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

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 the RUNX2(R131G) m...

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Main Authors: Han, Min-Su, Kim, Hyo-Jin, Wee, Hee-Jun, Lim, Kyung-Eun, Park, Na-Rae, Bae, Suk-Chul, van Wijnen, Andre J., Stein, Janet L., Lian, Jane B., Stein, Gary S., Choi, Je-Yong
Format: Artigo
Sprog:Inglês
Udgivet: 2010
Fag:
Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3123452/
https://ncbi.nlm.nih.gov/pubmed/20225274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcb.22516
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