The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins
G. G. Edel, M. van Kempen, A. Boerema-de Munck, C. N. Huisman, C. A. P. Naalden, R. W. W. Brouwer, S. Koornneef, W. F. J. van IJcken, R. M. H. Wijnen, R. J. Rottier · 2024
Read The molecular consequences of FOXF1 missense mutations associated with alveolar capillary dysplasia with misalignment of pulmonary veins by G. G. Edel, M. van Kempen, A. Boerema-de Munck, C. N. Huisman, C. A. P. Naalden, R. W. W. Brouwer, S. Koornneef, W. F. J. van IJcken, R. M. H. Wijnen, R. J. Rottier (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11536904.txt.
Description
A single gene's misprints can doom newborn lungs, and each misprint breaks the gene's protein in its own way. Edel and co-authors catalogued those breakages in this 2024 study. The gene, FOXF1, guides lung blood vessel development. Its damage causes a fatal disorder where lung capillaries and veins form wrongly.
Patient mutations were rebuilt in tagged copies of the protein and expressed in lab cells. Binding tests asked whether the mutant protein still grips its target genes. Reporter assays measured whether it still switches those genes on. Partner-protein capture rounded out the picture. Knowing which functions each mutation kills sharpens diagnosis and any future therapy design.
Catalog record
| CREATOR | G. G. Edel, M. van Kempen, A. Boerema-de Munck, C. N. Huisman, C. A. P. Naalden, R. W. W. Brouwer, S. Koornneef, W. F. J. van IJcken, R. M. H. Wijnen, R. J. Rottier |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 69 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |