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UMC Repository: Recent submissions

  • Plasticity of Lgr5-Negative Cancer Cells Drives Metastasis in Colorectal Cancer 
    Fumagalli, Arianna; Oost, Koen C.; Kester, Lennart; Morgner, Jessica; Bornes, Laura; Bruens, Lotte; Spaargaren, Lisa; Azkanaz, Maria; Schelfhorst, Tim; Beerling, Evelyne; Heinz, Maria C.; Postrach, Daniel; Seinstra, Danielle; Sieuwerts, Anieta M.; Martens, John W.M.; van der Elst, Stefan; van Baalen, Martijn; Bhowmick, Debajit; Vrisekoop, Nienke; Ellenbroek, Saskia I.J.; Suijkerbuijk, Saskia J.E.; Snippert, Hugo J.; van Rheenen, Jacco (Cell Press, 2020-04-02)
    Colorectal cancer stem cells (CSCs) express Lgr5 and display extensive stem cell-like multipotency and self-renewal and are thought to seed metastatic disease. Here, we used a mouse model of colorectal cancer (CRC) and ...
  • Epinephrine stress testing during cardiac catheterization in patients with aortic coarctation: Epinephrine stress testing in aortic coarctation 
    Meijs, Timion A.; Krings, Gregor J.; Saad, Anan; Molenschot, Mirella M.C.; Doevendans, Pieter A.; Voskuil, Michiel (Mosby Inc., 2020-07)
    Background: The severity of aortic coarctation (CoA) may be underestimated during cardiac catheterization. We aimed to investigate whether epinephrine stress testing improves clinical decision making and outcome in CoA. ...
  • Females with cystic fibrosis have a larger decrease in sweat chloride in response to lumacaftor/ivacaftor compared to males 
    Aalbers, B. L.; Hofland, R. W.; Bronsveld, I.; de Winter-de Groot, K. M.; Arets, H. G.M.; de Kiviet, A. C.; van Oirschot-van de Ven, M. M.M.; Kruijswijk, M. A.; Schotman, S.; Michel, S.; van der Ent, C. K.; Heijerman, H. G.M. (Elsevier, 2021-01)
    Aim: To explore which patient-related factors influence sweat test response to CFTR modulators, as well as examining the correlation between the sweat chloride response and ppFEV1 or BMI response, using systematically ...
  • The course of cerebrospinal fluid parameters ≤ 20 days after aneurysmal subarachnoid hemorrhage 
    Koopman, Inez; Zuithoff, Nicolaas P A; Rinkel, Gabriel J E; Vergouwen, Mervyn D I (Elsevier, 2020-08-15)
    BACKGROUND: Aneurysmal subarachnoid hemorrhage (aSAH) patients have an inflammatory response in the cerebrospinal fluid (CSF). We determined CSF cell counts, erythrocyte/leukocyte ratio, and glucose- and protein concentrations ...
  • Conformation-specific inhibitors of activated Ras GTPases reveal limited Ras dependency of patient-derived cancer organoids 
    Wiechmann, Svenja; Maisonneuve, Pierre; Grebbin, Britta M.; Hoffmeister, Meike; Kaulich, Manuel; Clevers, Hans; Rajalingam, Krishnaraj; Kurinov, Igor; Farin, Henner F.; Sicheri, Frank; Ernst, Andreas (American Society for Biochemistry and Molecular Biology Inc., 2020-04-03)
    The small GTPases H, K, and NRAS are molecular switches indispensable for proper regulation of cellular proliferation and growth. Several mutations in the genes encoding members of this protein family are associated with ...
  • Kidney Organoids and Tubuloids 
    Yousef Yengej, Fjodor A; Jansen, Jitske; Rookmaaker, Maarten B; Verhaar, Marianne C; Clevers, Hans (Multidisciplinary Digital Publishing Institute (MDPI), 2020-06)
    In the past five years, pluripotent stem cell (PSC)-derived kidney organoids and adult stem or progenitor cell (ASC)-based kidney tubuloids have emerged as advanced in vitro models of kidney development, physiology, and ...
  • Rasch analysis of the PANSS negative subscale and exploration of negative symptom trajectories in first-episode schizophrenia – data from the OPTiMiSE trial 
    Baandrup, Lone; Allerup, Peter; Nielsen, Mette Ø; Bak, Nikolaj; Düring, Signe W; Leucht, Stefan; Galderisi, Silvana; Mucci, Armida; Bucci, Paola; Arango, Celso; Díaz-Caneja, Covadonga M; Dazzan, Paola; McGuire, Philip; Demjaha, Arsime; Ebdrup, Bjørn H; Kahn, René S; Glenthøj, Birte Y (Elsevier Ireland Ltd, 2020-07)
    The observed heterogeneity in negative symptom treatment response may be partly attributable to inadequate measurement tools or limitations in methods of analysis. Previous Item Response Theory models of the Positive and ...
  • Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses 
    OPTiMiSE study group (Springer Nature, 2020-09)
    A fundamental shortcoming in the current treatment of schizophrenia is the lack of valid criteria to predict who will respond to antipsychotic treatment. The identification of blood-based biological markers of the therapeutic ...
  • Glutamatergic and GABAergic reactivity and cognition in 22q11.2 deletion syndrome and healthy volunteers: A randomized double-blind 7-Tesla pharmacological MRS study 
    Vingerhoets, Claudia; Tse, Desmond Hy; van Oudenaren, Mathilde; Hernaus, Dennis; van Duin, Esther; Zinkstok, Janneke; Ramaekers, Johannes G; Jansen, Jacobus Fa; McAlonan, Grainne; van Amelsvoort, Therese (SAGE Publications Ltd, 2020-08)
    AIMS: 22q11.2 deletion syndrome (22q11.2DS) is associated with impaired cognitive functioning. Glutamatergic pathways have been linked with cognition and are hypothesized to be disrupted in 22q11.2DS patients, possibly ...
  • Bullying victimization and stress sensitivity in help-seeking youth: findings from an experience sampling study 
    Rauschenberg, Christian; van Os, Jim; Goedhart, Matthieu; Schieveld, Jan N M; Reininghaus, Ulrich (Springer Science and Business Media Deutschland GmbH, 2021-04)
    Bullying victimization confers the risk for developing various mental disorders, but studies investigating candidate mechanisms remain scarce, especially in the realm of youth mental health. Elevated stress sensitivity may ...
  • Consortium neuroscience of attention deficit/hyperactivity disorder and autism spectrum disorder: The ENIGMA adventure 
    Department of Neurology, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands (GJB, GJER) (Wiley-Liss Inc., 2022-01)
    Neuroimaging has been extensively used to study brain structure and function in individuals with attention deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) over the past decades. Two of the main ...
  • Bariatric surgery in patients with psychiatric comorbidity: Significant weight loss and improvement of physical quality of life 
    Vermeer, Karlijn J; Monpellier, Valerie M; Cahn, Wiepke; Janssen, Ignace M C (John Wiley & Sons Inc., 2020-08-01)
    Background: Patients that have psychiatric comorbidity are thought to lose less weight than the general bariatric population and are therefore sometimes denied surgery. However, there is no scientific evidence for this ...
  • Exploring the Temporal Relation between Body Mass Index and Corticosteroid Metabolite Excretion in Childhood 
    Van Keulen, Britt J; Dolan, Conor V; Andrew, Ruth; Walker, Brian R; Hulshoff Pol, Hilleke E; Boomsma, Dorret I; Rotteveel, Joost; Finken, Martijn J J (Multidisciplinary Digital Publishing Institute (MDPI), 2020-05-23)
    Childhood obesity is associated with alterations in hypothalamus-pituitary-adrenal (HPA) axis activity. However, it is unknown whether these alterations are a cause or a consequence of obesity. This study aimed to explore ...
  • Sepsis at ICU admission does not decrease 30-day survival in very old patients: a post-hoc analysis of the VIP1 multinational cohort study 
    VIP1 study (Springer-Verlag GmbH and Co. KG, 2020-05-13)
    Background: The number of intensive care patients aged ≥ 80 years (Very old Intensive Care Patients; VIPs) is growing. VIPs have high mortality and morbidity and the benefits of ICU admission are frequently questioned. ...
  • Cognitive and affective outcomes of genetic counselling in the Netherlands at group and individual level: a personalized approach seems necessary 
    Voorwinden, Jan S; Plantinga, Mirjam; Ausems, Margreet; Knoers, Nine; Velthuizen, Mary; Birnie, Erwin; Lucassen, Anneke M; Ranchor, Adelita V; van Langen, Irene M (Springer Nature, 2020-09)
    We performed a large outcome study at group and individual level in which the goals of genetic counselling were operationalized into cognitive and affective outcomes: empowerment, perceived personal control and anxiety. ...
  • ICU beds: less is more? No 
    de Lange, Dylan W; Soares, Marcio; Pilcher, David (Springer-Verlag, 2020-05-26)
  • Variants in CAPZA2, a member of an F-actin capping complex, cause intellectual disability and developmental delay 
    Huang, Yan; Mao, Xiao; van Jaarsveld, Richard H; Shu, Li; Terhal, Paulien A; Jia, Zhengjun; Xi, Hui; Peng, Ying; Yan, Huiming; Yuan, Shan; Li, Qibin; Wang, Hua; Bellen, Hugo J (Oxford University Press, 2020-06-03)
    The actin cytoskeleton is regulated by many proteins including capping proteins that stabilize actin filaments (F-actin) by inhibiting actin polymerization and depolymerization. Here we report two pediatric probands who ...
  • Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome 
    Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R.F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C.O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E.H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van der Smagt, Jasper J.; van Gassen, Koen L.I.; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M.C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske (Springer Nature, 2021-06)
    Defects in histone methyltransferases (HMTs) are major contributing factors in neurodevelopmental disorders (NDDs). Heterozygous variants of SETD1A involved in histone H3 lysine 4 (H3K4) methylation were previously identified ...
  • Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis 
    Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Vergano, Samantha A.Schrier; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Līvija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Feldman, Hagit Baris; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine (Lippincott Williams & Wilkins, 2020-03)
    Correction to: Genetics in Medicine 2019; https://doi.org/10.1038/s41436-019-0612-0; published online 07 August 2019
  • The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis 
    Weiss, Karin; Lazar, Hayley P.; Kurolap, Alina; Martinez, Ariel F.; Paperna, Tamar; Cohen, Lior; Smeland, Marie F.; Whalen, Sandra; Heide, Solveig; Keren, Boris; Terhal, Pauline; Irving, Melita; Takaku, Motoki; Roberts, John D.; Petrovich, Robert M.; Schrier Vergano, Samantha A.; Kenney, Amy; Hove, Hanne; DeChene, Elizabeth; Quinonez, Shane C.; Colin, Estelle; Ziegler, Alban; Rumple, Melissa; Jain, Mahim; Monteil, Danielle; Roeder, Elizabeth R.; Nugent, Kimberly; van Haeringen, Arie; Gambello, Michael; Santani, Avni; Medne, Līvija; Krock, Bryan; Skraban, Cara M.; Zackai, Elaine H.; Dubbs, Holly A.; Smol, Thomas; Ghoumid, Jamal; Parker, Michael J.; Wright, Michael; Turnpenny, Peter; Clayton-Smith, Jill; Metcalfe, Kay; Kurumizaka, Hitoshi; Gelb, Bruce D.; Baris Feldman, Hagit; Campeau, Philippe M.; Muenke, Maximilian; Wade, Paul A.; Lachlan, Katherine (Lippincott Williams & Wilkins, 2020-02-01)
    Purpose: Sifrim–Hitz–Weiss syndrome (SIHIWES) is a recently describedmultisystemic neurodevelopmental disorder caused by de novo variants inCHD4. In this study, we investigated theclinical spectrum of the disorder, ...