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Showing 1–8 of 8 results
Advanced filters: Author: Emma Siragher Clear advanced filters

  • Hutchinson-Gilford Progeria Syndrome is characterized by premature aging with cardiovascular disease being the main cause of death. Here the authors show that inhibition of the NAT10 enzyme enhances cardiac function and fitness, and reduces age-related phenotypes in a mouse model of premature aging.

    • Gabriel Balmus
    • Delphine Larrieu
    • Stephen P. Jackson
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-14

  • The transcriptional signature of embryonic lethality has not been defined. Here, the authors, as part of the Deciphering the Mechanisms of Developmental Disorders programme, define genes causing murine embryonic lethality around E9.5 and identify developmental delay transcriptional signatures.

    • John E. Collins
    • Richard J. White
    • Elisabeth M. Busch-Nentwich
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16

  • Analysis of embryonic lethal and sub-viable mouse knockout lines reveals that ablation of many genes affects placental development, and that the occurrence of placental defects is co-associated with abnormal brain, heart and vascular system development.

    • Vicente Perez-Garcia
    • Elena Fineberg
    • Myriam Hemberger
    Research
    Nature
    Volume: 555, P: 463-468

  • Systemic dissection of sexually dimorphic phenotypes in mice is lacking. Here, Karp and the International Mouse Phenotype Consortium show that approximately 10% of qualitative traits and 56% of quantitative traits in mice as measured in laboratory setting are sexually dimorphic.

    • Natasha A. Karp
    • Jeremy Mason
    • Jacqueline K. White
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-12

  • Discovery of causal variants for monogenic disorders has been facilitated by whole exome and genome sequencing, but does not provide a diagnosis for all patients. Here, the authors propose a Full Spectrum of Intolerance to Loss-of-Function (FUSIL) categorization that integrates gene essentiality information to aid disease gene discovery.

    • Pilar Cacheiro
    • Violeta Muñoz-Fuentes
    • Coleen Kane
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-16

  • Identification and characterization, using a comprehensive embryonic phenotyping pipeline, of 410 lethal alleles during the generation of the first 1,751 of 5,000 unique gene knockouts produced by the International Mouse Phenotyping Consortium.

    • Mary E. Dickinson
    • Ann M. Flenniken
    • Stephen A. Murray
    Research
    Nature
    Volume: 537, P: 508-514