ABSTRACT SOX9 is a pivotal transcription factor in developing and adult cartilage. Its gene
is expressed from the multipotent skeletal progenitor stage and is active throughout …

The generation of the components that make up the embryonic body axis, such as the spinal
cord and vertebral column, takes place in an anterior-to-posterior (head-to-tail) direction …

Distant-acting tissue-specific enhancers, which regulate gene expression, vastly outnumber
protein-coding genes in mammalian genomes, but the functional importance of this …

Chromosome conformation capture methods have identified subchromosomal structures of
higher-order chromatin interactions called topologically associated domains (TADs) that are …

Non-coding mutations at the far end of a large gene desert surrounding the SOX9 gene
result in a human craniofacial disorder called Pierre Robin sequence (PRS). Leveraging a …

Major differences in facial morphology distinguish vertebrate species. Variation of facial
traits underlies the uniqueness of human individuals, and abnormal craniofacial …

The transcription factor SOX9 is essential for the development of multiple organs including
bone, testis, heart, lung, pancreas, intestine and nervous system. Mutations in the human …

The formation of the face and skull involves a complex series of developmental events
mediated by cells derived from the neural crest, endoderm, mesoderm, and ectoderm …

Defects in patterning during human embryonic development frequently result in craniofacial
abnormalities. The gene regulatory programs that build the craniofacial complex are likely …

Pierre Robin sequence is not a rare condition and paediatric specialists caring for
respiratory related issues are likely to encounter cases in their practice. There have been a …