Delfien Syx

This study evaluates a COL1A2 variant of uncertain significance using zebrafish knock-in models, showing that pathogenic variants cause skeletal abnormalities while VUS and benign variants do not.

This study develops a zebrafish model of thoracic aortic dissection and rupture by knocking out SMAD3 and SMAD6 genes, revealing novel pathways and potential therapeutic targets.

This study identifies the cellular distribution of matrisome genes in murine and human dorsal root ganglia, revealing their potential role in neuronal signaling and pain.

This study shows that b3galt6 knock-out zebrafish exhibit human β3GalT6-deficiency disorders, revealing a novel proteoglycan linkage region mechanism.