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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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Owen, M.J. et al.

Owen, Karsenty,

New developments in bone formation.

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.[1]

References

New developments in bone formation. Owen, M.J., Karsenty, G. Curr. Opin. Nephrol. Hypertens. (1998) [Pubmed]

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