Article
Mesoderm-specific Stat3 deletion affects expression of Sox9 yielding Sox9-dependent phenotypes.
PLoS genetics - 1 Feb 2017
Hall Michael D, Murray Caroline A, Valdez Michael J, Perantoni Alan O
Abstract excerpt
To date, mutations within the coding region and translocations around the SOX9 gene both constitute the majority of genetic lesions underpinning human campomelic dysplasia (CD). While pathological coding-region mutations typically result in a non-functional SOX9 protein, little is known about what mechanism(s) controls normal SOX9 expression, and subsequently, which signaling pathways may be interrupted by...
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