Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects.

Brittany T TruongLomeli C ShullBryan J ZepedaEzra LencerKristin Bruk Artinger

Published in: Birth defects research (2024)

These data suggest that the three SHFM variants are likely not functional and may be associated with the craniofacial defects observed in the humans. Finally, they demonstrate how Prdm1a can directly bind and regulate genes involved in craniofacial development.

Keyphrases

endothelial cells
copy number
induced pluripotent stem cells
pluripotent stem cells
gene expression
dna methylation