hrp0094p1-126 | Growth A | ESPE2021

Identification and tissue-specific characterization of novel SHOX-regulated genes in zebrafish highlights SOX family members among other genes

Hoffmann Sandra , Roeth Ralph , Diebold Sabrina , Gogel Jasmin , Hassel David , Just Steffen , Rappold Gudrun A ,

SHOX deficiency causes a spectrum of clinical phenotypes related to skeletal dysplasia and short stature, including Léri-Weill dyschondrosteosis, Langer mesomelic dysplasia, Turner syndrome, and idiopathic short stature. SHOX controls chondrocyte proliferation and differentiation, bone maturation, cellular growth arrest and apoptosis via transcriptional regulation of its direct target genes NPPB, FGFR3, and CTGF. However, our u...