S
Sjaak Philipsen
Researcher at Erasmus University Medical Center
Publications - 33
Citations - 2420
Sjaak Philipsen is an academic researcher from Erasmus University Medical Center. The author has contributed to research in topics: Globin & GATA1. The author has an hindex of 17, co-authored 33 publications receiving 2161 citations. Previous affiliations of Sjaak Philipsen include Erasmus University Rotterdam.
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Journal ArticleDOI
Gene expression-based classification of non-small cell lung carcinomas and survival prediction.
Jun Hou,Joachim G.J.V. Aerts,Bianca den Hamer,Wilfred F. J. van IJcken,Michael A. den Bakker,Peter Riegman,Cor van der Leest,Peter J. van der Spek,John A. Foekens,Henk C. Hoogsteden,Frank Grosveld,Sjaak Philipsen +11 more
TL;DR: The gene signatures identified are promising tools for histo-pathological classification of non-small cell lung cancer, and may improve the prediction of clinical outcome.
Journal ArticleDOI
Transcription Factor Sp1 Is Essential for Early Embryonic Development but Dispensable for Cell Growth and Differentiation
TL;DR: In Sp1-/- embryos, the expression of many putative target genes, including cell cycle-regulated genes, is not affected, CpG islands remain methylation free, and active chromatin is formed at the globin loci, however, theexpression of the methyl-CpG-binding protein MeCP2 is greatly reduced in Sp1 -/- embryos.
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Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin
Joseph Borg,Petros Papadopoulos,Marianthi Georgitsi,Laura Gutierrez,Godfrey Grech,Godfrey Grech,Pavlos Fanis,Marios Phylactides,Annemieke J.M.H. Verkerk,Peter J. van der Spek,Christian Scerri,Christian Scerri,Wilhelmina Cassar,Wilhelmina Cassar,Ruth Galdies,Ruth Galdies,Wilfred F. J. van IJcken,Zeliha Ozgur,Nynke Gillemans,Jun Hou,Marisa Bugeja,Marisa Bugeja,Frank Grosveld,Marieke von Lindern,Alex E. Felice,Alex E. Felice,George P. Patrinos,Sjaak Philipsen +27 more
TL;DR: Functional assays suggested that, in addition to its established role in regulating adult globin expression, KLF1 is a key activator of the BCL11A gene, which encodes a suppressor of HbF expression.
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Krüppeling erythropoiesis: An unexpected broad spectrum of human red blood cell disorders due to KLF1 variants
Andrew C. Perkins,Xiangmin Xu,Douglas R. Higgs,George P. Patrinos,Lionel Arnaud,James J. Bieker,Sjaak Philipsen +6 more
TL;DR: A broad range of hitherto unrelated human red cell disorders are caused by variants in KLF1, a master regulator of erythropoiesis, which were previously considered to be extremely rare causes of human genetic disease.
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An intrinsic but cell-nonautonomous defect in GATA-1-overexpressing mouse erythroid cells.
David Whyatt,Fokke Lindeboom,Alar Karis,Rita Ferreira,Eric Milot,Rudolf W. Hendriks,M. F. T. R. De Bruijn,An Langeveld,Joost Gribnau,Frank Grosveld,Sjaak Philipsen +10 more
TL;DR: The existence of a signalling mechanism in which a signal originating from wild-type erythroid cells restores normal differentiation to cells overexpressing GATA-1 in vivo indicates that previous interpretations of cell-nonautonomous defects may be erroneous in some cases and may in fact assign gene function to incorrect cell types.