Browsing NTNU Open by Author "Bordin, Diana Lilian"

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    • Alkyladenine DNA glycosylase associates with transcription elongation to coordinate DNA repair with gene expression 

      Montaldo, Nicola Pietro; Bordin, Diana Lilian; Brambilla, Alessandro; Rösinger, Marcel; Martin, Sarah Fordyce; Bjørås, Karine Øian; Bradamante, Stefano; Aas, Per Arne; Furrer, Antonia; Olsen, Lene Christin; Kunath, Nicolas; Otterlei, Marit; Sætrom, Pål; Bjørås, Magnar; Samson, Leona D.; van Loon, Barbara (Journal article; Peer reviewed, 2019)
      Base excision repair (BER) initiated by alkyladenine DNA glycosylase (AAG) is essential for removal of aberrantly methylated DNA bases. Genome instability and accumulation of aberrant bases accompany multiple diseases, ...

    • Characterization of FGD5 expression in primary breast cancers and lymph node metastases 

      Valla, Marit; Mjønes, Patricia; Engstrøm, Monica J; Ytterhus, Borgny; Bordin, Diana Lilian; van Loon, Barbara; Akslen, Lars A.; Vatten, Lars Johan; Opdahl, Signe; Bofin, Anna M. (Journal article; Peer reviewed, 2018)
      Faciogenital dysplasia 5 (FGD5) amplification drives tumor cell proliferation, and is present in 9.5% of breast cancers. We describe FGD5 expression, assess associations between FGD5 amplification and FGD5 expression, and ...

    • Increased p53 signaling impairs neural differentiation in HUWE1-promoted intellectual disabilities 

      Aprigliano, Rossana; Aksu, Merdane Ezgi; Bradamante, Stefano; Mihaljevic, Boris; Wang, Wei; Rian, Kristin; Montaldo, Nicola Pietro; Grooms, Kayla; Martin, Sarah; Bordin, Diana Lilian; Bosshard, Matthias; Peng, Yunhui; Alexov, Emil; Skinner, Cindy; Liabakk, Nina-Beate; Sullivan, Gareth; Bjørås, Magnar; Schwartz, Charles; van Loon, Barbara (Peer reviewed; Journal article, 2021)
      Essential E3 ubiquitin ligase HUWE1 (HECT, UBA, and WWE domain containing 1) regulates key factors, such as p53. Although mutations in HUWE1 cause heterogenous neurodevelopmental X-linked intellectual disabilities (XLIDs), ...