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Showing 1–7 of 7 results
Advanced filters: Author: Ismael Padioleau Clear advanced filters

  • While R-loops can alter cell homeostasis, it is unclear what determines their toxicity. Here, the authors, by using Top1 knockdown as a tool to enhance the formation of R-loops at certain genomic sites, reveal and characterize a proportion of R-loops that are more toxic to the cell by causing DNA damage.

    • Alexy Promonet
    • Ismaël Padioleau
    • Philippe Pasero
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-12

  • Examination of allele-specific expression identifies 71 genes with excess somatic cis-regulatory effects in colorectal cancer (CRC), and 1,693 and 948 expression quantitative trait loci (eQTLs) in normal samples and tumours, respectively (with 36% of tumour eQTLs exclusive to CRC); tumour-specific eQTLs are more enriched for low CRC genome-wide association study P values and accumulate more somatic mutations than shared eQTLs, suggesting a role as germline-derived cancer regulatory drivers.

    • Halit Ongen
    • Claus L. Andersen
    • Emmanouil T. Dermitzakis
    Research
    Nature
    Volume: 512, P: 87-90

  • Xeroderma pigmentosum (XP) is a rare genetic disorder that is associated with a higher risk of skin cancer. Here, the authors analyse the genomes of skin cancers from patients across five different XP groups, revealing genetic and molecular factors related to the mutational profile and UV-related mutagenesis in XP.

    • Andrey A. Yurchenko
    • Fatemeh Rajabi
    • Sergey I. Nikolaev
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-17

  • Chronic myelomonocytic leukaemia is classified as proliferative (pCMML) or dysplastic based on the white blood cell counts but biological differences are unclear. Here, the authors show genetic, transcriptomic and epigenomic differences between these two subtypes establishing that pCMML is RAS-pathway driven and that inhibiting RAS-driven PLK1 expression is a viable therapeutic target.

    • Ryan M. Carr
    • Denis Vorobyev
    • Mrinal M. Patnaik
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-18

  • Xeroderma Pigmentosum group C (XP-C) is a rare genetic disorder characterised by deficient DNA repair leading to skin and internal cancer, but the latter is not well understood molecularly. Here the authors sequence genomes of non-skin cancers from XP-C patients to unravel its mutational patterns.

    • Andrey A. Yurchenko
    • Ismael Padioleau
    • Sergey Nikolaev
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-11

  • Sequencing and deep analysis of mRNA and miRNA from lymphoblastoid cell lines of 462 individuals from the 1000 Genomes Project reveal widespread genetic variation affecting the regulation of most genes, with transcript structure and expression level variation being equally common but genetically largely independent, and the analyses point to putative causal variants for dozens of disease-associated loci.

    • Tuuli Lappalainen
    • Michael Sammeth
    • Emmanouil T. Dermitzakis
    Research
    Nature
    Volume: 501, P: 506-511