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UMC Repository: Recent submissions

  • Astroglial calcium signaling and homeostasis in tuberous sclerosis complex 
    Romagnolo, Alessia; Dematteis, Giulia; Scheper, Mirte; Luinenburg, Mark J; Mühlebner, Angelika; Van Hecke, Wim; Manfredi, Marcello; De Giorgis, Veronica; Reano, Simone; Filigheddu, Nicoletta; Bortolotto, Valeria; Tapella, Laura; Anink, Jasper J; François, Liesbeth; Dedeurwaerdere, Stefanie; Mills, James D; Genazzani, Armando A; Lim, Dmitry; Aronica, Eleonora (Springer, 2024-02-28)
    Tuberous Sclerosis Complex (TSC) is a multisystem genetic disorder characterized by the development of benign tumors in various organs, including the brain, and is often accompanied by epilepsy, neurodevelopmental comorbidities ...
  • Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy 
    Kiewiet, Gea; Westra, Dineke; de Boer, Eddy N; van Berkel, Emma; Hofste, Tom G J; van Zweeden, Martine; Derks, Ronny C; Leijsten, Nico F A; Ruiterkamp-Versteeg, Martina H A; Charbon, Bart; Johansson, Lennart; Bos-Kruizinga, Janneke; Veenstra, Inge J; de Sain-van der Velden, Monique G M; Voorhoeve, Els; Heiner-Fokkema, M Rebecca; van Spronsen, Francjan; Sikkema-Raddatz, Birgit; Nelen, Marcel (Multidisciplinary Digital Publishing Institute (MDPI), 2024-03-07)
    In this study, we compare next-generation sequencing (NGS) approaches (targeted panel (tNGS), whole exome sequencing (WES), and whole genome sequencing (WGS)) for application in newborn screening (NBS). DNA was extracted ...
  • Rapid autopsies to enhance metastatic research: the UPTIDER post-mortem tissue donation program 
    Geukens, Tatjana; De Schepper, Maxim; Van Den Bogaert, Wouter; Van Baelen, Karen; Maetens, Marion; Pabba, Anirudh; Mahdami, Amena; Leduc, Sophia; Isnaldi, Edoardo; Nguyen, Ha-Linh; Bachir, Imane; Hajipirloo, Maysam; Zels, Gitte; Van Cauwenberge, Josephine; Borremans, Kristien; Vandecaveye, Vincent; Weynand, Birgit; Vermeulen, Peter; Leucci, Eleonora; Baietti, Maria Francesca; Sflomos, George; Battista, Laura; Brisken, Cathrin; Derksen, Patrick W B; Koorman, Thijs; Visser, Daan; Scheele, Colinda L G J; Thommen, Daniela S; Hatse, Sigrid; Fendt, Sarah-Maria; Vanderheyden, Evy; Van Brussel, Thomas; Schepers, Rogier; Boeckx, Bram; Lambrechts, Diether; Marano, Giuseppe; Biganzoli, Elia; Smeets, Ann; Nevelsteen, Ines; Punie, Kevin; Neven, Patrick; Wildiers, Hans; Richard, François; Floris, Giuseppe; Desmedt, Christine (Elsevier, 2024-04-24)
    Research on metastatic cancer has been hampered by limited sample availability. Here we present the breast cancer post-mortem tissue donation program UPTIDER and show how it enabled sampling of a median of 31 (range: 5-90) ...
  • One Health surveillance of colistin-resistant Enterobacterales in Belgium and the Netherlands between 2017 and 2019 
    i-4-1-Health Study Group (Public Library of Science, 2024-02)
    Background Colistin serves as the last line of defense against multidrug resistant Gram-negative bacterial infections in both human and veterinary medicine. This study aimed to investigate the occurrence and spread of ...
  • Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy 
    Gasperetti, Alessio; Carrick, Richard; Protonotarios, Alexandros; Laredo, Mikael; van der Schaaf, Iris; Syrris, Petros; Murray, Brittney; Tichnell, Crystal; Cappelletto, Chiara; Gigli, Marta; Medo, Kristen; Crabtree, Peter; Saguner, Ardan M.; Duru, Firat; Hylind, Robyn; Abrams, Dominic; Lakdawala, Neal K.; Massie, Charles; Cadrin-Tourigny, Julia; Targetti, Mattia; Olivotto, Iacopo; Graziosi, Maddalena; Cox, Moniek; Biagini, Elena; Charron, Philippe; Casella, Michela; Tondo, Claudio; Yazdani, Momina; Ware, James S.; Prasad, Sanjay; Calò, Leonardo; Smith, Eric; Helms, Adam; Hespe, Sophie; Ingles, Jodie; Tandri, Harikrishna; Ader, Flavie; Mestroni, Luisa; Wilde, Arthur; Merlo, Marco; Gandjbakhch, Estelle; Calkins, Hugh; te Riele, Anneline S.J.M.; Peter van Tintelen, J.; Elliot, Perry; James, Cynthia A. (Elsevier, 2024-03)
    Background: Patients with likely pathogenic/pathogenic desmoplakin (DSP) variants are poorly characterized. Some of them meet diagnostic criteria for arrhythmogenic right ventricular cardiomyopathy (ARVC), but it is unclear ...
  • Identification of gene regulatory networks affected across drug-resistant epilepsies 
    François, Liesbeth; Romagnolo, Alessia; Luinenburg, Mark J; Anink, Jasper J; Godard, Patrice; Rajman, Marek; van Eyll, Jonathan; Mühlebner, Angelika; Skelton, Andrew; Mills, James D; Dedeurwaerdere, Stefanie; Aronica, Eleonora (Nature Publishing Group, 2024-12)
    Epilepsy is a chronic and heterogenous disease characterized by recurrent unprovoked seizures, that are commonly resistant to antiseizure medications. This study applies a transcriptome network-based approach across ...
  • Human IgG Fc-engineering for enhanced plasma half-life, mucosal distribution and killing of cancer cells and bacteria 
    Foss, Stian; Sakya, Siri A; Aguinagalde, Leire; Lustig, Marta; Shaughnessy, Jutamas; Cruz, Ana Rita; Scheepmaker, Lisette; Mathiesen, Line; Ruso-Julve, Fulgencio; Anthi, Aina Karen; Gjølberg, Torleif Tollefsrud; Mester, Simone; Bern, Malin; Evers, Mitchell; Bratlie, Diane B; Michaelsen, Terje E; Schlothauer, Tilman; Sok, Devin; Bhattacharya, Jayanta; Leusen, Jeanette; Valerius, Thomas; Ram, Sanjay; Rooijakkers, Suzan H M; Sandlie, Inger; Andersen, Jan Terje (Nature Publishing Group, 2024-12)
    Monoclonal IgG antibodies constitute the fastest growing class of therapeutics. Thus, there is an intense interest to design more potent antibody formats, where long plasma half-life is a commercially competitive differentiator ...
  • Photoimmuno-antimicrobial therapy for Staphylococcus aureus implant infection 
    Dijk, Bruce van; Oliveira, Sabrina; Hooning van Duyvenbode, J Fred F; Nurmohamed, F Ruben H A; Mashayekhi, Vida; Hernández, Irati Beltrán; van Strijp, Jos; de Vor, Lisanne; Aerts, Piet C; Vogely, H Charles; Weinans, Harrie; van der Wal, Bart C H (Public Library of Science, 2024-03)
    Introduction Implant infections caused by Staphylococcus aureus are responsible for high mortality and morbidity worldwide. Treatment of these infections can be difficult especially when bacterial biofilms are involved. ...
  • Feasibility of an MR-based digital specimen for tongue cancer resection specimens: a novel approach for margin evaluation 
    de Koning, Klijs Jacob; Dankbaar, Jan Willem; de Keizer, Bart; Willemsen, Koen; van der Toorn, Annette; Breimer, Gerben Eise; van Es, Robert Jelle Johan; de Bree, Remco; Noorlag, Rob; Philippens, Marielle Emile Petronella (Frontiers Media S. A., 2024-03-28)
    Objective: This study explores the feasibility of ex-vivo high-field magnetic resonance (MR) imaging to create digital a three-dimensional (3D) representations of tongue cancer specimens, referred to as the “MR-based digital ...
  • Prognostic value of histopathologic traits independent of stromal tumor-infiltrating lymphocyte levels in chemotherapy-naïve patients with triple-negative breast cancer 
    de Boo, L W; Jóźwiak, K; Ter Hoeve, N D; van Diest, P J; Opdam, M; Wang, Y; Schmidt, M K; de Jong, V; Kleiterp, S; Cornelissen, S; Baars, D; Koornstra, R H T; Kerver, E D; van Dalen, T; Bins, A D; Beeker, A; van den Heiligenberg, S M; de Jong, P C; Bakker, S D; Rietbroek, R C; Konings, I R; Blankenburgh, R; Bijlsma, R M; Imholz, A L T; Stathonikos, N; Vreuls, W; Sanders, J; Rosenberg, E H; Koop, E A; Varga, Z; van Deurzen, C H M; Mooyaart, A L; Córdoba, A; Groen, E; Bart, J; Willems, S M; Zolota, V; Wesseling, J; Sapino, A; Chmielik, E; Ryska, A; Broeks, A; Voogd, A C; van der Wall, E; Siesling, S; Salgado, R; Dackus, G M H E; Hauptmann, M; Kok, M; Linn, S C (Elsevier, 2024-03)
    Background: In the absence of prognostic biomarkers, most patients with early-stage triple-negative breast cancer (eTNBC) are treated with combination chemotherapy. The identification of biomarkers to select patients for ...
  • Polycarbonate Ultracentrifuge Tube Re-use in Proteomic Analyses of Extracellular Vesicles 
    Cahalane, Rachel M.E.; Turner, Mandy E.; Clift, Cassandra L.; Blaser, Mark C.; Bogut, Gabrielle; Levy, Sydney; Kasai, Taku; Driedonks, Tom A.P.; Nolte-‘T Hoen, Esther N.M.; Aikawa, Masanori; Singh, Sasha A.; Aikawa, Elena (MYJoVE Corporation, 2024-03)
    Single-use laboratory plastics exacerbate the pollution crisis and contribute to consumable costs. In extracellular vesicle (EV) isolation, polycarbonate ultracentrifuge (UC) tubes are used to endure the associated high ...
  • IgM anti-GM2 antibodies in patients with multifocal motor neuropathy target Schwann cells and are associated with early onset 
    Budding, Kevin; Bos, Jeroen W; Dijkxhoorn, Kim; de Zeeuw, Elisabeth; Bloemenkamp, Lauri M; Zekveld, Eva M; Groen, Ewout J N; Jacobs, Bart C; Huizinga, Ruth; Goedee, H Stephan; Cats, Elisabeth A; Leusen, Jeanette H W; van den Berg, Leonard H; Hack, C Erik; van der Pol, W Ludo (BioMed Central, 2024-04-17)
    BACKGROUND: Multifocal motor neuropathy (MMN) is a rare, chronic immune-mediated polyneuropathy characterized by asymmetric distal limb weakness. An important feature of MMN is the presence of IgM antibodies against ...
  • Epidermal growth factor receptor (EGFR) is a target of the tumor-suppressor E3 ligase FBXW7 
    Boretto, Matteo; Geurts, Maarten H; Gandhi, Shashank; Ma, Ziliang; Staliarova, Nadzeya; Celotti, Martina; Lim, Sangho; He, Gui-Wei; Millen, Rosemary; Driehuis, Else; Begthel, Harry; Smabers, Lidwien; Roodhart, Jeanine; van Es, Johan; Wu, Wei; Clevers, Hans (National Academy of Sciences, 2024-03-19)
    FBXW7 is an E3 ubiquitin ligase that targets proteins for proteasome-mediated degradation and is mutated in various cancer types. Here, we use CRISPR base editors to introduce different FBXW7 hotspot mutations in human ...
  • Strategies to overcome low MHC-I expression in paediatric and adult tumours 
    Guillaume, J; Perzolli, A; Boes, M (2024)
    Immunotherapy has made significant advancements in cancer treatments, improving patients' survival rates and quality of life. Several challenges still need to be addressed, which include the considerable fraction of ...
  • Reporting on invasive lobular breast cancer in clinical trials: a systematic review 
    Van Baelen, Karen; Van Cauwenberge, Josephine; Maetens, Marion; Beck, Gabriela; Camden, Ann; Chase, Megan Claire; Fraser, Valerie; Freeney, Siobhan; Hutcheson, Laurie; Levine, Julia K.; Lien, Tone; Terveer, Rian; Turner, Claire; Senkus, Elzbieta; Jankowitz, Rachel C.; Vandecaveye, Vincent; Floris, Giuseppe; Neven, Patrick; Wildiers, Hans; Sawyer, Elinor; Vincent-Salomon, Anne; Derksen, Patrick W.B.; Desmedt, Christine (Elsevier, 2024-03-20)
    Invasive lobular breast cancer (ILC) differs from invasive breast cancer of no special type in many ways. Evidence on treatment efficacy for ILC is, however, lacking. We studied the degree of documentation and representation ...
  • Propofol anesthesia improves stroke outcomes over isoflurane anesthesia: a longitudinal multiparametric MRI study in a rodent model of transient middle cerebral artery occlusion 
    Franx, Bart A.A.; van Tilborg, Geralda A.F.; van der Toorn, Annette; van Heijningen, Caroline L.; Dippel, Diederik W.J.; van der Schaaf, Irene C.; Dijkhuizen, Rick M. (Frontiers Media S. A., 2024-02)
    General anesthesia is routinely used in endovascular thrombectomy procedures, for which volatile gas and/or intravenous propofol are recommended. Emerging evidence suggests propofol may have superior effects on disability ...
  • Evaluation of Neuromuscular Diseases and Complaints by Quantitative Muscle MRI 
    Schlaffke, Lara; Rehmann, Robert; Güttsches, Anne Katrin; Vorgerd, Matthias; Meyer-Frießem, Christine H.; Dinse, Hubert R.; Enax-Krumova, Elena; Froeling, Martijn; Forsting, Johannes (Multidisciplinary Digital Publishing Institute (MDPI), 2024-04)
    Background: Quantitative muscle MRI (qMRI) is a promising tool for evaluating and monitoring neuromuscular disorders (NMD). However, the application of different imaging protocols and processing pipelines restricts comparison ...
  • Surviving and Thriving with Critical Congenital Heart Disease: The impact on motor development, physical activity and fitness throughout childhood 
    Sprong, Maaike C.A. (Utrecht University, 2024-05-30)
    The survival rates of children with a serious congenital heart defect have improved dramatically in recent years due to significant advances in cardiac surgery. The first aim of this thesis, which is part of the Congenital ...
  • Harmonizing Heartbeats: A translational approach towards preventing life-threatening ventricular arrhythmias 
    Loen, Vera (Utrecht University, 2024-05-30)
    Cardiovascular diseases remain a leading cause of mortality worldwide, with sudden cardiac death, characterized by ventricular arrhythmias such as ventricular tachycardia (VT) or ventricular fibrillation (VF), being a ...
  • Towards Personalized Discrimination of Pediatric Renal Tumors based on Magnetic Resonance Imaging 
    van der Beek, Justine (Utrecht University, 2024-05-28)
    Renal tumors account for 5-7% of all pediatric malignancies. The vast majority (85-90%) concerns a nephroblastoma (Wilms tumor, WT). A WT is a triphasic tumor, containing stromal, epithelial and/or blastemal components, ...