Visualitza per autoria "Aartsma-Rus, Annemieke"

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  • Longitudinal serum biomarker screening identifies malate dehydrogenase 2 as candidate prognostic biomarker for Duchenne muscular dystrophy
    Signorelli, Mirko; Ayoglu, Burcu; Johansson, Camilla; Lochmüller, Hanns; Straub, Volker; Muntoni, Francesco; Niks, Erik; Tsonaka, Roula; Persson, Anja; Aartsma-Rus, Annemieke; Nilsson, Peter; Al-Khalili Szigyarto, Cristina; Spitali, Pietro (Wiley-VCH Verlag, 2020)
    BACKGROUND: Duchenne muscular dystrophy (DMD) is a fatal disease for which no cure is available. Clinical trials have shown to be largely underpowered due to inter-individual variability and noisy outcome measures. The ...
  • RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases
    Lochmüller, Hanns; Badowska, Dorota M.; Thompson, Rachel; Knoers, Nine V.; Aartsma-Rus, Annemieke; Gut, Ivo Glynne; Wood, Libby; Harmuth, Tina; Durudas, Andre; Graessner, Holm; Schaefer, Franz; Riess, Olaf; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium (Nature Research, 2018)
    Although individually uncommon, rare diseases (RDs) collectively affect 6-8% of the population. The unmet need of the rare disease community was recognized by the European Commission which in 2012 funded three flagship ...
  • The RNA-binding profile of the splicing factor SRSF6 in immortalized human pancreatic β-cells
    Alvelos, Maria Inês; Brüggemann, Mirko; Sutandy, Fx Reymond; Juan-Mateu, Jonàs; Colli, Maikel Luis; Busch, Anke; Lopes, Miguel; Castela, Ângela; Aartsma-Rus, Annemieke; König, Julian; Zarnack, Kathi; Eizirik, Décio L. (Life Science Alliance, 2020)
    In pancreatic β-cells, the expression of the splicing factor SRSF6 is regulated by GLIS3, a transcription factor encoded by a diabetes susceptibility gene. SRSF6 down-regulation promotes β-cell demise through splicing ...

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