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Showing 1–9 of 9 results
Advanced filters: Author: Andrea Maurano Clear advanced filters

  • David Evans, Brent Richards and colleagues carried out a genome-wide association study in 142,487 individuals from the UK Biobank and identified 153 new loci associated with heel bone mineral density. They also conducted in vivo studies that implicated GPC6 and several other genes in osteoporosis.

    • John P Kemp
    • John A Morris
    • David M Evans
    Research
    Nature Genetics
    Volume: 49, P: 1468-1475

  • Primary biliary cirrhosis is an autoimmune liver disease with poor therapeutic options. Here Cordell et al. a perform meta-analysis of European genome-wide association studies identifying six novel risk loci and a number of potential therapeutic pathways.

    • Heather J. Cordell
    • Younghun Han
    • Katherine A. Siminovitch
    ResearchOpen Access
    Nature Communications
    Volume: 6, P: 1-11

  • This overview of the ENCODE project outlines the data accumulated so far, revealing that 80% of the human genome now has at least one biochemical function assigned to it; the newly identified functional elements should aid the interpretation of results of genome-wide association studies, as many correspond to sites of association with human disease.

    • Ian Dunham
    • Anshul Kundaje
    • Ewan Birney
    ResearchOpen Access
    Nature
    Volume: 489, P: 57-74

  • Genome-wide association analyses identify 301 new loci influencing bone mineral density and 13 loci influencing fracture risk. Integrative analyses of epigenomic data and mouse knockout phenotypes provide additional insights into osteoporosis pathophysiology.

    • John A. Morris
    • John P. Kemp
    • J. Brent Richards
    Research
    Nature Genetics
    Volume: 51, P: 258-266

  • Despite tremendous progress in the development of LiS batteries, their performance at the full-cell level is not as competitive as state-of-the-art Li-ion batteries. Here the authors report a full-cell architecture making use of a hybrid intercalation-conversion cathode, enabling both high volumetric and gravimetric energy densities.

    • Weijiang Xue
    • Zhe Shi
    • Ju Li
    Research
    Nature Energy
    Volume: 4, P: 374-382

  • Human population genomic studies, including whole‐genome sequencing, were undertaken to identify determinants of bone mineral density (BMD), a major predictor of osteoporotic fractures. Non‐coding variants with large effects on BMD and fractures were identified near the EN1 locus and mouse studies confirmed this gene has an important role in skeletal biology.

    • Hou‐Feng Zheng
    • Vincenzo Forgetta
    • J. Brent Richards
    Research
    Nature
    Volume: 526, P: 112-117

  • Multiple transcriptome approaches, including single-cell sequencing, demonstrate that escape from X chromosome inactivation is widespread and occasionally variable between cells, chromosomes, and tissues, resulting in sex-biased expression of at least 60 genes and potentially contributing to sex-specific differences in health and disease.

    • Taru Tukiainen
    • Alexandra-Chloé Villani
    • Daniel G. MacArthur
    ResearchOpen Access
    Nature
    Volume: 550, P: 244-248

  • The authors show that rare genetic variants contribute to large gene expression changes across diverse human tissues and provide an integrative method for interpretation of rare variants in individual genomes.

    • Xin Li
    • Yungil Kim
    • Stephen B. Montgomery
    ResearchOpen Access
    Nature
    Volume: 550, P: 239-243