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  1. Article ; Online: GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.

    Venhuizen, Jeron / van Bergen, Maaike G J M / Bergevoet, Saskia M / Gilissen, Daan / Spruijt, Cornelia G / Wingens, Laura / van den Akker, Emile / Vermeulen, Michiel / Jansen, Joop H / Martens, Joost H A / van der Reijden, Bert A

    Communications biology

    2024  Volume 7, Issue 1, Page(s) 374

    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 ... ...

    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 similar gene programs is unknow. Here we studied transcriptomic effects of four patient-derived GFI1B variants (GFI1B
    MeSH term(s) Humans ; Megakaryocytes/metabolism ; Cell Differentiation/genetics ; Hematopoiesis/genetics ; Histone Demethylases/genetics ; Histone Demethylases/metabolism ; Gene Expression Regulation ; Proto-Oncogene Proteins/genetics ; Proto-Oncogene Proteins/metabolism ; Repressor Proteins/metabolism
    Chemical Substances Histone Demethylases (EC 1.14.11.-) ; GFI1B protein, human ; Proto-Oncogene Proteins ; Repressor Proteins ; KDM1A protein, human (EC 1.5.-)
    Language English
    Publishing date 2024-03-28
    Publishing country England
    Document type Journal Article
    ISSN 2399-3642
    ISSN (online) 2399-3642
    DOI 10.1038/s42003-024-06090-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: High expression of an intragenic long noncoding RNA misinterpreted as high FTO oncogene expression in NPM1 mutant acute myeloid leukemia.

    Arza-Apalategi, Saioa / Heuts, Branco M H / Dooijes, Meike T M / Gilissen, Daan / van der Heijden, Adrian J P / Jansen, Joop H / Martens, Joost H A / van der Reijden, Bert A

    Leukemia

    2023  Volume 37, Issue 4, Page(s) 901–904

    MeSH term(s) Humans ; Alpha-Ketoglutarate-Dependent Dioxygenase FTO/genetics ; Leukemia, Myeloid, Acute/genetics ; Leukemia, Myeloid, Acute/metabolism ; Mutation ; Nuclear Proteins/genetics ; Nuclear Proteins/metabolism ; Oncogenes ; RNA, Long Noncoding/genetics
    Chemical Substances Alpha-Ketoglutarate-Dependent Dioxygenase FTO (EC 1.14.11.33) ; FTO protein, human (EC 1.14.11.33) ; Nuclear Proteins ; RNA, Long Noncoding ; NPM1 protein, human
    Language English
    Publishing date 2023-02-18
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 807030-1
    ISSN 1476-5551 ; 0887-6924
    ISSN (online) 1476-5551
    ISSN 0887-6924
    DOI 10.1038/s41375-023-01844-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2295: Show issues Location:
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    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains.

    Wiel, Laurens / Baakman, Coos / Gilissen, Daan / Veltman, Joris A / Vriend, Gerrit / Gilissen, Christian

    Human mutation

    2019  Volume 40, Issue 8, Page(s) 1030–1038

    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 concept based on protein domain homology in the human ... ...

    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 concept based on protein domain homology in the human genome to improve variant interpretation. For this purpose, we mapped population variation from the Exome Aggregation Consortium (ExAC) and pathogenic mutations from the Human Gene Mutation Database (HGMD) onto Pfam protein domains. The aggregation of these variation data across homologous domains into meta-domains allowed us to generate amino acid resolution of genetic intolerance profiles for human protein domains. Here, we developed MetaDome, a fast and easy-to-use web server that visualizes meta-domain information and gene-wide profiles of genetic tolerance. We updated the underlying data of MetaDome to contain information from 56,319 human transcripts, 71,419 protein domains, 12,164,292 genetic variants from gnomAD, and 34,076 pathogenic mutations from ClinVar. MetaDome allows researchers to easily investigate their variants of interest for the presence or absence of variation at corresponding positions within homologous domains. We illustrate the added value of MetaDome by an example that highlights how it may help in the interpretation of variants of unknown significance. The MetaDome web server is freely accessible at https://stuart.radboudumc.nl/metadome.
    MeSH term(s) Computational Biology/methods ; Databases, Genetic ; Genetic Predisposition to Disease ; Genetic Variation ; Genome, Human ; Humans ; Internet ; Protein Domains ; Proteins/chemistry ; Proteins/genetics ; Software ; Structural Homology, Protein
    Chemical Substances Proteins
    Language English
    Publishing date 2019-06-18
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1126646-6
    ISSN 1098-1004 ; 1059-7794
    ISSN (online) 1098-1004
    ISSN 1059-7794
    DOI 10.1002/humu.23798
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3586: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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