Frédéric Sohm

This study identifies fibroblasts as key drivers of disease progression in Bethlem myopathy using a zebrafish model and single-nucleus RNA sequencing.

This study uses a zebrafish model of Bethlem myopathy to show that collagen VI deficiency disrupts CaV1.1 function, leading to increased sarcoplasmic reticulum Ca2+ leak and muscle dysfunction.

This study shows that col22a1 gene ablation in zebrafish leads to variable phenotypes in muscle function and movement, highlighting its role in force transmission and postural control.

The paper identifies defects in cell migration during eye development in blind Mexican cavefish leading to coloboma.

This study shows that fgfr3 loss-of-function in zebrafish causes cranial vault defects by delaying osteoblast expansion and differentiation, with changes in the extracellular matrix.