TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome
Martina Orefice, Francesca Remondino, Irene Pieraccioni, Giulia Salamone, Silvia Savoli, Antonio Vitobello, Chiara Gabellini, Michela Ori · 2026
Read TCF4 at the crest of development: a zebrafish model to explore craniofacial and gastrointestinal defects in Pitt-Hopkins syndrome by Martina Orefice, Francesca Remondino, Irene Pieraccioni, Giulia Salamone, Silvia Savoli, Antonio Vitobello, Chiara Gabellini, Michela Ori (2026) 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-13585727.txt.
Description
Martina Orefice, Francesca Remondino, and their co-authors built a zebrafish model of Pitt-Hopkins syndrome, a rare disorder caused by having only one working copy of the TCF4 gene. Their 2026 study notes the syndrome brings intellectual disability, distinctive facial features, breathing problems, and gut dysfunction. The gene's role in the brain is well studied, but its role in face and gut development is not.
Using gene editing, the team made fish with a faulty copy of the gene and studied the cell lines that build the face and the gut's own nervous system. Form, cell behavior, and function were all measured. Putting the human gene back into the mutant fish restored normal traits, proving the defects came from the gene's loss. The model opens the syndrome's body wide effects to study.
Catalog record
| CREATOR | Martina Orefice, Francesca Remondino, Irene Pieraccioni, Giulia Salamone, Silvia Savoli, Antonio Vitobello, Chiara Gabellini, Michela Ori |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 49 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |