该研究在先天性脊柱畸形队列中报道了SOX9致病性突变，并研究了SOX9的TAM突变导致轻度中轴骨发育不良的机制，为脊柱畸形的早期诊断及遗传咨询提供了理论依据。

These include transactivation of the Epidermal Growth Factor Receptor (EGFR) via the autocrine/paracrine release of EGF-like ligands at the cell surface and scaffolding of MAPK cascades.

The expression of a mutated hyperactive gain-of-function (GOF) STAT5 without O-GlcNAcylation resulted in decreased tyrosine phosphorylation, oligomerization and transactivation potential and ...