المؤلفون: Stejara A. Netea, Giske Biesbroek, Diana van Stijn, Hanna Ijspeert, Caspar I. van der Made, Machiel H. Jansen, Judy Geissler, J.M. (Merlijn) van den Berg, Martijn van der Kuip, Mariken P. Gruppen, Dieneke Schonenberg-Meinema, Berber Kapitein, A.M. (Marceline) Tutu van Furth, Sietse Q. Nagelkerke, Dasja Pajkrt, Frans B. Plötz, M.E.J. (Lisette) den Boer, Gijs W. Landman, Marlies A. van Houten, Ines Goetschalckx, Erik J.M. Toonen, Frank L. van de Veerdonk, Irene M. Kuipers, Willem A. Dik, Taco W. Kuijpers, T. Hendriks, M.K. Felderhof, N.M. Weggelaar, L. Filippini, L. Rozendaal, M. Groeneweg, R. Nuboer, M. Bruijn, K.M. Dolman, J.G. Noordzij, J.P. de Winter, A.M. Vlieger, F.B. Plötz, L.C. Delemarre

المصدر: EBioMedicine, Vol 95, Iss , Pp 104736- (2023)

مصطلحات موضوعية: Inflammation, Cytokines, Autoantibodies, Kawasaki disease, MIS-C, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396423003018; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/93828e5e066e4179b2b6ff7905fc558a

المؤلفون: Taco W. Kuijpers, Ester M.M. van Leeuwen, Barbara H. Barendregt, Paul Klarenbeek, Daan J. aan de Kerk, Paul A. Baars, Machiel H. Jansen, Niek de Vries, René A.W. van Lier, Mirjam van der Burg

المصدر: Haematologica, Vol 98, Iss 7 (2013)

مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5

وصف الملف: electronic resource

Relation: https://haematologica.org/article/view/6711; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

URL الوصول: https://doaj.org/article/3135c2c8e5d44233ad97b1a493673ae6

المؤلفون: Samantha A. M. Tromp, Marijn A. Gillissen, Sophie J. Bernelot Moens, Ester M. M. van Leeuwen, Machiel H. Jansen, Lianne Koens, Caroline E. Rutten, Taco W. Kuijpers

المساهمون: Pathology, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Infectious diseases, AII - Inflammatory diseases, Amsterdam Reproduction & Development (AR&D), Experimental Immunology, AII - Cancer immunology, Clinical Haematology

المصدر: Blood, 6(15), 4501-4505. American Society of Hematology
Tromp, S A M, Gillissen, M A, Bernelot Moens, S J, van Leeuwen, E M M, Jansen, M H, Koens, L, Rutten, C E & Kuijpers, T W 2022, ' Treatment of an HLH-mimic disease based on HAVCR2 variants with absent TIM-3 expression ', Blood, vol. 6, no. 15, pp. 4501-4505 . https://doi.org/10.1182/bloodadvances.2022007450
Blood advances, 6(15), 4501-4505. American Society of Hematology

مصطلحات موضوعية: Hematology, Hepatitis A Virus Cellular Receptor 2

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09e95baafaad3b563d8714067c4509f6
https://doi.org/10.1182/bloodadvances.2022007450

المؤلفون: William, Rae, John M, Sowerby, Dorit, Verhoeven, Mariam, Youssef, Prasanti, Kotagiri, Natalia, Savinykh, Eve L, Coomber, Alexis, Boneparth, Angela, Chan, Chun, Gong, Machiel H, Jansen, Romy, du Long, Giorgia, Santilli, Ilenia, Simeoni, Jonathan, Stephens, Kejia, Wu, Marta, Zinicola, Hana Lango, Allen, Helen, Baxendale, Dinakantha, Kumararatne, Effrossyni, Gkrania-Klotsas, Selma C, Scheffler Mendoza, Marco Antonio, Yamazaki-Nakashimada, Laura Berrón, Ruiz, Cesar Mauricio, Rojas-Maruri, Saul O, Lugo Reyes, Paul A, Lyons, Anthony P, Williams, Daniel J, Hodson, Gail A, Bishop, Adrian J, Thrasher, David C, Thomas, Michael P, Murphy, Timothy J, Vyse, Joshua D, Milner, Taco W, Kuijpers, Kenneth G C, Smith

المصدر: Science immunology. 7(74)

مصطلحات موضوعية: B-Lymphocytes, TNF Receptor-Associated Factor 3, Neoplasms, Mutation, Humans, Autoimmunity

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6e24d9e414ab0c7f3318dd753ec84764
https://pubmed.ncbi.nlm.nih.gov/35960817

المؤلفون: Paul Tuijnenburg, Ester M. M. van Leeuwen, Cor Lieftink, Roderick L. Beijersbergen, Machiel H. Jansen, Taco W. Kuijpers, Daan J. aan de Kerk, Ben Morris

المساهمون: Experimental Immunology, Graduate School, AII - Inflammatory diseases, Paediatric Infectious Diseases / Rheumatology / Immunology, Amsterdam Reproduction & Development (AR&D)

المصدر: European journal of immunology, 50(1), 73-85. Wiley-VCH Verlag
European Journal of Immunology

مصطلحات موضوعية: 0301 basic medicine, Morpholines, Adaptive immunity, Immunology, Aminopyridines, autoimmune disease, Biology, Lymphocyte Activation, medicine.disease_cause, plasma cells, Autoimmune Diseases, Autoimmunity, 03 medical and health sciences, 0302 clinical medicine, B‐cell activation and differentiation, Drug Discovery, medicine, Humans, Immunology and Allergy, Basic, Protein Kinase Inhibitors, Research Articles, PI3K/AKT/mTOR pathway, B cell, Autoantibodies, Sirolimus, Autoimmune disease, B-Lymphocytes, B cells, TOR Serine-Threonine Kinases, Autoantibody, PI3K‐AKT‐mTOR, Cell Differentiation, Acquired immune system, medicine.disease, High-Throughput Screening Assays, 030104 developmental biology, medicine.anatomical_structure, Purines, Antibody Formation, Cancer research, biology.protein, PI3K-AKT-mTOR, Research Article|Basic, Signal transduction, Antibody, B-cell activation and differentiation, 030215 immunology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::556cd75dbe1bf70f1c3de8414135808f
https://doi.org/10.1002/eji.201948241

المؤلفون: Eloy Cuadrado, Thijs Booiman, John L van Hamme, Machiel H Jansen, Karel A van Dort, Adeline Vanderver, Gillian I Rice, Yanick J Crow, Neeltje A Kootstra, Taco W Kuijpers

المصدر: PLoS ONE, Vol 10, Iss 12, p e0143613 (2015)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4667845?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/d06d1f73c7034b34910f667c3dc8179b

المؤلفون: Jovanka R King, Cristina Bottino, Patrick Quinn, Alexander Blank, Asbjørg Stray-Pedersen, Michael Gold, Ulrich Pannicke, Emily M. Mace, Lisa R. Forbes, Marwan Abu-Halaweh, Eva-Maria Jacobsen, Anton T.J. Tool, Sabrina Chiesa, Roberta Caorsi, Marco Gattorno, Silvia Giliani, Stefano Volpi, Jordan S. Orange, Ivan K. Chinn, Taco W. Kuijpers, Immacolata Brigida, Hamid Ahanchian, Paul Tuijnenburg, Federica Barzaghi, Bertrand Boisson, Zeynep Coban Akdemir, Gregor Dückers, Chris Pearson, Machiel H. Jansen, Alexander B. Meijer, Maria Pia Cicalese, Ansgar Schulz, Filiz O. Seeborg, Eloy Cuadrado, Hasan Tawamie, Ehsan Ghayoor Karimiani, Jean-Laurent Casanova, Raed Alzyoud, Tomasz Gambin, Stefania Marcenaro, Luigi D. Notarangelo, Anselm Enders, Rae S. M. Yeung, Klaus Schwarz, Reza Maroofian, Hans Christian Erichsen, Paolo Picco, Ester M. M. van Leeuwen, Tim Niehues, Ronald M. Laxer, James R. Lupski, Alessandro Aiuti

المساهمون: APH - Aging & Later Life, Volpi, S., Cicalese, M. P., Tuijnenburg, P., Tool, A. T. J., Cuadrado, E., Abu-Halaweh, M., Ahanchian, H., Alzyoud, R., Akdemir, Z. C., Barzaghi, F., Blank, A., Boisson, B., Bottino, C., Brigida, I., Caorsi, R., Casanova, J. -L., Chiesa, S., Chinn, I. K., Duckers, G., Enders, A., Erichsen, H. C., Forbes, L. R., Gambin, T., Gattorno, M., Karimiani, E. G., Giliani, S., Gold, M. S., Jacobsen, E. -M., Jansen, M. H., King, J. R., Laxer, R. M., Lupski, J. R., Mace, E., Marcenaro, S., Maroofian, R., Meijer, A. B., Niehues, T., Notarangelo, L. D., Orange, J., Pannicke, U., Pearson, C., Picco, P., Quinn, P. J., Schulz, A., Seeborg, F., Stray-Pedersen, A., Tawamie, H., van Leeuwen, E. M. M., Aiuti, A., Yeung, R., Schwarz, K., Kuijpers, T. W., Graduate School, Experimental Immunology, Paediatric Infectious Diseases / Rheumatology / Immunology, Landsteiner Laboratory, ARD - Amsterdam Reproduction and Development

المصدر: Journal of Allergy and Clinical Immunology, 143(6), 2296-2299. Mosby Inc.
Journal of allergy and clinical immunology, 143(6), 2296-2299. Mosby Inc.
Journal of Allergy and Clinical Immunology, 143(6), 2296. Mosby Inc.

مصطلحات موضوعية: Inflammation, Allergy, ARPC1B, Combined immunodeficiency, Infection, Thrombocytopenia, Extramural, business.industry, Immunology, medicine.disease, Immunologic Deficiency Syndromes, Article, Mutation (genetic algorithm), medicine, Immunology and Allergy, Infections inflammation, medicine.symptom, business, Immunodeficiency

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c41993e3bdfd1b3e9e98ef6538a9100e
https://doi.org/10.1016/j.jaci.2019.02.003

المؤلفون: Sandrine Florquin, Ester M. M. van Leeuwen, Jonas Johannes Papendorf, Frédéric Ebstein, Silvana van Koningsbruggen, Machiel H. Jansen, Dorit Verhoeven, Taco W. Kuijpers, Saskia M. Maas, J. Merlijn van den Berg, Mirjam van der Burg, Elke Krüger, Dieneke Schonenberg-Meinema, Paul A. Baars, Arjan C. Lankester

المساهمون: Graduate School, Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, Experimental Immunology, Pathology, Human Genetics, ANS - Cellular & Molecular Mechanisms, ANS - Complex Trait Genetics, ACS - Pulmonary hypertension & thrombosis, ARD - Amsterdam Reproduction and Development

المصدر: Journal of allergy and clinical immunology. Mosby Inc.
Journal of Allergy and Clinical Immunology, 149(3), 1120-1127.e8. MOSBY-ELSEVIER

مصطلحات موضوعية: Male, Proteasome Endopeptidase Complex, Myeloid, Lipodystrophy, medicine.medical_treatment, Immunology, autoinflammatory syndrome, Hematopoietic stem cell transplantation, PSMB4, inter-feron, immunoproteasome, medicine, Humans, Immunology and Allergy, Child, Retrospective Studies, business.industry, Hematopoietic Stem Cell Transplantation, X-linked lymphoproliferative disease, Syndrome, interferon, Gene signature, Autoinflammatory Syndrome, medicine.disease, medicine.anatomical_structure, surgical procedures, operative, proteasome, PRAAS, Proteasome assembly, HSCT, Autoinflammation, Proteasome maturation protein, business

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2b00577084f02766dc8a5c6d117fbaf
https://pure.amc.nl/en/publications/hematopoietic-stem-cell-transplantation-in-a-patient-with-proteasomeassociated-autoinflammatory-syndrome-praas(31630366-3491-4564-b3de-9f6e593d1a38).html

المؤلفون: Talia Hartley, Machteld M. Oud, Paul Tuijnenburg, Chela James, Hywel Williams, Taco W. Kuijpers, Machiel H. Jansen, Hans G. Brunner, Maja Hempel, Rui Li, Louise Ocaka, Polona Le Quesne Stabej, PL Beales, Catherine M. Cale, Steven T. Pals, Ronald J.A. Wanders, Zemin Ren, Naomi van Vlies, Davor Lessel, Heleen H. Arts, Rosalind Jane Davies, Christine Hall, Patricia Dias, Lucie Dupuis, Sacha Ferdinandusse, Tim M. Strom, E. Graham Davies, Chiara Bacchelli, Hartmut Engels, Jan-Maarten Cobben, René Santer, Jessika Johannsen, Marielle Alders, Sérgio B. Sousa, Ronald Roepman, Roberto Mendoza-Londono, Ingo Müller, Kai Lehmberg

المساهمون: Laboratory Genetic Metabolic Diseases, ARD - Amsterdam Reproduction and Development, Human Genetics, Paediatric Metabolic Diseases, Pathology, ANS - Cellular & Molecular Mechanisms, Paediatric Genetics, Paediatric Infectious Diseases / Rheumatology / Immunology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ACS - Pulmonary hypertension & thrombosis, MUMC+: DA Klinische Genetica (5), Klinische Genetica, RS: FHML non-thematic output

المصدر: American journal of human genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100(2), 281-296. Cell Press
American Journal of Human Genetics, 100, 281-296
American Journal of Human Genetics, 100, 2, pp. 281-296
Am. J. Hum. Genet. 100, 281-296 (2017)

مصطلحات موضوعية: 0301 basic medicine, DNA Copy Number Variations, Mutation, Missense, HEPARAN-SULFATE PROTEOGLYCANS, COPY-NUMBER VARIATION, 030105 genetics & heredity, Biology, N-Acetylglucosaminyltransferases, Osteochondrodysplasias, Article, CLASSIFICATION, Cell Line, Glycosaminoglycan, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, EXOME SEQUENCE DATA, Cell Line, Tumor, Genetics, medicine, Missense mutation, Humans, BIOSYNTHESIS, Genetics (clinical), Alleles, Glycosaminoglycans, Severe combined immunodeficiency, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], IDENTIFICATION, TUMOR SUPPRESSORS EXT1, Heparan sulfate, medicine.disease, Molecular biology, Phenotype, GENE, Musculoskeletal Abnormalities, Haematopoiesis, Renal disorders Radboud Institute for Molecular Life Sciences [Radboudumc 11], 030104 developmental biology, chemistry, Dysplasia, DE-NOVO MUTATIONS, Immunology, MORPHOGENESIS, Exostosin, Extl3, Heparan Sulfate, Neuro-immuno-skeletal Dysplasia, T Cell Scid, Severe Combined Immunodeficiency, Chondroitin, Genome-Wide Association Study

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b8b33f3e0c38cbbf870985c97c9fed
https://doi.org/10.1016/j.ajhg.2017.01.013

المؤلفون: Paul Tuijnenburg, Machiel H. Jansen, Daan J. aan de Kerk, Cor Lieftink, Taco W. Kuijpers, Roderick L. Beijersbergen, Ester M. M. van Leeuwen, Ben Morris

مصطلحات موضوعية: Antibody production, Human plasma, Biology, Discovery and development of mTOR inhibitors, Throughput (business), Cell biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a5a7aeac10fc2c5e33e3f2a315dea480
https://doi.org/10.1002/eji.201948241/v2/response1