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Showing 1–10 of 10 results
Advanced filters: Author: Melissa Laird Smith Clear advanced filters

  • HNF1B is overexpressed in the clear cell subtype and epigenetically silenced in the serous subtype of ovarian cancer. Pearce and colleagues now show that genetic variants in HNF1B are differentially associated with risks of developing these two cancer subtypes, possibly through an epigenetic mechanism.

    • Hui Shen
    • Brooke L. Fridley
    • Celeste Leigh Pearce
    ResearchOpen Access
    Nature Communications
    Volume: 4, P: 1-10

  • Several studies show that APOE-ε4 coding variants are associated with Alzheimer’s disease (AD) risk. Here, Zhou et al. perform fine-mapping of the APOE region and find AD risk haplotypes with non-coding variants in the PVRL2 and APOC1 regions that are associated with relevant endophenotypes.

    • Xiaopu Zhou
    • Yu Chen
    • Nancy Y. Ip
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16

  • An improved, fully re-annotated Aedes aegypti genome assembly (AaegL5) provides insights into the sex-determining M locus, chemosensory systems that help mosquitoes to hunt humans and loci involved in insecticide resistance and will help to generate intervention strategies to fight this deadly disease vector.

    • Benjamin J. Matthews
    • Olga Dudchenko
    • Leslie B. Vosshall
    ResearchOpen Access
    Nature
    Volume: 563, P: 501-507

  • An integrative genomic analysis of several hundred endometrial carcinomas shows that a minority of tumour samples carry copy number alterations or TP53 mutations and many contain key cancer-related gene mutations, such as those involved in canonical pathways and chromatin remodelling; a reclassification of endometrial tumours into four distinct types is proposed, which may have an effect on patient treatment regimes.

    • Douglas A. Levine
    • Gad Getz
    • Douglas A. Levine
    ResearchOpen Access
    Nature
    Volume: 497, P: 67-73

  • Influenza A virus (IAV) infection induces transcription termination defects in host cells, an effect modulated by SUMOylation of an intrinsically disordered region of the influenza NS1 protein expressed by the 1918 pandemic IAV strain.

    • Nan Zhao
    • Vittorio Sebastiano
    • Ivan Marazzi
    Research
    Nature Structural & Molecular Biology
    Volume: 25, P: 885-893

  • This Registered Report presents the results of the Long-read RNA-Seq Genome Annotation Assessment Project, which is a community effort for benchmarking long-read methods for transcriptome analyses, including transcript isoform detection, quantification and de novo transcript detection.

    • Francisco J. Pardo-Palacios
    • Dingjie Wang
    • Angela N. Brooks
    ResearchOpen Access
    Nature Methods
    Volume: 21, P: 1349-1363

  • The Cancer Genome Atlas Network describe their multifaceted analyses of primary breast cancers, shedding light on breast cancer heterogeneity; although only three genes (TP53, PIK3CA and GATA3) are mutated at a frequency greater than 10% across all breast cancers, numerous subtype-associated and novel mutations were identified.

    • Daniel C. Koboldt
    • Robert S. Fulton
    • Jacqueline D. Palchik
    ResearchOpen Access
    Nature
    Volume: 490, P: 61-70