PubMed · 9690033
New developments in bone formation.
Abstract
Two independent strategies have established that the transcription factor, Cbfa1, is a key regulator of both osteoblast differentiation and osteoblast-specific gene expression. Gene targeting experiments in mice have also shown that haploinsufficiency of Cbfa1 expression causes symptoms reminiscent of the Cleidocranial dysplasia syndrome (CCD), a heritable disorder of the skeleton. Direct analysis of the Cbfa1 gene in CCD families has revealed a direct correlation between mutations in this gene and disease phenotype.
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M J Owen, G Karsenty. 1998. New developments in bone formation.. https://doi.org/10.1097/00041552-199807000-00003
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