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390 results on '"Nieuwenhuis, Edward E S"'

4. H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts

Author

Pei, Jiayi, Harakalova, Magdalena, Treibel, Thomas A., Lumbers, R Thomas, Boukens, Bastiaan J., Efimov, Igor R., van Dinter, Jip T., González, Arantxa, López, Begoña, El Azzouzi, Hamid, van den Dungen, Noortje, van Dijk, Christian G. M., Krebber, Merle M., den Ruijter, Hester M., Pasterkamp, Gerard, Duncker, Dirk J., Nieuwenhuis, Edward E. S., de Weger, Roel, Huibers, Manon M., Vink, Aryan, Moore, Jason H., Moon, James C., Verhaar, Marianne C., Kararigas, Georgios, Mokry, Michal, Asselbergs, Folkert W., and Cheng, Caroline

Published
2020
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5. The Effect of Genetic HLA Matching on Liver Transplantation Outcome: A Systematic Review and Meta-Analysis

Author

Metabole ziekten onderzoek 2, MDL patientenzorg, SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, MDL onderzoek 1, Onderzoek, CDL Cluster Speciële Diagnostiek, Cancer, Metabole ziekten patientenzorg, Kok, Gautam, Ilcken, Eveline F, Houwen, Roderick H J, Lindemans, Caroline A, Nieuwenhuis, Edward E S, Spierings, Eric, Fuchs, Sabine A, Metabole ziekten onderzoek 2, MDL patientenzorg, SCT patientenzorg, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, MDL onderzoek 1, Onderzoek, CDL Cluster Speciële Diagnostiek, Cancer, Metabole ziekten patientenzorg, Kok, Gautam, Ilcken, Eveline F, Houwen, Roderick H J, Lindemans, Caroline A, Nieuwenhuis, Edward E S, Spierings, Eric, and Fuchs, Sabine A

Published
2023

6. Prognostic factors for multi-organ dysfunction in pediatric oncology patients admitted to the pediatric intensive care unit

Author

Arts-assistenten Kinderen, Intensive care patientenzorg, Child Health, Other research (not in main researchprogram), MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Medische staf Anesthesiologie, Cancer, Circulatory Health, PMC Medisch specialisten, Soeteman, Marijn, Fiocco, Marta F, Nijman, Joppe, Bollen, Casper W, Marcelis, Maartje M, Kilsdonk, Ellen, Nieuwenhuis, Edward E S, Kappen, Teus H, Tissing, Wim J E, Wösten-van Asperen, Roelie M, Arts-assistenten Kinderen, Intensive care patientenzorg, Child Health, Other research (not in main researchprogram), MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Medische staf Anesthesiologie, Cancer, Circulatory Health, PMC Medisch specialisten, Soeteman, Marijn, Fiocco, Marta F, Nijman, Joppe, Bollen, Casper W, Marcelis, Maartje M, Kilsdonk, Ellen, Nieuwenhuis, Edward E S, Kappen, Teus H, Tissing, Wim J E, and Wösten-van Asperen, Roelie M

Published
2023

7. Chemotherapy-induced intestinal injury promotes Galectin-9-driven modulation of T cell function

Author

Cluster B, CMM Groep Coffer, Cancer, CTI Nierkens, Infection & Immunity, CTI Research, CDL Onderzoek Pasterkamp, Experimentele Afd. Cardiologie 1, Child Health, Circulatory Health, MDL onderzoek 1, Onderzoek, Regenerative Medicine and Stem Cells, CMM Sectie Stem Cells, SCT patientenzorg, Jansen, Suze A, Cutilli, Alessandro, de Koning, Coco, van Hoesel, Marliek, Sierra, Leire Saiz, Nierkens, Stefan, Mokry, Michal, Nieuwenhuis, Edward E S, Hanash, Alan M, Mocholi, Enric, Coffer, Paul J, Lindemans, Caroline A, Cluster B, CMM Groep Coffer, Cancer, CTI Nierkens, Infection & Immunity, CTI Research, CDL Onderzoek Pasterkamp, Experimentele Afd. Cardiologie 1, Child Health, Circulatory Health, MDL onderzoek 1, Onderzoek, Regenerative Medicine and Stem Cells, CMM Sectie Stem Cells, SCT patientenzorg, Jansen, Suze A, Cutilli, Alessandro, de Koning, Coco, van Hoesel, Marliek, Sierra, Leire Saiz, Nierkens, Stefan, Mokry, Michal, Nieuwenhuis, Edward E S, Hanash, Alan M, Mocholi, Enric, Coffer, Paul J, and Lindemans, Caroline A

Published
2023

8. Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2–4

Author

Stam, Marloes, primary, Wijngaarde, Camiel A, additional, Bartels, Bart, additional, Asselman, Fay-Lynn, additional, Otto, Louise A M, additional, Habets, Laura E, additional, van Eijk, Ruben P A, additional, Middelkoop, Bas M, additional, Goedee, H Stephan, additional, de Groot, Janke F, additional, Roes, Kit C B, additional, Schoenmakers, Marja A G C, additional, Nieuwenhuis, Edward E S, additional, Cuppen, Inge, additional, van den Berg, Leonard H, additional, Wadman, Renske I, additional, and van der Pol, W Ludo, additional

Published
2022
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9. An inducible mouse model for microvillus inclusion disease reveals a role for myosin Vb in apical and basolateral trafficking

Author

Schneeberger, Kerstin, Vogel, Georg F., Teunissen, Hans, van Ommen, Domenique D., Begthel, Harry, Bouazzaoui, Layla El, van Vugt, Anke H. M., Beekman, Jeffrey M., Klumperman, Judith, Müller, Thomas, Janecke, Andreas, Gerner, Patrick, Huber, Lukas A., Hess, Michael W., Clevers, Hans, van Es, Johan H., Nieuwenhuis, Edward E. S., and Middendorp, Sabine

Published
2015

10. Validation of a modified bedside Pediatric Early Warning System score for detection of clinical deterioration in hospitalized pediatric oncology patients: A prospective cohort study

Author

Soeteman, Marijn, primary, Kappen, Teus H., additional, van Engelen, Martine, additional, Marcelis, Maartje, additional, Kilsdonk, Ellen, additional, van den Heuvel‐Eibrink, Marry M., additional, Nieuwenhuis, Edward E. S., additional, Tissing, Wim J. E., additional, Fiocco, Marta, additional, and van Asperen, Roelie M. Wösten‐, additional

Published
2022
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12. Prognostic factors for multiorgan dysfunction in pediatric oncology patients admitted to the pediatric intensive care unit.

Author

Soeteman, Marijn, Fiocco, Marta F., Nijman, Joppe, Bollen, Casper W., Marcelis, Maartje M., Kilsdonk, Ellen, Nieuwenhuis, Edward E. S., Kappen, Teus H., Tissing, Wim J. E., and Wösten-van Asperen, Roelie M.

Subjects
PEDIATRIC oncology, INTENSIVE care units, PEDIATRIC intensive care, CANCER patients, PROGNOSIS
Abstract

Background: Pediatric oncology patients who require admission to the pediatric intensive care unit (PICU) have worse outcomes compared to their non-cancer peers. Although multi-organ dysfunction (MOD) plays a pivotal role in PICU mortality and morbidity, risk factors for MOD have not yet been identified. We aimed to identify risk factors at PICU admission for new or progressive MOD (NPMOD) during the first week of PICU stay. Methods: This retrospective cohort study included all pediatric oncology patients aged 0 to 18 years admitted to the PICU between June 2018 and June 2021. We used the recently published PODIUM criteria for defining multiorgan dysfunction and estimated the association between covariates at PICU baseline and the outcome NPMOD using a multivariable logistic regression model, with PICU admission as unit of study. To study the predictive performance, the model was internally validated by using bootstrap. Results: A total of 761 PICU admissions of 571 patients were included. NPMOD was present in 154 PICU admissions (20%). Patients with NPMOD had a high mortality compared to patients without NPMOD, 14% and 1.0% respectively. Hemato-oncological diagnosis, number of failing organs and unplanned admission were independent risk factors for NPMOD. The prognostic model had an overall good discrimination and calibration. Conclusion: The risk factors at PICU admission for NPMOD may help to identify patients who may benefit from closer monitoring and early interventions. When applying the PODIUM criteria, we found some opportunities for fine-tuning these criteria for pediatric oncology patients, that need to be validated in future studies. [ABSTRACT FROM AUTHOR]

Published
2023
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14. Transfusion burden in early childhood plays an important role in iron overload in Diamond‐Blackfan anaemia

Author

de Wilde, Jonathan R. A., primary, van Dooijeweert, Birgit, additional, van Vuren, Annelies J., additional, Huisman, Elise J., additional, Smiers, Frans J., additional, van der Veer, Arian, additional, van Wijk, Richard, additional, van Solinge, Wouter W., additional, Nieuwenhuis, Edward E. S., additional, van Beers, Eduard J., additional, and Bartels, Marije, additional

Published
2022
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15. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Author

Interne geneeskunde GD, dCSCA RMSC-1, CS_STEAM, Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, Fuchs, Sabine A, Interne geneeskunde GD, dCSCA RMSC-1, CS_STEAM, Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, and Fuchs, Sabine A

Published
2022

16. Transfusion Burden in Early Childhood Plays an Important Role in Iron Overload in Diamond-Blackfan Anaemia

Author

Huisman, Elise, de Wilde, Jonathan R.A., van Dooijeweert, B, van Vuren, Annelies, Smiers, Frans, van der Veer, Arian, van Wijk, Richard, van Solinge, W, Nieuwenhuis, Edward E S, van Beers, Eduard J., Bartels, Marije, Huisman, Elise, de Wilde, Jonathan R.A., van Dooijeweert, B, van Vuren, Annelies, Smiers, Frans, van der Veer, Arian, van Wijk, Richard, van Solinge, W, Nieuwenhuis, Edward E S, van Beers, Eduard J., and Bartels, Marije

Abstract

In Diamond-Blackfan anaemia (DBA), iron overload (IO) is common in transfusiondependent patients, yet has also been reported in non-transfusion-dependent patients. We explored the incidence of IO in transfusion-dependent and non-transfusiondependent DBA patients. We observed hepatic IO in 65% of patients analysed with MRI, including three patients that were only treated with transfusions in the past. Whereas overall ferritin levels and liver iron content correlated, ferritin levels did not reflect total body iron adequately. Our data suggest that transfusion burden in the past plays an important role in IO in DBA, and should be taken into account during follow up.

Published
2022

17. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Author

Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, Fuchs, Sabine A, Lehmann, Vivian, Schene, Imre F, Ardisasmita, Arif I, Liv, Nalan, Veenendaal, Tineke, Klumperman, Judith, van der Doef, Hubert P J, Verkade, Henkjan J, Verstegen, Monique M A, van der Laan, Luc J W, Jans, Judith J M, Verhoeven-Duif, Nanda M, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Spee, Bart, and Fuchs, Sabine A

Abstract

Inborn errors of metabolism (IEMs) comprise a diverse group of individually rare monogenic disorders that affect metabolic pathways. Mutations lead to enzymatic deficiency or dysfunction, which results in intermediate metabolite accumulation or deficit leading to disease phenotypes. Currently, treatment options for many IEMs are insufficient. Rarity of individual IEMs hampers therapy development and phenotypic and genetic heterogeneity suggest beneficial effects of personalized approaches. Recently, cultures of patient-own liver-derived intrahepatic cholangiocyte organoids (ICOs) have been established. Since most metabolic genes are expressed in the liver, patient-derived ICOs represent exciting possibilities for in vitro modeling and personalized drug testing for IEMs. However, the exact application range of ICOs remains unclear. To address this, we examined which metabolic pathways can be studied with ICOs and what the potential and limitations of patient-derived ICOs are to model metabolic functions. We present functional assays in patient ICOs with defects in branched-chain amino acid metabolism (methylmalonic acidemia), copper metabolism (Wilson disease), and transporter defects (cystic fibrosis). We discuss the broad range of functional assays that can be applied to ICOs, but also address the limitations of these patient-specific cell models. In doing so, we aim to guide the selection of the appropriate cell model for studies of a specific disease or metabolic process.

Published
2022

18. Challenges and opportunities targeting mechanisms of epithelial injury and recovery in acute intestinal graft-versus-host disease

Author

Cluster B, SCT patientenzorg, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Jansen, Suze A, Nieuwenhuis, Edward E S, Hanash, Alan M, Lindemans, Caroline A, Cluster B, SCT patientenzorg, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Child Health, Jansen, Suze A, Nieuwenhuis, Edward E S, Hanash, Alan M, and Lindemans, Caroline A

Published
2022

19. Transfusion burden in early childhood plays an important role in iron overload in Diamond-Blackfan anaemia

Author

CDL Rode cel, Cancer, Unit Opleiding Aios, CDL Cluster Speciële Diagnostiek, Child Health, Circulatory Health, Centraal Diagnostisch Laboratorium, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Poli Van Creveldkliniek Medisch, Haematologie patientenzorg, de Wilde, Jonathan R A, van Dooijeweert, Birgit, van Vuren, Annelies J, Huisman, Elise J, Smiers, Frans J, van der Veer, Arian, van Wijk, Richard, van Solinge, Wouter W, Nieuwenhuis, Edward E S, van Beers, Eduard J, Bartels, Marije, CDL Rode cel, Cancer, Unit Opleiding Aios, CDL Cluster Speciële Diagnostiek, Child Health, Circulatory Health, Centraal Diagnostisch Laboratorium, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Poli Van Creveldkliniek Medisch, Haematologie patientenzorg, de Wilde, Jonathan R A, van Dooijeweert, Birgit, van Vuren, Annelies J, Huisman, Elise J, Smiers, Frans J, van der Veer, Arian, van Wijk, Richard, van Solinge, Wouter W, Nieuwenhuis, Edward E S, van Beers, Eduard J, and Bartels, Marije

Published
2022

20. A comprehensive transcriptomic comparison of hepatocyte model systems improves selection of models for experimental use

Author

Metabole ziekten onderzoek 2, CDL Onderzoek Pasterkamp, Experimentele Afd. Cardiologie 1, Child Health, Circulatory Health, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Metabole ziekten patientenzorg, Ardisasmita, Arif Ibrahim, Schene, Imre F, Joore, Indi P, Kok, Gautam, Hendriks, Delilah, Artegiani, Benedetta, Mokry, Michal, Nieuwenhuis, Edward E S, Fuchs, Sabine A, Metabole ziekten onderzoek 2, CDL Onderzoek Pasterkamp, Experimentele Afd. Cardiologie 1, Child Health, Circulatory Health, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, Metabole ziekten patientenzorg, Ardisasmita, Arif Ibrahim, Schene, Imre F, Joore, Indi P, Kok, Gautam, Hendriks, Delilah, Artegiani, Benedetta, Mokry, Michal, Nieuwenhuis, Edward E S, and Fuchs, Sabine A

Published
2022

21. Mogelijke toepassingen van organoïden in de geneeskunde

Author

Longziekten onderzoek 2, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, MDL onderzoek 1, Onderzoek, Infection & Immunity, Mijnders, Marjolein, Fuchs, Sabine A, Nieuwenhuis, Edward E S, Longziekten onderzoek 2, Metabole ziekten patientenzorg, Child Health, Regenerative Medicine and Stem Cells, MDL onderzoek 1, Onderzoek, Infection & Immunity, Mijnders, Marjolein, Fuchs, Sabine A, and Nieuwenhuis, Edward E S

Published
2022

24. Randomized double-blind placebo-controlled crossover trial with pyridostigmine in spinal muscular atrophy types 2-4.

Author

Stam, Marloes, Wijngaarde, Camiel A., Bartels, Bart, Asselman, Fay-Lynn, Otto, Louise A. M., Habets, Laura E., van Eijk, Ruben P. A., Middelkoop, Bas M., Goedee, H. Stephan, de Groot, Janke F., Roes, Kit C. B., Schoenmakers, Marja A. G. C., Nieuwenhuis, Edward E. S., Cuppen, Inge, van den Berg, Leonard H., Wadman, Renske I., and van der Pol, W. Ludo

Published
2023
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25. The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism

Author

Lehmann, Vivian, primary, Schene, Imre F., additional, Ardisasmita, Arif I., additional, Liv, Nalan, additional, Veenendaal, Tineke, additional, Klumperman, Judith, additional, van der Doef, Hubert P. J., additional, Verkade, Henkjan J., additional, Verstegen, Monique M. A., additional, van der Laan, Luc J. W., additional, Jans, Judith J. M., additional, Verhoeven‐Duif, Nanda M., additional, van Hasselt, Peter M., additional, Nieuwenhuis, Edward E. S., additional, Spee, Bart, additional, and Fuchs, Sabine A., additional

Published
2021
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26. Human buccal epithelium acquires microbial hyporesponsiveness at birth, a role for secretory leukocyte protease inhibitor

Author

Menckeberg, Celia L, Hol, Jeroen, Simons-Oosterhuis, Ytje, Raatgeep, H (Rolien) C, de Ruiter, Lilian F, Lindenbergh-Kortleve, Dicky J, Korteland-van Male, Anita M, El Aidy, Sahar, van Lierop, Pieter P E, Kleerebezem, Michiel, Groeneweg, Michael, Kraal, Georg, Elink-Schuurman, Beatrix E, de Jongste, Johan C, Nieuwenhuis, Edward E S, and Samsom, Janneke N

Published
2015
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27. A functional CFTR assay using primary cystic fibrosis intestinal organoids

Author

Dekkers, Johanna F., Wiegerinck, Caroline L., de Jonge, Hugo R., Bronsveld, Inez, Janssens, Hettie M., de Winter-de Groot, Karin M., Brandsma, Arianne M., de Jong, Nienke W. M., Bijvelds, Marcel J. C., Scholte, Bob J., Nieuwenhuis, Edward E. S., van den Brink, Stieneke, Clevers, Hans, van der Ent, Cornelis K., Middendorp, Sabine, and Beekman, Jeffrey M.

Subjects
Cystic fibrosis -- Technology application -- Drug therapy, Biological sciences, Health
Abstract

We recently established conditions allowing for long-term expansion of epithelial organoids from intestine, recapitulating essential features of the in vivo tissue architecture. Here we apply this technology to study primary [...]

Published
2013
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28. Metabolic Fingerprint in Hereditary Spherocytosis Correlates With Red Blood Cell Characteristics and Clinical Severity

Author

van Dooijeweert, Birgit, primary, Broeks, Melissa H., additional, Verhoeven-Duif, Nanda M., additional, van Solinge, Wouter W., additional, van Beers, Eduard J., additional, Rab, Minke A. E., additional, Nieuwenhuis, Edward E. S., additional, Jans, Judith J. M., additional, Bartels, Marije, additional, and van Wijk, Richard, additional

Published
2021
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29. Erratum: DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells

Author

Child Health, MDL onderzoek 2, Cancer, CMM Groep Klumperman, CMM Sectie Celbiologie, Brain, Regenerative Medicine and Stem Cells, MDL onderzoek 1, Onderzoek, Infection & Immunity, MDL patientenzorg, van Rijn, Jorik M, van Hoesel, Marliek, de Heus, Cecilia, van Vugt, Anke H M, Klumperman, Judith, Nieuwenhuis, Edward E S, Houwen, Roderick H J, Middendorp, Sabine, Child Health, MDL onderzoek 2, Cancer, CMM Groep Klumperman, CMM Sectie Celbiologie, Brain, Regenerative Medicine and Stem Cells, MDL onderzoek 1, Onderzoek, Infection & Immunity, MDL patientenzorg, van Rijn, Jorik M, van Hoesel, Marliek, de Heus, Cecilia, van Vugt, Anke H M, Klumperman, Judith, Nieuwenhuis, Edward E S, Houwen, Roderick H J, and Middendorp, Sabine

Published
2021

30. Identifying the critically ill paediatric oncology patient: a study protocol for a prospective observational cohort study for validation of a modified Bedside Paediatric Early Warning System score in hospitalised paediatric oncology patients

Author

Arts-assistenten Kinderen, Medische staf Anesthesiologie, Circulatory Health, Intensive care patientenzorg, MDL onderzoek 1, Onderzoek, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, PMC Medisch specialisten, Speerpunt, Zorg en O&O, Soeteman, Marijn, Kappen, Teus H, van Engelen, Martine, Kilsdonk, Ellen, Koomen, Erik, Nieuwenhuis, Edward E S, Tissing, Wim J E, Fiocco, Marta, van den Heuvel-Eibrink, Marry, Wösten-van Asperen, Roelie M, Arts-assistenten Kinderen, Medische staf Anesthesiologie, Circulatory Health, Intensive care patientenzorg, MDL onderzoek 1, Onderzoek, Child Health, Infection & Immunity, Regenerative Medicine and Stem Cells, PMC Medisch specialisten, Speerpunt, Zorg en O&O, Soeteman, Marijn, Kappen, Teus H, van Engelen, Martine, Kilsdonk, Ellen, Koomen, Erik, Nieuwenhuis, Edward E S, Tissing, Wim J E, Fiocco, Marta, van den Heuvel-Eibrink, Marry, and Wösten-van Asperen, Roelie M

Published
2021

31. Dried blood spot metabolomics reveals a metabolic fingerprint with diagnostic potential for Diamond Blackfan Anaemia

Author

CDL Rode cel, Genetica Sectie Metabole Diagnostiek, Cancer, Poli Van Creveldkliniek Medisch, Child Health, Centraal Diagnostisch Laboratorium, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, CDL Arcadia, Circulatory Health, Haematologie patientenzorg, van Dooijeweert, Birgit, Broeks, Melissa H, van Beers, Eduard J, Verhoeven-Duif, Nanda M, van Solinge, Wouter W, Nieuwenhuis, Edward E S, Jans, Judith J, van Wijk, Richard, Bartels, Marije, CDL Rode cel, Genetica Sectie Metabole Diagnostiek, Cancer, Poli Van Creveldkliniek Medisch, Child Health, Centraal Diagnostisch Laboratorium, MDL onderzoek 1, Onderzoek, Infection & Immunity, Regenerative Medicine and Stem Cells, CDL Arcadia, Circulatory Health, Haematologie patientenzorg, van Dooijeweert, Birgit, Broeks, Melissa H, van Beers, Eduard J, Verhoeven-Duif, Nanda M, van Solinge, Wouter W, Nieuwenhuis, Edward E S, Jans, Judith J, van Wijk, Richard, and Bartels, Marije

Published
2021

32. Untargeted metabolic profiling in dried blood spots identifies disease fingerprint for pyruvate kinase deficiency

Author

CDL Rode cel, Genetica Sectie Metabole Diagnostiek, Genetica, Cancer, Child Health, Poli Van Creveldkliniek Medisch, Onderzoek, MDL onderzoek 1, Infection & Immunity, Regenerative Medicine and Stem Cells, Centraal Diagnostisch Laboratorium, Haematologie patientenzorg, CDL Arcadia, Circulatory Health, Van Dooijeweert, Birgit, Broeks, Melissa H, Verhoeven-Duif, Nanda M, Van Beers, Eduard J, Nieuwenhuis, Edward E S, Van Solinge, Wouter W, Bartels, Marije, Jans, Judith J, Van Wijk, Richard, CDL Rode cel, Genetica Sectie Metabole Diagnostiek, Genetica, Cancer, Child Health, Poli Van Creveldkliniek Medisch, Onderzoek, MDL onderzoek 1, Infection & Immunity, Regenerative Medicine and Stem Cells, Centraal Diagnostisch Laboratorium, Haematologie patientenzorg, CDL Arcadia, Circulatory Health, Van Dooijeweert, Birgit, Broeks, Melissa H, Verhoeven-Duif, Nanda M, Van Beers, Eduard J, Nieuwenhuis, Edward E S, Van Solinge, Wouter W, Bartels, Marije, Jans, Judith J, and Van Wijk, Richard

Published
2021

36. Identifying the critically ill paediatric oncology patient: a study protocol for a prospective observational cohort study for validation of a modified Bedside Paediatric Early Warning System score in hospitalised paediatric oncology patients

Author

Soeteman, Marijn, primary, Kappen, Teus H, additional, van Engelen, Martine, additional, Kilsdonk, Ellen, additional, Koomen, Erik, additional, Nieuwenhuis, Edward E S, additional, Tissing, Wim J E, additional, Fiocco, Marta, additional, van den Heuvel-Eibrink, Marry, additional, and Wösten-van Asperen, Roelie M, additional

Published
2021
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37. Additional file 4 of H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts

Author

Jiayi Pei, Harakalova, Magdalena, Treibel, Thomas A., R Thomas Lumbers, Boukens, Bastiaan J., Efimov, Igor R., Dinter, Jip T. Van, González, Arantxa, López, Begoña, Azzouzi, Hamid El, Dungen, Noortje Van Den, Dijk, Christian G. M. Van, Krebber, Merle M., Ruijter, Hester M. Den, Pasterkamp, Gerard, Duncker, Dirk J., Nieuwenhuis, Edward E. S., Weger, Roel De, Huibers, Manon M., Vink, Aryan, Moore, Jason H., Moon, James C., Verhaar, Marianne C., Kararigas, Georgios, Mokry, Michal, Asselbergs, Folkert W., and Cheng, Caroline

Abstract

Additional file 4 Supplementary Figure 4. The mRNA expression level of cell-type-specific markers. Genes labeled red and blue were significantly up- and downregulated in patients versus controls (p < 0.05).

Published
2020
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38. Additional file 13 of H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts

Author

Jiayi Pei, Harakalova, Magdalena, Treibel, Thomas A., R Thomas Lumbers, Boukens, Bastiaan J., Efimov, Igor R., Dinter, Jip T. Van, González, Arantxa, López, Begoña, Azzouzi, Hamid El, Dungen, Noortje Van Den, Dijk, Christian G. M. Van, Krebber, Merle M., Ruijter, Hester M. Den, Pasterkamp, Gerard, Duncker, Dirk J., Nieuwenhuis, Edward E. S., Weger, Roel De, Huibers, Manon M., Vink, Aryan, Moore, Jason H., Moon, James C., Verhaar, Marianne C., Kararigas, Georgios, Mokry, Michal, Asselbergs, Folkert W., and Cheng, Caroline

Abstract

Additional file 13. Supplementary Table 7. Overview of included samples in H3K27ac ChIP-seq, RNAPII ChIP-seq, and RNA-seq experiments.

Published
2020
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39. Additional file 5 of H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts

Author

Jiayi Pei, Harakalova, Magdalena, Treibel, Thomas A., R Thomas Lumbers, Boukens, Bastiaan J., Efimov, Igor R., Dinter, Jip T. Van, González, Arantxa, López, Begoña, Azzouzi, Hamid El, Dungen, Noortje Van Den, Dijk, Christian G. M. Van, Krebber, Merle M., Ruijter, Hester M. Den, Pasterkamp, Gerard, Duncker, Dirk J., Nieuwenhuis, Edward E. S., Weger, Roel De, Huibers, Manon M., Vink, Aryan, Moore, Jason H., Moon, James C., Verhaar, Marianne C., Kararigas, Georgios, Mokry, Michal, Asselbergs, Folkert W., and Cheng, Caroline

Abstract

Additional file 5. Supplementary Figure 5. Gene Ontology (GO) analysis of genes annotated to DARs using ToppFun. a Molecular function enrichment for hyperacetylated regions, b Biological process for hyperacetylated regions, c Cellular component for hyperacetylated regions, d Molecular function for hypoacetylated regions, e Biological process for hypoacetylated regions, f Cellular component for hypoacetylated regions.

Published
2020
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40. Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

Author

van Rijn, Jorik M., Werner, Lael, Aydemir, Yusuf, Spronck, Joey M. A., Pode-Shakked, Ben, van Hoesel, Marliek, Shimshoni, Elee, Polak-Charcon, Sylvie, Talmi, Liron, Eren, Makbule, Weiss, Batia, Houwen, Roderick H. J., Barshack, Iris, Somech, Raz, Nieuwenhuis, Edward E. S., Sagi, Irit, Raas-Rothschild, Annick, Middendorp, Sabine, Shouval, Dror S., van Rijn, Jorik M., Werner, Lael, Aydemir, Yusuf, Spronck, Joey M. A., Pode-Shakked, Ben, van Hoesel, Marliek, Shimshoni, Elee, Polak-Charcon, Sylvie, Talmi, Liron, Eren, Makbule, Weiss, Batia, Houwen, Roderick H. J., Barshack, Iris, Somech, Raz, Nieuwenhuis, Edward E. S., Sagi, Irit, Raas-Rothschild, Annick, Middendorp, Sabine, and Shouval, Dror S.

Abstract

Hyaline fibromatosis syndrome (HFS), resulting from ANTXR2 mutations, is an ultra-rare disease that causes intestinal lymphangiectasia and protein-losing enteropathy (PLE). The mechanisms leading to the gastrointestinal phenotype in these patients are not well defined. We present two patients with congenital diarrhea, severe PLE and unique clinical features resulting from deleterious ANTXR2 mutations. Intestinal organoids were generated from one of the patients, along with CRISPR-Cas9 ANTXR2 knockout, and compared with organoids from two healthy controls. The ANTXR2-deficient organoids displayed normal growth and polarity, compared to controls. Using an anthrax-toxin assay we showed that the c.155C>T mutation causes loss-of-function of ANTXR2 protein. An intrinsic defect of monolayer formation in patient-derived or ANTXR2(KO) organoids was not apparent, suggesting normal epithelial function. However, electron microscopy and second harmonic generation imaging showed abnormal collagen deposition in duodenal samples of these patients. Specifically, collagen VI, which is known to bind ANTXR2, was highly expressed in the duodenum of these patients. In conclusion, despite resistance to anthrax-toxin, epithelial cell function, and specifically monolayer formation, is intact in patients with HFS. Nevertheless, loss of ANTXR2-mediated signaling leads to collagen VI accumulation in the duodenum and abnormal extracellular matrix composition, which likely plays a role in development of PLE., De två första författarna delar förstaförfattarskapet.

Published
2020
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41. Enhanced Collagen Deposition in the Duodenum of Patients with Hyaline Fibromatosis Syndrome and Protein Losing Enteropathy

Author

Child Health, MDL onderzoek 2, MS CGO, MDL patientenzorg, Onderzoek, MDL onderzoek 1, Infection & Immunity, Regenerative Medicine and Stem Cells, van Rijn, Jorik M, Werner, Lael, Aydemir, Yusuf, Spronck, Joey M A, Pode-Shakked, Ben, van Hoesel, Marliek, Shimshoni, Elee, Polak-Charcon, Sylvie, Talmi, Liron, Eren, Makbule, Weiss, Batia, H J Houwen, Roderick, Barshack, Iris, Somech, Raz, Nieuwenhuis, Edward E S, Sagi, Irit, Raas-Rothschild, Annick, Middendorp, Sabine, Shouval, Dror S, Child Health, MDL onderzoek 2, MS CGO, MDL patientenzorg, Onderzoek, MDL onderzoek 1, Infection & Immunity, Regenerative Medicine and Stem Cells, van Rijn, Jorik M, Werner, Lael, Aydemir, Yusuf, Spronck, Joey M A, Pode-Shakked, Ben, van Hoesel, Marliek, Shimshoni, Elee, Polak-Charcon, Sylvie, Talmi, Liron, Eren, Makbule, Weiss, Batia, H J Houwen, Roderick, Barshack, Iris, Somech, Raz, Nieuwenhuis, Edward E S, Sagi, Irit, Raas-Rothschild, Annick, Middendorp, Sabine, and Shouval, Dror S

Published
2020

42. Prime editing for functional repair in patient-derived disease models

Author

Laboranten CT Radiologie, Metabole ziekten onderzoek 2, Child Health, Utrecht Valorisatie Centrum, CMM Groep Cuppen, Metabole ziekten patientenzorg, Infection & Immunity, Onderzoek, MDL onderzoek 1, Regenerative Medicine and Stem Cells, Zorg en O&O, Schene, Imre F, Joore, Indi P, Oka, Rurika, Mokry, Michal, van Vugt, Anke H M, van Boxtel, Ruben, van der Doef, Hubert P J, van der Laan, Luc J W, Verstegen, Monique M A, van Hasselt, Peter M, Nieuwenhuis, Edward E S, Fuchs, Sabine A, Laboranten CT Radiologie, Metabole ziekten onderzoek 2, Child Health, Utrecht Valorisatie Centrum, CMM Groep Cuppen, Metabole ziekten patientenzorg, Infection & Immunity, Onderzoek, MDL onderzoek 1, Regenerative Medicine and Stem Cells, Zorg en O&O, Schene, Imre F, Joore, Indi P, Oka, Rurika, Mokry, Michal, van Vugt, Anke H M, van Boxtel, Ruben, van der Doef, Hubert P J, van der Laan, Luc J W, Verstegen, Monique M A, van Hasselt, Peter M, Nieuwenhuis, Edward E S, and Fuchs, Sabine A

Published
2020

43. H3K27ac acetylome signatures reveal the epigenomic reorganization in remodeled non-failing human hearts

Author

Onderzoek Precision medicine, Other research (not in main researchprogram), Cardiologie Arts-onderzoekers, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, CDL Onderzoek Pasterkamp, UMC Utrecht, Onderzoek, MDL onderzoek 1, Infection & Immunity, Child Health, Pathologie Laboratorium diagnostiek, Genetica Sectie Genoomdiagnostiek, Pathologie Pathologen staf, Team Medisch, Pei, Jiayi, Harakalova, Magdalena, Treibel, Thomas A, Lumbers, R Thomas, Boukens, Bastiaan J, Efimov, Igor R, van Dinter, Jip T, González, Arantxa, López, Begoña, El Azzouzi, Hamid, van den Dungen, Noortje, van Dijk, Christian G M, Krebber, Merle M, den Ruijter, Hester M, Pasterkamp, Gerard, Duncker, Dirk J, Nieuwenhuis, Edward E S, de Weger, Roel, Huibers, Manon M, Vink, Aryan, Moore, Jason H, Moon, James C, Verhaar, Marianne C, Kararigas, Georgios, Mokry, Michal, Asselbergs, Folkert W, Cheng, Caroline, Onderzoek Precision medicine, Other research (not in main researchprogram), Cardiologie Arts-onderzoekers, Nefro Vasculaire Geneeskunde, Regenerative Medicine and Stem Cells, Onderzoek Vrouw Hart & Vaatziekten, Circulatory Health, CDL Onderzoek Pasterkamp, UMC Utrecht, Onderzoek, MDL onderzoek 1, Infection & Immunity, Child Health, Pathologie Laboratorium diagnostiek, Genetica Sectie Genoomdiagnostiek, Pathologie Pathologen staf, Team Medisch, Pei, Jiayi, Harakalova, Magdalena, Treibel, Thomas A, Lumbers, R Thomas, Boukens, Bastiaan J, Efimov, Igor R, van Dinter, Jip T, González, Arantxa, López, Begoña, El Azzouzi, Hamid, van den Dungen, Noortje, van Dijk, Christian G M, Krebber, Merle M, den Ruijter, Hester M, Pasterkamp, Gerard, Duncker, Dirk J, Nieuwenhuis, Edward E S, de Weger, Roel, Huibers, Manon M, Vink, Aryan, Moore, Jason H, Moon, James C, Verhaar, Marianne C, Kararigas, Georgios, Mokry, Michal, Asselbergs, Folkert W, and Cheng, Caroline

Published
2020

44. Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity

Author

Metabole ziekten onderzoek 1, Cancer, LKCH Staf Patiëntenzorg, CTI Nierkens, Infection & Immunity, CDL Klinisch Chemici in opleiding, MDL onderzoek 1, Child Health, Regenerative Medicine and Stem Cells, Zorg en O&O, Metabole ziekten patientenzorg, CMM Groep Klumperman, CMM Sectie Celbiologie, Brain, CDL Staf Patiëntenzorg KC, Other research (not in main researchprogram), CDL Patiëntenzorg MI, CTI Research, Cluster C, Kuper, Willemijn F E, Oostendorp, Marlies, van den Broek, Brigitte T A, van Veghel, Karin, Nonkes, Lourens J P, Nieuwenhuis, Edward E S, Fuchs, Sabine A, Veenendaal, Tineke, Klumperman, Judith, Huisman, Albert, Nierkens, Stefan, van Hasselt, Peter M, Metabole ziekten onderzoek 1, Cancer, LKCH Staf Patiëntenzorg, CTI Nierkens, Infection & Immunity, CDL Klinisch Chemici in opleiding, MDL onderzoek 1, Child Health, Regenerative Medicine and Stem Cells, Zorg en O&O, Metabole ziekten patientenzorg, CMM Groep Klumperman, CMM Sectie Celbiologie, Brain, CDL Staf Patiëntenzorg KC, Other research (not in main researchprogram), CDL Patiëntenzorg MI, CTI Research, Cluster C, Kuper, Willemijn F E, Oostendorp, Marlies, van den Broek, Brigitte T A, van Veghel, Karin, Nonkes, Lourens J P, Nieuwenhuis, Edward E S, Fuchs, Sabine A, Veenendaal, Tineke, Klumperman, Judith, Huisman, Albert, Nierkens, Stefan, and van Hasselt, Peter M

Published
2020

45. Ethical challenges for pediatric liver organoid transplantation

Author

Medical Humanities Onderzoek Team 2, JC onderzoeksprogramma Methodologie, Circulatory Health, UMC Utrecht, Global Public Health & Bioethics, Regenerative Medicine and Stem Cells, Bioethics & Health Humanities, Julius Centrum, MDL onderzoek 1, Infection & Immunity, Child Health, Zorg en O&O, Metabole ziekten patientenzorg, Medical Humanities Onderzoek Team 1, Schneemann, Sarah A, Boers, Sarah N, van Delden, Johannes J M, Nieuwenhuis, Edward E S, Fuchs, Sabine A, Bredenoord, Annelien L, Medical Humanities Onderzoek Team 2, JC onderzoeksprogramma Methodologie, Circulatory Health, UMC Utrecht, Global Public Health & Bioethics, Regenerative Medicine and Stem Cells, Bioethics & Health Humanities, Julius Centrum, MDL onderzoek 1, Infection & Immunity, Child Health, Zorg en O&O, Metabole ziekten patientenzorg, Medical Humanities Onderzoek Team 1, Schneemann, Sarah A, Boers, Sarah N, van Delden, Johannes J M, Nieuwenhuis, Edward E S, Fuchs, Sabine A, and Bredenoord, Annelien L

Published
2020

47. Quantifying lymphocyte vacuolization serves as a measure ofCLN3disease severity

Author

Kuper, Willemijn F. E., primary, Oostendorp, Marlies, additional, van den Broek, Brigitte T. A., additional, van Veghel, Karin, additional, Nonkes, Lourens J. P., additional, Nieuwenhuis, Edward E. S., additional, Fuchs, Sabine A., additional, Veenendaal, Tineke, additional, Klumperman, Judith, additional, Huisman, Albert, additional, Nierkens, Stefan, additional, and van Hasselt, Peter M., additional

Published
2020
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