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Showing 1–7 of 7 results
Advanced filters: Author: Hafdis Th. Helgadottir Clear advanced filters

  • With aging, somatic mutations accumulate in cellular DNA; however, whether they drive age-related functional decline is incompletely understood. Here the authors show that these mutations can weaken muscle repair and reduce strength after injury, suggesting they play a role in age-related physical decline in mouse muscle.

    • Peter Vrtačnik
    • Lara G. Merino
    • Maria Eriksson
    ResearchOpen Access
    Nature Aging
    Volume: 5, P: 1739-1749

  • Hilma Holm et al. report a rare missense variant MYH6 that is associated with a high risk of sick sinus syndrome in Icelanders. This heart condition is found most often in elderly people and is the most frequent reason a heart pacemaker is implanted.

    • Hilma Holm
    • Daniel F Gudbjartsson
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 43, P: 316-320

  • Renal cell carcinoma (RCC) accounts for 80–90% of all kidney cancers, but to date, only five genome-wide significant RCC risk loci have been identified. Here, Gudmundsson et al.identify a new RCC susceptibility locus and provide insight into the genetic basis of the disease.

    • Julius Gudmundsson
    • Patrick Sulem
    • Kari Stefansson
    Research
    Nature Communications
    Volume: 4, P: 1-7

  • Kari Stefansson and colleagues report the whole-genome sequencing of 2,636 individuals from Iceland to a median of 20× coverage, providing a valuable genomic resource for this population isolate. They characterize patterns of genetic variation and population structure and demonstrate the usefulness of this resource for genetic discovery for several disease phenotypes.

    • Daniel F Gudbjartsson
    • Hannes Helgason
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 47, P: 435-444

  • Julius Gudmundsson and colleagues report a genome-wide association study for circulating levels of thyroid-stimulating hormone in 27,758 individuals not known to have thyroid cancer. They follow with thyroid cancer association analyses and identify common variants at three loci newly associated with susceptibility to thyroid cancer.

    • Julius Gudmundsson
    • Patrick Sulem
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 44, P: 319-322

  • Using a combination of whole-genome sequencing, haplotype sharing and the genealogies of the Icelandic population, Thorunn Rafnar, Kari Stefansson and colleagues identified a rare coding mutation in the gene of a BRCA1-interacting factor, BRIP1, that confers a high relative risk of ovarian cancer.

    • Thorunn Rafnar
    • Daniel F Gudbjartsson
    • Kari Stefansson
    Research
    Nature Genetics
    Volume: 43, P: 1104-1107