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UMC Repository: Recent submissions

  • Stochastic Inheritance of Division and Death Times Determines the Size and Phenotype of CD8+ T Cell Families 
    Pandit, Aridaman; De Boer, Rob J (Frontiers Media S. A., 2019-03-14)
    After antigen stimulation cognate naïve CD8+ T cells undergo rapid proliferation and ultimately their progeny differentiates into short-lived effectors and longer-lived memory T cells. Although the expansion of individual ...
  • Current status of use of big data and artificial intelligence in RMDs: a systematic literature review informing EULAR recommendations 
    Kedra, Joanna; Radstake, Timothy; Pandit, Aridaman; Baraliakos, Xenofon; Berenbaum, Francis; Finckh, Axel; Fautrel, Bruno; Stamm, Tanja A; Gomez-Cabrero, David; Pristipino, Christian; Choquet, Remy; Servy, Hervé; Stones, Simon; Burmester, Gerd; Gossec, Laure (BMJ Publishing Group, 2019-06)
    Objective: To assess the current use of big data and artificial intelligence (AI) in the field of rheumatic and musculoskeletal diseases (RMDs). Methods: A systematic literature review was performed in PubMed MEDLINE in ...
  • Characterization of the ferret TRB locus guided by V, D, J, and C gene expression analysis 
    Gerritsen, Bram; Pandit, Aridaman; Zaaraoui-Boutahar, Fatiha; van den Hout, Mirjam C G N; van IJcken, Wilfred F J; de Boer, Rob J; Andeweg, Arno C (Springer-Verlag, 2020-02)
    The domestic ferret, Mustela putorius furo, is an important mammalian animal model to study human respiratory infection. However, insufficient genomic annotation hampers detailed studies of ferret T cell responses. In this ...
  • Machine learning in rheumatology approaches the clinic 
    Pandit, Aridaman; Radstake, Timothy R D J (Nature Research, 2020-02)
  • Autoantigen TRIM21/Ro52 is expressed on the surface of antigen-presenting cells and its enhanced expression in Sjögren's syndrome is associated with B cell hyperactivity and type I interferon activity 
    Hillen, Maarten R; Urso, Katia; Koppe, Emma; Lopes, Ana Pinheiro; Blokland, Sofie L M; Pandit, Aridaman; Slocombe, Tom; van Maurik, André; van Roon, Joel A G; Radstake, Timothy R D J (BMJ Publishing Group, 2020-07)
  • Looking for the optimal treatment of uncomplicated urinary tract infections 
    Verheij, Theo J.M.; Platteel, Tamara N. (Elsevier Limited, 2020-09-08)
  • CXCL4 suppresses tolerogenic immune signature of monocyte-derived dendritic cells 
    Silva-Cardoso, Sandra C; Tao, Weiyang; Fernández, Beatriz Malvar; Boes, Marianne; Radstake, Timothy R D J; Pandit, Aridaman (Wiley-VCH Verlag, 2020-10-01)
    RNA sequencing and DNA methylomic profiling were performed after differentiating monocytes for 6 days into moDCs with/without CXCL4 presence. We show that CXCL4 downregulates genes associated with tolerogenicity in DCs ...
  • A mutation update for the FLNC gene in myopathies and cardiomyopathies 
    Verdonschot, Job A J; Vanhoutte, Els K; Claes, Godelieve R F; Helderman-van den Enden, Apollonia T J M; Hoeijmakers, Janneke G J; Hellebrekers, Debby M E I; de Haan, Amber; Christiaans, Imke; Lekanne Deprez, Ronald H; Boen, Hanne M; van Craenenbroeck, Emeline M; Loeys, Bart L; Hoedemaekers, Yvonne M; Marcelis, Carlo; Kempers, Marlies; Brusse, Esther; van Waning, Jaap I; Baas, Annette F; Dooijes, Dennis; Asselbergs, Folkert W; Barge-Schaapveld, Daniela Q C M; Koopman, Pieter; van den Wijngaard, Arthur; Heymans, Stephane R B; Krapels, Ingrid P C; Brunner, Han G (John Wiley & Sons Inc., 2020-06)
    Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally, FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high-throughput screening in cardiomyopathy cohorts ...
  • Modifier genes in SCN1A-related epilepsy syndromes 
    de Lange, Iris M; Mulder, Flip; van 't Slot, Ruben; Sonsma, Anja C M; van Kempen, Marjan J A; Nijman, Isaac J; Ernst, Robert F; Knoers, Nine V A M; Brilstra, Eva H; Koeleman, Bobby P C (John Wiley & Sons Inc., 2020-04-01)
    Background: SCN1A is one of the most important epilepsy-related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence ...
  • Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy 
    Johannesen, Katrine M; Mitter, Diana; Janowski, Robert; Roth, Christian; Toulouse, Joseph; Poulat, Anne-Lise; Ville, Dorothee M; Chatron, Nicolas; Brilstra, Eva; Geleijns, Karin; Born, Alfred Peter; McLean, Scott; Nugent, Kimberly; Baynam, Gareth; Poulton, Cathryn; Dreyer, Lauren; Gration, Dylan; Schulz, Solveig; Dieckmann, Andrea; Helbig, Katherine L; Merkenschlager, Andreas; Jamra, Rami; Finck, Anja; Gardella, Elena; Hjalgrim, Helle; Mirzaa, Ghayda; Brancati, Francesco; Bierhals, Tatjana; Denecke, Jonas; Hempel, Maja; Lemke, Johannes R; Rubboli, Guido; Muschke, Petra; Guerrini, Renzo; Vetro, Annalisa; Niessing, Dierk; Lesca, Gaetan; Møller, Rikke S (Lippincott Williams & Wilkins, 2019-12)
    Objective: The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods: Through diagnostic gene panel screening in an epilepsy cohort, ...
  • Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic-dyskinetic encephalopathy 
    Carvill, Gemma L; Helbig, Katherine L; Myers, Candace T; Scala, Marcello; Huether, Robert; Lewis, Sara; Kruer, Tyler N; Guida, Brandon S; Bakhtiari, Somayeh; Sebe, Joy; Tang, Sha; Stickney, Heather; Oktay, Sehribani Ulusoy; Bhandiwad, Ashwin A; Ramsey, Keri; Narayanan, Vinodh; Feyma, Timothy; Rohena, Luis O; Accogli, Andrea; Severino, Mariasavina; Hollingsworth, Georgina; Gill, Deepak; Depienne, Christel; Nava, Caroline; Sadleir, Lynette G; Caruso, Paul A; Lin, Angela E; Jansen, Floor E; Koeleman, Bobby; Brilstra, Eva; Willemsen, Marjolein H; Kleefstra, Tjitske; Sa, Joaquim; Mathieu, Marie-Laure; Perrin, Laurine; Lesca, Gaetan; Striano, Pasquale; Casari, Giorgio; Scheffer, Ingrid E; Raible, David; Sattlegger, Evelyn; Capra, Valeria; Padilla-Lopez, Sergio; Mefford, Heather C; Kruer, Michael C (John Wiley & Sons Inc., 2020-07)
    Heterozygous de novo variants in the eukaryotic elongation factor EEF1A2 have previously been described in association with intellectual disability and epilepsy but never functionally validated. Here we report 14 new ...
  • De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy 
    Singh, Sakshi; Gupta, Aditi; Zech, Michael; Sigafoos, Ashley N; Clark, Karl J; Dincer, Yasemin; Wagner, Matias; Humberson, Jennifer B; Green, Sarah; van Gassen, Koen; Brandt, Tracy; Schnur, Rhonda E; Millan, Francisca; Si, Yue; Mall, Volker; Winkelmann, Juliane; Gavrilova, Ralitza H; Klee, Eric W; Engleman, Kendra; Safina, Nicole P; Slaugh, Rachel; Bryant, Emily M; Tan, Wen-Hann; Granadillo, Jorge; Misra, Sunita N; Schaefer, G Bradley; Towner, Shelley; Brilstra, Eva H; Koeleman, Bobby P C (Lippincott Williams & Wilkins, 2020-08)
    PURPOSE: This study characterizes the clinical and genetic features of nine unrelated patients with de novo variants in the NR4A2 gene. METHODS: Variants were identified and de novo origins were confirmed through trio exome ...
  • Cardiac arrhythmias in Dravet syndrome: an observational multicenter study 
    Shmuely, Sharon; Surges, Rainer; Helling, Robert M; Gunning, W Boudewijn; Brilstra, Eva H; Verhoeven, Judith S; Cross, J Helen; Sisodiya, Sanjay M; Tan, Hanno L; Sander, Josemir W; Thijs, Roland D (John Wiley & Sons Inc., 2020-04-01)
    OBJECTIVES: We ascertained the prevalence of ictal arrhythmias to explain the high rate of sudden unexpected death in epilepsy (SUDEP) in Dravet syndrome (DS). METHODS: We selected cases with clinical DS, ≥6 years, SCN1A ...
  • Drugs Commonly Applied to Kidney Patients May Compromise Renal Tubular Uremic Toxins Excretion 
    Mihaila, Silvia M; Faria, João; Stefens, Maurice F J; Stamatialis, Dimitrios; Verhaar, Marianne C; Gerritsen, Karin G F; Masereeuw, Rosalinde (Multidisciplinary Digital Publishing Institute (MDPI), 2020-06-12)
    In chronic kidney disease (CKD), the secretion of uremic toxins is compromised leading to their accumulation in blood, which contributes to uremic complications, in particular cardiovascular disease. Organic anion transporters ...
  • Imaging the In Vivo Degradation of Tissue Engineering Implants by Use of Supramolecular Radiopaque Biomaterials 
    Talacua, Hanna; Söntjens, Serge H M; Thakkar, Shraddha H; Brizard, Aurelie M A; van Herwerden, Lex A; Vink, Aryan; van Almen, Geert C; Dankers, Patricia Y W; Bouten, Carlijn V C; Budde, Ricardo P J; Janssen, Henk M; Kluin, Jolanda (Wiley-VCH Verlag, 2020-07)
    For in situ tissue engineering (TE) applications it is important that implant degradation proceeds in concord with neo-tissue formation to avoid graft failure. It will therefore be valuable to have an imaging contrast agent ...
  • Mitral Valve Replacement With the 15-mm Mechanical Valve: A 20-Year Multicenter Experience 
    IJsselhof, Rinske J.; Slieker, Martijn G.; Hazekamp, Mark G.; Accord, Ryan; van Wetten, Herbert; Haas, Felix; Schoof, Paul H. (Elsevier, 2020-09)
    Background: The aim of this study was to evaluate early and long-term outcomes (mortality and prosthetic valve replacement) after mitral valve replacement with the 15-mm St Jude Medical prosthesis (St Jude Medical, St Paul, ...
  • Mechanical Mitral Valve Replacement: A Multicenter Study of Outcomes With Use of 15- to 17-mm Prostheses 
    IJsselhof, Rinske J; Slieker, Martijn G; Gauvreau, Kimberlee; Muter, Angelika; Marx, Gerald R; Hazekamp, Mark G; Accord, Ryan; van Wetten, Herbert; van Leeuwen, Wouter; Haas, Felix; Schoof, Paul H; Nathan, Meena (Elsevier, 2020-12)
    Background: The aim of this study was to evaluate early and mid-term outcomes (mortality and prosthetic valve reintervention) after mitral valve replacement with 15- to 17-mm mechanical prostheses. Methods: A multicenter, ...
  • Follow-up after biventricular repair of the hypoplastic left heart complex 
    Ijsselhof, Rinske J.; Duchateau, Saniyé D.R.; Schouten, Rianne M.; Freund, Matthias W.; Heuser, Jörg; Fejzic, Zina; Haas, Felix; Schoof, Paul H.; Slieker, Martijn G. (Elsevier, 2020-04-01)
    OBJECTIVES: In hypoplastic left heart complex patients, biventricular repair is preferred over staged-single ventricle palliation; however, there are too few studies to support either strategy. Therefore, we retrospectively ...
  • Locoregional recurrence rate and disease-specific survival following marginal vs segmental resection for oral squamous cell carcinoma with mandibular bone invasion 
    Stoop, Celine C; de Bree, Remco; Rosenberg, Antoine J W P; van Gemert, Jan T M; Forouzanfar, Tim; Van Cann, Ellen M (Wiley-Liss Inc., 2020-09)
    Background and Objectives: To determine locoregional recurrence rate (LRR) and disease-specific survival (DSS) following marginal vs segmental mandibulectomy. Methods: Included were 210 patients, who had marginal or segmental ...
  • Carotid Intima-Media Thickness Progression as Surrogate Marker for Cardiovascular Risk: Meta-Analysis of 119 Clinical Trials Involving 100,667 Patients 
    Willeit, Peter; Tschiderer, Lena; Allara, Elias; Reuber, Kathrin; Seekircher, Lisa; Gao, Lu; Liao, Ximing; Lonn, Eva; Gerstein, Hertzel C; Yusuf, Salim; Brouwers, Frank P; Asselbergs, Folkert W; van Gilst, Wiek; Anderssen, Sigmund A; Grobbee, Diederick E; Kastelein, John J P; Visseren, Frank L J; Ntaios, George; Hatzitolios, Apostolos I; Savopoulos, Christos; Nieuwkerk, Pythia T; Stroes, Erik; Walters, Matthew; Higgins, Peter; Dawson, Jesse; Gresele, Paolo; Guglielmini, Giuseppe; Migliacci, Rino; Ezhov, Marat; Safarova, Maya; Balakhonova, Tatyana; Sato, Eiichi; Amaha, Mayuko; Nakamura, Tsukasa; Kapellas, Kostas; Jamieson, Lisa M; Skilton, Michael; Blumenthal, James A; Hinderliter, Alan; Sherwood, Andrew; Smith, Patrick J; van Agtmael, Michiel A; Reiss, Peter; van Vonderen, Marit G A; Kiechl, Stefan; Klingenschmid, Gerhard; Sitzer, Matthias; Stehouwer, Coen D A; Blankestijn, Peter J; Bots, Michiel L; PROG-IMT and the Proof-ATHERO Study Groups (Lippincott Williams & Wilkins, 2020-08-18)
    BACKGROUND: To quantify the association between effects of interventions on carotid intima-media thickness (cIMT) progression and their effects on cardiovascular disease (CVD) risk. METHODS: We systematically collated data ...