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Showing 1–7 of 7 results
Advanced filters: Author: Abhishek Subramanian Clear advanced filters

  • Loss-of-function variants in thyroid hormone transporter MCT8 cause a neurodevelopmental and metabolic disorder. Here the authors identify genotype-phenotype relationships, advance insights in MCT8 (dys)function and create a pathogenicity-severity variant classifier.

    • Stefan Groeneweg
    • Ferdy S. van Geest
    • W. Edward Visser
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-21

  • In situ measurements of the elemental abundances in the lunar southern high-latitude regions show that the local terrain is fairly uniform and mostly composed of ferroan anorthosite, a product of lunar magma ocean crystallization.

    • Santosh V. Vadawale
    • N. P. S. Mithun
    • Amitabh
    Research
    Nature
    Volume: 633, P: 327-331

  • This study describes the integrative analysis of 111 reference human epigenomes, profiled for histone modification patterns, DNA accessibility, DNA methylation and RNA expression; the results annotate candidate regulatory elements in diverse tissues and cell types, their candidate regulators, and the set of human traits for which they show genetic variant enrichment, providing a resource for interpreting the molecular basis of human disease.

    • Anshul Kundaje
    • Wouter Meuleman
    • Manolis Kellis
    ResearchOpen Access
    Nature
    Volume: 518, P: 317-330

  • Endothelial cell migration is indispensable for (tumour) angiogenesis and is fuelled by glycolysis. The metabolic underpinnings have been only partially unravelled to date, partly because of the lack of appropriate tools to analyse metabolic flux at the single-cell level. In this issue, Wu et al. introduce a novel imaging assay to capture glycolytic flux during motion in single endothelial cells. With this new tool, the authors uncovered a glycolysis-driven cytoskeletal remodelling apparatus that propels endothelial cell motility.

    • Abhishek Subramanian
    • Lisa M. Becker
    • Peter Carmeliet
    News & Views
    Nature Metabolism
    Volume: 3, P: 593-594