Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling.

Ronit Marom Bo Zhang Megan E Washington I-Wen Song Lindsay C BurrageVittoria C RossiAva S BerrierAnika G LindseyJacob LesinskiMichael L NonetJian ChenDustin Baldridge Gary A SilvermanV Reid SuttonJill Anne RosenfeldAlyssa A TranM John HicksDavid R MurdockHongzheng DaiMaryAnn WeisShalini N JhangianiDonna M MuznyRichard A GibbsRichard C CaswellCarrie PottingerDeirdre CilliersKaren Stalsnull nullDavid EyreDeborah KrakowTim Schedl Stephen C Pak Brendan H Lee

Published in: PLoS genetics (2023)

We report dominant negative variants in the KIF5B kinesin motor domain in individuals with osteogenesis imperfecta. This study expands the spectrum of kinesin-related disorders and identifies dysregulated signaling targets for KIF5B in skeletal development.

Keyphrases

copy number
genome wide
cell proliferation
gene expression
bone regeneration
dna methylation