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UMC Repository: Recent submissions

  • Preoperative Computed Tomography Changes Surgical Management for Clinically Low-Risk Well-Differentiated Thyroid Cancer 
    Bongers, Pim J; Verzijl, Raoul; Dzingala, Michael; Vriens, Menno R; Yu, Eugene; Pasternak, Jesse D; Rotstein, Lorne E (Springer New York, 2019-12)
    BACKGROUND: In the current guidelines for differentiated thyroid cancer (DTC), computed tomography (CT) of the neck has a limited role. The authors hypothesized that adding CT to the workup of clinically low-risk DTC size ...
  • Non-islet cell tumour hypoglycaemia in a patient with a well-differentiated gastric neuroendocrine tumour 
    Versluis, Judith; Valk, Gerlof; van Rossum, Huub; Tesselaar, Margot (BMJ Publishing Group, 2019-09-01)
    A 61-year-old man, without noteworthy medical history, presented with complaints of progressive fatigue and flushes. Diagnostic imaging revealed a large tumour in the stomach with liver metastases, and histopathological ...
  • Design of the ZWOT-CASE study: An observational study on the effectiveness of an integrated programme for cardiovascular risk management compared to usual care in general practice 
    Marchal, Suzanne; Hollander, Monika; Schoenmakers, Marieke; Schouwink, Michiel; Timmer, Jorik R.; Bilo, Henk J.G.; Schwantje, Olof; Van 'T Hof, Arnoud W.J.; Hoes, Arno W. (BioMed Central, 2019-11-01)
    Background: Cardiovascular diseases (CVD) contribute considerably to mortality and morbidity. Prevention of CVD by lifestyle change and medication is important and needs full attention. In the Netherlands an integrated ...
  • Micronuclei-based model system reveals functional consequences of chromothripsis in human cells 
    Kneissig, M; Keuper, K; de Pagter, Mirjam; van Roosmalen, Mark; Martin, J; Otto, H; Passerini, V; Campos Sparr, A; Renkens, Ivo; Kropveld, F; Vasudevan, A; Sheltzer, JM; Kloosterman, Wigard; Storchova, Zuzana (eLife Sciences Publications, 2019-11-28)
    Cancer cells often harbor chromosomes in abnormal numbers and with aberrant structure. The consequences of these chromosomal aberrations are difficult to study in cancer, and therefore several model systems have been ...
  • A Genome-Wide Haploid Genetic Screen Identifies Heparan Sulfate-Associated Genes and the Macropinocytosis Modulator TMED10 as Factors Supporting Vaccinia Virus Infection 
    Luteijn, Rutger D; van Diemen, Ferdy; Blomen, Vincent A; Boer, Ingrid G J; Manikam Sadasivam, Saravanan; van Kuppevelt, Toin H; Drexler, Ingo; Brummelkamp, Thijn R; Lebbink, Robert Jan; Wiertz, Emmanuel J (American Society for Microbiology, 2019-07-01)
    Vaccinia virus is a promising viral vaccine and gene delivery candidate and has historically been used as a model to study poxvirus-host cell interactions. We employed a genome-wide insertional mutagenesis approach in human ...
  • Sugar and ice: Immunoelectron microscopy using cryosections according to the Tokuyasu method 
    Möbius, Wiebke; Posthuma, George (Churchill Livingstone, 2019-04-01)
    Since the pioneering work of Kiyoteru Tokuyasu in the 70ths the use of thawed cryosections prepared according to the “Tokuyasu-method” for immunoelectron microscopy did not lose popularity. We owe this method a whole ...
  • Assessing the genetic association between vitamin B6 metabolism and genetic generalized epilepsy 
    International League Against Epilepsy Consortium on Complex Epilepsies (Elsevier, 2019-12-01)
    Altered vitamin B6 metabolism due to pathogenic variants in the gene PNPO causes early onset epileptic encephalopathy, which can be treated with high doses of vitamin B6. We recently reported that single nucleotide ...
  • MCLA-117, a CLEC12AxCD3 bispecific antibody targeting a leukaemic stem cell antigen, induces T cell-mediated AML blast lysis 
    van Loo, Pieter Fokko; Hangalapura, Basav N.; Thordardottir, Soley; Gibbins, John D.; Veninga, Henrike; Hendriks, Linda J.A.; Kramer, Arjen; Roovers, Rob C.; Leenders, Marij; de Kruif, John; Doornbos, Robert P.; Sirulnik, Andres; Throsby, Mark; Logtenberg, Ton; Dolstra, Harry; Bakker, Alexander B.H. (Informa Healthcare, 2019-07-03)
    Objective: We report the characterization of MCLA-117, a novel T cell-redirecting antibody for acute myeloid leukaemia (AML) treatment targeting CD3 on T cells and CLEC12A on leukaemic cells. In AML, CLEC12A is expressed ...
  • The Upper Hand of the Otu Amyloid Fibers: Increasing Enzymatic Activity and Prolonging Lifespan 
    Rabouille, Catherine (Cell Press, 2019-04-18)
    The formation of amyloid fibers is usually associated with aging and neurodegeneration. In this issue of Molecular Cell, Ji et al. (2019) demonstrate that the deubiquitinase Otu coalesces into amyloid-like fibers to enhance ...
  • Passive data collection and use in healthcare: A systematic review of ethical issues 
    Maher, Nicole A.; Senders, Joeky T.; Hulsbergen, Alexander F.C.; Lamba, Nayan; Parker, Michael; Onnela, Jukka Pekka; Bredenoord, Annelien L.; Smith, Timothy R.; Broekman, Marike L.D. (Elsevier Ireland Ltd, 2019-09-01)
    Introduction: Passive data refers to data generated without the active participation of the subject. This includes data from global positioning systems and accelerometers or metadata on phone call and text activity. Although ...
  • Defects in t6A tRNA modification due to GON7 and YRDC mutations lead to Galloway-Mowat syndrome 
    Arrondel, Christelle; Missoury, Sophia; Snoek, Rozemarijn; Patat, Julie; Menara, Giulia; Collinet, Bruno; Liger, Dominique; Durand, Dominique; Gribouval, Olivier; Boyer, Olivia; Buscara, Laurine; Martin, Gaëlle; Machuca, Eduardo; Nevo, Fabien; Lescop, Ewen; Braun, Daniela A.; Boschat, Anne Claire; Sanquer, Sylvia; Guerrera, Ida Chiara; Revy, Patrick; Parisot, Mélanie; Masson, Cécile; Boddaert, Nathalie; Charbit, Marina; Decramer, Stéphane; Novo, Robert; Macher, Marie Alice; Ranchin, Bruno; Bacchetta, Justine; Laurent, Audrey; Collardeau-Frachon, Sophie; van Eerde, Albertien M.; Hildebrandt, Friedhelm; Magen, Daniella; Antignac, Corinne; van Tilbeurgh, Herman; Mollet, Géraldine (Nature Publishing Group, 2019-09-03)
    N6-threonyl-carbamoylation of adenosine 37 of ANN-type tRNAs (t6A) is a universal modification essential for translational accuracy and efficiency. The t6A pathway uses two sequentially acting enzymes, YRDC and OSGEP, the ...
  • Synapse alterations precede neuronal damage and storage pathology in a human cerebral organoid model of CLN3-juvenile neuronal ceroid lipofuscinosis 
    Gomez-Giro, Gemma; Arias-Fuenzalida, Jonathan; Jarazo, Javier; Zeuschner, Dagmar; Ali, Muhammad; Possemis, Nina; Bolognin, Silvia; Halder, Rashi; Jäger, Christian; Kuper, Willemijn F.E.; Van Hasselt, Peter M.; Zaehres, Holm; Del Sol, Antonio; Van Der Putten, Herman; Schöler, Hans R.; Schwamborn, Jens C. (BioMed Central, 2019-12-30)
    The juvenile form of neuronal ceroid Lipofuscinosis (JNCL) is the most common form within this group of rare lysosomal storage disorders, causing pediatric neurodegeneration. The genetic disorder, which is caused by recessive ...
  • Colchicine in Stable Coronary Artery Disease 
    Fiolet, Aernoud T.L.; Nidorf, Stefan M.; Mosterd, Arend; Cornel, Jan H. (Excerpta Medica, 2019-01-01)
    Purpose: Disease management of stable coronary artery disease consists of controlling hemostasis and lipid regulation. No treatment strategies preventing plaque erosion or rupture are yet available. Cholesterol crystal–induced ...
  • Influence of common SCN1A promoter variants on the severity of SCN1A-related phenotypes 
    de Lange, Iris M.; Weuring, Wout; van ‘t Slot, Ruben; Gunning, Boudewijn; Sonsma, Anja C.M.; McCormack, Mark; de Kovel, Carolien; van Gemert, Lisette J.J.M.; Mulder, Flip; van Kempen, Marjan J.A.; Knoers, Nine V.A.M.; Brilstra, Eva H.; Koeleman, Bobby P.C. (John Wiley & Sons Inc., 2019-07)
    Background: Pathogenic variants in SCN1A cause variable epilepsy disorders with different disease severities. We here investigate whether common variation in the promoter region of the unaffected SCN1A allele could reduce ...
  • Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants 
    Middelkamp, Sjors; Vlaar, Judith M; Giltay, Jacques; Korzelius, Jerome; Besselink, Nicolle; Boymans, Sander; Janssen, Roel; de la Fonteijne, Lisanne; van Binsbergen, Ellen; van Roosmalen, Markus J; Hochstenbach, Ron; Giachino, Daniela; Talkowski, Michael E; Kloosterman, Wigard P; Cuppen, Edwin (BioMed Central, 2019-12-04)
    BACKGROUND: Genomic structural variants (SVs) can affect many genes and regulatory elements. Therefore, the molecular mechanisms driving the phenotypes of patients carrying de novo SVs are frequently unknown. METHODS: We ...
  • Implications of genetic diagnostics in epilepsy surgery candidates: A single-center cohort study 
    the Dutch Collaborative Epilepsy Surgery Program (LWEC) (Wiley-Blackwell Publishing Ltd, 2019-12)
    Objective: Genetic causes are increasingly identified in patients with focal epilepsy. These genetic causes may be related to the effectiveness of epilepsy surgery. We aimed to assess the use and yield of genetic testing ...
  • Biochemically Silent Sympathetic Paraganglioma, Pheochromocytoma, or Metastatic Disease in SDHD Mutation Carriers 
    Dreijerink, Koen M.A.; Rijken, Johannes A.; Compaijen, C. J.; Timmers, Henri J.L.M.; van der Horst-Schrivers, Anouk N.A.; van Leeuwaarde, Rachel S.; van Dam, P. Sytze; Leemans, C. René; van Dam, Eveline W.C.M.; Dickhoff, Chris; Dommering, Charlotte J.; de Graaf, Pim; Zwezerijnen, G. J.C.; van der Valk, Paul; Menke-Van der Houven van Oordt, C. Willemien; Hensen, Erik F.; Corssmit, Eleonora P.M.; Eekhoff, E. Marelise W. (Endocrine Society, 2019-11-01)
    CONTEXT: Current guidelines do not consistently recommend imaging beyond the head and neck region in succinate dehydrogenase subunit D (SDHD) mutation carriers as long as catecholamine metabolite levels are within the ...
  • Tumor Seeding During Colonoscopy as a Possible Cause for Metachronous Colorectal Cancer 
    Backes, Yara; Seerden, Tom C.J.; van Gestel, Rosanne S.F.E.; Kranenburg, Onno; Ubink, Inge; Schiffelers, Raymond M.; van Straten, Demian; van der Capellen, Malu S.; van de Weerd, Simone; de Leng, Wendy W.J.; Siersema, Peter D.; Offerhaus, G. Johan A.; Morsink, Folkert H.; Ramphal, Winesh; Terhaar Sive Droste, Jochiim; van Lent, Anja U.G.; Geesing, Joost M.J.; Vleggaar, Frank P.; Elias, Sjoerd G.; Lacle, Miangela M.; Moons, Leon M.G. (W.B. Saunders, 2019-11-01)
    Background and Aims: In patients who have undergone surgery for colorectal cancer (CRC), 3% have recurrence of (metachronous) CRC. We investigated whether tumor seeding during colonoscopy (iatrogenic implantation of tumor ...
  • Cellular stress leads to the formation of membraneless stress assemblies in eukaryotic cells 
    van Leeuwen, Wessel; Rabouille, Catherine (Blackwell Munksgaard, 2019-09)
    In cells at steady state, two forms of cell compartmentalization coexist: membrane-bound organelles and phase-separated membraneless organelles that are present in both the nucleus and the cytoplasm. Strikingly, cellular ...
  • Membrane-Bound Meet Membraneless in Health and Disease 
    Zhang, Chujun; Rabouille, Catherine (Multidisciplinary Digital Publishing Institute (MDPI), 2019-09)
    Membraneless organelles (MLOs) are defined as cellular structures that are not sealed by a lipidic membrane and are shown to form by phase separation. They exist in both the nucleus and the cytoplasm that is also heavily ...