نتایج جستجو برای: werner syndrome
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WRN protein loss causes Werner syndrome (WS), which is characterized by premature aging as well as genomic and telomeric instability. WRN prevents telomere loss, but the telomeric protein complex must regulate WRN activities to prevent aberrant telomere processing. Telomere-binding TRF2 protein inhibits telomere t-loop deletion by blocking Holliday junction (HJ) resolvase cleavage activity, but...
Maintenance of genomic integrity is vital to all organisms. A number of human genetic disorders, including Werner Syndrome, Bloom Syndrome and Rothmund-Thomson Syndrome, exhibit genomic instability with some phenotypic characteristics of premature aging and cancer predisposition. Presumably the aberrant cellular and clinical phenotypes in these disorders arise from defects in important DNA meta...
Modulation of DNA repair proteins by small molecules has attracted great interest. An in vitro helicase activity screen was used to identify molecules that modulate DNA unwinding by Werner syndrome helicase (WRN), mutated in the premature aging disorder Werner syndrome. A small molecule from the National Cancer Institute Diversity Set designated NSC 19630 [1-(propoxymethyl)-maleimide] was ident...
Correspondence To the Editor: We have read with interest the article entitled " New classification of Herlyn–Werner–Wunderlich syndrome (HWWS) " by Zhu et al. and we want to clarify a few points. Such syndrome, although often reported as such in the literature, does not exist. Herlyn–Werner syndrome in their original description is a unilateral renal aplasia, with double uterus and blind vagina...
S. Pietri,1 A. Jungclaus,2,* M. Górska,1 H. Grawe,1 M. Pfützner,3 L. Cáceres,1,4,† P. Detistov,5 S. Lalkovski,5 V. Modamio,2,4 Z. Podolyák,6 P. H. Regan,6 D. Rudolph,7 J. Walker,2,4 E. Werner-Malento,3 P. Bednarczyk,8 P. Doornenbal,1,‡ H. Geissel,1 J. Gerl,1 J. Grebosz,8 I. Kojouharov,1 N. Kurz,1 W. Prokopowicz,1 H. Schaffner,1 H. J. Wollersheim,1 K. Andgren,9 J. Benlliure,10 G. Benzoni,11 A. M...
Werner syndrome (WS) is a human autosomal recessive genetic instability and cancer predisposition syndrome with features of premature aging. Several genetically determined mouse models of WS have been generated, however, none develops features of premature aging or an elevated risk of neoplasia unless additional genetic perturbations are introduced. In order to determine whether differences in ...
Loss-of-function mutations in the WRN helicase gene cause Werner syndrome- a progeroid syndrome with an elevated risk of cancer and other age-associated diseases. Large numbers of single nucleotide polymorphisms have been identified in WRN. We report here the organismal, cellular, and molecular phenotypes of variant rs3087425 (c. 2500C > T) that results in an arginine to cysteine substitution a...
Segmental progeroid syndromes are a group of disorders with multiple features resembling accelerated aging. Adult-onset Werner syndrome (WS) and childhood-onset Hutchinson-Gilford progeria syndrome are the best known examples. The discovery of genes responsible for such syndromes has facilitated our understanding of the basic mechanisms of aging as well as the pathogenesis of other common, age-...
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