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The tissue-specific nuclear matrix protein, NMP-2, is a member of the AML/CBF/PEBP2/Runt domain transcription factor family: Interactions with the osteocalcin gene promoter
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Ducy P, Zhang R, Geoffroy V, Ridall A, Karsenty G. Osf2/Cbfa1: •• a transcriptional activator of osteoblast differentiation. Cell 1997; 89:747-754. Cloning of Osf2/Cbfa1 cDNA and molecular evidence that it acts as an osteoblast-specific activator of transcription. This paper shows the restriction of Osf2/Cbfa1 expression to the osteoblastic lineage and its ability to bind to the promoter and activate transcription of the principal osteoblast-specific genes in osteoblastic as well as in non-osteoblastic cells.
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Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development
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Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, •• Stamp GWH, Beddington RSP, Mundlos S, Olsen BR, Selby PB, Owen MJ. Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development. Cell 1997; 89:765-771. Targeted disruption of the Cbfa1 gene in mice. This paper shows the requirement of Cbfa1 for osteoblast differentiation during embryogenesis. It also establishes the genetic link between Cbfa1 and the CCD phenotype in mice.
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Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts
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Komori T, Yagi H, Nomura S, Yamaguchi A, Sasaki K, Deguchi K, Shimizu •• Y, Bronson RT, Gao Y-H, Inada M, Sato M, Okamoto R, Kitamura Y, Yoshiki S, Kishimoto T. Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts. Cell 1997; 89:755-764. Targeted disruption of the Cbfa1 gene in mice. This study shows the requirement of Cbfa1 for osteoblast differentiation and osteoblast-specific gene expression during embryogenesis.
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Lee B, Thirunavukkarasu K, Zhou L, Pastore L, Baldini A, Geoffroy V, Ducy P, •• Karsenty G. Missense mutations abolishing DNA binding OSF2/CBFA1 in patients affected with cleidocranial dysplasia. Nature Genet 1997; 16:307-311. Characterization of missense mutations in the DMA-binding domain encoding region of the CBFA1 gene in Cleidocranial dysplasia patients.
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Mundlos S, Otto F, Mundlos C, Mulliken JB, Aylsworth AS, Albright S, •• Lindhout D, Cole WG, Henn W, Knoll JHM, Owen MJ, Mertelsmann R, Zabel BU, Olsen BR. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia. Cell 1997; 89:773-779. Characterization of deletions, stop codon and insertion mutations in the CBFA1 gene of Cleidocranial dysplasia patients. This paper is particularly important because it shows that CCD is caused by haploinsufficiency
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