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Showing 1–2 of 2 results
Advanced filters: Author: Oskar Schnappauf Clear advanced filters

  • Zahnow et al. investigate the evolution of epithelial sodium channels (ENaCs) in mammals returning to marine life. ENaCs are built of αβγ- or δβγ-subunits. Their study suggests the SCNN1D gene encoding the δ-subunit suffers pseudogenization events in marine mammals due to high-salinity environment.

    • Fynn Zahnow
    • Chiara Jäger
    • Mike Althaus
    ResearchOpen Access
    Communications Biology
    Volume: 8, P: 1-15

  • Monogenic autoinflammatory diseases are linked to various germline and somatic pathogenic variants but numerous factors must be considered to explain their large phenotypic variability. This Review discusses genotype–phenotype relationships and the potential molecular mechanisms that might explain this variability.

    • Ivona Aksentijevich
    • Oskar Schnappauf
    Reviews
    Nature Reviews Rheumatology
    Volume: 17, P: 405-425