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Functional analysis of natural mutations in two TWIST protein motifs.

Abstract:

The basic helix-loop-helix protein Twist, a transcriptional repressor, is essential for embryogenesis in both invertebrates and vertebrates. Haploinsufficiency of the human TWIST1 gene, which causes the craniosynostosis disorder Saethre-Chotzen syndrome (SCS), is related to failure to repress transcription of CDKN1A (which encodes p21/WAF1/CIP1), promoting osteoblast differentiation. We have examined the functional significance of natural TWIST1 variants present in craniosynostosis patients a...

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Publication status:
Published

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Publisher copy:
10.1002/humu.20176

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Journal:
Human mutation More from this journal
Volume:
25
Issue:
6
Pages:
550-556
Publication date:
2005-06-01
DOI:
EISSN:
1098-1004
ISSN:
1059-7794

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