Saskia M. Bergevoet

HMX3 is a critical vulnerability in MECOM-negative KMT2A::MLLT3 acute myelomonocytic leukemia

Saioa Arza-Apalategi, Branco M. H. Heuts, Saskia M. Bergevoet, Roos Meering et autres

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GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation

Jeron Venhuizen, Maaike G.J.M. van Bergen, Saskia M. Bergevoet, Daan Gilissen et autres

Abstract The transcription factor Growth Factor Independence 1B (GFI1B) recruits Lysine Specific Demethylase 1 A (LSD1/KDM1A) to stimulate gene programs relevant for megakaryocyte and platelet biology. Inherited pathogenic GFI1B variants result in thrombocytopenia and bleeding propensities with varying intensity. Whether these affect …

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The neuronal homeobox transcription factor HMX3 is a crucial vulnerability factor in MECOM-negative KMT2A::MLLT3 acute myelomonocytic leukemia

Saioa Arza-Apalategi, Branco M. H. Heuts, Saskia M. Bergevoet, Roos Meering et autres

Abstract The KMT2A::MLLT3 fusion protein causes acute myeloid leukemia (AML) by activating the oncogenic transcription factor MECOM. However, MECOM expression occurs in only half of the KMT2A::MLLT3 cases. By integrating gene expression and enhancer activity data from patient cells, we identified neuronal …

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Inducible MLL-AF9 Expression Drives an AML Program during Human Pluripotent Stem Cell-Derived Hematopoietic Differentiation

Branco M. H. Heuts, Saioa Arza-Apalategi, Sinne Alkema, Esther J.H. Tijchon et autres

A t(9;11)(p22;q23) translocation produces the MLL-AF9 fusion protein, which is found in up to 25% of de novo AML cases in children. Despite major advances, obtaining a comprehensive understanding of context-dependent MLL-AF9-mediated gene programs during early hematopoiesis is challenging. Here, we generated …

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Inducible MLL-AF9 expression drives an AML program during human pluripotent stem cell-derived hematopoietic differentiation

Branco M. H. Heuts, Saioa Arza-Apalategi, Sinna Alkema, Esther J.H. Tijchon et autres

Abstract A t(9;11)(p22;q23) translocation produces the MLL-AF9 fusion protein, which is found in up to 25% of de novo AML cases in children. Despite major advances, obtaining a comprehensive understanding of context-dependent MLL-AF9-mediated gene programs during early hematopoiesis is challenging. Here, we …

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Identification of transcription factors dictating blood cell development using a bidirectional transcription network-based computational framework

Branco M. H. Heuts, Saioa Arza-Apalategi, Siebren Frölich, Saskia M. Bergevoet et autres

Advanced computational methods exploit gene expression and epigenetic datasets to predict gene regulatory networks controlled by transcription factors (TFs). These methods have identified cell fate determining TFs but require large amounts of reference data and experimental expertise. Here, we present an easy …

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Characterization of a genomic region 8 kb downstream of GFI1B associated with myeloproliferative neoplasms

Maaike G.J.M. van Bergen, Rinske van Oorschot, Saskia M. Bergevoet, Aniek O. de Graaf et autres

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Molecular mechanisms of bleeding disorderassociated GFI1BQ287* mutation and its affected pathways in megakaryocytes and platelets

Rinske van Oorschot, Marten Hansen, Johanna M. Koornneef, Anna E. Marneth et autres

Dominant-negative mutations in the transcription factor Growth Factor Independence-1B (GFI1B), such as GFI1BQ287*, cause a bleeding disorder characterized by a plethora of megakaryocyte and platelet abnormalities. The deregulated molecular mechanisms and pathways are unknown. Here we show that both normal and Q287* …

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Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses

Rinske van Oorschot, Anna E. Marneth, Saskia M. Bergevoet, Maaike G.J.M. van Bergen et autres

Contains fulltext : 206781.pdf (Publisher’s version ) (Open Access)

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GFI1 is required for RUNX1/ETO positive acute myeloid leukemia

Anna E. Marneth, Lacramioara Botezatu, Judith Maria Hönes, Jimmy C.L. Israël et autres

Author(s): Marneth, Anna E; Botezatu, Lacramioara; Hönes, Judith M; Israël, Jimmy CL; Schütte, Judith; Vassen, Lothar; Lams, Robert F; Bergevoet, Saskia M; Groothuis, Laura; Mandoli, Amit; Martens, Joost HA; Huls, Gerwin; Jansen, Joop H; Dührsen, Ulrich; Berg, Tobias; Möröy, Tarik; Wichmann, Christian; …

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C-terminal BRE overexpression in 11q23-rearranged and t(8;16) acute myeloid leukemia is caused by intragenic transcription initiation

Anna E. Marneth, Koen H.M. Prange, Adil S. A. Al Hinai, Saskia M. Bergevoet et autres

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Megakaryocyte Expansion and Platelet CD34 Expression Observed in GFI1BQ287*-Related Bleeding and Platelet Disorder Is Caused By Quenching of the Lysine Specific Demethylase LSD1/KDM1A

Rinske van Oorschot, Anna E. Marneth, Marten Hansen, Saskia M. Bergevoet et autres

Abstract The heterozygous Q287* mutation in Growth Factor Independence 1B (GFI1B) causes an autosomal-dominant bleeding disorder characterized by gray platelets as a result of reduced α-granule content.Affected individuals also exhibited macro-thrombocytopenia, increased megakaryocyte numbers and platelet CD34 expression. GFI1B functions as transcriptional …

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