{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Giorgetti OB"],"funding":["Wilhelm Sander-Stiftung","Max-Planck-Gesellschaft"],"pagination":["1037"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9522929"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["5(1)"],"pubmed_abstract":["Few human tumours present with a recurrent pathognomonic mutation in a transcription factor. Thymomas are an exception, with the majority of some subtypes exhibiting a distinct somatically acquired missense mutation in the general transcription factor GTF2I. Co-dominant expression of wild-type and mutated forms of Gtf2i in the mouse thymic epithelium is associated with aberrant thymic architecture and reduced thymopoietic activity. Phenotypic and molecular characterization of the mutant epithelium indicates that medullary differentiation is particularly affected as a result of impaired differentiation of bi-potent epithelial progenitors. The resulting gene expression signature is dominated by that of immature cortex-like thymic epithelial cells. TCR repertoire analysis of the cytopenic T c"],"journal":["Communications biology"],"pubmed_title":["Human thymoma-associated mutation of the GTF2I transcription factor impairs thymic epithelial progenitor differentiation in mice."],"pmcid":["PMC9522929"],"funding_grant_id":["n/a"],"pubmed_authors":["Nusser A","Boehm T","Giorgetti OB"],"additional_accession":[]},"is_claimable":false,"name":"Human thymoma-associated mutation of the GTF2I transcription factor impairs thymic epithelial progenitor differentiation in mice.","description":"Few human tumours present with a recurrent pathognomonic mutation in a transcription factor. Thymomas are an exception, with the majority of some subtypes exhibiting a distinct somatically acquired missense mutation in the general transcription factor GTF2I. Co-dominant expression of wild-type and mutated forms of Gtf2i in the mouse thymic epithelium is associated with aberrant thymic architecture and reduced thymopoietic activity. Phenotypic and molecular characterization of the mutant epithelium indicates that medullary differentiation is particularly affected as a result of impaired differentiation of bi-potent epithelial progenitors. The resulting gene expression signature is dominated by that of immature cortex-like thymic epithelial cells. TCR repertoire analysis of the cytopenic T c","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Sep","modification":"2026-05-31T02:12:45.979Z","creation":"2025-04-04T21:00:37.901Z"},"accession":"S-EPMC9522929","cross_references":{"pubmed":["36175547"],"doi":["10.1038/s42003-022-04002-7"]}}