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UMC Repository: Recent submissions

  • Integrin-activating Yersinia protein Invasin sustains long-term expansion of primary epithelial cells as 2D organoid sheets 
    Wijnakker, Joost J.A.P.M.; van Son, Gijs J.F.; Krueger, Daniel; van de Wetering, Willine J.; Lopez-Iglesias, Carmen; Schreurs, Robin; van Rijt, Fenna; Lim, Sangho; Lin, Lin; Peters, Peter J.; Isberg, Ralph R.; Janda, Claudia Y.; de Lau, Wim; Clevers, Hans (National Academy of Sciences, 2025-01-07)
    Matrigel®/BME®, a basement membrane-like preparation, supports long-term growth of epithelial 3D organoids from adult stem cells [T. Sato et al., Nature 459, 262–265 (2009); T. Sato et al., Gastroenterology 141, 1762–1772 ...
  • In-vivo and ex-vivo evaluation of bio-inspired structures fabricated via PBF-LB for biomedical applications 
    Araya, Miguel; Järvenpää, Antti; Rautio, Timo; Vindas, Rafael; Estrada, Roberto; de Ruijter, Mylène; Guillén, Teodolito (Elsevier, 2025-04)
    Titanium-based lattice structures have gained significant attention in biomedical engineering due to their potential to mimic bone-like behavior and improve implant performance. This study evaluates the performance of ...
  • FAIR Software as a Service: Combining tools to implement FAIR for clinical data platforms 
    Overkleeft, Rick; van Boom, Sander; Prud’Hommeaux, Eric; Burger, Kees; Fransen, Jip; Kappen, Teus; Bonino da Silva Santos, Luiz; Kaliyaperumal, Rajaram; Roos, Marco (CEUR-WS, 2025-01-03)
    Many DCCs have operational expertise in deploying software services, but lack expertise in deploying and exploiting FAIR services that use Semantic Web technology for machine actionability. Although local deployment is ...
  • Divergent lineage trajectories and genetic landscapes in human gastric intestinal metaplasia organoids associated with early neoplastic progression 
    Yue, Sarah S.K.; Tong, Yin; Siu, Hoi Cheong; Ho, Siu Lun; Law, Simon Y.K.; Tsui, Wai Yin; Chan, Dessy; Huang, Yuanhua; Chan, Annie S.Y.; Yun, Shui Wa; Hui, Ho Sang; Choi, Jee Eun; Hsu, Matthew S.S.; Lai, Frank P.L.; Chan, April S.; Yuen, Siu Tsan; Clevers, Hans; Leung, Suet Yi; Yan, Helen H.N. (BMJ Publishing Group, 2025-03-06)
    Background: Gastric intestinal metaplasia (IM) is a precancerous stage spanning a morphological spectrum that is poorly represented by human cell line models. Objective: We aim to establish and characterise human IM cell ...
  • Entrustment and EPAs for Artificial Intelligence (AI): A Framework to Safeguard the Use of AI in Health Professions Education 
    Gin, Brian C.; O’Sullivan, Patricia S.; Hauer, Karen E.; Abdulnour, Raja Elie; Mackenzie, Madelynn; ten Cate, Olle; Boscardin, Christy K. (Wolters Kluwer, 2025-03)
    In this article, the authors propose a repurposing of the concept of entrustment to help guide the use of artificial intelligence (AI) in health professions education (HPE). Entrustment can help identify and mitigate the ...
  • Sports medicine in the Netherlands – focus and collaboration bring success 
    Zimmermann, Wes O.; Hartgens, Fred (BMJ Publishing Group, 2024-11-12)
  • Long-term survival of participants in the PASART-1 and PASART-2 trials of neo-adjuvant pazopanib and radiotherapy in soft tissue sarcoma 
    Van Riet, Bauke H G; Van Meekeren, Milan; Fiocco, Marta; Miah, Aisha; De Pree, Ilse; Wiltink, Lisette M; Scholten, Astrid; Heimans, Lotte; Bovée, Judith V M G; Gelderblom, Hans; Steeghs, Neeltje; Haas, Rick L (Informa Healthcare, 2025-01-15)
    OBJECTIVE: This study aims to assess the long-term safety and efficacy of adding pazopanib to neo-adjuvant radiotherapy followed by surgery in patients with high-risk non-metastatic soft tissue sarcoma of the trunk and ...
  • Male-female differences in thoracic aortic diameters at presentation of acute type A aortic dissection 
    Meccanici, F; Bom, A W; Knol, W G; Gökalp, A L; Thijssen, C G E; Bekkers, J A; Geuzebroek, G S C; Mokhles, M M; van Kimmenade, R R J; Budde, R P J; Takkenberg, J J M; Roos-Hesselink, J W (Elsevier, 2023-12)
    Background: Acute type A aortic dissection (ATAAD) is a highly lethal event, associated with aortic dilatation. It is not well known if patient height, weight or sex impact the thoracic aortic diameter (TAA) at ATAAD. The ...
  • Male-female differences in contemporary elective ascending aortic surgery: insights from the Netherlands Heart Registration 
    Gökalp, Arjen L; Thijssen, Carlijn G E; Bekkers, Jos A; Roos-Hesselink, Jolien W; Bogers, Ad J J C; Geuzebroek, Guillaume S C; Houterman, Saskia; Takkenberg, Johanna J M; Mokhles, Mostafa M (AME Publishing Company, 2023-11-27)
    Background: Scientific research regarding male-female differences in ascending aortic surgery is scarce. The objective of this study was to identify male-female differences in presentation, treatment and perioperative ...
  • Sex-related differences in the clinical course of aortic root and ascending aortic aneurysms: the DisSEXion Study 
    Notenboom, Maximiliaan L; de Keijzer, Adine R; Veen, Kevin M; Gökalp, Arjen; Bogers, Ad J J C; Heijmen, Robin H; van Kimmenade, Roland R J; Geuzebroek, Guillaume S C; Mokhles, M Mostafa; Bekkers, Jos A; Roos-Hesselink, Jolien W; Takkenberg, Johanna J M (Oxford University Press, 2025-02-07)
    Background and To explore male–female differences in aneurysm growth and clinical outcomes in a two-centre retrospective Dutch cohort Aims study of adult patients with ascending aortic aneurysm (AscAA). . . . . . . . . . ...
  • How to Put Survival After Cardiothoracic Interventions in the General Population Context: A Case-Based Practical Guideline to Calculate Cumulative Matched-General-Population Survival 
    Wang, Xu; Notenboom, Maximiliaan L; Veen, Kevin M; Grashuis, Pepijn; Andrinopoulou, Eleni-Rosalina; Etnel, Jonathan R G; Bogers, Ad J J C; Mokhles, Mostafa M; Takkenberg, Johanna J M (Lippincott Williams & Wilkins, 2025-02)
    BACKGROUND: Observed patient survival after cardiothoracic interventions should ideally be placed in the context of matched-general-population survival. This study outlines several methodologies of matching general population ...
  • Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease 
    Lenglet, Marion; Robriquet, Florence; Schwarz, Klaus; Camps, Carme; Couturier, Anne; Hoogewijs, David; Buffet, Alexandre; Knight, Samnatha, J.L.; Gad, Sophie; Couvé, Sophie; Chesnel, Franck; Pacault, Mathilde; Lindenbaum, Pierre; Job, Sylvie; Dumont, Solenne; Besnard, Thomas; Cornec, Marine; Dreau, Helene; Pentony, Melissa; Kvikstad, Erika; Deveaux, Sophie; Burnichon, Nelly; Ferlicot, Sophie; Vilaine, Mathias; Mazzella, Jean-Michaël; Airaud, Fabrice; Garrec, Céline; Heidet, Laurence; Irtan, Sabine; Mantadakis, Elpis; Bouchireb, Karim; Debatin, Klaus-Michael; Redon, Richard; Bezieau, Stephane; Bressac-de Paillerets, Brigitte; Teh, Bin Tean; Girodon, François; Randi, Maria Luigia; Putti, Maria Caterina; Bours, Vincent; van Wijk, Richard; Göthert, Joachim R.; Kattamis, Antonis; Janin, Nicolas; Bento, Celeste; Taylor, Jenny C; Arlot-Bonnemains, Yannick; Richard, Stéphane; Gimenez-Roqueplo, Anne Paule; Cario, Holger; Gardie, Betty (Elsevier, 2018)
    Chuvash polycythemia is an autosomal recessive form of erythrocytosis associated with a homozygous p.Arg200Trp mutation in the von Hippel-Lindau (VHL) gene. Since this discovery, additional VHL mutations have been identified ...
  • Elevated blood glucose and unfavourable tuberculosis treatment outcomes in a low-income setting: findings from a prospective cohort study in Eswatini 
    Williams, Victor; Vos-Seda, Alinda G; Calnan, Marianne; Ngwenya, Colani S; Haumba, Samson; Mdluli-Dlamini, Lindiwe; Grobbee, Diederick E; Otwombe, Kennedy; Klipstein-Grobusch, Kerstin (2025-01-16)
    Introduction The increasing burden of diabetes mellitus in low- and middle-income countries negatively impacts tuberculosis control. To understand this dual burden in Eswatini, we describe the prevalence and predictors of ...
  • Red blood cells from patients with sitosterolemia exhibit impaired membrane lipid composition and distribution and decreased deformability 
    Cloos, Anne Sophie; Rab, Minke A E; Van Der Smissen, Patrick; van Oirschot, Brigitte A; Mignolet, Eric; Van Der Net, Jeroen B.; Koster, A.; Kleinen, Kelly; Larondelle, Yvan; Terrasi, Romano; Muccioli, Giulio G.; van Wijk, Richard; Tyteca, Donatienne (2023-03-07)
    Sitosterolemia is a metabolic disorder leading to excessive accumulation of phytosterols. Hemolytic stomatocytosis and macrothrombocytopenia are part of the clinical picture. However, the impact of phytosterols on red blood ...
  • DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders 
    Lessel, Ivana; Baresic, Anja; Chinn, Ivan K; May, Jonathan; Goenka, Anu; Chandler, Kate E; Posey, Jennifer E; Afenjar, Alexandra; Averdunk, Luisa; Bedeschi, Maria Francesca; Besnard, Thomas; Brager, Rae; Brick, Lauren; Brugger, Melanie; Brunet, Theresa; Byrne, Susan; Calle-Martín, Oscar de la; Capra, Valeria; Cardenas, Paul; Chappé, Céline; Chong, Hey J; Cogne, Benjamin; Conboy, Erin; Cope, Heidi; Courtin, Thomas; Deb, Wallid; Dilena, Robertino; Dubourg, Christèle; Elgizouli, Magdeldin; Fernandes, Erica; Fitzgerald, Kristi K; Gangi, Silvana; George-Abraham, Jaya K; Gucsavas-Calikoglu, Muge; Haack, Tobias B; Hadonou, Medard; Hanker, Britta; Hüning, Irina; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma; Jin, Jay J; Jorge, Alexander A L; Josifova, Dragana; Kalinauskiene, Ruta; Kamsteeg, Erik-Jan; Keren, Boris; Kessler, Elena; Kölbel, Heike; Oegema, Renske; Lessel, Davor; Undiagnosed Diseases Network (Cell Press, 2025-02-06)
    BCL11B is a Cys2-His2 zinc-finger (C2H2-ZnF) domain-containing, DNA-binding, transcription factor with established roles in the development of various organs and tissues, primarily the immune and nervous systems. BCL11B ...
  • Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis 
    Delamare, Marine; Le Roy, Amandine; Pacault, Mathilde; Schmitt, Loïc; Garrec, Céline; Maaziz, Nada; Myllykoski, Matti; Rimbert, Antoine; Karaghiannis, Valéna; Aral, Bernard; Catherwood, Mark; Airaud, Fabrice; Mansour-Hendili, Lamisse; Hoogewijs, David; Peroni, Edoardo; Idriss, Salam; Lesieur, Valentine; Caillaud, Amandine; Si-Tayeb, Karim; Chariau, Caroline; Gaignerie, Anne; Rab, Minke; Haferlach, Torsten; Meggendorfer, Manja; Bézieau, Stéphane; Benetti, Andrea; Casadevall, Nicole; Hirsch, Pierre; Rose, Christian; Wemeau, Mathieu; Galacteros, Frédéric; Cassinat, Bruno; Bellosillo, Beatriz; Bento, Celeste; Van Wijk, Richard; Petrides, Petro E; Randi, Maria Luigia; McMullin, Mary Frances; Koivunen, Peppi; Girodon, François; Gardie, Betty; ECYT-3 consortium (Ferrata Storti Foundation, 2023-11-01)
    Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis ...
  • Cumulative Incidence, Risk Factors, and Overall Survival of Disease Recurrence after Curative Resection of Stage II-III Colorectal Cancer: A Population-based Study 
    Boute, Tara C; Swartjes, Hidde; Greuter, Marjolein J E; Elferink, Marloes A G; van Eekelen, Rik; Vink, Geraldine R; de Wilt, Johannes H W; Coupé, Veerle M H (American Association for Cancer Research Inc., 2024-02-29)
    UNLABELLED: Real-world data are necessitated to counsel patients about the risk for recurrent disease after curative treatment of colorectal cancer. This study provided a population-based overview of the epidemiology of ...
  • Summary of Joint European Hematology Association (EHA) and EuroBloodNet Recommendations on Diagnosis and Treatment of Methemoglobinemia 
    Iolascon, Achille; Andolfo, Immacolata; Russo, Roberta; Barcellini, Wilma; Fermo, Elisa; Toldi, Gergely; Ghirardello, Stefano; Rees, Davis; Van Wijk, Richard; Kattamis, Antonis; Gallagher, Patrick G; Roy, Noemi; Taher, Ali; Mohty, Razan; Kulozik, Andreas; De Franceschi, Lucia; Gambale, Antonella; De Montalembert, Mariane; Forni, Gian Luca; Harteveld, Cornelis L; Prchal, Josef; Bianchi, Paola (Wolters Kluwer Health, 2021-12)
  • Editorial: New Methods for Red Blood Cell Research and Diagnosis 
    Bianchi, Paola; van Wijk, Richard (Frontiers Research Foundation, 2021)
  • Recommendations for diagnosis and treatment of methemoglobinemia 
    Iolascon, Achille; Bianchi, Paola; Andolfo, Immacolata; Russo, Roberta; Barcellini, Wilma; Fermo, Elisa; Toldi, Gergely; Ghirardello, Stefano; Rees, Davis; Van Wijk, Richard; Kattamis, Antonis; Gallagher, Patrick G; Roy, Noemi; Taher, Ali; Mohty, Razan; Kulozik, Andreas; De Franceschi, Lucia; Gambale, Antonella; De Montalembert, Mariane; Forni, Gian Luca; Harteveld, Cornelis L; Prchal, Josef; SWG of red cell and iron of EHA and EuroBloodNet (John Wiley & Sons Inc., 2021-12-01)
    Methemoglobinemia is a rare disorder associated with oxidization of divalent ferro-iron of hemoglobin (Hb) to ferri-iron of methemoglobin (MetHb). Methemoglobinemia can result from either inherited or acquired processes. ...