The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins
Missense mutations in the coding region of the FOXF1 gene alter the molecular function of the FOXF1 protein at multiple levels, such as phosphorylation, DNA binding and target gene activation. These results indicate that FOXF1 molecular pathways may be differentially affected in ACD/MPV patients carrying missense mutations in the DNA-binding domain and may explain the phenotypic heterogeneity of ACD/MPV.
Authors
- Gabriëla G. Edel
- Rene M. H. Wijnen (ORCID: https://orcid.org/0000-0001-7266-9713)
- Robbert J. Rottier (ORCID: https://orcid.org/0000-0002-9291-4971)
- Rutger W. W. Brouwer (ORCID: https://orcid.org/0000-0001-7524-6230)
- Muriel van Kempen
- Anne Boerema‐de Munck
- Wilfred F. J. van IJcken (ORCID: https://orcid.org/0000-0002-0421-8301)
- Cynthia Huisman
- C. A. P. Naalden
- Sem Koornneef (ORCID: https://orcid.org/0009-0002-8166-9234)
Institutions
- Erasmus MC (NL)
- Erasmus MC - Sophia Children’s Hospital (NL)
- Erasmus University Rotterdam (NL)
Publication Details
- Journal
- Journal of Biomedical Science
- Published
- 2024-11-04
- DOI
- https://doi.org/10.1186/s12929-024-01088-5
- Citations
- 1
- Primary Topic
- FOXO transcription factor regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Stichting Vrienden van het Sophia