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Showing 1–13 of 13 results
Advanced filters: Author: Leonardo Bottolo Clear advanced filters

  • Here, the authors study the effects of expression quantitative trait loci on enhancer activity and promoter contacts in primary monocytes isolated from male individuals, suggesting an inherent genetic link between the activity of enhancers, their contacts to target gene promoters and gene expression.

    • Helen Ray-Jones
    • Chak Kei Sung
    • Mikhail Spivakov
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-26

  • Neurological disorders such as temporal lobe epilepsy (TLE) are known to be regulated by gene networks. In this study, the authors describe a genome-wide approach that uses samples of hippocampal tissue from patients with TLE, to identify the gene Sestrin 3 (SESN3) as a positive regulator of the disease.

    • Michael R. Johnson
    • Jacques Behmoaras
    • Enrico Petretto
    Research
    Nature Communications
    Volume: 6, P: 1-11

  • Pathological cardiac fibrosis is a hallmark of diseases leading to heart failure. Here, the authors used systems genetics to identify a pro-fibrotic gene network regulated by WWP2, a E3 ubiquitin ligase, which orchestrates the nucleocytoplasmic shuttling and transcriptional activity of SMAD2 in the diseased heart.

    • Huimei Chen
    • Aida Moreno-Moral
    • Enrico Petretto
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-19

  • Blood supply to the heart is crucial for cardiac function. Here, the authors show that the mitochondrial tryptophanyl-tRNA synthetase, WARS2, drives blood vessel generation in zebrafish and rats and that inhibition of Wars2 diminishes blood vessel growth both within and outside in the heart, suggesting a new target for manipulating angiogenesis.

    • Mao Wang
    • Patrick Sips
    • Stuart A Cook
    ResearchOpen Access
    Nature Communications
    Volume: 7, P: 1-12

  • Impairment of cognitive function is a common feature of many neurodevelopmental disorders. Systems genetics analysis in the brain uncovered a convergent gene network for both cognition and neurodevelopmental disorders. As the network does not recapitulate known pathways, this finding represents a new basis for understanding factors influencing normal and disordered cognition.

    • Michael R Johnson
    • Kirill Shkura
    • Enrico Petretto
    Research
    Nature Neuroscience
    Volume: 19, P: 223-232

  • A consortium reports the tripling of the number of genetic markers in Phase II of the International HapMap Project. This map of human genetic variation will continue to revolutionize discovery of susceptibility loci in common genetic diseases, and study of genes under selection in humans.

    • Kelly A. Frazer (Principal Investigator)
    • Dennis G. Ballinger
    • John Stewart
    Research
    Nature
    Volume: 449, P: 851-861

  • Mario Falchi, Philippe Froguel and colleagues report association of a multi-allelic copy number variant encompassing the salivary amylase gene AMY1 with body mass index and risk of obesity.

    • Mario Falchi
    • Julia Sarah El-Sayed Moustafa
    • Philippe Froguel
    Research
    Nature Genetics
    Volume: 46, P: 492-497

  • Here, a combination of genetic studies of gene expression, cross-species network analysis and genome-wide association studies has been used to identify gene networks and the loci underlying their regulation in rats. The results show that an inflammatory network driven by interferon regulatory factor 7 contributes to susceptibility to type 1 diabetes, and implicate the innate viral-response pathway and macrophages in the aetiology of this disease.

    • Matthias Heinig
    • Enrico Petretto
    • Stuart A. Cook
    Research
    Nature
    Volume: 467, P: 460-464

  • Sabeti et al. build on their This paper builds on previous work of detecting selection on human genes, using the many more markers available in the Phase II HapMap project. Three examples of apparent population-specific selection based on geographic area are described, and how these may relate to human biology is discussed.

    • Pardis C. Sabeti
    • Patrick Varilly
    • John Stewart
    Research
    Nature
    Volume: 449, P: 913-918