Ontology highlight
ABSTRACT:
SUBMITTER: Plavicki JS
PROVIDER: S-EPMC4510993 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Plavicki Jessica S JS Baker Tracie R TR Burns Felipe R FR Xiong Kong M KM Gooding Alex J AJ Hofsteen Peter P Peterson Richard E RE Heideman Warren W
The International journal of developmental biology 20140101 9
The transcription factor SOX9 is a member of the SRY-related high-mobility-group box (SOX) superfamily of genes. In mammals, Sox9 plays important roles in many developmental processes including craniofacial, skeletal and heart morphogenesis, retinal and brain development, and gonad differentiation. Human mutations in SOX9 or the SOX9 promoter result in campomelic dysplasia, a severe genetic disorder, which disrupts skeletal, craniofacial, cardiac, neural and reproductive development. Due to the ...[more]