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Your search keyword '"Wijgaerts, Anouck"' showing total 7 results
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7 results on '"Wijgaerts, Anouck"'

2. Unravelling the disease mechanism for TSPYL1 deficiency

Author

Buyse, Gunnar, primary, Di Michele, Michela, additional, Wijgaerts, Anouck, additional, Louwette, Sophie, additional, Wittevrongel, Christine, additional, Thys, Chantal, additional, Downes, Kate, additional, Ceulemans, Berten, additional, Van Esch, Hild, additional, Van Geet, Chris, additional, and Freson, Kathleen, additional

Published
2020
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6. A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Author

Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K., Westbury, Sarah K., Kelly, Anne M., Selleslag, Dominik, Stephens, Jonathan C., Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J., Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V. V., and Favier, Rémi

Subjects
GENETIC mutation, PROTEIN-tyrosine kinases, MYELOFIBROSIS, THROMBOCYTOPENIA, HEMORRHAGE, ONTOLOGY
Abstract

The article discusses the study on a gain-of-function-mutation in universal tyrosine kinase SRC which causes bone pathologies, bleeding, myelofibrosis, and thrombocytopenia. The study reportedly involved genome sequencing and human phenotype ontology patient coding to identify the mutation. Also explored are the characteristics of the genetic defect.

Published
2016
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7. A dominant gain-of-function mutation in universal tyrosine kinase SRCcauses thrombocytopenia, myelofibrosis, bleeding, and bone pathologies

Author

Turro, Ernest, Greene, Daniel, Wijgaerts, Anouck, Thys, Chantal, Lentaigne, Claire, Bariana, Tadbir K., Westbury, Sarah K., Kelly, Anne M., Selleslag, Dominik, Stephens, Jonathan C., Papadia, Sofia, Simeoni, Ilenia, Penkett, Christopher J., Ashford, Sofie, Attwood, Antony, Austin, Steve, Bakchoul, Tamam, Collins, Peter, Deevi, Sri V. V., Favier, Rémi, Kostadima, Myrto, Lambert, Michele P., Mathias, Mary, Millar, Carolyn M., Peerlinck, Kathelijne, Perry, David J., Schulman, Sol, Whitehorn, Deborah, Wittevrongel, Christine, De Maeyer, Marc, Rendon, Augusto, Gomez, Keith, Erber, Wendy N., Mumford, Andrew D., Nurden, Paquita, Stirrups, Kathleen, Bradley, John R., Lucy Raymond, F., Laffan, Michael A., Van Geet, Chris, Richardson, Sylvia, Freson, Kathleen, and Ouwehand, Willem H.

Abstract

E527K hyperactive SRC results in megakaryocytes with increased podosome formation, thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.

Published
2016
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