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Showing 1–15 of 15 results
Advanced filters: Author: Corey C. Harwell Clear advanced filters

  • In a multicenter research program coordinated by the International Mouse Phenotyping Consortium, Spielmann et al. analyze the cardiac function and structure in ~4,000 monogenic mutant mice and identify 705 mouse genes involved in cardiac function, 75% of which have not been previously linked to cardiac heritable disease in humans. Using the UK Biobank human data, the authors validate the link between cardiovascular disease and some of the newly identified genes to illustrate the resource value and potential of their mutant mouse collection.

    • Nadine Spielmann
    • Gregor Miller
    • Martin Hrabe de Angelis
    ResearchOpen Access
    Nature Cardiovascular Research
    Volume: 1, P: 157-173

  • The genetic basis of metabolic diseases is incompletely understood. Here, by high-throughput phenotyping of 2,016 knockout mouse strains, Rozman and colleagues identify candidate metabolic genes, many of which are associated with unexplored regulatory gene networks and metabolic traits in human GWAS.

    • Jan Rozman
    • Birgit Rathkolb
    • Martin Hrabe de Angelis
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-16

  • An analysis of cell-type diversity in brain samples from a variety of mammalian species, both during development and in adult animals, reveals that the TAC3 initial class of striatal interneurons is conserved across placental mammals and is homologous to Th striatal interneurons in rodents.

    • Emily K. Corrigan
    • Michael DeBerardine
    • Alex A. Pollen
    ResearchOpen Access
    Nature
    Volume: 647, P: 187-193

  • Examination of the molecular interactions that govern the assembly of neural circuits in a brain region called the hippocampus reveals that neuronal projections are guided to their targets by both attractive and repulsive cues.

    • Yajun Xie
    • Corey Harwell
    News & Views
    Nature
    Volume: 594, P: 341-343

  • A genome-wide association study and Metabochip meta-analysis of body mass index (BMI) detects 97 BMI-associated loci, of which 56 were novel, and many loci have effects on other metabolic phenotypes; pathway analyses implicate the central nervous system in obesity susceptibility and new pathways such as those related to synaptic function, energy metabolism, lipid biology and adipogenesis.

    • Adam E. Locke
    • Bratati Kahali
    • Elizabeth K. Speliotes
    Research
    Nature
    Volume: 518, P: 197-206

  • Damian Smedley and colleagues report the phenotypic characterization of the first 3,328 genes by the International Mouse Phenotyping Consortium. They develop new mouse models based on genes known to be associated with human mendelian diseases and identify potential disease-associated genes with little or no previous functional annotation.

    • Terrence F Meehan
    • Nathalie Conte
    • Damian Smedley
    Research
    Nature Genetics
    Volume: 49, P: 1231-1238

  • Reoviridae undergo a complex assembly pathway in the host cell. Here the authors use cryo-electron tomography to visualize the assembly stages of mammalian orthoreovirus revealing a single shelled intermediate with gross similarity to an early assembly stage of a family of prokaryotic dsRNA viruses.

    • Geoff Sutton
    • Dapeng Sun
    • Mark Boyce
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-7

  • The EMDataResource Ligand Model Challenge aimed at assessing the reliability and reproducibility of modeling ligands bound to protein and protein–nucleic acid complexes in cryo-EM maps determined at near-atomic resolution. This analysis presents the results and recommends best practices for assessing cryo-EM structures of liganded macromolecules.

    • Catherine L. Lawson
    • Andriy Kryshtafovych
    • Wah Chiu
    Research
    Nature Methods
    Volume: 21, P: 1340-1348

  • TMEM16K is a member of the TMEM16 family of integral membrane proteins that are either lipid scramblases or chloride channels. Here the authors combine cell biology, electrophysiology measurements, X-ray crystallography, cryo-EM and MD simulations to structurally characterize TMEM16K and show that it is an ER-resident lipid scramblase.

    • Simon R. Bushell
    • Ashley C. W. Pike
    • Elisabeth P. Carpenter
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16