Zobrazeno 1 - 10
of 244
pro vyhledávání: '"Peter J van der Spek"'
Autor:
Tanja C W Nijboer, Ellen V S Hessel, Gijs W van Haaften, Martine J van Zandvoort, Peter J van der Spek, Christine Troelstra, Carolien G F de Kovel, Bobby P C Koeleman, Bert van der Zwaag, Eva H Brilstra, J Peter H Burbach
Publikováno v:
PLoS ONE, Vol 18, Iss 9, p e0290013 (2023)
Colour agnosia is a disorder that impairs colour knowledge (naming, recognition) despite intact colour perception. Previously, we have identified the first and only-known family with hereditary developmental colour agnosia. The aim of the current stu
Externí odkaz:
https://doaj.org/article/437e002c511c4c28b84eb313bb4302a8
Autor:
Rina La Distia Nora, Ratna Sitompul, Marleen Bakker, Marjan A Versnel, Sigrid M A Swagemakers, Peter J van der Spek, Made Susiyanti, Lukman Edwar, Soedarman Sjamsoe, Gurmeet Singh, Rr Diah Handayani, Aniki Rothova, P Martin van Hagen, Willem A Dik
Publikováno v:
PLoS ONE, Vol 13, Iss 10, p e0206073 (2018)
QuantiFERON-Gold TB (QFT)-positive patients with undetermined cause of uveitis are problematic in terms of whether to diagnose and treat them for tuberculosis (TB). Here, we investigated whether peripheral blood expression of type 1 interferon (IFN)-
Externí odkaz:
https://doaj.org/article/8298dbc53c5046e4bf7d049e35dac3a0
Autor:
Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Debbie van den Berg, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Publikováno v:
PLoS Genetics, Vol 13, Iss 8, p e1006923 (2017)
[This corrects the article DOI: 10.1371/journal.pgen.1006809.].
Externí odkaz:
https://doaj.org/article/3a3afe24956e482688a3d4aa5b6b3abb
Autor:
Renske Oegema, David Baillat, Rachel Schot, Leontine M van Unen, Alice Brooks, Sima Kheradmand Kia, A Jeannette M Hoogeboom, Zheng Xia, Wei Li, Matteo Cesaroni, Maarten H Lequin, Marjon van Slegtenhorst, William B Dobyns, Irenaeus F M de Coo, Frans W Verheijen, Andreas Kremer, Peter J van der Spek, Daphne Heijsman, Eric J Wagner, Maarten Fornerod, Grazia M S Mancini
Publikováno v:
PLoS Genetics, Vol 13, Iss 5, p e1006809 (2017)
Integrator is an RNA polymerase II (RNAPII)-associated complex that was recently identified to have a broad role in both RNA processing and transcription regulation. Importantly, its role in human development and disease is so far largely unexplored.
Externí odkaz:
https://doaj.org/article/af63fe74d10344f78122a961db9962c3
Autor:
Clint Mizzi, Eleni Dalabira, Judit Kumuthini, Nduna Dzimiri, Istvan Balogh, Nazli Başak, Ruwen Böhm, Joseph Borg, Paola Borgiani, Nada Bozina, Henrike Bruckmueller, Beata Burzynska, Angel Carracedo, Ingolf Cascorbi, Constantinos Deltas, Vita Dolzan, Anthony Fenech, Godfrey Grech, Vytautas Kasiulevicius, Ľudevít Kádaši, Vaidutis Kučinskas, Elza Khusnutdinova, Yiannis L Loukas, Milan Macek, Halyna Makukh, Ron Mathijssen, Konstantinos Mitropoulos, Christina Mitropoulou, Giuseppe Novelli, Ioanna Papantoni, Sonja Pavlovic, Giuseppe Saglio, Jadranka Sertić, Maja Stojiljkovic, Andrew P Stubbs, Alessio Squassina, Maria Torres, Marek Turnovec, Ron H van Schaik, Konstantinos Voskarides, Salma M Wakil, Anneke Werk, Maria Del Zompo, Branka Zukic, Theodora Katsila, Ming Ta Michael Lee, Alison Motsinger-Rief, Howard L Mc Leod, Peter J van der Spek, George P Patrinos
Publikováno v:
PLoS ONE, Vol 12, Iss 2, p e0172595 (2017)
[This corrects the article DOI: 10.1371/journal.pone.0162866.].
Externí odkaz:
https://doaj.org/article/bfb926067d6344b3b90c530f5e7e1bb4
Autor:
Yunlei Li, Jessica G C A M Buijs-Gladdines, Kirsten Canté-Barrett, Andrew P Stubbs, Eric M Vroegindeweij, Willem K Smits, Ronald van Marion, Winand N M Dinjens, Martin Horstmann, Roland P Kuiper, Rogier C Buijsman, Guido J R Zaman, Peter J van der Spek, Rob Pieters, Jules P P Meijerink
Publikováno v:
PLoS Medicine, Vol 13, Iss 12, p e1002200 (2016)
Pediatric acute lymphoblastic leukemia (ALL) is the most common childhood cancer and the leading cause of cancer-related mortality in children. T cell ALL (T-ALL) represents about 15% of pediatric ALL cases and is considered a high-risk disease. T-AL
Externí odkaz:
https://doaj.org/article/1fa50ae1f8024b568b22d5497f9e3a8f
Autor:
Clint Mizzi, Eleni Dalabira, Judit Kumuthini, Nduna Dzimiri, Istvan Balogh, Nazli Başak, Ruwen Böhm, Joseph Borg, Paola Borgiani, Nada Bozina, Henrike Bruckmueller, Beata Burzynska, Angel Carracedo, Ingolf Cascorbi, Constantinos Deltas, Vita Dolzan, Anthony Fenech, Godfrey Grech, Vytautas Kasiulevicius, Ľudevít Kádaši, Vaidutis Kučinskas, Elza Khusnutdinova, Yiannis L Loukas, Milan Macek, Halyna Makukh, Ron Mathijssen, Konstantinos Mitropoulos, Christina Mitropoulou, Giuseppe Novelli, Ioanna Papantoni, Sonja Pavlovic, Giuseppe Saglio, Jadranka Setric, Maja Stojiljkovic, Andrew P Stubbs, Alessio Squassina, Maria Torres, Marek Turnovec, Ron H van Schaik, Konstantinos Voskarides, Salma M Wakil, Anneke Werk, Maria Del Zompo, Branka Zukic, Theodora Katsila, Ming Ta Michael Lee, Alison Motsinger-Rief, Howard L Mc Leod, Peter J van der Spek, George P Patrinos
Publikováno v:
PLoS ONE, Vol 11, Iss 9, p e0162866 (2016)
Pharmacogenomics aims to correlate inter-individual differences of drug efficacy and/or toxicity with the underlying genetic composition, particularly in genes encoding for protein factors and enzymes involved in drug metabolism and transport. In sev
Externí odkaz:
https://doaj.org/article/65d317caa72545be89067d0f39dc3afe
Autor:
Anna Bennis, Theo G M F Gorgels, Jacoline B Ten Brink, Peter J van der Spek, Koen Bossers, Vivi M Heine, Arthur A Bergen
Publikováno v:
PLoS ONE, Vol 10, Iss 10, p e0141597 (2015)
The human retinal pigment epithelium (RPE) plays an important role in the pathogenesis of age related macular degeneration (AMD). AMD is the leading cause of blindness worldwide. There is currently no effective treatment available. Preclinical studie
Externí odkaz:
https://doaj.org/article/5d5c19c1d3b14827bc10c0895e207f6c
Bioinformatic meta-analysis reveals novel differentially expressed genes and pathways in sarcoidosis
Autor:
Rogier T. A. van Wijck, Hari S. Sharma, Sigrid M. A. Swagemakers, Willem A. Dik, Hanna IJspeert, Virgil A. S. H. Dalm, Paul L. A. van Daele, P. Martin van Hagen, Peter J. van der Spek
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
IntroductionSarcoidosis is a multi-system inflammatory disease of unknown origin with heterogeneous clinical manifestations varying from a single organ non-caseating granuloma site to chronic systemic inflammation and fibrosis. Gene expression studie
Externí odkaz:
https://doaj.org/article/f8a6d8e6b3d74c478ef8b365b23c0637
Autor:
Celso Henrique Alves, Koen Bossers, Rogier M Vos, Anke H W Essing, Sigrid Swagemakers, Peter J van der Spek, Joost Verhaagen, Jan Wijnholds
Publikováno v:
PLoS ONE, Vol 8, Iss 12, p e82532 (2013)
In humans, the Crumbs homologue-1 (CRB1) gene is mutated in progressive types of autosomal recessive retinitis pigmentosa and Leber congenital amaurosis. The severity of the phenotype due to human CRB1 or mouse Crb1 mutations is dependent on the gene
Externí odkaz:
https://doaj.org/article/8cc487749150411fbefec8945a025999