Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1

    Vineta Fellman, Rishi Banerjee, Kai-Lan Lin, Ilari Pulli, Helen Cooper, Henna Tyynismaa, Jukka Kallijärvi

    Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease (2022)

    Published on December 4, 2025

    DOI: https://doi.org/10.1016/j.bbadis.2021.166298

    Core: Advanced Imaging Core
    ← Back to Publications
    Genes associated with immune response are upregulated in clinically healthy skin of patients with gliptin-associated bullous pemphigoid
    N. Kokkonen et al. • 2026 • Journal of Investigative Dermatology
    Core:Finnish Functional Genomics Centre
    Improving genotyped functional screening: A versatile closed-tube PCR for Illumina library generation reduces background sequences in multiplexed sequencing
    S. Oksanen et al. • 2026 • SLAS Technology
    Core:Finnish Functional Genomics Centre
    Dynamic landscape of transcription initiation by yeast RNA polymerase I
    O. Parilova et al. • 2026 • Nucleic Acids Research
    Abstract RNA polymerase I (Pol I) synthesizes precursor ribosomal RNA, a key step in ribosome biogenesis. Elevated Pol I activity... Read more
    Core:Protein Structure and Chemistry
    Staphylococcus aureus Augments Epithelial Skin Barrier Damage Through T Cell Activation in Cutaneous T Cell Lymphoma
    M. Gluud et al. • 2026 • Allergy
    ABSTRACT Background Skin barrier dysfunction is central to inflammation and susceptibility to infection in atopic dermatitis (AD). Cutaneous T‐cell lymphoma... Read more
    Core:Cytometry Core
    Fast label-free live imaging with FlowVision reveals key principles of cancer cell arrest on endothelial monolayers
    G. Follain et al. • 2026 • The EMBO Journal
    Abstract The rapid, transient, and unpredictable nature of interactions between circulating cells and the endothelium challenges the investigation of these... Read more
    Core:Advanced Imaging Core
    All user publications

    More User Publications