Search Results - "Ouwehand, Willem H."

DNA Methylation Dynamics of Human Hematopoietic Stem Cell Differentiation by Farlik, Matthias, Halbritter, Florian, Müller, Fabian, Choudry, Fizzah A., Ebert, Peter, Klughammer, Johanna, Farrow, Samantha, Santoro, Antonella, Ciaurro, Valerio, Mathur, Anthony, Uppal, Rakesh, Stunnenberg, Hendrik G., Ouwehand, Willem H., Laurenti, Elisa, Lengauer, Thomas, Frontini, Mattia, Bock, Christoph

“…Hematopoietic stem cells give rise to all blood cells in a differentiation process that involves widespread epigenome remodeling. Here we present genome-wide…”
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Inherited platelet disorders: toward DNA-based diagnosis by Lentaigne, Claire, Freson, Kathleen, Laffan, Michael A., Turro, Ernest, Ouwehand, Willem H.

“…Variations in platelet number, volume, and function are largely genetically controlled, and many loci associated with platelet traits have been identified by…”
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Dindel: accurate indel calls from short-read data by Albers, Cornelis A, Lunter, Gerton, MacArthur, Daniel G, McVean, Gilean, Ouwehand, Willem H, Durbin, Richard

“…Small insertions and deletions (indels) are a common and functionally important type of sequence polymorphism. Most of the focus of studies of sequence…”
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Large-scale production of megakaryocytes from human pluripotent stem cells by chemically defined forward programming by Moreau, Thomas, Evans, Amanda L., Vasquez, Louella, Tijssen, Marloes R., Yan, Ying, Trotter, Matthew W., Howard, Daniel, Colzani, Maria, Arumugam, Meera, Wu, Wing Han, Dalby, Amanda, Lampela, Riina, Bouet, Guenaelle, Hobbs, Catherine M., Pask, Dean C., Payne, Holly, Ponomaryov, Tatyana, Brill, Alexander, Soranzo, Nicole, Ouwehand, Willem H., Pedersen, Roger A., Ghevaert, Cedric

“…The production of megakaryocytes (MKs)—the precursors of blood platelets—from human pluripotent stem cells (hPSCs) offers exciting clinical opportunities for…”
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Systematic Mendelian randomization using the human plasma proteome to discover potential therapeutic targets for stroke by Chen, Lingyan, Peters, James E., Prins, Bram, Persyn, Elodie, Traylor, Matthew, Surendran, Praveen, Karthikeyan, Savita, Yonova-Doing, Ekaterina, Di Angelantonio, Emanuele, Roberts, David J., Watkins, Nicholas A., Ouwehand, Willem H., Danesh, John, Lewis, Cathryn M., Bronson, Paola G., Markus, Hugh S., Burgess, Stephen, Butterworth, Adam S., Howson, Joanna M. M.

“…Stroke is the second leading cause of death with substantial unmet therapeutic needs. To identify potential stroke therapeutic targets, we estimate the causal…”
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Combinatorial Transcriptional Control In Blood Stem/Progenitor Cells: Genome-wide Analysis of Ten Major Transcriptional Regulators by Wilson, Nicola K., Foster, Samuel D., Wang, Xiaonan, Knezevic, Kathy, Schütte, Judith, Kaimakis, Polynikis, Chilarska, Paulina M., Kinston, Sarah, Ouwehand, Willem H., Dzierzak, Elaine, Pimanda, John E., de Bruijn, Marella F.T.R., Göttgens, Berthold

“…Combinatorial transcription factor (TF) interactions control cellular phenotypes and, therefore, underpin stem cell formation, maintenance, and…”
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Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing by Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E, Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R, Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H, Raymond, F Lucy, Carss, Keren J

“…Studies have shown that complex structural variants (cxSVs) contribute to human genomic variation and can cause Mendelian disease. We aimed to identify cxSVs…”
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High-throughput elucidation of thrombus formation reveals sources of platelet function variability by van Geffen, Johanna P, Brouns, Sanne L N, Batista, Joana, McKinney, Harriet, Kempster, Carly, Nagy, Magdolna, Sivapalaratnam, Suthesh, Baaten, Constance C F M J, Bourry, Nikki, Frontini, Mattia, Jurk, Kerstin, Krause, Manuela, Pillitteri, Daniele, Swieringa, Frauke, Verdoold, Remco, Cavill, Rachel, Kuijpers, Marijke J E, Ouwehand, Willem H, Downes, Kate, Heemskerk, Johan W M

“…In combination with microspotting, whole-blood microfluidics can provide high-throughput information on multiple platelet functions in thrombus formation…”
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A coagulation defect arising from heterozygous premature termination of tissue factor by Schulman, Sol, El-Darzi, Emale, Florido, Mary Hc, Friesen, Max, Merrill-Skoloff, Glenn, Brake, Marisa A, Schuster, Calvin R, Lin, Lin, Westrick, Randal J, Cowan, Chad A, Flaumenhaft, Robert, Ouwehand, Willem H, Peerlinck, Kathelijne, Freson, Kathleen, Turro, Ernest, Furie, Bruce

“…Tissue factor (TF) is the primary initiator of blood coagulation in vivo and the only blood coagulation factor for which a human genetic defect has not been…”
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Sphingolipid dysregulation due to lack of functional KDSR impairs proplatelet formation causing thrombocytopenia by Bariana, Tadbir K, Labarque, Veerle, Heremans, Jessica, Thys, Chantal, De Reys, Mara, Greene, Daniel, Jenkins, Benjamin, Grassi, Luigi, Seyres, Denis, Burden, Frances, Whitehorn, Deborah, Shamardina, Olga, Papadia, Sofia, Gomez, Keith, BioResource, Nihr, Van Geet, Chris, Koulman, Albert, Ouwehand, Willem H, Ghevaert, Cedric, Frontini, Mattia, Turro, Ernest, Freson, Kathleen

“…Sphingolipids are fundamental to membrane trafficking, apoptosis, and cell differentiation and proliferation. KDSR or 3-keto-dihydrosphingosine reductase is an…”
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Comparison of methods for competitive tests of pathway analysis by Evangelou, Marina, Rendon, Augusto, Ouwehand, Willem H, Wernisch, Lorenz, Dudbridge, Frank

“…It has been suggested that pathway analysis can complement single-SNP analysis in exploring genomewide association data. Pathway analysis incorporates the…”
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Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding by Westbury, Sarah K., Canault, Matthias, Greene, Daniel, Bermejo, Emilse, Hanlon, Katharine, Lambert, Michele P., Millar, Carolyn M., Nurden, Paquita, Obaji, Samya G., Revel-Vilk, Shoshana, Van Geet, Chris, Downes, Kate, Papadia, Sofia, Tuna, Salih, Watt, Christopher, Freson, Kathleen, Laffan, Michael A., Ouwehand, Willem H., Alessi, Marie-Christine, Turro, Ernest, Mumford, Andrew D.

“…Heritable platelet function disorders (PFDs) are genetically heterogeneous and poorly characterized. Pathogenic variants in RASGRP2, which encodes calcium and…”
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Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems by Schuyler, Ronald P., Merkel, Angelika, Raineri, Emanuele, Altucci, Lucia, Vellenga, Edo, Martens, Joost H.A., Pourfarzad, Farzin, Kuijpers, Taco W., Burden, Frances, Farrow, Samantha, Downes, Kate, Ouwehand, Willem H., Clarke, Laura, Datta, Avik, Lowy, Ernesto, Flicek, Paul, Frontini, Mattia, Stunnenberg, Hendrik G., Martín-Subero, José I., Gut, Ivo, Heath, Simon

“…DNA methylation and the localization and post-translational modification of nucleosomes are interdependent factors that contribute to the generation of…”
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Information recovery from low coverage whole-genome bisulfite sequencing by Libertini, Emanuele, Heath, Simon C., Hamoudi, Rifat A., Gut, Marta, Ziller, Michael J., Czyz, Agata, Ruotti, Victor, Stunnenberg, Hendrik G., Frontini, Mattia, Ouwehand, Willem H., Meissner, Alexander, Gut, Ivo G., Beck, Stephan

“…The cost of whole-genome bisulfite sequencing (WGBS) remains a bottleneck for many studies and it is therefore imperative to extract as much information as…”
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The influence of rare variants in circulating metabolic biomarkers by Riveros-Mckay, Fernando, Oliver-Williams, Clare, Karthikeyan, Savita, Walter, Klaudia, Kundu, Kousik, Ouwehand, Willem H, Roberts, David, Di Angelantonio, Emanuele, Soranzo, Nicole, Danesh, John, Wheeler, Eleanor, Zeggini, Eleftheria, Butterworth, Adam S, Barroso, Inês

“…Circulating metabolite levels are biomarkers for cardiovascular disease (CVD). Here we studied, association of rare variants and 226 serum lipoproteins, lipids…”
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SNP in human ARHGEF3 promoter is associated with DNase hypersensitivity, transcript level and platelet function, and Arhgef3 KO mice have increased mean platelet volume by Zou, Siying, Teixeira, Alexandra M, Kostadima, Myrto, Astle, William J, Radhakrishnan, Aparna, Simon, Lukas Mikolaj, Truman, Lucy, Fang, Jennifer S, Hwa, John, Zhang, Ping-Xia, van der Harst, Pim, Bray, Paul F, Ouwehand, Willem H, Frontini, Mattia, Krause, Diane S

“…Genome-wide association studies have identified a genetic variant at 3p14.3 (SNP rs1354034) that strongly associates with platelet number and mean platelet…”
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Platelets release novel thiol isomerase enzymes which are recruited to the cell surface following activation by Holbrook, Lisa‐Marie, Watkins, Nicholas A., Simmonds, Alan D., Jones, Chris I., Ouwehand, Willem H., Gibbins, Jonathan M.

“…Summary The thiol isomerase enzymes protein disulphide isomerase (PDI) and endoplasmic reticulum protein 5 (ERp5) are released by resting and activated…”
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An experimentally validated network of nine haematopoietic transcription factors reveals mechanisms of cell state stability by Schütte, Judith, Wang, Huange, Antoniou, Stella, Jarratt, Andrew, Wilson, Nicola K, Riepsaame, Joey, Calero-Nieto, Fernando J, Moignard, Victoria, Basilico, Silvia, Kinston, Sarah J, Hannah, Rebecca L, Chan, Mun Chiang, Nürnberg, Sylvia T, Ouwehand, Willem H, Bonzanni, Nicola, de Bruijn, Marella Ftr, Göttgens, Berthold

“…Transcription factor (TF) networks determine cell-type identity by establishing and maintaining lineage-specific expression profiles, yet reconstruction of…”
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Runs of Homozygosity: Association with Coronary Artery Disease and Gene Expression in Monocytes and Macrophages by Christofidou, Paraskevi, Nelson, Christopher P., Nikpay, Majid, Qu, Liming, Li, Mingyao, Loley, Christina, Debiec, Radoslaw, Braund, Peter S., Denniff, Matthew, Charchar, Fadi J., Arjo, Ares Rocanin, Trégouët, David-Alexandre, Goodall, Alison H., Cambien, Francois, Ouwehand, Willem H., Roberts, Robert, Schunkert, Heribert, Hengstenberg, Christian, Reilly, Muredach P., Erdmann, Jeanette, McPherson, Ruth, König, Inke R., Thompson, John R., Samani, Nilesh J., Tomaszewski, Maciej

“…Runs of homozygosity (ROHs) are recognized signature of recessive inheritance. Contributions of ROHs to the genetic architecture of coronary artery disease and…”
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Management and outcome of 200 cases of fetomaternal alloimmune thrombocytopenia by Ghevaert, Cedric, Campbell, Kate, Walton, Jill, Smith, Graham A., Allen, Dave, Williamson, Lorna M., Ouwehand, Willem H., Ranasinghe, Edmund

“…BACKGROUND: Fetomaternal alloimmune thrombocytopenia (FMAIT) is the commonest cause of severe thrombocytopenia in term neonates but its management remains…”
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