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Missense mutations abolishing DNA binding of the osteoblast-specific transcription factor OSF2/CBFA1 in cleidocranial dysplasia

✍ Scribed by Lee, Brendan; Thirunavukkarasu, Kannan; Zhou, Lei; Pastore, Lucio; Baldini, Antonio; Hecht, Jacqueline; Geoffrey, Valeric; Ducy, Patricia; Karsenty, Gerard

Book ID: 109916532
Publisher: Nature Publishing Group
Year: 1997
Tongue: English
Weight: 575 KB
Volume: 16
Category: Article
ISSN: 1061-4036
DOI: 10.1038/ng0797-307

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The cleidocranial dysplasia-related R131

The cleidocranial dysplasia-related R131G mutation in the Runt-related transcription factor RUNX2 disrupts binding to DNA but not CBF-β

✍ Min-Su Han; Hyo-Jin Kim; Hee-Jun Wee; Kyung-Eun Lim; Na-Rae Park; Suk-Chul Bae; 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 209 KB

## Abstract Cleidocranial dysplasia (CCD) is caused by haploinsufficiency in __RUNX2__ function. We have previously identified a series of RUNX2 mutations in Korean CCD patients, including a novel R131G missense mutation in the Runt‐homology domain. Here, we examine the functional consequences of t