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Showing 1–3 of 3 results
Advanced filters: Author: Tapani Ebeling Clear advanced filters

  • Data from over 700,000 individuals reveal the identity of 83 sequence variants that affect human height, implicating new candidate genes and pathways as being involved in growth.

    • Eirini Marouli
    • Mariaelisa Graff
    • Guillaume Lettre
    Research
    Nature
    Volume: 542, P: 186-190

  • Exome-wide genetic analysis on >300,000 individuals identifies associations with plasma lipid traits. Loci significantly associated with cholesterol and triglycerides are examined together to determine the effects of alleles on type 2 diabetes and coronary artery disease risk.

    • Dajiang J Liu
    • Gina M Peloso
    • Sekar Kathiresan
    Research
    Nature Genetics
    Volume: 49, P: 1758-1766

  • Growth retardation is most commonly caused by genetic defects in the growth hormone pathway. Here, in families with growth retardation and gingival fibromatosis, the authors identify mutations in the potassium channel gene KCNQ1 that cause electrophysiological aberrations and altered ACTH secretion in vitro.

    • Johanna Tommiska
    • Johanna Känsäkoski
    • Taneli Raivio
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-11