Accès ouvert
2026
article
OpenAlex
Saioa Arza-Apalategi, Daan Gilissen, Anne C. van der Grinten, Seline N. van den Oever et autres
Background/Objectives: Acute myeloid leukemia (AML) comprises genetic subclasses with distinct gene expression profiles. While AML gene expression studies have mainly focused on protein-coding genes, our understanding of expression patterns of long intergenic noncoding RNAs (lincRNAs) remains incomplete. This is due to limited …
nl
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Accès ouvert
2024
article
OpenAlex
Saioa Arza-Apalategi, Branco M. H. Heuts, Saskia M. Bergevoet, Roos Meering et autres
nl, de
(code pays fourni par la source)
2024
conference-abstract
OpenAlex
Saioa Arza-Apalategi, Daan Gilissen, Anne van der Grinten, Heuts Branco et autres
Long noncoding RNAs (lncRNAs) are >200 nucleotides in size, lack protein coding potential, and together represent ~2% of the human genome. LncRNAs control important biological processes like cell division, - differentiation and apoptosis. They do this by binding chromatin, RNA, and proteins …
nl
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Accès ouvert
2024
article
OpenAlex
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 …
nl
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Accès ouvert
2023
preprint
OpenAlex
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 …
nl, de
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Accès ouvert
2023
article
OpenAlex
Saioa Arza-Apalategi, Branco M. H. Heuts, Meike T. M. Dooijes, Daan Gilissen et autres
nl
(code pays fourni par la source)
2019
paratext
OpenAlex
Laurens Wiel, Coos A. B. Baakman, Daan Gilissen, Joris A. Veltman et autres
On the Front Cover: The front cover image is based on the Paper MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains by Laurens Wiel et al., DOI: 10.1002/humu.23798.
nl, gb
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Accès ouvert
2019
article
OpenAlex
Laurens Wiel, Coos A. B. Baakman, Daan Gilissen, Joris A. Veltman et autres
The growing availability of human genetic variation has given rise to novel methods of measuring genetic tolerance that better interpret variants of unknown significance. We recently developed a concept based on protein domain homology in the human genome to improve variant interpretation. …
nl, gb
(code pays fourni par la source)
Accès ouvert
2019
preprint
OpenAlex
Laurens Wiel, Coos A. B. Baakman, Daan Gilissen, Joris A. Veltman et autres
Abstract The growing availability of human genetic variation has given rise to novel methods of measuring genetic tolerance that better interpret variants of unknown significance. We recently developed a novel concept based on protein domain homology in the human genome to improve …
nl, us, gb
(code pays fourni par la source)