in vivo telomere shortening in WS patients. In the present study, we measured terminal restriction fragment (TRF) lengths of 10 skin samples collected from extremities of 8 WS p...
Werner syndrome (WS) is an autosomal recessive disorder caused by a mutation in the WRN gene, and it is considered to be a representative type of progeroid syndrome (1). Patients with WS often exhibit insulin resistance, which is associated with the accumulation of visceral fat and disadipocytokinemia. We and others have previously reported that pioglitazone, a peroxisome proliferator–activated...
The premature ageing Werner syndrome (WS) is characterized by the early onset of many age related phenotypes, including graying of hair, cataracts, atherosclerosis, cancer and type 2 diabetes. Type 2 diabetes (DM2) is the loss of blood glucose homeostastis, due to insulin resistance and a failure of acute glucose-stimulated insulin secretion (GSIS) by pancreatic cells. Early compensation for in...
Werner syndrome (WS) is characterized by premature onset of age-associated disorders and predisposition to cancer. The WS protein, WRN, encodes 3' --> 5' DNA helicase and 3' --> 5' DNA exonuclease activities, and is implicated in the maintenance of genomic stability. Translesion (TLS) DNA polymerases (Pols) insert nucleotides opposite replication-blocking DNA lesions and presumably prevent repl...
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