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Showing 1–3 of 3 results
Advanced filters: Author: Tim Rolph Clear advanced filters

  • Sharon Kolk, Tjitske Kleefstra and colleagues identify loss-of-function mutations in SIN3A in individuals with intellectual disability and other clinical features. They further show that knockdown of Sin3a in developing mouse brain results in reduced cortical neurogenesis, altered neuronal identity and aberrant cortical projections, identifying this MeCP2-interacting protein as a key regulator of cortical development.

    • Josefine S Witteveen
    • Marjolein H Willemsen
    • Sharon M Kolk
    Research
    Nature Genetics
    Volume: 48, P: 877-887

  • David Altshuler and colleagues sequenced seven genes for maturity-onset diabetes of the young (MODY), a dominant Mendelian disorder, in 4,003 individuals drawn from three population-based cohorts. They find ~2% of individuals unselected for phenotype carry low frequency variants in one of these MODY genes, predicted as likely to be pathogenic; however most of these individuals remain asymptomatic through middle age.

    • Jason Flannick
    • Nicola L Beer
    • David Altshuler
    Research
    Nature Genetics
    Volume: 45, P: 1380-1385

  • David Altshuler and colleagues report genotyping or sequencing of ∼150,000 individuals from several population-based cohorts, identifying 12 rare protein-truncating variants in SLC30A8, encoding a pancreatic islet zinc transporter. Carriers of these rare protein-truncating variants in SLC30A8 show reduced risk of type 2 diabetes and reduced glucose levels.

    • Jason Flannick
    • Gudmar Thorleifsson
    • David Altshuler
    Research
    Nature Genetics
    Volume: 46, P: 357-363