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UMC Repository: Recent submissions

  • de Luca, Kim L.; Rullens, Pim M.J.; Karpinska, Magdalena A.; de Vries, Sandra S.; Gacek-Matthews, Agnieszka; Pongor, Lőrinc S.; Legube, Gaëlle; Jachowicz, Joanna W.; Oudelaar, A. Marieke; Kind, Jop (Nature Publishing Group, 2024-11-21)
    Accurate repair of DNA damage is critical for maintenance of genomic integrity and cellular viability. Because damage occurs non-uniformly across the genome, single-cell resolution is required for proper interrogation, but ...
  • Kluiver, Thomas A.; Lu, Yuyan; Schubert, Stephanie A.; Kraaier, Lianne J.; Ringnalda, Femke; Lijnzaad, Philip; DeMartino, Jeff; Megchelenbrink, Wouter L.; Amo-Addae, Vicky; Eising, Selma; de Faria, Flavia W.; Münter, Daniel; van de Wetering, Marc; Kerl, Kornelius; Duiker, Evelien; van den Heuvel, Marius C.; de Meijer, Vincent E.; de Kleine, Ruben H.; Molenaar, Jan J.; Margaritis, Thanasis; Stunnenberg, Hendrik G.; de Krijger, Ronald R.; Zsiros, József; Clevers, Hans; Peng, Weng Chuan (Nature Publishing Group, 2024-11-20)
    Hepatoblastoma, the most prevalent pediatric liver cancer, almost always carries a WNT-activating CTNNB1 mutation, yet exhibits notable molecular heterogeneity. To characterize this heterogeneity and identify novel targeted ...
  • Signoria, Ilaria; Zwartkruis, Maria M.; Geerlofs, Lotte; Perenthaler, Elena; Faller, Kiterie M.E.; James, Rachel; McHale-Owen, Harriet; Green, Jared W.; Kortooms, Joris; Snellen, Sophie H.; Asselman, Fay Lynn; Gillingwater, Thomas H.; Viero, Gabriella; Wadman, Renske I.; van der Pol, W. Ludo; Groen, Ewout J.N. (Cell Press, 2024-12-12)
    The availability of three therapies for the neuromuscular disease spinal muscular atrophy (SMA) highlights the need to match patients to the optimal treatment. Two of these treatments (nusinersen and risdiplam) target ...
  • Molenaar, Mitchel A.; Selder, Jasper L.; Schmidt, Amand F.; Asselbergs, Folkert W.; Nieuwendijk, Jelle D.; van Dalfsen, Brigitte; Schuuring, Mark J.; Bouma, Berto J.; Chamuleau, Steven A.J.; Verouden, Niels J. (Oxford University Press, 2024-11-01)
    Aims: This study aimed to validate the machine learning-based Global Registry of Acute Coronary Events (GRACE) 3.0 score and PRAISE (Prediction of Adverse Events following an Acute Coronary Syndrome) in patients with acute ...
  • Coral, Daniel E.; Smit, Femke; Farzaneh, Ali; Gieswinkel, Alexander; Tajes, Juan Fernandez; Sparsø, Thomas; Delfin, Carl; Bauvin, Pierre; Wang, Kan; Temprosa, Marinella; De Cock, Diederik; Blanch, Jordi; Fernández-Real, José Manuel; Ramos, Rafael; Ikram, M. Kamran; Gomez, Maria F.; Kavousi, Maryam; Panova-Noeva, Marina; Wild, Philipp S.; van der Kallen, Carla; Adriaens, Michiel; van Greevenbroek, Marleen; Arts, Ilja; Le Roux, Carel; Ahmadizar, Fariba; Frayling, Timothy M.; Giordano, Giuseppe N.; Pearson, Ewan R.; Franks, Paul W. (Nature Research, 2025-02)
    Correction to: Nature Medicinehttps://doi.org/10.1038/s41591-024-03299-7, published online 24 October 2024. In the version of the article initially published, Pierre Bauvin’s surname appeared incorrectly (as Bauvain) and ...
  • Heesterbeek, D. G.J.; Riel, M.H.C. van; Leeuwen, T. Van; Berg, C. A.T. van den; Sbrizzi, A. (Institute of Electrical and Electronics Engineers Inc., 2024)
    Finding interpretable biomechanical models can provide insight into the functionality of organs with regard to physiology and disease. However, identifying broadly applicable dynamical models for in vivo tissue remains ...
  • van der Harst, Pim; Damman, Peter; de Groot, Joris R.; Kavousi, Maryam; van Ofwegen-Hanekamp, Clara E.E.; Hemels, Martin E.W. (Bohn Stafleu van Loghum, 2024-12)
  • Angeli, Francesco; Bodega, Francesca; Bergamaschi, Luca; Armillotta, Matteo; Amicone, Sara; Canton, Lisa; Fedele, Damiano; Suma, Nicole; Cavallo, Daniele; Foà, Alberto; Belmonte, Marta; Russo, Vincenzo; Attinà, Domenico; Niro, Fabio; Bonfiglioli, Rachele; Fanti, Stefano; Pavon, Anna Giulia; Guglielmo, Marco; Mushtaq, Saima; Pantaleo, Maria Abbondanza; Andreini, Daniele; Lovato, Luigi; Pontone, Gianluca; Lopez-Mattei, Juan; Paolisso, Pasquale; Pizzi, Carmine (Elsevier, 2024-12)
    Cardiac masses encompass a diverse range of benign and malignant tumors as well as pseudotumors. Accurate histologic identification is essential for guiding appropriate treatment, yet the diagnostic process remains ...
  • Mohammed, Aliyu; Cheabu, Benjamin Spears Ngmekpele; Amoah-Larbi, Jerry; Osei, Francis Adjei; Benyah, Georgina; Asampong, Robert; Odoom, Samuel Frimpong; Owusu, Eugene Acheampong; Amanor, Ernest; Idan, Jacob Solomon; Opoku, Douglas Aninng; Boakye, Kingsley; Yeboah, Peter (BioMed Central, 2024-11-22)
    Background: Advances in health and technology have reduced HIV to a more manageable communicable disease. Yet, stigma and discrimination against people with HIV remain critical barriers to ending the pandemic by 2030. Due ...
  • van Tuyll van Serooskerken, Anne Moon; Haeck, Inge; Arents, Bernd; Klokke, Arina; Dupuis, Just; Ragamin, Aviel; K, Sterkenburg; FMC, De Vries; P, Hoogland (Bohn Stafleu van Loghum, 2024-12)
    In 2022 publiceerde het Zorginstituut het Verbetersignalement Zinnige Zorg voor mensen met eczeem of psoriasis, gebaseerd op een systematische evaluatie van deze zorg. Hierbij werden de aanbevelingen uit richtlijnen en ...
  • Kastelijn, Janine B; van den Berg, A Merel; Talwar, Raju; Koks, Marije S; Marsman, Marije; van Erpecum, Karel J; Didden, Paul; Moons, Leon M G; Vleggaar, Frank P (Hellenic Society of Gastroenterology, 2024-11)
    BACKGROUND: With the increasing complexity and prolonged duration of endoscopic retrograde cholangiopancreatography (ERCP) procedures, sedation shifted from conscious sedation with benzodiazepines to deep sedation with ...
  • Drogt, Jojanneke; Milota, Megan; Veldhuis, Wouter; Vos, Shoko; Jongsma, Karin (JMIR Publications Inc., 2024-11-21)
    BACKGROUND: Image-driven specialisms such as radiology and pathology are at the forefront of medical artificial intelligence (AI) innovation. Many believe that AI will lead to significant shifts in professional roles, so ...
  • Vos, Shoko; Hebeda, Konnie; Milota, Megan; Sand, Martin; Drogt, Jojanneke; Grünberg, Katrien; Jongsma, Karin (Elsevier, 2025-02)
    In recent years, there has been an increasing interest in developing and using artificial intelligence (AI) models in pathology. Although pathologists generally have a positive attitude toward AI, they report a lack of ...
  • Bruurs, Lucas J.M.; Van Der Net, Mirjam C.; Zwakenberg, Susan; Zwartkruis, Fried J.T.; Bos, Johannes L. (Public Library of Science, 2018-11)
    Apico-basal polarity establishment is a seminal process in tissue morphogenesis. To function properly it is often imperative that epithelial cells limit apical membrane formation to a single domain. We previously demonstrated ...
  • Bruurs, Lucas J.M.; van der Net, Mirjam C.; Zwakenberg, Susan; Rosendahl Huber, Axel K.M.; Post, Anneke; Zwartkruis, Fried J.; Bos, Johannes L. (Taylor and Francis Ltd., 2018-06-01)
    PTEN is a tumor suppressor that is frequently lost in epithelial malignancies. A part of the tumor-suppressive properties of PTEN is attributed to its function in cell polarization and consequently its role in maintaining ...
  • Zwartkruis, Fried J.T.; Bos, L. Johannes (Elsevier, 2008-03-01)
  • De Bruyn, Kim M.T.; Zwartkruis, Fried J.T.; De Rooij, Johan; Akkerman, Jan Willem N.; Bos, Johannes L. (American Society for Biochemistry and Molecular Biology Inc., 2003-06-20)
    The small GTPase Rap1, which is activated by a large variety of stimuli, functions in the control of integrin-mediated cell adhesion. Here we show that in human megakaryocytes and several other commonly used hematopoietic ...
  • Glykofridis, Iris E.; Knol, Jaco C.; Balk, Jesper A.; Westland, Denise; Pham, Thang V.; Piersma, Sander R.; Lougheed, Sinéad M.; Derakhshan, Sepide; Veen, Puck; Rooimans, Martin A.; van Mil, Saskia E.; Böttger, Franziska; Poddighe, Pino J.; van de Beek, Irma; Drost, Jarno; Zwartkruis, Fried J.T.; de Menezes, Renee X.; Meijers-Heijboer, Hanne E.J.; Houweling, Arjan C.; Jimenez, Connie R.; Wolthuis, Rob M.F. (eLife Sciences Publications, 2021-01)
    Germline inactivating mutations in Folliculin (FLCN) cause Birt–Hogg–Dubé (BHD) syndrome, a rare autosomal dominant disorder predisposing to kidney tumors. FLCN is a conserved, essential gene linked to diverse cellular ...
  • Tan, A Katherine; Henry, Aurelie; Goffart, Nicolas; Poulet, Christophe; Sluijs, Jacqueline A; Hol, Elly M; Bours, Vincent; Robe, Pierre A (Multidisciplinary Digital Publishing Institute (MDPI), 2024-11-14)
    BACKGROUND: Previous works have shown that the expression of Class-II-Transactivator (CIITA) in tumor cells reduces the growth of glioblastoma (GB) in animal models, but immune effects cannot solely explain this. Here, we ...
  • Baugh, Joshua N; Veldhuijzen van Zanten, Sophie; Fiocco, Marta; Colditz, Niclas; Hoffmann, Marion; Janssens, Geert O; Valentini, Chiara; Hargrave, Darren; Wiese, Maria; von Bueren, André O; Karremann, Michael; Perwein, Thomas; Nussbaumer, Gunther; Benesch, Martin; Sturm, Dominik; Gielen, Gerrit H; Krause, Mechthild; Eyrich, Matthias; Hoving, Eelco W; Bison, Brigitte; van Vuurden, Dannis G; Kramm, Christof M (Oxford University Press, 2024)
    BACKGROUND: Our aim is to investigate the association of treatment with survival in patients with diffuse intrinsic pontine glioma (DIPG) by examining 6 historical treatment paths. METHODS: We retrospectively analyzed data ...