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  1. Article

    Open Access

    Homozygosity for the WRN Helicase-Inactivating Variant, R834C, does not confer a Werner syndrome clinical phenotype

    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 ...

    Ashwini S. Kamath-Loeb, Diego G. Zavala-van Rankin… in Scientific Reports (2017)

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    Article

    The Werner syndrome protein is a DNA helicase

    Werner syndrome (WS) is an uncommon autosomal recessive disorder characterized by premature aging. The clinical manifestations of WS, including atherosclerosis and osteoporosis, appear early in adulthood, and ...

    Matthew D. Gray, Jiang-Cheng Shen, Ashwini S. Kamath-Loeb, A. Blank… in Nature Genetics (1997)