Functional analysis of cell lines derived from SMAD3-related Loeys-Dietz syndrome patients provides insights into genotype-phenotype relation.
Nathalie P de WagenaarLisa M van den BersselaarHanny J H M OdijkSanne J M StefensDieter P ReinhardtJolien W Roos-HesselinkRoland KanaarJudith M A VerhagenHennie T BrüggenwirthIngrid M B H van de LaarIngrid van der PluijmJeroen EssersPublished in: Human molecular genetics (2024)
Distinguishing between P/LP HI and DN SMAD3 variants can be achieved by assessing differentiation potential, and SMA and MYH11 expression. The differences between DN and HI SMAD3 variant fibroblasts and VSMCs potentially contribute to the differences in disease manifestation. Notably, myofibroblast differentiation seems a suitable alternative in vitro test system compared to VSMCs.
Keyphrases
- transforming growth factor
- epithelial mesenchymal transition
- end stage renal disease
- ejection fraction
- newly diagnosed
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- copy number
- heart failure
- signaling pathway
- case report
- gene expression
- atrial fibrillation
- patient reported outcomes
- extracellular matrix
- human health
- angiotensin ii