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UMC Repository: Recent submissions

  • Endomitosis controls tissue-specific gene expression during development 
    van Rijnberk, Lotte M.; Barrull-Mascaró, Ramon; van der Palen, Reinier L.; Schild, Erik S.; Korswagen, Hendrik C.; Galli, Matilde (Public Library of Science, 2022-05)
    Polyploid cells contain more than 2 copies of the genome and are found in many plant and animal tissues. Different types of polyploidy exist, in which the genome is confined to either 1 nucleus (mononucleation) or 2 or ...
  • The centriolar satellite protein Cfap53 facilitates formation of the zygotic microtubule organizing center in the zebrafish embryo 
    Willekers, Sven; Tessadori, Federico; van der Vaart, Babet; Henning, Heiko H.; Stucchi, Riccardo; Altelaar, Maarten; Roelen, Bernard A.J.; Akhmanova, Anna; Bakkers, Jeroen (Company of Biologists Ltd, 2022-08-15)
    In embryos of most animal species, the zygotic centrosome is assembled by the centriole derived from the sperm cell and pericentriolar proteins present in the oocyte. This zygotic centrosome acts as a microtubule organizing ...
  • A validated Screening instrument for Child Abuse and Neglect (SCAN) at the emergency department 
    Hoedeman, F; Puiman, P J; Affourtit, M J; Bakx, R; Langendam, M W; van de Putte, E M; Russel-Kampschoer, I M B; Schouten, M C M; Teeuw, A H; de Koning, H J; Moll, H A; van den Heuvel, Eline (Springer-Verlag, 2023-01)
    UNLABELLED: The objective of this study is to develop and validate a screening instrument for the recognition of child maltreatment in the emergency department (ED). Existing data on screening questions and outcomes ...
  • Is a History of Optimal Staging by Sentinel Lymph Node Biopsy in the Era Prior to Adjuvant Therapy Associated with Improved Outcome Once Melanoma Patients have Progressed to Advanced Disease? 
    Blankenstein, Stephanie A; Bonenkamp, Johannes J; Aarts, Maureen J B; van den Berkmortel, Franchette W P J; Blank, Christian U; Blokx, Willeke A M; Boers-Sonderen, Marye J; van den Eertwegh, Alfons J M; Franken, Margreet G; de Groot, Jan Willem B; Haanen, John B A G; Hospers, Geke A P; Kapiteijn, Ellen W; van Not, Olivier J; Piersma, Djura; van Rijn, Rozemarijn S; Suijkerbuijk, Karijn P M; van der Veldt, Astrid A M; Vreugdenhil, Gerard; Westgeest, Hans M; Wouters, Michel W J M; van Akkooi, Alexander C J (Springer New York, 2023-01)
    INTRODUCTION: Sentinel lymph node biopsy (SLNB) is important for staging in patients with primary cutaneous melanoma. Did having previously undergone SLNB also affect outcomes in patients once they have progressed to ...
  • Neoadjuvant FOLFOXIRI prior to chemoradiotherapy for high-risk (“ugly”) locally advanced rectal cancer: study protocol of a single-arm, multicentre, open-label, phase II trial (MEND-IT) 
    van den Berg, K.; Schaap, D. P.; Voogt, E. L.K.; Buffart, T. E.; Verheul, H. M.W.; de Groot, J. W.B.; Verhoef, C.; Melenhorst, J.; Roodhart, J. M.L.; de Wilt, J. H.W.; van Westreenen, H. L.; Aalbers, A. G.J.; van ‘t Veer, M.; Marijnen, C. A.M.; Vincent, J.; Simkens, L. H.J.; Peters, N. A.J.B.; Berbée, M.; Werter, I. M.; Snaebjornsson, P.; Peulen, H. M.U.; van Lijnschoten, I. G.; Roef, M. J.; Nieuwenhuijzen, G. A.P.; Bloemen, J. G.; Willems, J. M.W.E.; Creemers, G. J.M.; Nederend, J.; Rutten, H. J.T.; Burger, J. W.A. (BioMed Central, 2022-09-06)
    Background: The presence of mesorectal fascia (MRF) invasion, grade 4 extramural venous invasion (EMVI), tumour deposits (TD) or extensive or bilateral extramesorectal (lateral) lymph nodes (LLN) on MRI has been suggested ...
  • Consensus molecular subtype 4 (CMS4)-targeted therapy in primary colon cancer: A proof-of-concept study 
    Peters, Niek A.; Constantinides, Alexander; Ubink, Inge; van Kuik, Joyce; Bloemendal, Haiko J.; van Dodewaard, Joyce M.; Brink, Menno A.; Schwartz, Thijs P.; Lolkema, Martijn P.J.K.; Lacle, Miangela M.; Moons, Leon M.; Geesing, Joost; van Grevenstein, Wilhelmina M.U.; Roodhart, Jeanine M.L.; Koopman, Miriam; Elias, Sjoerd G.; Borel Rinkes, Inne H.M.; Kranenburg, Onno (Frontiers Media S. A., 2022-09-06)
    Background: Mesenchymal Consensus Molecular Subtype 4 (CMS4) colon cancer is associated with poor prognosis and therapy resistance. In this proof-of-concept study, we assessed whether a rationally chosen drug could mitigate ...
  • Healthcare professionals’ perspectives on implementation of universal tumor DNA testing in ovarian cancer patients: multidisciplinary focus groups 
    Witjes, Vera M.; Braspenning, Jozé C.C.; Hoogerbrugge, Nicoline; Smolders, Yvonne H.C.M.; Hermkens, Dorien M.A.; Mourits, Marian J.E.; Ligtenberg, Marjolijn J.L.; Ausems, Margreet G.E.M.; de Hullu, Joanne A. (Springer Netherlands, 2023-01)
    Universal tumor DNA testing in epithelial ovarian cancer patients can function not only as an efficient prescreen for hereditary cancer testing, but may also guide treatment choices. This innovation, introduced as Tumor-First ...
  • Survival of BRCA1/BRCA2-associated pT1 breast cancer patients, a cohort study 
    HEBON (Springer New York, 2022-07)
    Purpose: Intensive screening in BRCA1/2 mutation carriers aims to improve breast cancer (BC) prognosis. Our aim is to clarify the prognostic impact of tumor size in BRCA mutation carriers with a pT1 BC, which is currently ...
  • Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry 
    GHS Study Group; Genome of the Netherlands Project (Multidisciplinary Digital Publishing Institute (MDPI), 2022-07-02)
    Rare variants in at least 10 genes, including BRCA1, BRCA2, PALB2, ATM, and CHEK2, are associated with increased risk of breast cancer; however, these variants, in combination with common variants identified through ...
  • Intracranial Aneurysm Classifier Using Phenotypic Factors: An International Pooled Analysis 
    The @neurIST project; The ICAN Study Group; Genetics and Observational Subarachnoid Haemorrhage (GOSH) Study investigators; International Stroke Genetics Consortium (ISGC) (MDPI Multidisciplinary Digital Publishing Institute, 2022-09)
    Intracranial aneurysms (IAs) are usually asymptomatic with a low risk of rupture, but consequences of aneurysmal subarachnoid hemorrhage (aSAH) are severe. Identifying IAs at risk of rupture has important clinical and ...
  • Age-Stratified Propofol Dosage for Pediatric Procedural Sedation and Analgesia 
    Van Dijk, Huib; Hendriks, Mark P.; Van Eck-Smaling, Marga M.; Van Wolfswinkel, Leo; Van Loon, Kim (Lippincott Williams & Wilkins, 2023-03-01)
    Background: Procedural sedation and analgesia (PSA) for diagnostic and minimally invasive therapeutic procedures has become common practice in children of all ages. Based on our clinical experience, we suspected an inverse ...
  • Article Human induced pluripotent stem cells display a similar mutation burden as embryonic pluripotent cells in vivo 
    Hasaart, Karlijn A L; Manders, Freek; Ubels, Joske; Verheul, Mark; van Roosmalen, Markus J; Groenen, Niels M; Oka, Rurika; Kuijk, Ewart; Lopes, Susana M Chuva de Sousa; Boxtel, Ruben van (Elsevier, 2022-02-18)
    Induced pluripotent stem cells (iPSCs) hold great promise for regenerative medicine, but genetic instability is a major concern. Embryonic pluripotent cells also accumulate mutations during early development, but how this ...
  • Comparison of unifocal, flicker, and multifocal pupil perimetry methods in healthy adults 
    Portengen, Brendan L.; Porro, Giorgio L.; Imhof, Saskia M.; Naber, Marnix (Association for Research in Vision and Ophthalmology Inc., 2022-08)
    To this day, the most popular method of choice for testing visual field defects (VFDs) is subjective standard automated perimetry. However, a need has arisen for an objective, and less time-consuming method. Pupil perimetry ...
  • The Ethical Implications of Tissue Engineering for Regenerative Purposes: A Systematic Review 
    de Kanter, Anne-Floor Johanna; Jongsma, Karin Rolanda; Verhaar, Marianne C; Bredenoord, Annelien L (Mary Ann Liebert Inc., 2023-04-10)
    Tissue Engineering (TE) is a branch of Regenerative Medicine (RM) that combines stem cells and biomaterial scaffolds to create living tissue constructs to restore patients' organs after injury or disease. Over the last ...
  • The International Vitreoretinal B-Cell Lymphoma Registry: a protocol paper 
    Smith, Justine R.; Farrall, Alexandra L.; Davis, Janet L.; De Boer, Joke H.; Hall, Anthony J.; Mochizuki, Manabu; Sen, H. Nida; Takase, Hiroshi; Dam-Van Loon, Ninette H.Ten; Touitou, Valérie; Vasconcelos-Santos, Daniel V.; Wilson, David J.; Yeh, Steven; Radford, Mark H.B. (BMJ Publishing Group, 2022-07)
    Introduction Vitreoretinal lymphoma is a rare ocular cancer with high morbidity and mortality despite treatment. Diagnosis by cytopathology is often delayed, and various molecular and image-based investigations have been ...
  • Clinical Course and Outcome in Pediatric Idiopathic Chronic Anterior Uveitis 
    Kouwenberg, Carlyn V.; Wennink, Roos A. W.; Shahabi, Mahfam; Bozkir, Irem; Ayuso, Viera Koopman-kalinina; De Boer, Joke H. (Elsevier, 2022-09)
    PURPOSE: To examine the clinical course and outcome in children with idiopathic chronic anterior uveitis (iCAU), and to compare the results with those of age-matched children with juvenile idiopathic arthritis−associated ...
  • Genetic and psychosocial stressors have independent effects on the level of subclinical psychosis: findings from the multinational EU-GEI study 
    Pignon, B; Peyre, H; Ayrolles, A; Kirkbride, J B; Jamain, S; Ferchiou, A; Richard, J R; Baudin, G; Tosato, S; Jongsma, H; de Haan, L; Tarricone, I; Bernardo, M; Velthorst, E; Braca, M; Arango, C; Arrojo, M; Bobes, J; Del-Ben, C M; Di Forti, M; Gayer-Anderson, C; Jones, P B; La Cascia, C; Lasalvia, A; Menezes, P R; Quattrone, D; Sanjuán, J; Selten, J P; Tortelli, A; Llorca, P M; van Os, J; Rutten, B P F; Murray, R M; Morgan, C; Leboyer, M; Szöke, A; Schürhoff, F (Cambridge University Press, 2022-09-27)
    AIMS: Gene x environment (G×E) interactions, i.e. genetic modulation of the sensitivity to environmental factors and/or environmental control of the gene expression, have not been reliably established regarding aetiology ...
  • Cerebellar Atypicalities in Autism? 
    EU-AIMS LEAP group (Elsevier, 2022-10-15)
    BACKGROUND: The cerebellum contains more than 50% of the brain's neurons and is involved in social cognition. Cerebellar anatomical atypicalities have repeatedly been reported in individuals with autism. However, studies ...
  • Stroke genetics informs drug discovery and risk prediction across ancestries 
    COMPASS Consortium (Nature Research, 2022-11-03)
    Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of ...
  • Chronic neuropsychiatric sequelae of SARS-CoV-2: Protocol and methods from the Alzheimer's Association Global Consortium 
    de Erausquin, Gabriel A; Snyder, Heather; Brugha, Traolach S; Seshadri, Sudha; Carrillo, Maria; Sagar, Rajesh; Huang, Yueqin; Newton, Charles; Tartaglia, Carmela; Teunissen, Charlotte; Håkanson, Krister; Akinyemi, Rufus; Prasad, Kameshwar; D'Avossa, Giovanni; Gonzalez-Aleman, Gabriela; Hosseini, Akram; Vavougios, George D; Sachdev, Perminder; Bankart, John; Mors, Niels Peter Ole; Lipton, Richard; Katz, Mindy; Fox, Peter T; Katshu, Mohammad Zia; Iyengar, M Sriram; Weinstein, Galit; Sohrabi, Hamid R; Jenkins, Rachel; Stein, Dan J; Hugon, Jacques; Mavreas, Venetsanos; Blangero, John; Cruchaga, Carlos; Krishna, Murali; Wadoo, Ovais; Becerra, Rodrigo; Zwir, Igor; Longstreth, William T; Kroenenberg, Golo; Edison, Paul; Mukaetova-Ladinska, Elizabeta; Staufenberg, Ekkehart; Figueredo-Aguiar, Mariana; Yécora, Agustín; Vaca, Fabiana; Zamponi, Hernan P; Re, Vincenzina Lo; Majid, Abdul; Sundarakumar, Jonas; Gonzalez, Hector M; Geerlings, Mirjam I; Skoog, Ingmar; Salmoiraghi, Alberto; Boneschi, Filippo Martinelli; Patel, Vibuthi N; Santos, Juan M; Arroyo, Guillermo Rivera; Moreno, Antonio Caballero; Felix, Pascal; Gallo, Carla; Arai, Hidenori; Yamada, Masahito; Iwatsubo, Takeshi; Sharma, Malveeka; Chakraborty, Nandini; Ferreccio, Catterina; Akena, Dickens; Brayne, Carol; Maestre, Gladys; Blangero, Sarah Williams; Brusco, Luis I; Siddarth, Prabha; Hughes, Timothy M; Zuñiga, Alfredo Ramírez; Kambeitz, Joseph; Laza, Agustin Ruiz; Allen, Norrina; Panos, Stella; Merrill, David; Ibáñez, Agustín; Tsuang, Debby; Valishvili, Nino; Shrestha, Srishti; Wang, Sophia; Padma, Vasantha; Anstey, Kaarin J; Ravindrdanath, Vijayalakshmi; Blennow, Kaj; Mullins, Paul; Łojek, Emilia; Pria, Anand; Mosley, Thomas H; Gowland, Penny; Girard, Timothy D; Bowtell, Richard; Vahidy, Farhaan S (Wiley, 2022)
    Introduction: Coronavirus disease 2019 (COVID-19) has caused >3.5 million deaths worldwide and affected >160 million people. At least twice as many have been infected but remained asymptomatic or minimally symptomatic. ...